A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
The passage of viable bacteria from the GASTROINTESTINAL TRACT to extra-intestinal sites, such as the mesenteric lymph node complex, liver, spleen, kidney, and blood. Factors that promote bacterial translocation include overgrowth with gram-negative enteric bacilli, impaired host immune defenses, and injury to the INTESTINAL MUCOSA resulting in increased intestinal permeability. Bacterial translocation from the lung to the circulation is also possible and sometimes accompanies MECHANICAL VENTILATION.
The process of moving proteins from one cellular compartment (including extracellular) to another by various sorting and transport mechanisms such as gated transport, protein translocation, and vesicular transport.
The movement of materials (including biochemical substances and drugs) through a biological system at the cellular level. The transport can be across cell membranes and epithelial layers. It also can occur within intracellular compartments and extracellular compartments.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Gated transport mechanisms by which proteins or RNA are moved across the NUCLEAR MEMBRANE.
Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
The lipid- and protein-containing, selectively permeable membrane that surrounds the cytoplasm in prokaryotic and eukaryotic cells.
Mapping of the KARYOTYPE of a cell.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A glucose transport protein found in mature MUSCLE CELLS and ADIPOCYTES. It promotes transport of glucose from the BLOOD into target TISSUES. The inactive form of the protein is localized in CYTOPLASMIC VESICLES. In response to INSULIN, it is translocated to the PLASMA MEMBRANE where it facilitates glucose uptake.
Membrane proteins whose primary function is to facilitate the transport of molecules across a biological membrane. Included in this broad category are proteins involved in active transport (BIOLOGICAL TRANSPORT, ACTIVE), facilitated transport and ION CHANNELS.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
The GENETIC TRANSLATION products of the fusion between an ONCOGENE and another gene. The latter may be of viral or cellular origin.
Established cell cultures that have the potential to propagate indefinitely.
A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
Intracellular fluid from the cytoplasm after removal of ORGANELLES and other insoluble cytoplasmic components.
Amino acid sequences found in transported proteins that selectively guide the distribution of the proteins to specific cellular compartments.
The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.
The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
The introduction of a phosphoryl group into a compound through the formation of an ester bond between the compound and a phosphorus moiety.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.
A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.
An serine-threonine protein kinase that requires the presence of physiological concentrations of CALCIUM and membrane PHOSPHOLIPIDS. The additional presence of DIACYLGLYCEROLS markedly increases its sensitivity to both calcium and phospholipids. The sensitivity of the enzyme can also be increased by PHORBOL ESTERS and it is believed that protein kinase C is the receptor protein of tumor-promoting phorbol esters.
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Recombinant proteins produced by the GENETIC TRANSLATION of fused genes formed by the combination of NUCLEIC ACID REGULATORY SEQUENCES of one or more genes with the protein coding sequences of one or more genes.
The part of a cell that contains the CYTOSOL and small structures excluding the CELL NUCLEUS; MITOCHONDRIA; and large VACUOLES. (Glick, Glossary of Biochemistry and Molecular Biology, 1990)
The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.
A large group of membrane transport proteins that shuttle MONOSACCHARIDES across CELL MEMBRANES.
Proteins obtained from ESCHERICHIA COLI.
The rate dynamics in chemical or physical systems.
Ubiquitous, inducible, nuclear transcriptional activator that binds to enhancer elements in many different cell types and is activated by pathogenic stimuli. The NF-kappa B complex is a heterodimer composed of two DNA-binding subunits: NF-kappa B1 and relA.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
Thin structures that encapsulate subcellular structures or ORGANELLES in EUKARYOTIC CELLS. They include a variety of membranes associated with the CELL NUCLEUS; the MITOCHONDRIA; the GOLGI APPARATUS; the ENDOPLASMIC RETICULUM; LYSOSOMES; PLASTIDS; and VACUOLES.
Conversion of an inactive form of an enzyme to one possessing metabolic activity. It includes 1, activation by ions (activators); 2, activation by cofactors (coenzymes); and 3, conversion of an enzyme precursor (proenzyme or zymogen) to an active enzyme.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.
Proteins found in any species of bacterium.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
A system of cisternae in the CYTOPLASM of many cells. In places the endoplasmic reticulum is continuous with the plasma membrane (CELL MEMBRANE) or outer membrane of the nuclear envelope. If the outer surfaces of the endoplasmic reticulum membranes are coated with ribosomes, the endoplasmic reticulum is said to be rough-surfaced (ENDOPLASMIC RETICULUM, ROUGH); otherwise it is said to be smooth-surfaced (ENDOPLASMIC RETICULUM, SMOOTH). (King & Stansfield, A Dictionary of Genetics, 4th ed)
Semiautonomous, self-reproducing organelles that occur in the cytoplasm of all cells of most, but not all, eukaryotes. Each mitochondrion is surrounded by a double limiting membrane. The inner membrane is highly invaginated, and its projections are called cristae. Mitochondria are the sites of the reactions of oxidative phosphorylation, which result in the formation of ATP. They contain distinctive RIBOSOMES, transfer RNAs (RNA, TRANSFER); AMINO ACYL T RNA SYNTHETASES; and elongation and termination factors. Mitochondria depend upon genes within the nucleus of the cells in which they reside for many essential messenger RNAs (RNA, MESSENGER). Mitochondria are believed to have arisen from aerobic bacteria that established a symbiotic relationship with primitive protoeukaryotes. (King & Stansfield, A Dictionary of Genetics, 4th ed)
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
Myeloid-lymphoid leukemia protein is a transcription factor that maintains high levels of HOMEOTIC GENE expression during development. The GENE for myeloid-lymphoid leukemia protein is commonly disrupted in LEUKEMIA and combines with over 40 partner genes to form FUSION ONCOGENE PROTEINS.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
A group of enzymes which catalyze the hydrolysis of ATP. The hydrolysis reaction is usually coupled with another function such as transporting Ca(2+) across a membrane. These enzymes may be dependent on Ca(2+), Mg(2+), anions, H+, or DNA.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
Peptide Elongation Factor G catalyzes the translocation of peptidyl-tRNA from the A to the P site of bacterial ribosomes by a process linked to hydrolysis of GTP to GDP.
Transport proteins that carry specific substances in the blood or across cell membranes.
The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.
Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.
The movement of materials across cell membranes and epithelial layers against an electrochemical gradient, requiring the expenditure of metabolic energy.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
One of the mechanisms by which CELL DEATH occurs (compare with NECROSIS and AUTOPHAGOCYTOSIS). Apoptosis is the mechanism responsible for the physiological deletion of cells and appears to be intrinsically programmed. It is characterized by distinctive morphologic changes in the nucleus and cytoplasm, chromatin cleavage at regularly spaced sites, and the endonucleolytic cleavage of genomic DNA; (DNA FRAGMENTATION); at internucleosomal sites. This mode of cell death serves as a balance to mitosis in regulating the size of animal tissues and in mediating pathologic processes associated with tumor growth.
Products of proto-oncogenes. Normally they do not have oncogenic or transforming properties, but are involved in the regulation or differentiation of cell growth. They often have protein kinase activity.
Any of various enzymatically catalyzed post-translational modifications of PEPTIDES or PROTEINS in the cell of origin. These modifications include carboxylation; HYDROXYLATION; ACETYLATION; PHOSPHORYLATION; METHYLATION; GLYCOSYLATION; ubiquitination; oxidation; proteolysis; and crosslinking and result in changes in molecular weight and electrophoretic motility.
An adenine nucleotide containing three phosphate groups esterified to the sugar moiety. In addition to its crucial roles in metabolism adenosine triphosphate is a neurotransmitter.
The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.
The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.
The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.
A partitioning within cells due to the selectively permeable membranes which enclose each of the separate parts, e.g., mitochondria, lysosomes, etc.
Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.
Protein analogs and derivatives of the Aequorea victoria green fluorescent protein that emit light (FLUORESCENCE) when excited with ULTRAVIOLET RAYS. They are used in REPORTER GENES in doing GENETIC TECHNIQUES. Numerous mutants have been made to emit other colors or be sensitive to pH.
Any method used for determining the location of and relative distances between genes on a chromosome.
A light microscopic technique in which only a small spot is illuminated and observed at a time. An image is constructed through point-by-point scanning of the field in this manner. Light sources may be conventional or laser, and fluorescence or transmitted observations are possible.
Components of a cell produced by various separation techniques which, though they disrupt the delicate anatomy of a cell, preserve the structure and physiology of its functioning constituents for biochemical and ultrastructural analysis. (From Alberts et al., Molecular Biology of the Cell, 2d ed, p163)
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Structurally related forms of an enzyme. Each isoenzyme has the same mechanism and classification, but differs in its chemical, physical, or immunological characteristics.
Microscopy of specimens stained with fluorescent dye (usually fluorescein isothiocyanate) or of naturally fluorescent materials, which emit light when exposed to ultraviolet or blue light. Immunofluorescence microscopy utilizes antibodies that are labeled with fluorescent dye.
The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.
Compounds or agents that combine with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction.
A protein kinase C subtype that was originally characterized as a CALCIUM-independent, serine-threonine kinase that is activated by PHORBOL ESTERS and DIACYLGLYCEROLS. It is targeted to specific cellular compartments in response to extracellular signals that activate G-PROTEIN-COUPLED RECEPTORS; TYROSINE KINASE RECEPTORS; and intracellular protein tyrosine kinase.
The parts of a macromolecule that directly participate in its specific combination with another molecule.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
A cell line derived from cultured tumor cells.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
The possession of a third chromosome of any one type in an otherwise diploid cell.
Models used experimentally or theoretically to study molecular shape, electronic properties, or interactions; includes analogous molecules, computer-generated graphics, and mechanical structures.
A subunit of NF-kappa B that is primarily responsible for its transactivation function. It contains a C-terminal transactivation domain and an N-terminal domain with homology to PROTO-ONCOGENE PROTEINS C-REL.
Stable elementary particles having the smallest known positive charge, found in the nuclei of all elements. The proton mass is less than that of a neutron. A proton is the nucleus of the light hydrogen atom, i.e., the hydrogen ion.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Small holes of nanometer dimensions in a membrane, that can be used as single molecule detectors. The pores can be biological or synthetic.
The protein constituents of muscle, the major ones being ACTINS and MYOSINS. More than a dozen accessory proteins exist including TROPONIN; TROPOMYOSIN; and DYSTROPHIN.
A flavoprotein that functions as a powerful antioxidant in the MITOCHONDRIA and promotes APOPTOSIS when released from the mitochondria. In mammalian cells AIF is released in response to pro-apoptotic protein members of the bcl-2 protein family. It translocates to the CELL NUCLEUS and binds DNA to stimulate CASPASE-independent CHROMATIN condensation.
A cytoplasmic serine threonine kinase involved in regulating CELL DIFFERENTIATION and CELLULAR PROLIFERATION. Overexpression of this enzyme has been shown to promote PHOSPHORYLATION of BCL-2 PROTO-ONCOGENE PROTEINS and chemoresistance in human acute leukemia cells.
Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.
Normal cellular genes homologous to viral oncogenes. The products of proto-oncogenes are important regulators of biological processes and appear to be involved in the events that serve to maintain the ordered procession through the cell cycle. Proto-oncogenes have names of the form c-onc.
Elements of limited time intervals, contributing to particular results or situations.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
CELL LINES derived from the CV-1 cell line by transformation with a replication origin defective mutant of SV40 VIRUS, which codes for wild type large T antigen (ANTIGENS, POLYOMAVIRUS TRANSFORMING). They are used for transfection and cloning. (The CV-1 cell line was derived from the kidney of an adult male African green monkey (CERCOPITHECUS AETHIOPS).)
The first continuously cultured human malignant CELL LINE, derived from the cervical carcinoma of Henrietta Lacks. These cells are used for VIRUS CULTIVATION and antitumor drug screening assays.
The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.
A transcription factor that dimerizes with the cofactor CORE BINDING FACTOR BETA SUBUNIT to form core binding factor. It contains a highly conserved DNA-binding domain known as the runt domain. Runx1 is frequently mutated in human LEUKEMIAS.
A phorbol ester found in CROTON OIL with very effective tumor promoting activity. It stimulates the synthesis of both DNA and RNA.
Proteins which are involved in the phenomenon of light emission in living systems. Included are the "enzymatic" and "non-enzymatic" types of system with or without the presence of oxygen or co-factors.
A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.
Artifactual vesicles formed from the endoplasmic reticulum when cells are disrupted. They are isolated by differential centrifugation and are composed of three structural features: rough vesicles, smooth vesicles, and ribosomes. Numerous enzyme activities are associated with the microsomal fraction. (Glick, Glossary of Biochemistry and Molecular Biology, 1990; from Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
Cells grown in vitro from neoplastic tissue. If they can be established as a TUMOR CELL LINE, they can be propagated in cell culture indefinitely.
The biosynthesis of PEPTIDES and PROTEINS on RIBOSOMES, directed by MESSENGER RNA, via TRANSFER RNA that is charged with standard proteinogenic AMINO ACIDS.
Cell lines whose original growing procedure consisted being transferred (T) every 3 days and plated at 300,000 cells per plate (J Cell Biol 17:299-313, 1963). Lines have been developed using several different strains of mice. Tissues are usually fibroblasts derived from mouse embryos but other types and sources have been developed as well. The 3T3 lines are valuable in vitro host systems for oncogenic virus transformation studies, since 3T3 cells possess a high sensitivity to CONTACT INHIBITION.
The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.
A 51-amino acid pancreatic hormone that plays a major role in the regulation of glucose metabolism, directly by suppressing endogenous glucose production (GLYCOGENOLYSIS; GLUCONEOGENESIS) and indirectly by suppressing GLUCAGON secretion and LIPOLYSIS. Native insulin is a globular protein comprised of a zinc-coordinated hexamer. Each insulin monomer containing two chains, A (21 residues) and B (30 residues), linked by two disulfide bonds. Insulin is used as a drug to control insulin-dependent diabetes mellitus (DIABETES MELLITUS, TYPE 1).
Short, predominantly basic amino acid sequences identified as nuclear import signals for some proteins. These sequences are believed to interact with specific receptors at the NUCLEAR PORE.
A ubiquitously expressed protein kinase that is involved in a variety of cellular SIGNAL PATHWAYS. Its activity is regulated by a variety of signaling protein tyrosine kinase.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
A member of the Bcl-2 protein family and homologous partner of C-BCL-2 PROTO-ONCOGENE PROTEIN. It regulates the release of CYTOCHROME C and APOPTOSIS INDUCING FACTOR from the MITOCHONDRIA. Several isoforms of BCL2-associated X protein occur due to ALTERNATIVE SPLICING of the mRNA for this protein.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The characteristic 3-dimensional shape of a protein, including the secondary, supersecondary (motifs), tertiary (domains) and quaternary structure of the peptide chain. PROTEIN STRUCTURE, QUATERNARY describes the conformation assumed by multimeric proteins (aggregates of more than one polypeptide chain).
Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.
A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative.
A group of enzymes that catalyzes the phosphorylation of serine or threonine residues in proteins, with ATP or other nucleotides as phosphate donors.
A family of inhibitory proteins which bind to the REL PROTO-ONCOGENE PROTEINS and modulate their activity. In the CYTOPLASM, I-kappa B proteins bind to the transcription factor NF-KAPPA B. Cell stimulation causes its dissociation and translocation of active NF-kappa B to the nucleus.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
An ADP-ribosylating polypeptide produced by CORYNEBACTERIUM DIPHTHERIAE that causes the signs and symptoms of DIPHTHERIA. It can be broken into two unequal domains: the smaller, catalytic A domain is the lethal moiety and contains MONO(ADP-RIBOSE) TRANSFERASES which transfers ADP RIBOSE to PEPTIDE ELONGATION FACTOR 2 thereby inhibiting protein synthesis; and the larger B domain that is needed for entry into cells.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Proteins prepared by recombinant DNA technology.
A subfamily in the family MURIDAE, comprising the hamsters. Four of the more common genera are Cricetus, CRICETULUS; MESOCRICETUS; and PHODOPUS.
Immunologic method used for detecting or quantifying immunoreactive substances. The substance is identified by first immobilizing it by blotting onto a membrane and then tagging it with labeled antibodies.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
A primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement.
A family of cellular proteins that mediate the correct assembly or disassembly of polypeptides and their associated ligands. Although they take part in the assembly process, molecular chaperones are not components of the final structures.
Cells in the body that store FATS, usually in the form of TRIGLYCERIDES. WHITE ADIPOCYTES are the predominant type and found mostly in the abdominal cavity and subcutaneous tissue. BROWN ADIPOCYTES are thermogenic cells that can be found in newborns of some species and hibernating mammals.
A basic element found in nearly all organized tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes.
Multicomponent ribonucleoprotein structures found in the CYTOPLASM of all cells, and in MITOCHONDRIA, and PLASTIDS. They function in PROTEIN BIOSYNTHESIS via GENETIC TRANSLATION.
Phosphotransferases that catalyzes the conversion of 1-phosphatidylinositol to 1-phosphatidylinositol 3-phosphate. Many members of this enzyme class are involved in RECEPTOR MEDIATED SIGNAL TRANSDUCTION and regulation of vesicular transport with the cell. Phosphatidylinositol 3-Kinases have been classified both according to their substrate specificity and their mode of action within the cell.
Proteins isolated from the outer membrane of Gram-negative bacteria.
Membrane proteins encoded by the BCL-2 GENES and serving as potent inhibitors of cell death by APOPTOSIS. The proteins are found on mitochondrial, microsomal, and NUCLEAR MEMBRANE sites within many cell types. Overexpression of bcl-2 proteins, due to a translocation of the gene, is associated with follicular lymphoma.
Genetically engineered MUTAGENESIS at a specific site in the DNA molecule that introduces a base substitution, or an insertion or deletion.
The largest of polypeptide chains comprising immunoglobulins. They contain 450 to 600 amino acid residues per chain, and have molecular weights of 51-72 kDa.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
The process of cleaving a chemical compound by the addition of a molecule of water.
A cytosolic ribonucleoprotein complex that acts to induce elongation arrest of nascent presecretory and membrane proteins until the ribosome becomes associated with the rough endoplasmic reticulum. It consists of a 7S RNA and at least six polypeptide subunits (relative molecular masses 9, 14, 19, 54, 68, and 72K).
A protein-serine-threonine kinase that is activated by PHOSPHORYLATION in response to GROWTH FACTORS or INSULIN. It plays a major role in cell metabolism, growth, and survival as a core component of SIGNAL TRANSDUCTION. Three isoforms have been described in mammalian cells.
Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm.
Energy that is generated by the transfer of protons or electrons across an energy-transducing membrane and that can be used for chemical, osmotic, or mechanical work. Proton-motive force can be generated by a variety of phenomena including the operation of an electron transport chain, illumination of a PURPLE MEMBRANE, and the hydrolysis of ATP by a proton ATPase. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed, p171)
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
A strain of albino rat used widely for experimental purposes because of its calmness and ease of handling. It was developed by the Sprague-Dawley Animal Company.
A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)
A process of GENETIC TRANSLATION, when an amino acid is transferred from its cognate TRANSFER RNA to the lengthening chain of PEPTIDES.
Test for tissue antigen using either a direct method, by conjugation of antibody with fluorescent dye (FLUORESCENT ANTIBODY TECHNIQUE, DIRECT) or an indirect method, by formation of antigen-antibody complex which is then labeled with fluorescein-conjugated anti-immunoglobulin antibody (FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT). The tissue is then examined by fluorescence microscopy.
A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.
The normality of a solution with respect to HYDROGEN ions; H+. It is related to acidity measurements in most cases by pH = log 1/2[1/(H+)], where (H+) is the hydrogen ion concentration in gram equivalents per liter of solution. (McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
Small double-stranded, non-protein coding RNAs (21-31 nucleotides) involved in GENE SILENCING functions, especially RNA INTERFERENCE (RNAi). Endogenously, siRNAs are generated from dsRNAs (RNA, DOUBLE-STRANDED) by the same ribonuclease, Dicer, that generates miRNAs (MICRORNAS). The perfect match of the siRNAs' antisense strand to their target RNAs mediates RNAi by siRNA-guided RNA cleavage. siRNAs fall into different classes including trans-acting siRNA (tasiRNA), repeat-associated RNA (rasiRNA), small-scan RNA (scnRNA), and Piwi protein-interacting RNA (piRNA) and have different specific gene silencing functions.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A proton ionophore. It is commonly used as an uncoupling agent and inhibitor of photosynthesis because of its effects on mitochondrial and chloroplast membranes.
Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.
Genes whose gain-of-function alterations lead to NEOPLASTIC CELL TRANSFORMATION. They include, for example, genes for activators or stimulators of CELL PROLIFERATION such as growth factors, growth factor receptors, protein kinases, signal transducers, nuclear phosphoproteins, and transcription factors. A prefix of "v-" before oncogene symbols indicates oncogenes captured and transmitted by RETROVIRUSES; the prefix "c-" before the gene symbol of an oncogene indicates it is the cellular homolog (PROTO-ONCOGENES) of a v-oncogene.
Proteins obtained from the species SACCHAROMYCES CEREVISIAE. The function of specific proteins from this organism are the subject of intense scientific interest and have been used to derive basic understanding of the functioning similar proteins in higher eukaryotes.
The relationship between the dose of an administered drug and the response of the organism to the drug.
Members of the class of compounds composed of AMINO ACIDS joined together by peptide bonds between adjacent amino acids into linear, branched or cyclical structures. OLIGOPEPTIDES are composed of approximately 2-12 amino acids. Polypeptides are composed of approximately 13 or more amino acids. PROTEINS are linear polypeptides that are normally synthesized on RIBOSOMES.
CELL LINE derived from the ovary of the Chinese hamster, Cricetulus griseus (CRICETULUS). The species is a favorite for cytogenetic studies because of its small chromosome number. The cell line has provided model systems for the study of genetic alterations in cultured mammalian cells.
The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.
Actual loss of portion of a chromosome.
Protein-lipid combinations abundant in brain tissue, but also present in a wide variety of animal and plant tissues. In contrast to lipoproteins, they are insoluble in water, but soluble in a chloroform-methanol mixture. The protein moiety has a high content of hydrophobic amino acids. The associated lipids consist of a mixture of GLYCEROPHOSPHATES; CEREBROSIDES; and SULFOGLYCOSPHINGOLIPIDS; while lipoproteins contain PHOSPHOLIPIDS; CHOLESTEROL; and TRIGLYCERIDES.
A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.
A family of intracellular CYSTEINE ENDOPEPTIDASES that play a role in regulating INFLAMMATION and APOPTOSIS. They specifically cleave peptides at a CYSTEINE amino acid that follows an ASPARTIC ACID residue. Caspases are activated by proteolytic cleavage of a precursor form to yield large and small subunits that form the enzyme. Since the cleavage site within precursors matches the specificity of caspases, sequential activation of precursors by activated caspases can occur.
Diffusible gene products that act on homologous or heterologous molecules of viral or cellular DNA to regulate the expression of proteins.
A class of MOLECULAR CHAPERONES found in both prokaryotes and in several compartments of eukaryotic cells. These proteins can interact with polypeptides during a variety of assembly processes in such a way as to prevent the formation of nonfunctional structures.
A layer of the peritoneum which attaches the abdominal viscera to the ABDOMINAL WALL and conveys their blood vessels and nerves.
A family of transcription factors characterized by the presence of highly conserved calcineurin- and DNA-binding domains. NFAT proteins are activated in the CYTOPLASM by the calcium-dependent phosphatase CALCINEURIN. They transduce calcium signals to the nucleus where they can interact with TRANSCRIPTION FACTOR AP-1 or NF-KAPPA B and initiate GENETIC TRANSCRIPTION of GENES involved in CELL DIFFERENTIATION and development. NFAT proteins stimulate T-CELL activation through the induction of IMMEDIATE-EARLY GENES such as INTERLEUKIN-2.
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
Cytochromes of the c type that are found in eukaryotic MITOCHONDRIA. They serve as redox intermediates that accept electrons from MITOCHONDRIAL ELECTRON TRANSPORT COMPLEX III and transfer them to MITOCHONDRIAL ELECTRON TRANSPORT COMPLEX IV.
A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes.
An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.
Protein kinases that catalyze the PHOSPHORYLATION of TYROSINE residues in proteins with ATP or other nucleotides as phosphate donors.
Techniques to partition various components of the cell into SUBCELLULAR FRACTIONS.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
A species of CERCOPITHECUS containing three subspecies: C. tantalus, C. pygerythrus, and C. sabeus. They are found in the forests and savannah of Africa. The African green monkey (C. pygerythrus) is the natural host of SIMIAN IMMUNODEFICIENCY VIRUS and is used in AIDS research.
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
Filamentous proteins that are the main constituent of the thin filaments of muscle fibers. The filaments (known also as filamentous or F-actin) can be dissociated into their globular subunits; each subunit is composed of a single polypeptide 375 amino acids long. This is known as globular or G-actin. In conjunction with MYOSINS, actin is responsible for the contraction and relaxation of muscle.
Histochemical localization of immunoreactive substances using labeled antibodies as reagents.
The aggregation of soluble ANTIGENS with ANTIBODIES, alone or with antibody binding factors such as ANTI-ANTIBODIES or STAPHYLOCOCCAL PROTEIN A, into complexes large enough to fall out of solution.
The GENETIC RECOMBINATION of the parts of two or more GENES resulting in a gene with different or additional regulatory regions, or a new chimeric gene product. ONCOGENE FUSION includes an ONCOGENE as at least one of the fusion partners and such gene fusions are often detected in neoplastic cells and are transcribed into ONCOGENE FUSION PROTEINS. ARTIFICIAL GENE FUSION is carried out in vitro by RECOMBINANT DNA technology.
Multisubunit enzymes that reversibly synthesize ADENOSINE TRIPHOSPHATE. They are coupled to the transport of protons across a membrane.
Family of retrovirus-associated DNA sequences (myc) originally isolated from an avian myelocytomatosis virus. The proto-oncogene myc (c-myc) codes for a nuclear protein which is involved in nucleic acid metabolism and in mediating the cellular response to growth factors. Truncation of the first exon, which appears to regulate c-myc expression, is crucial for tumorigenicity. The human c-myc gene is located at 8q24 on the long arm of chromosome 8.
A negative regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins.
Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (MYELOID PROGENITOR CELLS) in the bone marrow and other sites.
Proteins and peptides that are involved in SIGNAL TRANSDUCTION within the cell. Included here are peptides and proteins that regulate the activity of TRANSCRIPTION FACTORS and cellular processes in response to signals from CELL SURFACE RECEPTORS. Intracellular signaling peptide and proteins may be part of an enzymatic signaling cascade or act through binding to and modifying the action of other signaling factors.

Leukemia translocation protein PLZF inhibits cell growth and expression of cyclin A. (1/4947)

The PLZF gene was identified by its fusion with the RARalpha locus in a therapy resistant form of acute promyelocytic leukemia (APL) associated with the t(11;17)(q23;q21) translocation. Here we describe PLZF as a negative regulator of cell cycle progression ultimately leading to growth suppression. PLZF can bind and repress the cyclin A2 promoter while expression of cyclin A2 reverts the growth suppressed phenotype of myeloid cells expressing PLZF. In contrast RARalpha-PLZF, a fusion protein generated in t(11;17)(q23;q21)-APL activates cyclin A2 transcription and allows expression of cyclin A in anchorage-deprived NIH3T3 cells. Therefore, cyclin A2 is a candidate target gene for PLZF and inhibition of cyclin A expression may contribute to the growth suppressive properties of PLZF. Deregulation of cyclin A2 by RARalpha-PLZF may represent an oncogenic mechanism of this chimeric protein and contribute to the aggressive clinical phenotype of t(11;17)(q23;q21)-associated APL.  (+info)

Three distinct domains in TEL-AML1 are required for transcriptional repression of the IL-3 promoter. (2/4947)

A cytogenetically cryptic (12;21) translocation is the most common molecular abnormality identified in childhood acute lymphoblastic leukemia (ALL), and it generates a chimeric TEL-AML1 protein. Fusion of the Helix-Loop-Helix (HLH) (also called the pointed) domain of TEL to AML1 has been suggested to convert AML1 from a transcriptional activator to a repressor. To define the structural features of this chimeric protein required for repression, we analysed the transcriptional activity of a series of TEL-AML1 mutants on the AML1-responsive interleukin-3 (IL-3) promoter, a potentially relevant gene target. Our results demonstrate that TEL-AML1 represses basal IL-3 promoter activity in lymphoid cells, and deletion mutant analysis identified three distinct domains of TEL-AML1 that are required for repression; the HLH (pointed) motif contained in the TEL portion of TEL-AML1, and both the runt homology domain (Rhd) and the 74 amino acids downstream of the Rhd that are present in the AML1 portion of the fusion protein. Although AML1B (and a shorter AML1 isoform, AML1A) have transcriptional activating activity on the IL-3 promoter, fusion of the AML1 gene to the TEL gene generates a repressor of IL-3 expression. Consistent with this activity, freshly isolated human ALL cells that contain TEL-AML1 do not express IL-3.  (+info)

Retinoic acid, but not arsenic trioxide, degrades the PLZF/RARalpha fusion protein, without inducing terminal differentiation or apoptosis, in a RA-therapy resistant t(11;17)(q23;q21) APL patient. (3/4947)

Primary blasts of a t(11;17)(q23;q21) acute promyelocytic leukaemia (APL) patient were analysed with respect to retinoic acid (RA) and arsenic trioxide (As2O3) sensitivity as well as PLZF/RARalpha status. Although RA induced partial monocytic differentiation ex vivo, but not in vivo, As203 failed to induce apoptosis in culture, contrasting with t(15;17) APL and arguing against the clinical use of As203 in t(11;17)(q23;q21) APL. Prior to cell culture, PLZF/RARalpha was found to exactly co-localize with PML onto PML nuclear bodies. However upon cell culture, it quickly shifted towards microspeckles, its localization found in transfection experiments. Arsenic trioxide, known to induce aggregation of PML nuclear bodies, left the microspeckled PLZF/RARalpha localization completely unaffected. RA treatment led to PLZF/RARalpha degradation. However, this complete PLZF/RARalpha degradation was not accompanied by differentiation or apoptosis, which could suggest a contribution of the reciprocal RARalpha/PLZF fusion product in leukaemogenesis or the existence of irreversible changes induced by the chimera.  (+info)

Insertion of excised IgH switch sequences causes overexpression of cyclin D1 in a myeloma tumor cell. (4/4947)

Oncogenes are often dysregulated in B cell tumors as a result of a reciprocal translocation involving an immunoglobulin locus. The translocations are caused by errors in two developmentally regulated DNA recombination processes: V(D)J and IgH switch recombination. Both processes share the property of joining discontinuous sequences from one chromosome and releasing intervening sequences as circles that are lost from progeny cells. Here we show that these intervening sequences may instead insert in the genome and that during productive IgH mu-epsilon switch recombination in U266 myeloma tumor cells, a portion of the excised IgH switch intervening sequences containing the 3' alpha-1 enhancer has inserted on chromosome 11q13, resulting in overexpression of the adjacent cyclin D1 oncogene.  (+info)

TEL/PDGFbetaR induces hematologic malignancies in mice that respond to a specific tyrosine kinase inhibitor. (5/4947)

The TEL/PDGFbetaR fusion protein is expressed as the consequence of a recurring t(5;12) translocation associated with chronic myelomonocytic leukemia (CMML). Unlike other activated protein tyrosine kinases associated with hematopoietic malignancies, TEL/PDGFbetaR is invariably associated with a myeloid leukemia phenotype in humans. To test the transforming properties of TEL/PDGFbetaR in vivo, and to analyze the basis for myeloid lineage specificity in humans, we constructed transgenic mice with TEL/PDGFbetaR expression driven by a lymphoid-specific immunoglobulin enhancer-promoter cassette. These mice developed lymphoblastic lymphomas of both T and B lineage, demonstrating that TEL/PDGFbetaR is a transforming protein in vivo, and that the transforming ability of this fusion is not inherently restricted to the myeloid lineage. Treatment of TEL/PDGFbetaR transgenic animals with a protein tyrosine kinase inhibitor with in vitro activity against PDGFbetaR (CGP57148) resulted in suppression of disease and a prolongation of survival. A therapeutic benefit was apparent both in animals treated before the development of overt clonal disease and in animals transplanted with clonal tumor cells. These results suggest that small-molecule tyrosine kinase inhibitors may be effective treatment for activated tyrosine kinase-mediated malignancies both early in the course of disease and after the development of additional transforming mutations.  (+info)

Structure and inheritance of some heterozygous Robertsonian translocation in man. (6/4947)

Banding studies in 25 Robertsonian translocations showed that all could be interpreted as stable dicentrics. The mechanism for their stability is likely to be the proximity of their centromeres but centromeric suppression could also have a role. In many of these dicentric translocations, discontinuous centromeric suppression, as indicated by chromatid separation at one of the centromeric regions, was observed in C-banded preparations. A further observation of undefined relation to the first was that the ratio of the two constitutive centromeric heterochromatin (CCH) regions from the component chromosomes of the translocations was variable in the same translocation type, e.g. t(13;14). It is proposed that this ratio may influence the segregation ratio. Abnormal spermatogenesis is suggested as the likely mechanism for the difference in the proportion of aneuploid offspring in the progeny of maternal and paternal heterozygotes. Neither of the t dic(21;21)s could be interpreted as isochromosomes. It is proposed that Robertsonian fusion translocations be defined as stable, dicentric, whole-arm translocations, with both centromeres in a median position and resulting in the loss of a small acentric fragment during this formation. It is suggested that they occur at high frequency between telocentric or, as in man, certain acrocentric chromosomes because of some intrinsic property of those chromosomes not possessed by metacentric chromosomes and mediated by interphase association of centromeres.  (+info)

Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11. (7/4947)

Derivative 22 (der[22]) syndrome is a rare disorder associated with multiple congenital anomalies, including profound mental retardation, preauricular skin tags or pits, and conotruncal heart defects. It can occur in offspring of carriers of the constitutional t(11;22)(q23;q11) translocation, owing to a 3:1 meiotic malsegregation event resulting in partial trisomy of chromosomes 11 and 22. The trisomic region on chromosome 22 overlaps the region hemizygously deleted in another congenital anomaly disorder, velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS). Most patients with VCFS/DGS have a similar 3-Mb deletion, whereas some have a nested distal deletion endpoint resulting in a 1.5-Mb deletion, and a few rare patients have unique deletions. To define the interval on 22q11 containing the t(11;22) breakpoint, haplotype analysis and FISH mapping were performed for five patients with der(22) syndrome. Analysis of all the patients was consistent with 3:1 meiotic malsegregation in the t(11;22) carrier parent. FISH-mapping studies showed that the t(11;22) breakpoint occurred in the same interval as the 1.5-Mb distal deletion breakpoint for VCFS. The deletion breakpoint of one VCFS patient with an unbalanced t(18;22) translocation also occurred in the same region. Hamster-human somatic hybrid cell lines from a patient with der(22) syndrome and a patient with VCFS showed that the breakpoints occurred in an interval containing low-copy repeats, distal to RANBP1 and proximal to ZNF74. The presence of low-copy repetitive sequences may confer susceptibility to chromosome rearrangements. A 1.5-Mb region of overlap on 22q11 in both syndromes suggests the presence of dosage-dependent genes in this interval.  (+info)

Oncogenes and tumor suppressor genes: therapeutic implications. (8/4947)

Genetic instability is a hallmark of cancer. Alterations in DNA through mutations, deletions, and translocations affect genes that are fundamental to normal cell growth differentiation and programmed cell death. Here, we discuss these alterations as they relate to oncogenes and tumor suppressor genes. In addition, we describe the implications the changes in oncogenes and tumor suppressor genes have on designing new therapeutic strategies for the treatment of cancer.  (+info)

TY - JOUR. T1 - Pregnancy outcomes of reciprocal translocation carriers who have a history of repeated pregnancy loss. AU - Ozawa, Nobuaki. AU - Maruyama, Tetsuo. AU - Nagashima, Takashi. AU - Ono, Masanori. AU - Arase, Toru. AU - Ishimoto, Hitoshi. AU - Yoshimura, Yasunori. PY - 2008/10. Y1 - 2008/10. N2 - Cytogenetic investigation of 2,324 Japanese couples with repeated pregnancy loss revealed that 4.91% of couples (n = 114) had chromosome abnormalities including reciprocal translocation (n = 74), Robertsonian translocation (n = 23), and inversion (n = 10). Parental reciprocal translocation was a significant predictor of subsequent miscarriage (adjusted odds ratio: 3.6, 95% confidence interval: 1.8-7.1), and most of the miscarriages of the carrier couples were inevitable because of abnormal karyotypes, despite appropriate treatments.. AB - Cytogenetic investigation of 2,324 Japanese couples with repeated pregnancy loss revealed that 4.91% of couples (n = 114) had chromosome abnormalities ...
TY - JOUR. T1 - DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation. AU - Kato, Takema. AU - Inagaki, Hidehito. AU - Tong, Maoqing. AU - Kogo, Hiroshi. AU - Ohye, Tamae. AU - Yamada, Kouji. AU - Tsutsumi, Makiko. AU - Emanuel, Beverly S.. AU - Kurahashi, Hiroki. PY - 2011/9/14. Y1 - 2011/9/14. N2 - Background. Cumulative evidence suggests that DNA secondary structures impact DNA replication, transcription and genomic rearrangements. One of the best studied examples is the recurrent constitutional t(11;22) in humans that is mediated by potentially cruciform-forming sequences at the breakpoints, palindromic AT-rich repeats (PATRRs). We previously demonstrated that polymorphisms of PATRR sequences affect the frequency of de novo t(11;22)s in sperm samples from normal healthy males. These studies were designed to determine whether PATRR polymorphisms affect DNA secondary structure, thus leading to variation in translocation frequency. ...
Definition of robertsonian translocation in the Legal Dictionary - by Free online English dictionary and encyclopedia. What is robertsonian translocation? Meaning of robertsonian translocation as a legal term. What does robertsonian translocation mean in law?
Selective Chromatid Segregation Mechanism Explains the Etiology of Chromosome 11 Translocation-Associated Psychotic Disorders: A Review Abstract.
Chromosome translocations that form fusion transcripts and/or activate expression of genes by promoter insertion are key events in leukaemias and lymphomas, and mesenchymal tumours, but it has been fashionable to think they are irrelevant to the common epithelial cancers such as breast cancer. However, that view is now being challenged [1-4]; in particular, we have shown that NRG1 is translocated in breast cancers [3]. It seems likely that some translocations in breast cancers target specific genes at their breakpoints, and this is particularly likely for reciprocal translocations. ...
Translocation is the exchange of chromosome segments, usually between nonhomologous chromosomes. There are two primary types of translocations: reciprocal translocations and Robertsonian translocations. A reciprocal translocation occurs when segments from nonhomologous chromosomes break off, with segment attaching to the other chromosome and vice-versa. A Robertsonian translocation occurs when two acrocentric chromosomes (chromosomes with tiny short arms, meaning the centromere is near one end) fuse at the centromere and lose their short arms.. Reciprocal translocations usually involve only two chromosomes, meaning the total chromosome number is unchanged. Reciprocal translocation are typically harmless, despite being more common in individuals so retarded that they require institutional care. There are three kinds of reciprocal translocation: alternate; adjacent-1; and adjacent-2.. Robertsonian translocations lead to a balanced karyotype with only 45 chromosomes. Because acrocentric short arms ...
Genome instability, associated with chromosome breakage syndromes and most human cancers, is still poorly understood. In the yeast Saccharomyces cerevisiae, numerous genes with roles in the preservation of genome integrity have been identified. DNA-damage-checkpoint-deficient yeast cells that lack Sgs1, a RecQ-like DNA helicase related to the human Blooms-syndrome-associated helicase BLM, show an increased rate of genome instability, and we have previously shown that they accumulate recurring chromosomal translocations between three similar genes, CAN1, LYP1 and ALP1. Here, the chromosomal location, copy number and sequence similarity of the translocation targets ALP1 and LYP1 were altered to gain insight into the formation of complex translocations. Among 844 clones with chromosomal rearrangements, 93 with various types of simple and complex translocations involving CAN1, LYP1 and ALP1 were identified. Breakpoint sequencing and mapping showed that the formation of complex translocation types is
Translocations affecting chromosome subband 6p25.3 containing the IRF4 gene have been recently described as characteristic alterations in a molecularly distinct subset of germinal center B-cell-derived lymphomas. Secondary changes have yet only been described in few of these lymphomas. Here, we performed array-comparative genomic hybridization and molecular inversion probe microarray analyses on DNA from 12 formalin-fixed paraffin-embedded and two fresh-frozen IRF4 translocation-positive lymphomas, which together with the previously published data on nine cases allowed the extension of copy number analyses to a total of 23 of these lymphomas. All except one case carried chromosomal imbalances, most frequently gains in Xq28, 11q22.3-qter, and 7q32.1-qter and losses in 6q13-16.1, 15q14-22.31, and 17p. No recurrent copy-neutral losses of heterozygosity were observed. TP53 point mutations were detected in three of six cases with loss of 17p. Overall this study unravels a recurrent pattern of ...
Chromosome translocations in peripheral blood lymphocytes of normal, healthy humans increase with age, but the effects of gender, race, and cigarette smoking on background translocation yields have not been examined systematically. Further, the shape of the relationship between age and translocation frequency (TF) has not been definitively determined. We collected existing data from 16 laboratorie
Balanced reciprocal chromosomal translocations (RCTs) are the ones of the most common structural aberrations in the population, with an incidence of 1:625. RCT carriers usually do not demonstrate changes in phenotype, except when the translocation results in gene interruption. However, these people are at risk of production of unbalanced gametes during meiosis, as a result of various forms of chromosome segregation. This may cause infertility, non-implantation of the embryo, shorter embryo or foetus survival, as well as congenital defects and developmental disorders in children after birth. The increasing popularity of cytogenetic molecular techniques, such as microarray-based CGH (aCGH), contributed to the improved detection of chromosomal abnormalities in patients with intellectual disability, however, these modern techniques do not allow the identification of the balanced in potential carriers. Therefore, classical chromosome analysis with GTG technique still plays an important role in the
Hi there, I am researching chromosome 2 fusion theory. The theory that chromosome 2 and 3 was fused by a Robertsonian Translocation in two human-chimp common ancestors which mated giving us our chromosome 2 and 46 chromosomes instead of the other higher primates 48.. I was attempting to understand what the odds of this occurring were, to which end I want to know the odds that a chimp baby will be born with this mutation. I understand that 1 in 1000 human babies are born with a Robertsonian Translocation, is it the same for chimps?. ...
Robertsonian translocations (RBT) are associated with an increased risk of aneuploidy. Single RBT carriers are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion. However, double Robertsonian translocations (DRBT), in which two balanced RBT occur simultaneously, are an extremely rare condition. A 9-year-old mentally normal ...
This study demonstrates, with empirical evidence that experimental translocation leads to changes in the stress physiology of birds handled in a manner typical of many conservation activities. Furthermore, the effects of the progressive sequence of capture, handling, transport, captivity and release to a new location seem to be additive, meaning that the sequence of acute stressors typically associated with the process of translocation causes meaningful physiological stress in birds. Translocated chukar had decreased baseline CORT concentrations, a reduced capacity to mount a CORT response to an acute stressor, a decreased sensitivity to negative feedback and significant weight loss.. Interestingly, days elapsed prior to recapture was not associated with the magnitude of these changes, indicating that the changes to HPA function occurred quickly and persisted beyond the cessation of exposure to translocation-associated acute stressors. Unfortunately, our study did not allow follow-up beyond ...
Background: Robertsonian translocations are structural chromosomal abnormalities caused by fusion of two acrocentric chromosomes. In carriers of such translocatio...
A Robertsonian translocation is a chromosomal abnormality that generally doesnt cause health problems. However, it can affect pregnancy, especially when it results in a fetus with a genetic condition that is incompatible with life. Well tell you what you can do if you have or suspect you have this translocation.
Background: A long-term occupational exposure of healthcare staff to cytostatics and ionizing radiation is associated with a possible manifestation of their genotoxic, carcinogenic and teratogenic effects. Material and methods: A total number of 101 employees working with cytostatics or ionizing radiation were examined (some of them repeatedly) in a cancer treatment facility. The control group consisted of 118 persons excluded from the risk exposure. Fluorescence in situ hybridization with three pairs of whole-chromosomal probes and a pancrossomeric probe was used and the translocation frequency was determined. Results: The total number of chromosomal rearrangements of healthcare professionals and control group correlates with age. Taking into account the age dependence, an increased level of chromosomal reconstruction was found in the case of 11 individuals, 10 of which were female, working on the positions of pharmacist, general nurse, physician. Nine of those case involved the work with ...
This study is a case-control study of incident childhood leukemia (all subtypes) diagnosed since mid-1995. Children newly diagnosed with leukemia are enrolled in the study. Criteria for inclusion in the study are: under 15 years of age, no prior cancer diagnosis, residency in the state of California at the time of diagnosis, and availability of an English or Spanish speaking parent or guardian. Pre-treatment biological specimens, including bone marrow and peripheral blood, are obtained for analysis in the UCB lab of Dr M. Smith. The lab will use Fluorescence In Situ Hybridization (FISH) to detect chromosome specific aneuploidy and translocations. A number of chromosomal translocations, including t(9;22) and t(8;21), are known to be centrally involved in the development of childhood leukemia. Molecular characterization of the cases with translocations may provide insight into the timing of critical exposures and the nature of the etiological agent involved.. One comparison subject (control) is ...
Malignant lymphomas are classified based on morphology, immunophenotype, genetics and clinical features. The pathological diagnosis is generally considered difficult and prone to mistakes. Since non-random chromosomal translocations are specifically involved in specific entities, their detection is an important adjunct for increasing the reliability of the diagnosis. Recently, split-signal fluorescent in situ hybridization (FISH) has become available as a robust method to detect chromosomal breaks in paraffin embedded formalin fixed tissues. A bright field approach would bring this technology within the reach of every laboratory of pathology. Our study was initiated to prove consistency between chromogenic in situ hybridization (DuoCISH) and FISH, both using split signal probes developed for the detection of chromosomal breaks. 540 cases of 11 lymphoma entities and reactive, benign lymphoid tissues, collected from 8 different laboratories of pathology, placed on 15 FISH pre-stained tissue micro ...
This phase II MATCH trial studies how well treatment that is directed by genetic testing works in patients with solid tumors or lymphomas that have progressed following at least one line of standard treatment or for which no agreed upon treatment approach exists. Genetic tests look at the unique genetic material (genes) of patients tumor cells. Patients with genetic abnormalities (such as mutations, amplifications, or translocations) may benefit more from treatment which targets their tumors particular genetic abnormality. Identifying these genetic abnormalities first may help doctors plan better treatment for patients with solid tumors, lymphomas, or multiple myeloma ...
A very specific translocation causes Burkitts lymphoma, a cancer that plagues children in equatorial Africa. It involves a DNA break in an immune system antibody gene and the much more rare break in a cancer-promoting gene called c-myc. Previous work had shown that AID was responsible for breaking antibody genes but not c-myc. In fact, scientists thought a host of other factors might be involved in the c-myc break, but AID had been all but ruled out.. Despite the prior studies, Davide Robbiani, a research associate in Nussenzweigs lab and a Leukemia and Lymphoma Society Fellow, believed AID was the culprit. To prove it, he and his colleagues started by deleting the promoter region of the c-myc oncogene, rendering the gene inactive, in a mutant line of mice. By looking for -- and not finding -- the specific translocation in these mice, he showed that c-myc had to be active in order for its DNA break to take place.. He then inserted a DNA tag into the mouse genome that allowed him to induce a ...
Aims: The object of the present study was to develop a novel multiplex reverse transcription-polymerase chain reaction (RT-PCR)-based assay to detect four common recurrent chromosomal translocations t(9;22)(q34;q11), t(15;17)(q22;q12), t(8;21)(q22;q22), and t(1;19)(q23;q13). Results: This novel multiplex RT-PCR method can specifically detect these six positive plasmids with known transcripts, and the sensitivities ...
Research Interests. Genetic aberrations are important indicators of prognosis in acute lymphoblastic leukaemia (ALL) and are widely used in risk stratification. Translocations involving the immunoglobulin heavy chain locus (IGH) are hallmarks of mature B-cell malignancies, where they drive pathogenesis. IGH translocations have been described in B-cell precursor ALL (BCP-ALL), where they target different genes with the same consequence; the partner gene is overexpressed as a result of its close proximity to the IGH enhancer. We have previously reported recurrent BCP-ALL translocation partner genes including five members of the CCAAT/enhancer binding protein (CEBP) family of transcription factors, showing opposing functions for deregulation in myeloid and lymphoid leukemogenesis; the inhibitory transcription factor, ID4, in the translocation, t(6;14)(p22;q32), defining a subgroup characterized by deletion of CDKN2A/B and PAX; the cytokine receptor for erythropoietin (EPOR) at 19p13; type I ...
Notch homolog 1, translocation-associated (Drosophila), also known as NOTCH1, is a human gene encoding a single-pass transmembrane receptor.
In this application, we propose to elucidate the molecular function of ATM in suppression of oncogenic translocations in developing lymphocytes and generate nov...
The chromosomal translocation t(1;19)(q23;p13) and its variant form der(19)t(1;19) found in 3-5% of acute lymphoblastic leukemia (ALL) results in the expression of the E2A-PBX1 fusion transcript. Although strongly associated with a pre-B immunophenotype, we report the occurrence of t(1;19) in bone m …
In this study, we have reported a means to specifically prevent p42/p44MAPK nuclear translocation without affecting its activation. Different methods can theoretically be used to achieve the blockage of MAPK nuclear translocation. The one we employed here was to create an artificial anchor for MAPK based on two criteria: a specific interaction with MAPK and a cytoplasmic localization. Several proteins could possibly fulfil the criteria to create a cytoplasmic anchor for MAPK. For instance, the activator of MAPK, MKK1, is a cytoplasmic protein that also binds specifically to MAPK (Bardwell et al., 1996; Fukuda et al., 1997) and has therefore been proposed to play the role of an MAPK anchor in vivo (Fukuda et al., 1997). Moreover expression of MKK1 in Xenopus has been shown to impair MAPK nuclear translocation (Fukuda et al., 1997). However, in our fibroblast CCL39 cell line, the ability of MKK1 expression to prevent MAPK nuclear translocation was much weaker than that of inactive MKP‐3. This ...
STAU1 - STAU1 (untagged)-Human staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T1 available for purchase from OriGene - Your Gene Company.
does anyone have any information about the translocation of these two chromosomes? it seems to be a partial translocation only two thirds of each was translocated. any info on viability of a fetus would be greatly appreciated thank-you very much ...
Induction of t(11;14) IgH enhancer/promoter-cyclin D1 gene translocation using CRISPR/Cas9. Tsuyama N, Abe Y, Yanagi A, Yanai Y, Sugai M, Katafuchi A, Kawamura F, Kamiya K, Sakai A. Oncol Lett. 2019 Jul;18(1):275-282. doi: 10.3892/ol.2019.10303. Epub 2019 May 2. ...
I am a 42-year-old woman struggling with infertility from a Robertsonian Translocation. My husband is 36 and we have been trying to get pregnant for two years
I am a 42-year-old woman struggling with infertility from a Robertsonian Translocation. My husband is 36 and we have been trying to get pregnant for two years
The term translocation is used when the location of specific chromosome material changes. There are two main types of translocations: reciprocal and Robertsonian
The FATE gene maps to Xq28 where one case of a translocation breakpoint has been found in an infertile man. Moreover, the FATE promoter contains a putative SF-1-binding site, and F
The Summative Study of the Nano Mini-exhibition took place during the spring and summer of 2012. After being observed during their Mini-exhibition experience, 455 visitors across six different partner institutions participated in surveys and interviews with NISE Net evaluation team ...
TY - JOUR. T1 - Fusion of the nucleoporin gene NUP98 to HOXA9 by the chromosome translocation t(7;11)(p15;p15) in human myeloid leukaemia. AU - Nakamura, Takuro. AU - Largaespada, David A.. AU - Lee, Maxwell P.. AU - Johnson, Laura A.. AU - Ohyashiki, Kazuma. AU - Toyama, Keisuke. AU - Chen, Sai Juan. AU - Willman, Cheryl L.. AU - Chen, I. Ming. AU - Feinberg, Andrew P.. AU - Jenkins, Nancy A.. AU - Copeland, Neal G.. AU - Shaughnessy, John D.. N1 - Copyright: Copyright 2007 Elsevier B.V., All rights reserved.. PY - 1996/2. Y1 - 1996/2. N2 - Expression of Hoxa7 and Hoxa9 is activated by proviral integration in BXH2 murine myeloid leukaemias. This result, combined with the mapping of the HOXA locus to human chromosome 7p15, suggested that one of the HOXA genes might be involved in the t(7;11)(p15;p15) translocation found in some human myeloid leukaemia patients. Here we show that in three patients with t(7;11), the chromosome rearrangement creates a genomic fusion between the HOXA9 gene and the ...
Clinical features in patients with segmental aneuploidy often vary depending on the size of the chromosomal segment involved. Monosomy 2p is usually observed as a part of more complex syndromes among probands of balanced reciprocal translocation carriers. Patients with dup4q syndrome have variable clinical features, which are both related to the size of duplicated segment of the 4q and specific associated monosomy. Clinical findings of our patient were compatible with those previously reported in dup4q and del2p patients. Herein are presented the clinical and cytogenetic findings in a 4-year-old female with an unbalanced karyotype 46,XX,der(2)t(2;4)(p25.1;q31.3)pat. Clinical phenotypes of 2p;4q translocation cases are variable, because the involved breakpoints vary case-by-case. We also compare similarity of the clinical features of our proband and other patients carrying either duplication of the distal part of 4q and patients carrying a deletion of distal part of 2p as described in the ...
ABL1 gene translocations can be seen in precursor T-acute lymphoblastic leukemia (T-ALL). The typical translocation partner is the NUP214 gene. BCR-ABL translocations are relatively rare in this entity. Furthermore, while there have been unique patterns of amplification noted among the NUP214-ABL fusion genes, there have been few such reports among cases with BCR-ABL fusion genes. Here we report a unique case of a 44-year old patient with T-ALL in which the blasts demonstrated a derivative chromosome 9 involving a 9;22 translocation and a dicentric Philadelphia chromosome 22 with a homogeneously staining region at the interface of the 9;22 translocation, leading to BCR-ABL1 gene amplification. Fluorescence in-situ hybridization (FISH) showed abnormal BCR/ABL1 fusions with the BCR-ABL1 gene amplification in 48% of the interphase cells analyzed. The translocation was confirmed by SNP array. We present a novel derivative chromosome 9 that shows BCR-ABL gene fusion along with a dicentric Philadelphia
INTRODUCTION Acute myeloid leukemias with MLL rearrangements are frequently associated with myelomonocytic and monoblastic/monocytic morphology, with an increased risk of leukocytosis and leukostasis-related complications. Yet, little is known regarding the clinical presentation of adult AML patients with MLL translocations based on the specific translocation partner. PATIENTS AND METHODS Two recent AML cases with t(10;11)(p12;q23) translocations are detailed, with their shared presenting symptoms highlighted, followed by a review of the current literature. RESULTS The specific t(10;11)(p12;q23) MLL translocation is a rare recurrent translocation partner, most commonly seen in pediatric and young adult AML. A high incidence of early morbidity from leukocytosis-related complications are frequently seen, including diffuse intravascular coagulation and tumor lysis syndrome with multiorgan system failure, even without a true leukocytosis. CONCLUSION With prompt therapy and intensive supportive care
Nonhomologous end-joining (NHEJ) repairs DNA double-strand breaks (DSBs) during V(D)J recombination in developing lymphocytes and during immunoglobulin (Ig) heavy chain (IgH) class switch recombination (CSR) in peripheral B lymphocytes. We now show that CD21-cre-mediated deletion of the Xrcc4 NHEJ gene in p53-deficient peripheral B cells leads to recurrent surface Ig-negative B lymphomas (CXP lymphomas). Remarkably, CXP lymphomas arise from peripheral B cells that had attempted both receptor editing (secondary V[D]J recombination of Igκ and Igλ light chain genes) and IgH CSR subsequent to Xrcc4 deletion. Correspondingly, CXP tumors frequently harbored a CSR-based reciprocal chromosomal translocation that fused IgH to c-myc, as well as large chromosomal deletions or translocations involving Igκ or Igλ, with the latter fusing Igλ to oncogenes or to IgH. Our findings reveal peripheral B cells that have undergone both editing and CSR and show them to be common progenitors of CXP tumors. Our ...
Genotype-phenotype correlations for chromosomal imbalances are often limited by overlapping effects of partial trisomy and monosomy resulting from unbalanced translocations and by poor resolution of banding analysis for breakpoint designation. Here we report the clinical features of isolated partial trisomy 7q21.2 to 7q31.31 without overlapping phenotypic effects of partial monosomy in an 8 years old girl. The breakpoints of the unbalanced rearranged chromosome 7 could be defined precisely by array-CGH and a further imbalance could be excluded. The breakpoints of the balanced rearranged chromosomes 9 and 10 were identified by microdissection of fluorescence labelled derivative chromosomes 9 and 10. The probands mother showed a complex balanced translocation t(9;10)(p13;q23) with insertion of 7q21.2-31.31 at the translocation breakpoint at 9p13. The daughter inherited the rearranged chromosomes 9 and 10 but the normal chromosome 7 from her mother, resulting in partial trisomy 7q21.2 to 7q31.31. The
The truncated chromosome 22 that results from the reciprocal translocation t(9;22)(q34;q11) is known as the Philadelphia chromosome (Ph) and is a hallmark of chronic myeloid leukemia (CML). In leukemia cells, Ph not only impairs the physiological signaling pathways but also disrupts genomic stability. This aberrant fusion gene encodes the breakpoint cluster region-proto-oncogene tyrosine-protein kinase (BCR-ABL1) oncogenic protein with persistently enhanced tyrosine kinase activity. The kinase activity is responsible for maintaining proliferation, inhibiting differentiation, and conferring resistance to cell death. During the progression of CML from the chronic phase to the accelerated phase and then to the blast phase, the expression patterns of different BCR-ABL1 transcripts vary. Each BCR-ABL1 transcript is present in a distinct leukemia phenotype, which predicts both response to therapy and clinical outcome. Besides CML, the Ph is found in acute lymphoblastic leukemia, acute myeloid leukemia, and
TY - JOUR. T1 - Risk of non-Hodgkin lymphoma associated with germline variation in genes that regulate the cell cycle, apoptosis, and lymphocyte development. AU - Morton, Lindsay M.. AU - Purdue, Mark P.. AU - Zheng, Tongzhang. AU - Wang, Sophia S.. AU - Armstrong, Bruce. AU - Zhang, Yawei. AU - Menashe, Idan. AU - Chatterjee, Nilanjan. AU - Davis, Scott. AU - Lan, Qing. AU - Vajdic, Claire M.. AU - Severson, Richard K.. AU - Holford, Theodore R.. AU - Kricker, Anne. AU - Cerhan, James R.. AU - Leaderer, Brian. AU - Grulich, Andrew. AU - Yeager, Meredith. AU - Cozen, Wendy. AU - Zahm, Shelia Hoar. AU - Chanock, Stephen J.. AU - Rothman, Nathaniel. AU - Hartge, Patricia. PY - 2009/4/1. Y1 - 2009/4/1. N2 - Chromosomal translocations are the hallmark genetic aberration in non-Hodgkin lymphoma (NHL), with specific translocations often selectively associated with specific NHL subtypes. Because many NHL-associated translocations involve cell cycle, apoptosis, and lymphocyte development regulatory ...
TY - JOUR. T1 - A stochastic model for DNA translocation through an electropore. AU - Yu, Miao. AU - Tan, Wenchang. AU - Lin, Hao. N1 - Funding Information: The authors acknowledge funding support from an NSF Award CBET-0747886 with Dr. William Schultz and Dr. Henning Winter as contract monitors. PY - 2012/11. Y1 - 2012/11. N2 - A 1D Fokker-Planck simulation of DNA translocation through an electropore under finite pulses is presented. This study is motivated by applications relevant to DNA electrotransfer into biological cells via electroporation. The results review important insights. The translocation may occur on two disparate time scales, the electrophoretic time (~ ms), and the diffusive time (~ s), depending on the pulse length. Furthermore, a power-law correlation is observed, F-PST ~ (Vmtp)a/Nb, where F-PST is the final probability of successful translocation, Vm is the transmembrane potential, tp is the pulse length, and N is the DNA length in segments. The values for a and b are close ...
TY - JOUR. T1 - Human ERG is a proto-oncogene with mitogenic and transforming activity. AU - Hart, A. H.. AU - Corrick, C. M.. AU - Tymms, M. J.. AU - Hertzog, P. J.. AU - Kola, I.. PY - 1995/1/1. Y1 - 1995/1/1. N2 - The ETS related gene, ERG, is one of 20 or more genes belonging to the ETS family of transcription factors. Translocation of the ERG gene t(21;22) results in the chimeric fusion transcript seen in approximately 10% of Ewings sarcomas. In addition, recent studies have shown that a reciprocal translocation t(21;16) of ERG gives rise to two aberrant transcripts seen in some forms of acute myeloid leukaemia. In vitro studies have linked the up regulation of ERG expression with stromal cell independence in erythroleukemic clones and shown that the ERG related genes ETS1 and ETS2 have a mitogenic and transforming activity when overexpressed in NIH3T3 cells. Interestingly ERGB/FLI-1, which is also involved in Ewings sarcoma translocations and shares a very high sequence identity with ERG ...
Definition : Molecular assay reagents intended for use in identifying exchanges (i.e., translocations) between chromosome 11 band q23 and chromosome 19 band p13.3, usually involving genes MLL and ENL, respectively. This translocation is present in patients with both acute lymphoblastic leukemia and acute nonlymphocytic leukemia (ALL and ANLL, respectively); most cases are found in infants (congenital leukemia). Its detection may be used as a tumor marker.. Entry Terms : Congenital Leukemia Diagnostic Reagents , Acute Non-Lymphocytic Leukemia Diagnostic Reagents , Acute Lymphoblastic Leukemia Diagnostic Reagents , Leukemia Diagnostic Reagents , Chromosome Translocation t(11;19)(q23p13.3) Detection Reagents , Reagents, Molecular Assay, Chromosome Anomaly, Translocation, t(11;19)(q23p13.3). UMDC code : 24056 ...
TY - JOUR. T1 - Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13. AU - Stetten, G.. AU - Tuck-Muller, C. M.. AU - Blakemore, Karin. AU - Wong, C.. AU - Kazazian, Haig. AU - Antonarakis, S. E.. PY - 1990. Y1 - 1990. UR - http://www.scopus.com/inward/record.url?scp=0025670533&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0025670533&partnerID=8YFLogxK. M3 - Article. C2 - 2077349. AN - SCOPUS:0025670533. VL - 7. SP - 479. EP - 484. JO - Molecular Biology and Medicine. JF - Molecular Biology and Medicine. SN - 0735-1313. IS - 6. ER - ...
There is a long and growing list of gene translocation events that are linked to cancer. Whether the result of intra- or interchromosomal exchanges, these translocations commonly involve genes encoding a kinase or a transcription factor. The resulting fusion genes are often the principal drivers of tumorigenesis and therefore serve as diagnostic markers and/or targets for specific therapies (e.g., kinase inhibitors). Fusion mRNAs from translocation events can be detected by highly sensitive methodologies based on polymerase chain reaction (PCR); however, these approaches can be frustrated by the fact that a particular target gene may be fused to any of more than a dozen different partner genes, requiring numerous primers to cover all possible fusion events. In contrast, FISH can detect a translocation-related break in a target gene irrespective of which partner gene has been fused to it. This is done by labeling two pools of probes with different fluorophores; for example, one pool may be ...
Double strand breaks in DNA are the initiating lesion for the translocation events that underlie the genome instability that causes cancer. However, the three dimensional organisation of the genetic material within the nucleus also influences the outcome of translocations because proximity of DNA strands increases the risk of their inappropriate joining. DNA replication has a dramatic effect both on break formation and on 3D nuclear organisation, but its roles in oncogenic translocations are undefined.. My group has a longstanding interest in DNA replication and its regulation. We have recently developed new techniques (Repli3C, Repli4C and Repli-C) to analyse the changes in genome organisation that accompany DNA replication. These methodologies are similar to the existing techniques of chromosome conformation capture (3C, 4C, Hi-C) but with the addition of EdU incorporation and affinity purification to enrich for newly replicated regions. In this project we will optimise and refine these ...
Translocation t(8;16)(p11;p13) is found in 6.5% of acute myeloid leukemias (AML) of the M4/M5 FAB subtype. These poor prognosis AML are associated with erythrophagocytosis in blast cells. The translocation fuses MYST3/MOZ on chromosome region 8p11, which encodes a histone acetyltransferase (HAT), to CBP/CREBBP on chromosome region 16p13, which encodes a transcriptional co-activator and acetyltransferase. 1-4 Reverse transcriptase-polymerase chain reaction (RT-PCR) identified three types of MYST3-CBP and CBP-MYST3 fusion transcripts in some previous studies,1-7 but was unsuccessful in some others suggesting the existence of translocation variants.1,8,9 We describe here two new types of MYST3-CBP fusion transcripts.. Patient #1, a 55-year old female presented with AML-M5a 2 years after breast cancer. The white blood cell (WBC) count was 2.9×109/L with 17% blast cells. The bone marrow aspirate was hypercellular with 90% of monocytic blast cells with features of erythrophagocytosis. The karyotype ...
TY - JOUR. T1 - Molecular and clinical characterization of a recurrent cryptic unbalanced t(4q;18q) resulting in an 18q deletion and 4q duplication. AU - Horbinski, Craig. AU - Carter, Erika M.. AU - Heard, Patricia L.. AU - Sathanoori, Malini. AU - Hu, Jie. AU - Vockley, Jerry. AU - Gunn, Shelly. AU - Hale, Daniel. AU - Surti, Urvashi. AU - Cody, Jannine D.. PY - 2008/11/15. Y1 - 2008/11/15. N2 - Recurrent constitutional non-Robertsonian translocations are very rare. We present the third instance of cryptic, unbalanced translocation between 4q and 18q. This individual had an apparently normal karyotype; however, after subtelomere fluorescence in situ hybridization (FISH), he was found to have a cryptic unbalanced translocation between 4q and 18q [ish der(18)t(4;18)(q35;q23) (4qtel+, 18qtel-)]. Oligonucleotide array comparative genomic hybridization (aCGH) refined the breakpoints in this child and in the previously reported child and indicated that the breakpoints were within 20 kb of each ...
Synovial sarcoma is an aggressive soft tissue tumor characterized by a specific chromosomal translocation between chromosome 18 and X. This translocation can generate a fusion transcript encoding SYT-SSX1, a transforming oncoprotein. We present evidence that SYT-SSX1 induces insulin-like growth fact …
Aside: On Collagen Pages 601-602. Just a word about the protein collagen, which may form more that 50% by weight of certain tissues in your body. This is an extracellular fibrillar polymer, which has some similar functions to cellulose in plants, but which is built of protein (not polysaccharide).. The textbook tells you some neat things about this molecule, which is neat especially if you are , for example, double-jointed. The textbook does not tell you of the relevance to collagen to our present topic.. Collagen differs from other most other proteins, but is similar to a few others like keratin and elastin, because it contains two modified amino acids (hydroxyproline and hydroxylysine). Both of these amino acids are coded normally on the rough ER, as proline and lysine BUT as they are transferred to the ER, some of these amino acids are hydroxylated by an enzyme which is part of the translocation machinery in the ER membrane.. So, it is important to understand that translocation may also ...
Children with Down syndrome (DS) have a markedly increased risk of acute lymphoblastic and myeloid leukemias (ALL+AML). To identify chromosomal changes cooperating with +21 that may provide information on the pathogenesis of these leukemias, we analyzed 215 DS-ALL and 189 DS-AML. Unlike previous smaller series, a significant proportion of DS-ALL had the typical B-cell precursor ALL abnormalities high hyperdiploidy (HeH; 11%) and t(12;21)(p13;q22) (10%). The HeH DS-ALL were characterized by gains of the same chromosomes as non-DS-HeH, suggesting the same etiology/pathogenesis. In addition, specific genetic subtypes of DS-ALL were suggested by the significant overrepresentation of cases with +X, t(8;14)(q11;q32), and del(9p). Unlike DS-ALL, the common translocations associated with non-DS-AML were rare in DS-AML, which instead were characterized by the frequent presence of dup(1q), del(6q), del(7p), dup(7q), +8, +11, del(16q), and +21. This series of DS leukemias - the largest to date - reveals ...
The JNK signaling pathway is activated when cells such as neurons are exposed to environmental stress. The JIP proteins are likely to act in this pathway because they bind to JNK, as well as to upstream activators of JNK. A report from Whitmarsh et al. now strengthens the argument that JIPs are scaffolding proteins that coordinate the formation of a JNK-activating module. JIP1 localized to the cell body and to the growth-cone tips of extended neurites in unstimulated murine hippocampal neurons, but upon exposure to various stress stimuli, JIP1 relocalized to the perinuclear region where activated JNK was also found. Neurons from a JIP1-null mouse did not demonstrate stress-induced JNK activation or apoptosis, demonstrating that JIP is required for JNK activation in vivo. Because JIP1 was isolated in a complex with kinesin from mouse brain tissue, the authors speculate that JIP translocation may involve cellular motor proteins. Such a transport mechanism may facilitate signal transduction from ...
The transcription factor RUNX1/AML1 is an important regulator of hematopoiesis and RUNX1 gene is one of the most frequent target of chromosomal translocations in cells of the myeloid lineage [1]. Interestingly, the RUNX1 gene covers 260 kbp of chromosome 21 but surprisingly, all genomic breakpoints for the leukemia causing translocations (8; 21) and (16;21) are found in intron 5 of the gene [2]. Presently, factors involved in maintaining the structural integrity and/or enhancing susceptibility of these regions to undergo recombination are unknown. Moreover, the breakpoint junctions are devoid of common DNA motifs that can explain the high recombination frequency observed. Interestingly however, topoisomerase II and DNase I hypersensitive sites have been found to correlate with breakpoints suggesting that chromatin organization may be responsible for, or contribute to, chromosomal translocation formation [3, 4]. DNA regions that exhibit DNase I hypersensitivity have been extensively associated ...
This software draws an image for one chromosomal rearrangement.. Enter the description of ONE rearrangement (in numbers: 1; it is exactly 1, not 2, not 3!) giving raise to one or more derivative chromosome(s) in the text field below, select the desired map viewer with which chromosomal bands are to be linked, banding resolution and color style, then click Draw. The CyDAS software will then compute an image map containing the ideogram(s) of the derivative chromosome, with links to the NCBI or Ensembl map viewer.. It is absolutely indispensible that break points are specified; denoting them at a lower resolution than the resolution for the image may yield inconsistencies. Ring chromosomes are shown linearized.. Hint: a complete karyogram can be drawn with the example program #4.. ...
Introduction: EWS-FLI1 and related chromosomal translocations are prevalent in Ewing sarcoma and play a major role in modulating oncogenic transcription. Development of drugs that affect EWS-FLI1 oncoprotein function may lead to successful treatment for these patients. Mithramycin (MTM) was shown to inhibit transcriptional targets of EWS-FLI1, but it has a narrow therapeutic window attributed to its nonspecific toxicities. To overcome this, semisynthetic methods were developed to generate MTM analogs with unique pharmacologic properties. Mechanistic and pharmacologic studies are presented here.. Methods: Studies were conducted using MTM and lead analogs (mithramycin-SK (MTM-SK), mithramycin-SA-tryptophan (MTM-SA-Trp), and mithramycin-SA-phenylalanine (MTM-SA-Phe)). EWS-FLI1 promoter occupancy was investigated using chromatin immunoprecipitation real-time PCR (ChIP-RTPCR). The effect of drug treatment on expression of genes controlled by EWS-FLI1 was evaluated by quantitative real-time PCR ...
TY - JOUR. T1 - Translocation t(1;19)(q23;p13) in adult acute lymphoblastic leukemia-a distinct subtype with favorable prognosis. AU - Yilmaz, Musa. AU - Kantarjian, Hagop M.. AU - Toruner, Gokce. AU - Yin, C. Cameron. AU - Kanagal-Shamanna, Rashmi. AU - Cortes, Jorge E.. AU - Issa, Ghayyas. AU - Short, Nicholas J.. AU - Khoury, Joseph D.. AU - Garcia-Manero, Guillermo. AU - Ravandi, Farhad. AU - Kadia, Tapan. AU - Konopleva, Marina. AU - Wierda, William G.. AU - Jain, Nitin. AU - Estrov, Zeev. AU - Sasaki, Koji. AU - Pierce, Sherry. AU - OBrien, Susan M.. AU - Jabbour, Elias J.. PY - 2020. Y1 - 2020. N2 - The recurring translocation t(1;19) (q23;p13) with TCF3-PBX1 rearrangements are uncommon in adult acute lymphoblastic leukemia (ALL), and their prognostic impact remains to be described in the era of modern chemotherapies. We investigated 427 adult patients with newly diagnosed pre-B ALL, 16 (4%) had t(1;19)(q23;p13) at diagnosis. All 16 patients achieved complete remission after induction ...
MNX1 is a homeodomain containing transcription factor that has been implicated in the development of a number of human diseases. Loss of function mutations of MNX1 were identified as the primary cause of the rare inherited Currarino syndrome, which includes the development of sacral masses, often teratomas. In one fourth of infant acute myeloid leukaemia (AML) cases the gene is involved in a t(7;12) translocation. In most cases, the translocation leads to the fusion of MNX1 with ETV6 (located on chromosome 12). In other cases, the breakpoint on chromosome 7 is centromeric to the MNX1 locus, but involves a concomitant deletion of the distal portion of chromosome 7q, including MNX1. Thus, a common feature of the chromosome 7 aberration is the inactivation of one copy of MNX1. Furthermore, the MNX1 promoter is frequently hypermethylated, and transcriptionally inactivated, in childhood and adult acute lymphoblastic leukaemia (ALL) (33% of childhood and 39% of adult cases). The present work ...
Homeobox protein Hox-A9 is a protein that in humans is encoded by the HOXA9 gene. In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is highly similar to the abdominal-B (Abd-B) gene of Drosophila fly. A specific translocation event which causes a fusion between this gene and the NUP98 gene has been associated with myeloid leukemogenesis. As HOXA9 dysfunction has been implicated in acute myeloid leukemia, and expression of the gene has been shown to differ markedly between erythrocyte lineages of different stages of development, the gene is of particular interest from a hematopoietic perspective. As HOXA9 is ...
It is clear that, although we have learned much about the biology of MM, many questions remain. All of the available data suggest that IgH translocations are present in a majority (∼50-60%) of tumors, yet are not sufficient to exert the full malignant potential of the clone. Although early dysregulation of cyclin D1, D2, or D3 may represent a unifying event, it seems likely that two distinct pathways exist in the pathogenesis of MM. One pathway appears to involve an early IgH translocation that usually includes one of the four recurrent partners (11q13, 4p16, 16q23, 6p21), and mostly is associated with a nonhyperdiploid chromosome content. The second pathway infrequently, if ever, involves an early IgH translocation but mostly is associated with a hyperdiploid chromosome content, perhaps a reflection of intrinsic genetic instability, although we have virtually no understanding of this pathway. The timing and nature of additional genetic events that are involved in early pathogenesis is ...
OBJECTIVE: The Philadelphia (Ph) chromosome, consisting of the t(9;22)(q34;q11) translocation, is observed in ~90% of patients with chronic myeloid leukemia (CML). Variant Ph translocations are observed in 5%-10% of CML patients. In variant translocations 3 and possibly more chromosomes are involved. Herein we report 6 CML patients with variant Ph translocations.METHODS: Bone marrow samples were examined using conventional cytogenetic meth ods. Fluorescence in situ hybridization (FISH) with whole-chromosome paints and BCR-ABL 1D probes were used to confirm and/or complement the findings, and identify rearrangements beyond the resolution of conventional cytogenetic methods. RESULTS: Variant Ph translocations in the 6 patients were as follows: t(7;22)(p22;q11), t(9;22;15)(q34;q11;q22), t(15;22)(p11;q11), t(1;9;22;3)(q24;q34;q11;q21), t(12;22)(p13;q11), and t(4;8;9;22)(q11;q13;q34;q11).CONCLUSION: Among the patients, 3 had simple and 3 had complex variant Ph translocations. Two of the presented ...
Intra-cellular and inter-cellular protein translocation can be observed by microscopic imaging of tissue sections prepared immunohistochemically. A manual densitometric analysis is time-consuming, subjective and error-prone. An automated quantification is faster, more reproducible, and should yield results comparable to manual evaluation. The automated method presented here was developed on rat liver tissue sections to study the translocation of bile salt transport proteins in hepatocytes. For validation, the cholestatic liver state was compared to the normal biological state. An automated quantification method was developed to analyze the translocation of membrane proteins and evaluated in comparison to an established manual method. Firstly, regions of interest (membrane fragments) are identified in confocal microscopy images. Further, densitometric intensity profiles are extracted orthogonally to membrane fragments, following the direction from the plasma membrane to cytoplasm. Finally, several
Burkitt lymphoma (BL) is the most common B-cell lymphoma in children. Within the International Cancer Genome Consortium (ICGC), we performed whole genome and transcriptome sequencing of 39 sporadic BL. Here, we unravel interaction of structural, mutational, and transcriptional changes, which contribute to MYC oncogene dysregulation together with the pathognomonic IG-MYC translocation. Moreover, by mapping IGH translocation breakpoints, we provide evidence that the precursor of at least a subset of BL is a B-cell poised to express IGHA. We describe the landscape of mutations, structural variants, and mutational processes, and identified a series of driver genes in the pathogenesis of BL, which can be targeted by various mechanisms, including IG-non MYC translocations, germline and somatic mutations, fusion transcripts, and alternative splicing ...
Burkitt lymphoma (BL) is the most common B-cell lymphoma in children. Within the International Cancer Genome Consortium (ICGC), we performed whole genome and transcriptome sequencing of 39 sporadic BL. Here, we unravel interaction of structural, mutational, and transcriptional changes, which contribute to MYC oncogene dysregulation together with the pathognomonic IG-MYC translocation. Moreover, by mapping IGH translocation breakpoints, we provide evidence that the precursor of at least a subset of BL is a B-cell poised to express IGHA. We describe the landscape of mutations, structural variants, and mutational processes, and identified a series of driver genes in the pathogenesis of BL, which can be targeted by various mechanisms, including IG-non MYC translocations, germline and somatic mutations, fusion transcripts, and alternative splicing ...
in Cancer Genetics & Cytogenetics (2006), 166(1), 1-11. Chromosome 21 is frequently rearranged in hematopoietic malignancies. In order to detect new chromosomal aberrations, the Groupe Francais de Cytogenetique Hematologique collected a series of 107 patients ... [more ▼]. Chromosome 21 is frequently rearranged in hematopoietic malignancies. In order to detect new chromosomal aberrations, the Groupe Francais de Cytogenetique Hematologique collected a series of 107 patients with various hematologic disorders and acquired structural abnormalities of the long arm of chromosome 21. The abnormalities were subclassified into 10 groups, according to the location of the 21q breakpoint and the type of abnormality. Band 21q22 was implicated in 72 patients (excluding duplications, triplications, and amplifications). The involvement of the RUNX1 gene was confirmed in 10 novel translocations, but the gene partners were not identified. Eleven novel translocations rearranging band 21q22 with hands 1q25, ...
Most of the time, Down syndrome isnt inherited. Its caused by a mistake in cell division during early development of the fetus.. Translocation Down syndrome can be passed from parent to child. However, only about 3 to 4 percent of children with Down syndrome have translocation and only some of them inherited it from one of their parents.. When balanced translocations are inherited, the mother or father has some rearranged genetic material from chromosome 21 on another chromosome, but no extra genetic material. This means he or she has no signs or symptoms of Down syndrome, but can pass an unbalanced translocation on to children, causing Down syndrome in the children.. ...
After a fairly normal and easy labor and delivery, Cal made his debut! He wasnt breathing well on his own and needed respiratory support. Because we knew he might be born with some abnormalities, we had lots of doctors ready to care for him right when he was born. A heart echo was one of the things they did right away, and the results came back showing quite a few defects with his little heart. At that point it was pretty clear he had the unbalanced chromosome translocation, but the microarray test results confirming this would take over a week to get back ...
Researchers at the UC San Diego School of Medicine have pinpointed a mechanism that may help explain how chromosomal translocations - the supposedly random shuffling of large chunks of DNA that frequently lead to cancer - arent so random after all. They have developed a model of such chromosomal mix-ups in prostate cancer which indicates that the male sex hormone (androgen) receptor unexpectedly plays a key role in driving specific translocations in the development of cancer.
The data presented in this study demonstrate that activation of PKC-ε on stimulation of the A1R in the rat or mouse heart elicits the translocation of the kinase to a RACK2 protein of the cardiomyocyte. Previously, we reported A1R activation promotes the translocation of PKC-ε, but not PKC-δ, to the t-tubules of the cardiomyocyte (30). The present data indicate that RACK2 was the target protein for this translocation. Our present observations include the measurement of contractile activity of isolated cardiomyocytes and the visualization with imaging (rat) and coimmunoprecipitation of the kinase and RACK2 (rat and mouse). Translocation of PKC-ε to RACK2 occurred whether the PKC-ε was activated nonspecifically by a phorbol ester, or by A1R activation with PIA, or with the selective agonist CCPA. The action induced by CCPA was selective for the A1R, as indicated by the inhibition elicited by the A1R antagonist DPCPX. Furthermore, PKC-ε translocation most likely results from an A1R-induced ...
Fish strains: The AB strain (Chakrabartiet al. 1983) was used in the screens that identified cycb213 and cycb229. Other strains used to produce hybrids for mapping include DAR, Tü, and TL (Postlethwaitet al. 1994; Haffteret al. 1996).. Nomenclature: We followed previous linkage group designations (Postlethwaitet al. 1994; Johnsonet al. 1996). Each linkage group corresponds to a different chromosome because each has been assigned a centromere (Johnsonet al. 1996).. Following guidelines for Drosophila rearrangements, the b213 reciprocal translocation is described as T(LG2;LG12)b213, and the two elements of the translocation are termed T(LG2; LG12)b213, 2P12D (for the rearranged chromosome with the centromere-proximal segment of LG 2 and distal segment of LG 12) and T(LG2;LG12)b213, 12P2D. Segregation of these rearranged chromosomes and their normal order counterparts results in euploid and aneuploid meiotic products (see Figure 7). For convenience of discussion, we refer to the haploid genotype ...
Results: Positive for IgH/CCND1 fusion(19%). INTERPRETATION: There was no cytogentic evidence of an abnormal clone in this bone marrow specimen at this band level. However, adjunct FISH studies detected a rearrangement of the IgH region at 4q32 in 31% of the interphase cells from this specimen. Subsequent studies revealed variant IgH/CCND1 fusion in 19% of the cells analyzed. Specifically, there results are positive for a variant t(11;14). Additional studies were negative for a t(14;16), trisomies 9, 11, and 15 and for deletions of 6q21, 13q14, 13q34 and 17p13.1. ...
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Labeled FISH probes for identification of gene translocation using Fluorescent In Situ Hybridization Technique. (Technology) (FT0011) - Products - Abnova
Blood 2016 128(22); 2685. Background: The chromosomal translocation t(7;11)(p15,p15) encodes the oncogenic transcription factor NUP98-HOXA9 which results in a fusion of the nucleoporin 98kDa (NUP98) and homeobox A9 (HOXA9) genes. The oncogenic mechanisms underlying this translocation remain poorly understood and patients are currently inadequately served by traditional cytotoxic chemotherapy regimens.. Aims:To decipher the underlying biology of the NUP98-HOXA9 fusion protein and develop rational therapeutic strategies targeting its oncogenic mechanism. Methods: Human cellular models expressing NUP98-HOXA9, HOXA9 wt or NUP98 wt were established by retroviral transduction of HEK293FT human cell line and human hematopoietic progenitors (CD34+, hHP) isolated from donor cord blood. Chromatin immunoprecepitation experiments followed by sequencing (ChIP-seq) and quantitative ChIP (qChIP) were used to define fusion specific binding locations. Cloning regulatory regions of selected target genes in a ...
IGH translocations induce up-regulation of different oncogenes order propecia 1 mg on line hair loss 6 months after giving birth, it is Learning Objectives possible that all IGH translocations involved in MM converge on a ● To understand that myeloma should no longer be considered common pathway that is essential in the pathogenesis of the disease as a single entity and cause the inhibition of differentiation and an increase in cell ● To understand that better tools for diagnosis and monitoring survival and proliferation order 5 mg propecia with visa hair loss in men quilters. Gene expression profiling (GEP) analysis treatment efficacy are being implemented has demonstrated that expression of the cyclin proteins (CCND1, ● To understand that the treatment goal is to find the best CCND2, and CCND3) is increased in almost all MM patients, possible balance among efficacy, toxicity, and cost supporting the hypothesis that there is a potential unifying event in its pathogenesis. The ...
What is the difference between Translocation and Crossing Over? Translocation occurs between non-homologous chromosomes while crossing over occurs between...
Translocation Down syndrome Translocation reciprocal or eucentric translocation (Figure A, right) is a two-break aberration that results in an exact in- terchange of chromosomal segments between two nonhomologous chromosomes and ...
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Data from 305 enrolled patients were available. The most common type of molecular testing was fluorescence in situ hybridization (FISH) performed on the primary tumor (236 of 305 patients; 77.4%), with positive testing for an EWSR1 or FUS translocation in 211 (89.4%). Reverse transcription-polymerase chain reaction (RT-PCR) on the primary tumor was performed in 61 of 305 (20%), with positive results in 48 of 61 patients (78.7%). Next-generation sequencing was reported in 7 patients on primary tumor and in 3 patients on metastatic sites. Evaluating all types of testing on either primary or metastatic tumor, 16 of 305 patients (5.2%) had no reported translocation testing. Evaluating all results from all testing, 44 of 305 patients (14.4%) lacked documentation of an abnormality consistent with a molecular diagnosis of Ewing sarcoma. ...
Maize B-A translocations result from reciprocal interchanges between a supernumerary B chromosome and an arm of an essential A chromosome. Because of the freque
Nesprin-2 mediates the translocation of c-Fos after TGFβ induction. (A) Nuclear translocation of transcription factor c-Fos was studied in control and KD HaCaT
Cre recombinase is then used to generate a translocation between the two DNA molecules, exchanging the genetic material from ... Griffiths AJ, Miller JH, Suzuki DT, Lewontin RC, Gelbart WM (2000). "Translocations". An Introduction to Genetic Analysis (7th ... Translocation events occur when the loxP sites flox genes on two different DNA molecules in a unidirectional orientation. ... Inversion events are useful for maintaining the amount of genetic material. The inverted genes are not often associated with ...
Translocations: A portion of one chromosome is transferred to another chromosome. There are two main types of translocations: * ... This can happen with or without loss of genetic material.. *Isochromosome: Formed by the mirror image copy of a chromosome ... Reciprocal translocation: Segments from two different chromosomes have been exchanged.. *Robertsonian translocation: An entire ... Inversions: A portion of the chromosome has broken off, turned upside down, and reattached, therefore the genetic material is ...
Often a translocation is found on some chromosomes. Fibroids are partly genetic. If a mother had fibroids, risk in the daughter ... Genetic and hereditary causes are being considered and several epidemiologic findings indicate considerable genetic influence ... Medikare, V; Kandukuri, LR; Ananthapur, V; Deenadayal, M; Nallari, P (July 2011). "The genetic bases of uterine fibroids; a ... The exact cause of fibroids is not clearly understood, but the current working hypothesis is that genetic predispositions, ...
Follicular lymphoma variant translocation 1 is a secreted protein which is weakly expressed in hematopoietic tissue. FVT1 shows ... Assessment of five thrombophilic genetic polymorphisms among couples with habitual abortion]". Gaceta Médica de México. 142 (2 ... "Entrez Gene: FVT1 follicular lymphoma variant translocation 1". Human KDSR genome location and KDSR gene details page in the ... or follicular variant translocation protein 1 (FVT1) is an enzyme that in humans is encoded by the KDSR gene. 3- ...
These genetic abnormalities effect the Wnt signaling pathway, regulation of the cell cycle, RNA metabolism, protein folding, ... translocations, deletions, and duplications of entire chromosomes; and increases and decreases in the expression of intact ... PCL is caused by the development of an excessively high number of genetic abnormalities in plasma cells or, more particularly, ... In contrast to sPCL, pPCL presents de novo with a broad range of genetic abnormalities. For example, advanced methods for ...
A specific chromosome translocation (a type of genetic change) is found in patients with APL. Genes on chromosome 15 change ... A chromosome translocation occurs in patients with CML. Part of chromosome 9 breaks off and attaches itself to chromosome 22, ... Besides genetic risk factors, exposure to ionizing radiation is a known risk factor for childhood leukemia. Other factors that ... This genetic change prevents the promyelocytes from maturing properly. Chronic myelogenous leukemia (CML) is a chronic leukemia ...
These genetic data suggest that CUX1 may be a haploinsufficient tumor suppressor gene. In addition to LOH events, large scale ... "Chromatin structural elements and chromosomal translocations in leukemia". DNA Repair 2006, 5:1282-97. Smith SM, Le Beau MM, ... "Genetic pathways in the pathogenesis of therapy-related myelodysplasia and acute myeloid leukemia". Hematology / the Education ... Multiple reviews have detailed the tissue-specific functions and genetic interactions in Drosophila and the early ...
... due to a translocation can be inherited. An unaffected person can carry a rearrangement of genetic material ... in which some or all of the cells of the body contain extra genetic material from chromosome 13. The extra genetic material ... With a translocation, the person has a partial trisomy for chromosome 13 and often the physical signs of the syndrome differ ... Unless one of the parents is a carrier of a translocation, the chances of a couple having another trisomy 13 affected child is ...
Cancer occurs through genetic mutations such as methylation, translocation, and somatic mutations. Research has shown that both ... Genomics deals with the genetic code of entire organisms, while transcriptomics deals with the study of RNA sequencing and ...
2011). "Wildlife translocation: the conservation implications of pathogen exposure and genetic heterzygosity". BMC Ecology. 11 ... A pair of horns might weigh up to 14 kg (30 lb); the sheep typically weigh up to 143 kg (315 lb). Recent genetic testing ... 2016). "Phylogeographic and population genetic structure of bighorn sheep (Ovis canadensis) in North American deserts". Journal ...
Due to the nature of the translocation, no genetic material was lost. Philadelphia chromosomes are common in myeloid leukemia ... HAP1 cells are a cell line of human origin used for biomedical and genetic research. They are near haploid, having one copy of ... Due to their haploidy, HAP1 cells are very useful in biomedical research and genetic experiments. When working in diploid cells ... It also possesses a reciprocal chromosomal translocation of Chromosomes 9 and 22 which created a Philadelphia chromosome. ...
Most cases do not appear to be genetic. However, genetic links have been found in a few families. Some maternal trauma may ... Some cases are associated with reciprocal translocation between chromosomes or maternal illness. In the majority of cases of ... Genetic links to 13q12.2 and 1p22 have been suggested. Diagnosis is typically made by the physical characteristics and symptoms ... 2 chromosome translocation". Clin. Genet. 51 (2): 122-123. doi:10.1111/j.1399-0004.1997.tb02433.x. PMID 9112001. S2CID 13234569 ...
2011 ). Genetic mapping using recombinant inbred lines derived from maize inbred lines B73 and Mo17 showed that a 3.9 kb cis- ... AB chromosome translocation analyses place on short arm of chromosome 4 (4S; Simcox and Weber 1985 ). There is close linkage to ... 2015 ). This genetic variation is also associated with higher corn leaf aphid (Rhopalosiphum maidis) reproduction on B73 ... 2010). Genetic variation in benzoxazinoid content influences maize resistance to several insect pests (Meihls et al 2013; ...
The condition results from an abnormal exchange of genetic material between chromosomes (translocation). This exchange occurs ... XX males that are SRY-positive have two X chromosomes, with one of them containing genetic material (the SRY gene) from the Y ... The tip of the Y chromosome contains the SRY gene and, during recombination, a translocation occurs in which the SRY gene ... Chen, Harold (2012). "XX Male". Atlas of Genetic Diagnosis and Counseling. pp. 2191-2196. doi:10.1007/978-1-4614-1037-9_250. ...
Core binding factor acute myeloid leukaemia is a cancer related to genetic changes in the CBF gene. It is most commonly caused ... by an inversion of particular region of chromosome 16; however it can also be caused by translocation between copies of ...
"Range-Wide Genetic Connectivity of the Hawaiian Monk Seal and Implications for Translocation". Conservation Biology. 1. 25 (1 ... The Hawaiian monk seal has the lowest level of genetic variability among the 18 pinniped species. This low genetic variability ... This limited genetic variability reduces the species ability to adapt to environmental pressures and limits natural selection, ... Schultz J, J. K.; Baker J; Toonen R; Bowen B (2009). "Extremely Low Genetic Diversity in the Endangered Hawaiian Monk Seal ( ...
Chronic myelogenous leukemia is associated with a genetic abnormality called the Philadelphia translocation; 95% of people with ... In addition to these genetic issues, people with chromosomal abnormalities or certain other genetic conditions have a greater ... A combination of genetic factors and environmental (non-inherited) factors are believed to play a role. Risk factors include ... The disease is restricted to individuals with Down syndrome or genetic changes similar to those in Down syndrome, develops in a ...
The underlying mechanism often involves a genetic change known as a reciprocal translocation. Diagnosis is based on biopsy of ... Most cases of Ewing sarcoma (about 85%) are the result of a defining genetic event; a reciprocal translocation between ... Other translocations are at t(21;22) and t(7;22). Ewing sarcoma cells are positive for CD99 and MIC2, and negative for CD45. ... The most common translocation, present in about 90% of Ewing sarcoma cases, is t(11;22)(q24;q12), which generates an aberrant ...
Some genetic diseases are suspected to be caused by structural variations, but the relation is not very certain. It is not ... Translocations, inversions and tandem duplications can likewise be discovered using read-pairs. De novo sequence assembly may ... In recent studies, copy-number variations are tested on people who do not have genetic diseases, using methods that are used ... Different frequency of a same variation can be used as a genetic mark to infer relationship between populations in different ...
"Widespread Translocation from Autosomes to Sex Chromosomes Preserves Genetic Variability in an Endangered Lark". Journal of ...
... is a syndrome caused by a translocation on the 21st chromosome. The genetic karyotype for people with ...
These include: Chromosomal translocations: interchange of genetic parts from nonhomologous chromosomes. Chromosomal inversions ... Nonlethal mutations accumulate within the gene pool and increase the amount of genetic variation. The abundance of some genetic ... A change in the genetic structure that is not inherited from a parent, and also not passed to offspring, is called a somatic ... Sequences of DNA that can move about the genome, such as transposons, make up a major fraction of the genetic material of ...
A major source of genetic abnormalities are balanced translocations (Figure 1). A translocation involves the exchange of ... 3 of embryos produced will have unbalanced translocations within their DNA if fertilised by sperm with a balanced translocation ... Translocation mutations can occur at any point during fertilization or even the first meiotic division that the oocyte ... In most cases, this leads to balanced translocations, in which no DNA is lost therefore is usually asymptomatic. However, as ...
Genetic disorders, such as Down syndrome, and other chromosomal abnormalities (aneuoploidy and translocations)[62] ... In childhood ALL, for example, one fusion gene translocation is often found along with six to eight other ALL-related genetic ... Below is a table with the frequencies of some cytogenetic translocations and molecular genetic abnormalities in ALL. ... and specific genetic abnormalities, such as translocations. Hyperdiploid cells are defined as cells with more than 50 ...
2001). "Translocation T(4;14)(p16.3;q32) is a recurrent genetic lesion in primary amyloidosis". Am. J. Pathol. 158 (5): 1599- ... 1997). "Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating ... Chesi M, Nardini E, Lim RS, Smith KD, Kuehl WM, Bergsagel PL (Nov 1998). "The t(4;14) translocation in myeloma dysregulates ... 2003). "A subset of multiple myeloma harboring the t(4;14)(p16;q32) translocation lacks FGFR3 expression but maintains an IGH/ ...
"Translocation, genetic structure and homing ability confirm geographic barriers disrupt saltwater crocodile movement and ...
Therefore, virtual karyotypes cannot detect balanced translocations and inversions. They also can only detect genetic ... Not all translocations of chromosomes carry a poorer prognosis. Some translocations are relatively favorable. For example, ... Four main genetic aberrations are recognized in CLL cells that have a major impact on disease behavior. Deletions of part of ... A translocation between chromosomes 4 and 11 occurs in about 4% of cases and is most common in infants under 12 months. ...
Aneuploidy Chromosome segregation Genetic disorder List of genetic disorders Gene therapy Nondisjunction Obstetrical ... There are two main types of translocations: Reciprocal translocation: Segments from two different chromosomes have been ... Robertsonian translocation: An entire chromosome has attached to another at the centromere - in humans these only occur with ... This can happen with or without loss of genetic material. Isochromosome: Formed by the mirror image copy of a chromosome ...
2011). "Wildlife translocation: the conservation implications of pathogen exposure and genetic heterzygosity". BMC Ecology. 11 ... These horns can weigh up to 14 kg (30 lb), while the sheep themselves weigh up to 140 kg (300 lb).[7] Recent genetic testing ... "Phylogeographic and population genetic structure of bighorn sheep (Ovis canadensis) in North American deserts". Journal of ...
... the first develop a test to detect chromosome translocations in human embryos to increase the success rate and avoid genetic ...
... a genetic disorder resulting in complete or partial insensitivity to androgens and a lack of external male genitalia. ... nuclear translocation of androgen receptor complex with beta-catenin and T-cell factor 4 may bypass canonical Wnt signaling to ...
For example, if the goal of an experiment is to detect the breakpoint of a translocation, then the overlap of the probes - the ... FISH is often used for finding specific features in DNA for use in genetic counseling, medicine, and species identification.[2] ... The same physics that make a variety of colors possible for M-FISH can be used for the detection of translocations. That is, ... Probes that hybridize along an entire chromosome are used to count the number of a certain chromosome, show translocations, or ...
These rare genetic variants are autosomal dominant.[26] Cancer[edit]. In addition to its role in Alzheimer's disease, ... positive regulation of protein import into nucleus, translocation. • Notch receptor processing, ligand-dependent. • positive ... "Genetic linkage evidence for a familial Alzheimer's seasesease locus on chromosome 14". Science. 258 (5082): 668-71. Bibcode: ...
Gene transfer and genetic exchangeEdit. Halobacterium volcanii, an extreme halophilic archaeon, forms cytoplasmic bridges ... Subramaniam S; Henderson R (August 2000). "Molecular mechanism of vectorial proton translocation by bacteriorhodopsin". Nature ... Current knowledge on genetic diversity is fragmentary and the total number of archaeal species cannot be estimated with any ... Aside from the similarities in cell structure and function that are discussed below, many genetic trees group the two. ...
The following are some of the gene count estimates of human chromosome 16. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.[5] ...
... a rhino translocation scheme was initiated. The first pair of rhinos was reintroduced from Nepal's Terai to Pakistan's Lal ... with the goal of maintaining genetic diversity in the global captive Indian rhinoceros population.[35] ...
... s were discovered in 1884 by Albrecht Kossel.[17] The word "histone" dates from the late 19th century and is derived from the German word "Histon", a word itself of uncertain origin - perhaps from the Greek histanai or histos. In the early 1960s, before the types of histones were known and before histones were known to be highly conserved across taxonomically diverse organisms, James F. Bonner and his collaborators began a study of these proteins that were known to be tightly associated with the DNA in the nucleus of higher organisms.[18] Bonner and his postdoctoral fellow Ru Chih C. Huang showed that isolated chromatin would not support RNA transcription in the test tube, but if the histones were extracted from the chromatin, RNA could be transcribed from the remaining DNA.[19] Their paper became a citation classic.[20] Paul T'so and James Bonner had called together a World Congress on Histone Chemistry and Biology in 1964, in which it became clear that there was no consensus on the ...
2001). "Activation and mitochondrial translocation of protein kinase Cdelta are necessary for insulin stimulation of pyruvate ... followed by molecular genetic analysis of the PDHA1 gene.[10] ...
... surgical techniques are used to remove an invasive malignancy that extends to the clitoris. Standard surgical procedures are followed in these cases. This includes evaluation and biopsy. Other factors that will affect the technique selected are age, other existing medical conditions, and obesity. Other considerations are the probability of extended hospital care and the development of infection at the surgical site.[3] The surgery proceeds with the use of general anesthesia, and prior to the vulvectomy/clitoridectomy an inguinal lymphyadenectomy is first done. The extent of the surgical site extends one to two centimeters beyond the boundaries of malignancy. Superficial lymph nodes may also need to be removed. If the malignancy is present in muscular tissue in the region, it is also removed. In some cases, the surgeon is able to preserve the clitoris though the malignancy may be extensive. The cancerous tissue is removed and the incision is closed.[3] Post operative care may ...
Subramaniam S, Henderson R (2000). "Molecular mechanism of vectorial proton translocation by bacteriorhodopsin". Nature 406 ( ... "Intervening sequences of regularly spaced prokaryotic repeats derive from foreign genetic elements". J. Mol. Evol. 60 (2): 174- ... "Genetic exchange across a species boundary in the archaeal genus ferroplasma". Genetics 177 (1): 407-16. PMC 2013692. PMID ...
"Genetic mosaics in animals and man". pp27-129, in Stern, C. Genetic Mosaics and Other Essays. Harvard University Press, ... Translocations. Leukemia/lymphoma. Lymphoid. *Burkitt's lymphoma t(8 MYC;14 IGH). *Follicular lymphoma t(14 IGH;18 BCL2) ... What does such genetic chimerism mean for health and disease?". The Scientist. Archived from the original on 25 April 2017. ... Genetic mosaics may often be confused with chimerism, in which two or more genotypes arise in one individual similarly to ...
2004). "Identification of modifiable factors that affect the genetic diversity of the transmitted HIV-1 population". AIDS 18 (4 ... "Microbial translocation is a cause of systemic immune activation in chronic HIV infection". Nat. Med. 12 (12): 1365-71. doi: ...
Genetic cause[edit]. Spinal muscular atrophy is linked to genetic mutations in the SMN1 (Survival of Motor Neuron 1) gene. The ... In an inducible rat model of PD, valproic acid had a neuroprotective effect by preventing translocation of alpha-synuclein into ... Several genetic factors have been identified as contributing to AD, including mutations to the amyloid precursor protein (APP) ... Effective treatment of these diseases is often prevented by lack of understanding of the underlying molecular and genetic ...
Leukemia involves a genetic abnormality that can begin in a single cell and then multiply rapidly, leading to a disruption in ... Uses: Chromosomal translocation MRD detection is widely used as a standard clinical practice. Patient specific assays are ... Genetic tests can confirm the leukemic cells at relapse are descendants of those present when the disease first appeared. ... For example, the t(9;22) BCR-ABL translocation may occur over a large length of the chromosome which makes DNA-based testing ...
This genetic disorder article is a stub. You can help Wikipedia by expanding it.. *v ... Translocations. Leukemia/lymphoma. Lymphoid. *Burkitt's lymphoma t(8 MYC;14 IGH). *Follicular lymphoma t(14 IGH;18 BCL2) ...
Imbalanced translocation- in this case, a parent with balanced translocation or other types of chromosomal rearrangement can ... "Jacobsen syndrome , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih.gov.. ... "Jacobsen syndrome , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih.gov.. ... 17]Genetic testing can be carried out for diagnosis. Here chromosomes are stained to give a barcode like appearance and studied ...
Genetic driftEdit. Even if a well adapted Y chromosome manages to maintain genetic activity by avoiding mutation accumulation, ... females either developed on the Y chromosome or were acquired through the process of translocation.[13] ... National Library of Medicine's Genetic Home Reference *^ "Definition of holandric , Dictionary.com". www.dictionary.com. ... In human genetic genealogy (the application of genetics to traditional genealogy), use of the information contained in the Y ...
Wynbrandt, James (2008). Genetic Disorders and Birth Defects. New York: Facts on File, Inc. p. 340. ISBN 9780816063963. " ... Occasionally, individuals with SCS have a chromosome translocation, inversion, or ring chromosome 7 involving 7p21 resulting in ... Allanson, Judith, Cassidy, Suzanne (2010). Management of Genetic Syndromes. New Jersey: John Wiley & Sons, Inc. pp. 230-235. ... or other tissues in order to find genetic disorders. Direct gene testing can determine whether an individual has SCS by testing ...
... gains or losses across the genome but does not detect balanced translocations or distinguish the location of duplicated genetic ... Genetic Counselor. MS. A Genetic counselor specializes in communication of genetic information to patients and families. ... Genetic counseling[edit]. Genetic counseling is the process of providing information about genetic conditions, diagnostic ... The genetic architecture of common diseases is an important factor in determining the extent to which patterns of genetic ...
Furthermore, PDGFB translocation to the COL1A1 gene locus has been identified to be responsible for dermatofibrosarcoma ... Mutations of FLT3 comprise one of the most frequently identified types of genetic alterations in Angiomyolipoma. Approximately ...
In genetic engineering, the tumor-promoting and opine-synthesis genes are removed from the T-DNA and replaced with a gene of ... Then this process succeeds the macromolecular translocation from Agrobacterium to cytoplasm of host cell, transmission of T-DNA ... Koukolíková-Nicola, Z; Raineri, D; Stephens, K; Ramos, C; Tinland, B; Nester, E W; Hohn, B (February 1993). "Genetic analysis ... "The roles of bacterial and host plant factors in Agrobacterium-mediated genetic transformation". The International Journal of ...
These genetic studies allow that ALOX5 along with the chemotactic factors and SPMs that they contribute to making may play ... These events, along with rises in cytosolic Ca2+ levels, which promote the translocation of ALOX5 form the cytoplasm and ... The tissue, animal model, and animal and human genetic studies cited above implicate ALOX5 in a wide range of diseases: a) ... These studies suggest genetic variants may play a role, albeit a relatively minor one, in the overall susceptibility to ...
Genetic counseling and genetic testing is offered to families that may be carriers of chromosomal translocations. ... They are a type of chromosomal translocation. A Robertsonian translocation is a type of translocation involving two homologous ... A Robertsonian translocation in balanced form results in no excess or deficit of genetic material and causes no health ... Most people with Robertsonian translocations have only 45 chromosomes in each of their cells, yet all essential genetic ...
Penile translocation surgically alters the penis to point far enough away from its normal direction that it cannot manage ... which gives the proteins that regulate how genes act access to the genetic material[13] ...
Up to 7% of NSCLC patients have EML4-ALK translocations or mutations in the ROS1 gene; these patients may benefit from ALK ... At present there are two genetic markers which are routinely profiled in NSCLC tumors to guide further treatment decision ... There are also a number of additional genetic markers which are known to be mutated within NSCLC and may impact treatment in ... as well as newer targeted agents which are more tailored to specific genetic aberrations found within a person's tumor. When ...
A 1999 genetic study suggests that the variations represent differentiated populations with limited gene flow between them, and ... Sanctuaries were established, and translocation efforts moved to new regions koalas whose habitat had become fragmented or ... Houlden, B. A.; England, P. R.; Taylor A. C.; Greville, W. D.; Sherwin, W. B. (1996). "Low genetic variability of the koala ... Lee, K. E.; Seddon, J. M.; Corley, S.; Williams, E.; Johnston, S.; Villers, D.; Preece, H.; Carrick, F. (2010). "Genetic ...
Oppenheim, RW (2001). "Programmed cell death of developing mammalian neurons after genetic deletion of caspases". Journal of ... the product of a putative oncogene activated by chromosome translocations often found in follicular lymphoma. Unlike other ... such as endonuclease activation can be spuriously induced without engaging a genetic cascade, however, presumably true ...
Associations of Translocation, Genetic with chemical compounds. *CML cells carrying the t(9;22) chromosomal translocation are ... Gene context of Translocation, Genetic. *A t(9;12)(p24;p13) chromosomal translocation in a T cell childhood acute lymphoblastic ... Disease relevance of Translocation, Genetic. *Acute lymphoblastic leukemias carrying a chromosomal translocation involving the ... Anatomical context of Translocation, Genetic. *DNA containing breakpoints of two different t(7;9) chromosomal translocations ...
Genetic" by people in Harvard Catalyst Profiles by year, and whether "Translocation, Genetic" was a major or minor topic of ... "Translocation, Genetic" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical ... Below are the most recent publications written about "Translocation, Genetic" by people in Profiles. ... Below are MeSH descriptors whose meaning is more general than "Translocation, Genetic". ...
Sigg DP (2006) Reduced genetic diversity and significant genetic differentiation after translocation: comparison of the remnant ... Translocation retains genetic diversity of a threatened endemic reptile in Mauritius. *Sozos Michaelides. 1, ... The translocation on Ile aux Fouquets did not provide evidence of negative genetic effects. The newly established population ... Michaelides, S., Cole, N. & Funk, S.M. Translocation retains genetic diversity of a threatened endemic reptile in Mauritius. ...
Translocation is an important management tool that has been used for more than 50 years to increase bighorn sheep population ... More information: Daphne A. Gille et al, Genetic outcomes of translocation of bighorn sheep in Arizona, The Journal of Wildlife ... Yet, translocation also can alter the underlying genetic diversity and spatial structure of managed wildlife species in both ... Translocation of bighorn sheep in Arizona began in 1958, initially to augment numbers and maintain genetic integrity among ...
We report an unusual case of familial Turner syndrome with mosaicism for a novel X;Y translocation involving Xp ... We report an unusual case of familial Turner syndrome with mosaicism for a novel X;Y translocation involving Xp and Yp. The ... Prenatal diagnosis revealed a female karyotype, with transmission of the maternal translocation with an unexpected different ...
Although human genetic variants influencing HIV load have been identified, it is unknown how much the host genetic background ... The Interplay Between Host Genetic Variation, Viral Replication, and Microbial Translocation in Untreated HIV-Infected ... The Interplay Between Host Genetic Variation, Viral Replication, and Microbial Translocation in Untreated HIV-Infected ... The Interplay Between Host Genetic Variation, Viral Replication, and Microbial Translocation in Untreated HIV-Infected ...
Translocation, Genetic - radiation effects Ukraine Abstract. We report the results of a study of chromosome translocations in ... Translocation, Genetic Abstract. Molecular genetic analysis of lung tumors is often essential for the proper choice of therapy ... Translocation, Genetic - genetics Abstract. Frequencies of symmetrical translocations were determined by fluorescence in situ ... Translocation, Genetic Tumor Cells, Cultured Tumor Markers, Biological - metabolism Tumor Virus Infections - immunology Viral ...
Notwithstanding the small spatial scale, red deer populations formed distinct genetic clusters, and some had higher genetic ... We found that both spatial genetic structure and within-population genetic variation differed markedly from patterns assumed ... Notwithstanding the small spatial scale, red deer populations formed distinct genetic clusters, and some had higher genetic ... We documented that both spatial genetic structure and within-population genetic variation differed markedly from patterns ...
The genetic hallmark of FL is the chromosomal translocation t(14;18)(q32;q21) that leads to deregulated expression of the ... Follicular lymphomas with and without translocation t(14;18) differ in gene expression profiles and genetic alterations. Ellen ... Follicular lymphomas with and without translocation t(14;18) differ in gene expression profiles and genetic alterations. Blood, ... Follicular lymphomas with and without translocation t(14;18) differ in gene expression profiles and genetic alterations ...
With Focus on Supportive Breeding of Brown Trout Salmo trutta and Translocation of European Eel Anguilla anguilla. Dannewitz, ... and how does it affect the genetic consequences of a supportive breeding programme? Is there a spatial genetic structure in the ... the present genetic analyses of European eels sampled across the whole distribution range suggest no spatial genetic structure ... 2. Lack of molecular genetic divergence between sea-ranched and wild sea trout (Salmo trutta). Open this publication in new ...
Although human genetic variants influencing HIV load have been identified, it is unknown how much the host genetic background ... we searched for human genetic determinants of plasma levels of intestinal fatty acid-binding protein (I-FABP/FABP2), a marker ... and microbial translocation due to gut mucosal damage. ... HIV pathogenesis such as gut damage and microbial translocation ... of gut damage, and of soluble CD14 (sCD14), a marker of lipopolysaccharide bioactivity and microbial translocation. We also ...
Trans location t(2;7)(p11.2;q21.2): a rare genetic aberration associated with B-cell lymphoproliferative disorders of marginal- ...
Every wildlife translocation is an experiment, and whenever possible, translocations should be designed and evaluated to test ... While heterosis or genetic rescue effects may occur in F1 and later generations as the two source populations interbreed, we ... Conclusions Although genetic theory predicts otherwise, increased heterozygosity was not associated with increased fitness ( ... We explored this topic by examining whether genetic background and previous pathogen exposure influenced survival of ...
... Vermaak, Charmaine (1999) ... Genetic susceptibility to tuberculosis in Africans: A genome-wide scan  Bellamy R.; Beyers N.; McAdam K.P.W.J.; Ruwende C.; ... The genetic structure of Pyrenophora teres, the causal agent of net blotch of barley, was examined in two fields 30 km apart in ... Population genetic structure and demographical history of South African abalone, Haliotis midae, in a conservation context  ...
A Genetic Root to Seasonal Affective Disorder. By Bob Grant , February 23, 2016 ... In mice and flies, the Arc protein forms capsids and carries genetic information. ...
Further, the shape of the relationship between age and translocation frequency (TF) has not been definitively determined. We ... and cigarette smoking on background translocation yields have not been examined systematically. ... Chromosome translocations in peripheral blood lymphocytes of normal, healthy humans increase with age, but the effects of ... Genetic-factors; Racial-factors; Smoking ... the shape of the relationship between age and translocation ...
... their personal cumulative exposure to diagnostic X-rays was associated with increased frequencies of chromosome translocations ... translocation frequencies significantly increased with increasing RBM dose score with an estimate of 0.004 translocations per ... Genes; Genetic-factors; Cancer-rates; Cell-biology; Cell-cultures; Cell-growth; Cell-morphology; Chromosome-disorders; ... Routine diagnostic x-ray examinations and increased frequency of chromosome translocations among US radiologic technologists.. ...
I am a male and yesterday I learned that I have a balanced translocation of chromosomes 14 & 17. My wife and I have suffered 5 ... In the absence of a family history for genetic disease, what is the risk of genetic disorder/birth defect in first cousins of ... Genetic Disorders Forum Questions in the Genetics Forum are being answered by medical professionals and experts. This forum is ... can the genetic factors MTHFRC677T or Factor V Leiden keep you from GETTING pregnant? not just having miscarriages, and can it ...
Robertsonian translocation. This is a balanced translocation in which 1 chromosome joins the end of another. ... Getting genetic testing. Each parents DNA may need to be checked. This is done to learn about some genetic inheritance ... Carrier screening. This test uses a sample of blood from each parent to check if they carry genetic changes for certain genetic ... Families at risk for genetic diseases may want to talk with a certified genetic counselor. Making a chart of the family members ...
The possibility of preimplantation genetic diagnosis should also be discussed with the couples. ... Pregnancy outcome in carriers of Robertsonian translocations.. Keymolen K1, Van Berkel K, Vorsselmans A, Staessen C, Liebaers I ... Robertsonian translocation carriers are at increased risk for infertility, spontaneous abortions, or chromosomally unbalanced ... Male carriers in whom the translocation was ascertained because of infertility or recurrent miscarriages appear to be at higher ...
... and facilitating the increased utilization of Musa genetic resources globally. ... MusaNet is a global collaborative framework for Musa genetic resources and a partnership of all key stakeholders, aiming at ... Large chromosome structural variation: inversion, translocation, duplication, deletion *Structural variation link to copy ... Phenotypic, genetic and genomic characterization of segregating populations for the major traits of interest. Enhance genetic ...
Biodiversity across all levels of biological classifications is fundamentally based on genetic diversity. However, the ... "Genetic rescue" via hybrid translocations may provide needed adaptive flexibility for rapid adaptation to environmental change ... Keywords: climate change; biodiversity; translocation conservation; hybrid conservation; genetic introgression; hybrid ... speciation; hybrid extinction climate change; biodiversity; translocation conservation; hybrid conservation; genetic ...
Start studying Chromosome Structure and Translocations. Learn vocabulary, terms, and more with flashcards, games, and other ... can be in coding regions or not; they are useful to us as markers for genetic variation but we dont know functions for them in ... PCR: Template is DNA and we are looking at Genome to find answer to questions about a Translocation, etc.. -RT PCR: Template is ... Translocations can join the regulatory or functional features of one gene with another gene, leading to... ...
... leading to nuclear translocation and subsequent DNA double-strand breaks (DSBs). DSBs activate the DNA damage-sensing enzyme, ... DNase II nuclear translocation requires functional genetic LMP pathways. Our observations suggest a cell autonomous function ... Overall, these findings demonstrate that DNase II nuclear translocation is dependent upon functional genetic LMP pathways. ... AIF can bind to DNase II and mediates its nuclear translocation. Given the involvement of AIF in the nuclear translocation of ...
... the second part including a portion of a translocation domain of a protein, provided that (i) the hybrid molecule does not ... the portion of the translocation domain, when covalently bonded to the enzymatically-active effector region of a toxin selected ... The genetic material coding for the binding domain of the polypeptide ligand can be either DNA cloned from a natural source, or ... A "translocation domain" is a segment of a protein which, when the protein is bound to the exterior surface of a cellular ...
Translocation, Genetic / genetics* * Wilms Tumor / genetics* Substances * CCCTC-Binding Factor * CTCF protein, human ... We mapped Chr16 LOH in WTs and correlated this with unbalanced chromosomal translocations and histopathology. We also analyzed ... Chromosome arm 16q in Wilms tumors: unbalanced chromosomal translocations, loss of heterozygosity, and assessment of the CTCF ... chromosomal translocations were a major pathway for Chr16 loss of heterozygosity, and this LOH was correlated significantly ...
The genetic basis of pediatric cardiovascular disease. Semin Perinatol. 1996 Dec;20(6):564-76. Review. ... Study of Protein Translocation in Patients With Beta-Oxidation Disorders. The safety and scientific validity of this study is ... The genetic basis of paediatric heart disease. Ann Med. 1995 Jun;27(3):289-300. Review. ... Strauss AW, Jelly DP: The molecular basis of cardiomyopathies due to genetic deficiencies of mitochondrial proteins. pp 323-342 ...
Translocations that involve the mixed lineage leukaemia (MLL) gene identify a unique group of acute leukaemias, and often ... Epigenesis, Genetic / genetics * Epigenesis, Genetic / physiology* * Gene Expression Regulation* / genetics * Gene Expression ... MLL translocations, histone modifications and leukaemia stem-cell development Nat Rev Cancer. 2007 Nov;7(11):823-33. doi: ... Translocations that involve the mixed lineage leukaemia (MLL) gene identify a unique group of acute leukaemias, and often ...
Translocations: the genetic rescue paradox. 14 01 2013 Harvesting and habitat alteration reduce many populations to just a few ... translocations might elicit outbreeding depression, regardless of whether inbreeding depression is counteracted.Translocations ... Error-free genetic repositories: case of amphibians * Many animals wont cope with climate change without access to ample ... Such passive genetic manipulations have become a major tool in conservation biology and they are likely to become more and more ...
Translocations: the genetic rescue paradox. 14 01 2013 Harvesting and habitat alteration reduce many populations to just a few ... translocations might elicit outbreeding depression, regardless of whether inbreeding depression is counteracted.Translocations ... Such passive genetic manipulations have become a major tool in conservation biology and they are likely to become more and more ... In translocations, the opposite of outbreeding depression is hybrid vigour (also known as heterosis), that is, when foreign ...
  • Robertsonian translocation. (uhhospitals.org)
  • Pregnancy outcome in carriers of Robertsonian translocations. (nih.gov)
  • Robertsonian translocation carriers are at increased risk for infertility, spontaneous abortions, or chromosomally unbalanced offspring. (nih.gov)
  • We performed a retrospective analysis of all prenatal diagnoses from Robertsonian translocation carriers during the time period January 1, 1992 through December 31, 2007. (nih.gov)
  • We identified 28 female and 20 male carriers of Robertsonian translocations and results on 79 prenatal samples were obtained. (nih.gov)
  • We conclude that pregnancies of Robertsonian translocation carriers are at increased risk for chromosomal imbalance, and prenatal chromosomal testing should be discussed. (nih.gov)
  • There are two main types of translocations: reciprocal and Robertsonian. (rochester.edu)
  • In a Robertsonian translocation, an entire chromosome attaches to another at the centromere. (rochester.edu)
  • Preimplantation genetic testing of Robertsonian translocation by SNP array-based preimplantation genetic haplotyping. (cdc.gov)
  • The present study attempted to confirm a method that distinguishes a balanced Robertsonian translocation carrier embryo from a truly normal embryo in parallel with comprehensive chromosome screening (CCS). (cdc.gov)
  • Comprehensive chromosome screening was performed in 107 embryos from 11 couples carrying Robertsonian translocations. (cdc.gov)
  • SNP array-based PGT can simultaneously complete the CCS and identify Robertsonian translocation carriers, thus making it possible to prevent Robertsonian translocations from being passed to subsequent generations. (cdc.gov)
  • We enrolled 75 couples with a balanced translocation who underwent 83 PGT cycles (58 cycles for carriers with reciprocal translocations and 25 cycles for carriers with Robertsonian translocations) and 388 blastocysts were diagnosed. (cdc.gov)
  • The proportion of normal/balanced embryos was significantly higher (44.1 vs. 27.8%) in Robertsonian translocation carriers than in reciprocal translocation carriers. (cdc.gov)
  • What is a Robertsonian translocation? (healthline.com)
  • A Robertsonian translocation is the most common kind of human chromosome translocation. (healthline.com)
  • A Robertsonian translocation effects acrocentric chromosomes. (healthline.com)
  • In a Robertsonian translocation, acrocentric chromosomes fuse together. (healthline.com)
  • Robertsonian translocations involve the long arms of DNA chains fusing together. (healthline.com)
  • A Robertsonian translocation can also result in an extra copy of one chromosome being included in your DNA. (healthline.com)
  • In most cases , there are no symptoms or visible signs of a Robertsonian translocation. (healthline.com)
  • Since chromosomes come in pairs, you can have a Robertsonian translocation that disrupts your DNA strand, but leaves you with all of the genetic information that you need for your cells to multiply correctly. (healthline.com)
  • But even if a Robertsonian translocation doesn't present a problem within your DNA, you may become a "carrier" of the translocation. (healthline.com)
  • If you or your partner carry a Robertsonian translocation, you may be at a higher risk for infertility or miscarriage. (healthline.com)
  • If you've had more than one miscarriage or know you've been pregnant with a fetus that carries a chromosomal imbalance, your doctor may advise genetic testing for a Robertsonian translocation. (healthline.com)
  • Robertsonian translocations can result in pregnancies that carry monosomy 14 and monosomy 21. (healthline.com)
  • A Robertsonian translocation can result in trisomy 14 or trisomy 21. (healthline.com)
  • If your Robertsonian translocation fuses another chromosome with chromosome 21, you may be genetically more predisposed to have a baby with Down syndrome. (healthline.com)
  • This study was performed to evaluate the efficiency of preimplantation genetic diagnosis ( PGD ) using fluorescence in-situ hybridization (FISH) in Robertsonian or balanced reciprocal translocation carriers in human IVF-ET programm. (bvsalud.org)
  • Robertsonian translocations may involve two chromosomes 13 or chromosome 13 and another acrocentric (14, 15, 21, 22) [ 1 ]. (hindawi.com)
  • Compare reciprocal translocation, robertsonian translocation . (thefreedictionary.com)
  • This includes balanced and unbalanced translocation, with two main types: reciprocal-, and Robertsonian translocation. (wikipedia.org)
  • Robertsonian translocation occurs when two non-homologous chromosomes get attached, meaning that given two healthy pairs of chromosomes, one of each pair "sticks" together. (wikipedia.org)
  • Robertsonian translocation is a type of translocation caused by breaks at or near the centromeres of two acrocentric chromosomes. (wikipedia.org)
  • Robertsonian translocations have been seen involving all combinations of acrocentric chromosomes. (wikipedia.org)
  • Carriers of Robertsonian translocations are not associated with any phenotypic abnormalities, but there is a risk of unbalanced gametes that lead to miscarriages or abnormal offspring. (wikipedia.org)
  • For example, carriers of Robertsonian translocations involving chromosome 21 have a higher risk of having a child with Down syndrome. (wikipedia.org)
  • Robertsonian translocations involving chromosome 14 also carry a slight risk of uniparental disomy 14 due to trisomy rescue. (wikipedia.org)
  • Down syndrome is caused in a minority (5% or less) of cases by a Robertsonian translocation of the chromosome 21 long arm onto the long arm of chromosome 14. (wikipedia.org)
  • will aid in the understanding of introgression of genes from L. ervoides into cultivated L. culinaris , furthering genetic research and breeding applications in lentil. (frontiersin.org)
  • It may be that things are more complicated, and that some other factor, when found in combination with either the increased copy number of the gene fusion or with the translocation and/or deletion of the fused genes, may trigger the risk for more aggressive foms of the disease. (prostatecancerinfolink.net)
  • Genetic tests look at the unique genetic material (genes) of patients' tumor cells. (clinicaltrials.gov)
  • Genetic screens in zebrafish have provided mutations in hundreds of genes with essential functions in the developing embryo. (genetics.org)
  • The translocated segments together cover approximately 5% of the genetic map, and we show that this rearrangement is useful for mapping cloned genes that reside in the affected chromosomal regions. (genetics.org)
  • It has recently become clear that many human cancers activate ALK signaling by creating unique oncogenic fusions of the ALK gene at chromosomal band 2p23 with a variety of partners through chromosomal translocation events ( 2 ), resulting in the generation of oncogenic ALK fusion genes and their encoded proteins. (aacrjournals.org)
  • Chromosomal translocations can cause cancer, often through the formation of fusion genes that code for an unnatural tyrosine kinase that promotes constitutive activation of a signaling pathway controlling cell proliferation and differentiation. (ubc.ca)
  • The identification of these translocation events and/or associated fusion genes in clinical samples is critical to ensure the appropriate treatment for patients where the drug and related course of therapy target an activated fusion kinase. (ubc.ca)
  • [1] Although most phenotypic variation is a product of genetic recombination , all new genes are considered to be produced by mutations. (newworldencyclopedia.org)
  • The DNA segments that carry genetic information are called genes , but other DNA sequences have structural purposes or are involved in regulating the expression of genetic information. (newworldencyclopedia.org)
  • an individual with a balanced translocation has a normal diploid genome and is clinically normal but has a chromosome count of 45 and as a result of asymmetric meiosis may have children lacking the genes on the translocated segment or have them in trisomy. (thefreedictionary.com)
  • In every cell in the human body there is a nucleus, where genetic material is stored in genes. (ndss.org)
  • A gene fusion may be created when the translocation joins two otherwise-separated genes. (wikipedia.org)
  • Translocations can be balanced (in an even exchange of material with no genetic information extra or missing, and ideally full functionality) or unbalanced (where the exchange of chromosome material is unequal resulting in extra or missing genes). (wikipedia.org)
  • Nonreciprocal translocation involves the one-way transfer of genes from one chromosome to another nonhomologous chromosome. (wikipedia.org)
  • Translocation events occur when the loxP sites flox genes on two different DNA molecules in a unidirectional orientation. (wikipedia.org)
  • Cre recombinase is then used to generate a translocation between the two DNA molecules, exchanging the genetic material from one DNA molecule to the other forming a simultaneous translocation of both floxed genes. (wikipedia.org)
  • Patau syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 13 or by a portion of chromosome 13 translocated (attached) to another chromosome plus two copies of chromosome 13. (encyclopedia.com)
  • A translocation occurs when a piece of one chromosome breaks off and attaches to another chromosome. (medlineplus.gov)
  • The third type, translocation Down syndrome, occurs when the extra chromosome in the 21 pair breaks off and attaches itself to another chromosome. (britannica.com)
  • An unaffected parent can carry a balanced translocation between chromosome 13 and another chromosome. (hindawi.com)
  • Austin JJ, Arnold EN, Jones CG (2009) Interrelationships and history of the slit-eared skinks ( Gongylomorphus , Scincidae) of the Mascarene islands, based on mitochondrial DNA and nuclear gene sequences. (springer.com)
  • In northern Arizona, the presence of two indigenous main groups of Nelson bighorn sheep were confirmed in the Black Mountains and Grand Canyon, and indicated that gene flow among the Grand Canyon populations has likely played a role in maintaining genetic diversity. (phys.org)
  • Our results suggest that AML1 gene translocations are infrequent in radiation-induced leukemogenesis but are consistent with the idea that radiation may contribute to the development of MDS through AML1 gene mutation. (arctichealth.org)
  • Whereas the observed high levels of inbreeding warrant defragmentation measures, the presence of adjacent autochthonous and allochthonous genetic stocks imply that facilitation of gene flow would cause genetic homogenization. (frontiersin.org)
  • The dual anthropogenic influences of isolation and translocation have contrasting effects on the key evolutionary process of gene flow, as it is both impeded as well as augmented. (frontiersin.org)
  • A subset of t(14;18)-negative FL appears to harbor genetic rearrangements of the BCL6 gene in 3q27 10 , 12 , 13 or trisomy 3, 14 whereas others show BCL2 expression on the immunohistochemical level despite the lack of the t(14;18). (bloodjournal.org)
  • These results were supported by molecular genetic data suggesting a pronounced gene flow from hatchery to wild trout in the river. (diva-portal.org)
  • Translocations that involve the mixed lineage leukaemia (MLL) gene identify a unique group of acute leukaemias, and often predict a poor prognosis. (nih.gov)
  • Preimplantation genetic diagnosis (PGD) is gradually widely used in prevention of gene diseases and chromosomal abnormalities. (ecerm.org)
  • Preimplantation genetic haplotyping has been applied for unknown mutation sites of single gene disease. (ecerm.org)
  • The effects of structural changes depend on their size and location, whether gene function is interrupted, and whether any genetic material is gained or lost. (medlineplus.gov)
  • A research group at Memorial Sloan-Kettering Cancer Center has published data indicating that translocation and/or deletion of the TMPRSS2-ERG fusion gene - which occurs in about 50 percent of the cases of clinically localized prostate cancer - is not, in fact, a prognostic indicator of risk for a more aggressive type of disease. (prostatecancerinfolink.net)
  • The finding that translocation and/or deletion of the TMPRSSG2-ERG gene fusion alone is not an indicator for aggressive prostate cancer should not be taken to mean that this gene fusion is irrelevant to risk for more aggressive forms of prostate cancer, however. (prostatecancerinfolink.net)
  • A number of genetic aberrations, among which a variety of gene fusions, have been implicated in the development of a transformed phenotype through the generation of dysfunctional molecules that disrupt key regulatory mechanisms controlling survival, proliferation, and differentiation in normal stem and progenitor cells. (mdpi.com)
  • Translocation carcinoma is a renal cell carcinoma (RCC) subtype that harbors a translocation involving a member of the microphthalmia transcription factor gene family. (medscape.com)
  • These translocations most commonly involve the TFE3 gene on locus Xp11.2 and less commonly involve the TFEB gene on locus 6p21. (medscape.com)
  • A variety of mechanisms that lead to aberrant ALK signaling in a variety of human cancers have been characterized, and these include translocations or structural rearrangements, ALK gene amplification, mutations, and overexpression ( Fig. 1 ). (aacrjournals.org)
  • It is often necessary, in the technologies related to nucleic acids and genetic material, to determine whether a gene, a gene portion or a nucleotide sequence is present in a living organism, a cell extract of this organism or a biological sample. (google.com)
  • The second provides for the highly sensitive detection of DSBs in the anaplastic lymphoma kinase (ALK) gene that result in a non-reciprocal (inversion) translocation (inv(2)(p21;p23)) associated with an ALK-positive non-small cell lung cancer (NSCLC). (ubc.ca)
  • PGD offers an alternative for couples with single-cell gene defects who would otherwise depend on prenatal diagnosis to determine the genetic status of their pregnancy. (bcm.edu)
  • Chromosomal translocations between the sex chromosomes can also result in a number of genetic conditions, such as XX male syndrome: caused by a translocation of the SRY gene from the Y to the X chromosome The International System for Human Cytogenetic Nomenclature (ISCN) is used to denote a translocation between chromosomes. (wikipedia.org)
  • When a baby is born with this type of translocation chromosome in addition to one normal 14 and two normal 21 chromosomes, the baby will have Down syndrome. (rochester.edu)
  • Frequencies of symmetrical translocations were determined by fluorescence in situ hybridization (FISH) for retrospective biodosimetry in workers occupationally exposed to external gamma-rays and internal plutonium at the Mayak nuclear-industrial complex (Southern Urals, Russia). (arctichealth.org)
  • 7 However, the translocation t(14;18) is not present in all FL cases, 8 - 10 and even with a highly sensitive fluorescence in situ hybridization (FISH) approach, rearrangements of BCL2 can only be detected in up to 90% of FLs. (bloodjournal.org)
  • For PGD of chromosomal translocation, fluorescence in-situ hybridization (FISH) is traditionally used, but with technical difficulty. (ecerm.org)
  • Here, we demonstrate that PGCs normally activate an intrinsic alternative cell death (ACD) pathway mediated by DNase II release from lysosomes, leading to nuclear translocation and subsequent DNA double-strand breaks (DSBs). (nature.com)
  • Novel compositions of immunosuppressants, such as cyclosporin, and polypeptide inhibitors of cytoplasmic protein nuclear translocation are disclosed. (google.com)
  • The compositions have, in addition to at least one immunosuppressant, at least one polypeptide inhibitor of nuclear translocation that has a signal sequence and at least one, preferably two, nuclear localization sequences. (google.com)
  • We have developed a reagent to detect nuclear MAPK non-antigenically and report our use of this reagent to confirm that MAPK nuclear translocation is regulated by a second mechanism in addition to phosphorylation. (biologists.org)
  • Given the geographic isolation and its genetic distinctiveness, individuals were translocated to the neighbouring island of Ile aux Fouquets in order to re-establish historical range, minimize extinction risk and maintain genetic variation within the species. (springer.com)
  • Results revealed that the population on Ilot Vacoas exhibits significantly lower levels of genetic variation and strong differentiation ( F ST = 0.16) compared to the northern population. (springer.com)
  • Cardoso M, Eldridge M, Oakwood M, Rankmore B, Sherwin W, Firestone K (2009) Effects of founder events on the genetic variation of translocated island populations: implications for conservation management of the northern quoll. (springer.com)
  • The Interplay Between Host Genetic Variation, Viral Replication, and Microbial Translocation in Untreated HIV-Infected Individuals. (nih.gov)
  • We documented that both spatial genetic structure and within-population genetic variation differed markedly from patterns assumed from present-day abundance and distribution. (frontiersin.org)
  • What is the variation in reproductive success in the wild, and how does it affect the genetic consequences of a supportive breeding programme? (diva-portal.org)
  • Human genetic variation is an important determinant of the outcome of infection with Mycobacterium tuberculosis. (sun.ac.za)
  • This work aiming to study the genetic variation for dry matter accumulation and translocation in C. cardunculus taxa. (usda.gov)
  • I therefore experimentally tested whether reciprocal translocations between different inbred populations could be an alternative technique to mitigate the negative effects of inbreeding and restore levels of genetic variation once a species or population has passed through a bottleneck. (canterbury.ac.nz)
  • These results indicate genetic differences among individuals in their degree of plasticity and consequently their ability to respond to environmental variation. (uwindsor.ca)
  • These studies were designed to determine whether PATRR polymorphisms affect DNA secondary structure, thus leading to variation in translocation frequency. (fujita-hu.ac.jp)
  • In the two step evolutionary process, production of genetic variation is the chance element, whereas natural selection is not a chance event, but an antichance event. (newworldencyclopedia.org)
  • Variation data (sourced from UniProt) shows non-genetic variation from the ExPASy and dbSNP websites. (rcsb.org)
  • Abstract Background A key challenge for conservation biologists is to determine the most appropriate demographic and genetic management strategies for wildlife populations threatened by disease. (escholarship.org)
  • ENGLISH ABSTRACT: The five leading abalone producers in South Africa have initiated a genetic enhancement program for Haliotis midae in a collaborative effort to improve economically valuable traits. (sun.ac.za)
  • ENGLISH ABSTRACT: To manipulate recombinant microorganisms for industrial processes, controllable genetic systems are needed that can coordinate expression of recombinant metabolic pathways. (sun.ac.za)
  • This genetic error is called a full trisomy 13. (encyclopedia.com)
  • A child with this type of genetic error is said to have partial trisomy 13. (encyclopedia.com)
  • Multiple miscarriages , difficulty getting pregnant, and pregnancies in which the fetus develops a trisomy or other genetic abnormality could be a sign that you or your partner has this translocation. (healthline.com)
  • A trisomy is a genetic alteration in which there is an extra copy of a chromosome in a DNA strand, throwing the chain off balance. (healthline.com)
  • Partial trisomy 9q resulting from a familial translocation t(9;16)(q32;q24). (nextbio.com)
  • Trisomy 13 (Patau syndrome) is categorized as a full trisomy due to chromosome 13 nondisjunction at meiosis I or II, or mosaic (due to mitotic nondisjunction) and partial trisomy due to translocations. (hindawi.com)
  • Our case was diagnosed as a partial trisomy 13q syndrome with what we believe the first to result from translocation between (8p;13q) in an infant with unique dysmorphic features and clinical presentations. (hindawi.com)
  • Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling. (biomedsearch.com)
  • We report an unusual case of familial Turner syndrome with mosaicism for a novel X;Y translocation involving Xp and Yp. (biomedsearch.com)
  • The prevalence of Ellis-van Creveld syndrome in some Amish populations is an example of genetic drift and, specifically, of the founder effect. (reference.com)
  • This is also called translocation Down syndrome. (rochester.edu)
  • Patau syndrome can result from genetic errors during the formation of germ cells (eggs and sperm) or during cell division shortly after the egg is fertilized by the sperm. (encyclopedia.com)
  • Down syndrome is the world's most common genetic disorder. (healthline.com)
  • Translocation Down syndrome is the only type that may be inherited. (britannica.com)
  • Have a 22q11.2-related disorder and another genetic syndrome. (seattlechildrens.org)
  • [2] Genetic risk factors may include Down syndrome , Li-Fraumeni syndrome , or neurofibromatosis type 1 . (wikipedia.org)
  • Jacobsen syndrome is caused by a loss of genetic material in chromosome 11. (healthline.com)
  • Genetic testing is necessary to confirm a Jacobsen syndrome diagnosis. (healthline.com)
  • This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome. (ndss.org)
  • Mate selectivity, movement of individuals between populations, small populations, mutations and natural selection can all disrupt genetic equilibrium. (reference.com)
  • Mutations also introduce new genetic traits to existing populations. (reference.com)
  • Translocation mutations take place when a portion of a chromosome is relocated. (reference.com)
  • Haplogroup K is a genetic lineage in humans that is traced via mutations in the DNA that originated thousands of years ago in western Asia. (reference.com)
  • The two major two-chromosome mutations: insertion (1) and Translocation (2). (wikipedia.org)
  • We report molecular genetic analysis of 42 affected individuals referred with a diagnosis of aniridia who previously screened as negative for intragenic PAX6 mutations. (plos.org)
  • Patients with genetic abnormalities (such as mutations, amplifications, or translocations) may benefit more from treatment which targets their tumor's particular genetic abnormality. (clinicaltrials.gov)
  • STEP 0 (Screening): Patients undergo biopsy along with molecular characterization of the biopsy material for specific, pre-defined mutations, amplifications, or translocations of interest via tumor sequencing and immunohistochemistry. (clinicaltrials.gov)
  • Interestingly, both of these mutations suppress recombination between genetic markers in LG 12, including markers at a distance from the deletion. (genetics.org)
  • These results suggest that the systematic collection and analysis of gamma-ray induced mutations in other parts of the genome will provide important tools for genetic analysis in zebrafish. (genetics.org)
  • [4] The underlying mechanism involves multiple genetic mutations that results in rapid cell division . (wikipedia.org)
  • A variety of human malignancies have anaplastic lymphoma kinase (ALK) translocations, amplifications, or oncogenic mutations, including anaplastic large cell lymphoma, inflammatory myofibroblastic tumors, non-small cell lung cancer, and neuroblastoma. (aacrjournals.org)
  • Mutations can be caused by copying errors in the genetic material during cell division, by exposure to ultraviolet or ionizing radiation, chemical mutagens, or viruses , or can occur deliberately under cellular control during processes such as hypermutation. (newworldencyclopedia.org)
  • However, most mutations actually are harmful, such as seen in genetic diseases, leading to speculation that the role of mutations may be overstated by evolutionary biologists and that other factors, perhaps less random, may be of greater importance in the origin of new designs and macroevolutionary changes. (newworldencyclopedia.org)
  • Mutations involve a change in the base pair of an organism's genetic material. (newworldencyclopedia.org)
  • Mutations in the signal sequence or in the early mature region of a preprotein can affect the PMF dependence in the in vitro protein translocation system ( 13 , 17 ). (asm.org)
  • Some prlA mutations in secY not only suppress mutational defects of signal sequence but also alleviate the PMF dependence of protein translocation ( 10 , 29 ). (asm.org)
  • For people with a chromosome structural rearrangement also called a translocation, PGT-SR (Preimplantation Genetic Testing for chromosomal structural rearrangements) can be performed to improve the chance of establishing a healthy pregnancy. (carefertility.com)
  • The aim is to achieve a pregnancy that is unaffected by a chromosome imbalance due to the inherited structural rearrangement/translocation. (carefertility.com)
  • As each rearrangement is unique, carriers would have to discuss their particular situation with a genetic specialist. (carefertility.com)
  • It utilizes droplet digital PCR (ddPCR) technology in lieu of FISH to quantify the rearrangement of proto-oncogenes that undergo rearrangement as part of the translocation event. (ubc.ca)
  • In genetics, chromosome translocation is a phenomenon that results in unusual rearrangement of chromosomes. (wikipedia.org)
  • Using samples and data from 717 untreated participants in the Swiss HIV Cohort Study and a genome-wide association study design, we searched for human genetic determinants of plasma levels of intestinal fatty acid-binding protein (I-FABP/FABP2), a marker of gut damage, and of soluble CD14 (sCD14), a marker of lipopolysaccharide bioactivity and microbial translocation. (nih.gov)
  • Your Genome from the Wellcome Genome Campus discusses chromosome disorders , including types of structural abnormalities in chromosomes that are involved in genetic diseases. (medlineplus.gov)
  • There is increasing evidence that translocations occur at non-random sites in the genome, suggesting that certain regions of the genome are more susceptible to DNA breakage than others. (aacrjournals.org)
  • These findings confirmed the importance of incorporating genetic management and continuous monitoring to detect changes in the long-term survival of translocated populations. (springer.com)
  • Arnold EN (1980) Recently extinct reptile populations from Mauritius and Reunion, Indian-Ocean. (springer.com)
  • Bonin A, Nicole F, Pompanon F, Miaud C, Taberlet P (2007) Population adaptive index: a new method to help measure intraspecific genetic diversity and prioritize populations for conservation. (springer.com)
  • Bouzat JL, Johnson JA, Toepfer JE, Simpson SA, Esker TL, Westemeier RL (2009) Beyond the beneficial effects of translocations as an effective tool for the genetic restoration of isolated populations. (springer.com)
  • From 2005-2012, the research group characterized statewide genetic structure and diversity by using microsatellite and mitochondrial DNA data in 16 indigenous and translocated bighorn sheep populations in Arizona. (phys.org)
  • Translocation is a tool used in wildlife management that involves the intentional, human-mediated movement of individual animals, populations or species from one area with release in another. (phys.org)
  • Translocation of bighorn sheep in Arizona began in 1958, initially to augment numbers and maintain genetic integrity among populations of the two desert bighorn sheep lineages: Nelson and Mexican. (phys.org)
  • Populations that were recipients of translocated animals showed substantial genetic diversity, according to the paper. (phys.org)
  • This was contrary to previous studies that described "genetic bottlenecks," or low genetic diversity, as a result of translocation in certain populations, Ernest says. (phys.org)
  • Also, translocation efforts can include reintroducing whole populations into empty, historic habitats that have been used by bighorn sheep in the past, or by supplementing the smaller, weak populations that need fresh genetics. (phys.org)
  • Many ungulate populations have a complex history of isolation and translocation. (frontiersin.org)
  • To investigate the effect of this dual anthropogenic effect on the genetic landscape of ungulates, we genotyped 35K SNPs in 47 red deer ( Cervus elaphus ) of Netherlands, including putative autochthonous relic populations as well as allochthonous populations established in private estates and rewilding areas. (frontiersin.org)
  • Notwithstanding the small spatial scale, red deer populations formed distinct genetic clusters, and some had higher genetic similarity to distant than to nearby populations. (frontiersin.org)
  • Although the practice of releasing fish into the wild is common in the management and conservation of fish populations, the success of release programmes and the potential harmful genetic and ecological effects that may follow are rarely considered. (diva-portal.org)
  • While heterosis or genetic rescue effects may occur in F1 and later generations as the two source populations interbreed, we conclude that previous pathogen exposure was a more important marker than genetic heterozygosity for predicting survival of translocated animals. (escholarship.org)
  • 3) sampled healthy individuals from two freshwater bodies: the Mississipi River and the Great Lakes , and created two genetic lineages by having both populations isolated and reproducing in experimental ponds. (conservationbytes.com)
  • Dick Frankham (one of our collaborators) has quantified that the probability of outbreeding depression increases when mixing takes place between ( i ) different species, ( ii ) conspecifics adapted to different habitats, ( iii ) conspecifics with fixed chromosomal differences, and ( iv ) populations free of genetic flow with other populations for more than 500 years (2). (conservationbytes.com)
  • The adults migrate from the Pacific to their native river where they spawn two years after birth, with the particularity that there are two strict broodlines that spawn in either even or odd year - that is, the same species in the same river, but with a lack of genetic flow between populations. (conservationbytes.com)
  • Severe bottlenecks are expected to lead to increased inbreeding depression and the loss of genetic diversity, and hence reduce the long-term viability of postbottlenecked populations. (canterbury.ac.nz)
  • The results of this experiment suggest that inbred populations can be used as donors to reduce the effects of severe population bottlenecks and 'rescue' an endangered species from inbreeding depression but that the effect is strongest if there are some initial genetic differences between donor populations. (canterbury.ac.nz)
  • To confirm whether 'genetic rescue' through the use of inbred populations can be used in a free-living animal, I repeated the above experiment in a natural setting by conducting reciprocal translocations between two severely bottlenecked and isolated South Island robin Petroica australis populations. (canterbury.ac.nz)
  • Similarly, allelic richness increased significantly in both populations within the first year after the translocation. (canterbury.ac.nz)
  • Understanding the genetic architecture of phenotypic plasticity is required to assess how populations might respond to heterogeneous or changing environments. (uwindsor.ca)
  • Here, we use the North Carolina II breeding design and translocation experiments between two populations of Chinook salmon to detail the genetic architecture and plasticity of offspring survival and growth. (uwindsor.ca)
  • Translocations between populations revealed that offspring survival and growth varied between environments, the degree of which differed among families. (uwindsor.ca)
  • embryos from the remaining families were transferred after the identification of translocations. (cdc.gov)
  • Despite a mean maternal age of 29.8 years and mean of 4.34 embryos biopsied, there was a 32.8% chance of recording no chromosomally normal/balanced embryos for reciprocal translocation carriers. (cdc.gov)
  • Female carriers had a significantly lower (23.3 vs. 42.4%, 34.7 vs. 54.7%, respectively) percentage of normal/balanced embryos than male carriers, regardless of the translocation. (cdc.gov)
  • Pre-implantation Genetic Testing (PGT) allows us to test embryos before transfer. (carefertility.com)
  • People with chromosome rearrangements are at an increased risk of producing embryos with the incorrect amount of genetic material, which typically do not lead to a successful pregnancy. (carefertility.com)
  • To develop and validate a new strategy to distinguish between balanced/euploid carrier and noncarrier embryos in preimplantation genetic diagnosis (PGD) cycles for reciprocal translocations and to successfully achieve a live birth after selective transfer of a noncarrier embryo. (embies.com)
  • Baylor Medicine offers preimplantation genetic diagnosis, or PGD, to test embryos conceived through in vitro fertilization (IVF) that may be at risk for certain hereditary genetic conditions. (bcm.edu)
  • In a reciprocal translocation, two different chromosomes have exchanged segments with each other. (rochester.edu)
  • The purpose of this study was to evaluate the effectiveness of next-generation sequencing (NGS)-based preimplantation genetic testing (PGT) for balanced translocation carriers to identify normal/balanced blastocysts and to measure pregnancy outcomes following euploid embryo transfer. (cdc.gov)
  • Anaplastic lymphoma kinase (ALK) is an orphan receptor tyrosine kinase first identified as part of the t(2;5) chromosomal translocation associated with most anaplastic large cell lymphomas (ALCL) and a subset of T-cell non-Hodgkins lymphomas ( 1 ). (aacrjournals.org)
  • For example, the development of the drug imatinib (Gleevec)-one of the most successful targeted cancer therapies to date-stems directly from Rowley's work on the chromosomal translocation associated with CML. (thefreedictionary.com)
  • In mice and flies, the Arc protein forms capsids and carries genetic information. (the-scientist.com)
  • b) said second part comprising a portion of the translocation domain of a protein, provided that said hybrid molecule does not include an enzymatically active portion of said protein, and wherein said first part and said second part are not segments of the same naturally occurring protein. (google.com.au)
  • Protein translocation across the Escherichia coli plasma membrane is facilitated by concerted actions of the SecYEG integral membrane complex and the SecA ATPase. (asm.org)
  • We suggest that the proton motive force assists in the initiation phase of protein translocation. (asm.org)
  • The major constituents of the Sec protein translocation system (translocase) include the SecA translocation ATPase and integral membrane components SecY, SecE, and SecG ( 18 , 24 ). (asm.org)
  • These results suggest that the PMF has multiple roles in protein translocation in E. coli . (asm.org)
  • Selective contribution of the twin-arginine translocation pathway to protein secretion in Bacillus subtilis. (semanticscholar.org)
  • The Tat protein translocation pathway and its role in microbial physiology. (semanticscholar.org)
  • What is the definition of translocation mutation? (reference.com)
  • isolated FLT3 D835 mutation at relapse) in addition to the appearance of this newly described translocation. (hindawi.com)
  • We show that cyc maps near one end of Linkage Group 12 (LG 12) and that this region is involved in a reciprocal translocation with LG 2 in one gamma-ray induced mutation, cyc b213 . (genetics.org)
  • In biology , mutation is a sudden change in the base pair sequence of the genetic material of a living organism , whether the genetic material be deoxyribonucleic acid (DNA) or ribonucleic acid (RNA). (newworldencyclopedia.org)
  • A secY mutation ( secY39 ) affects Arg357, an evolutionarily conserved and functionally important residue, and impairs the translocation function in vivo and in vitro. (asm.org)
  • International study of factors affecting human chromosome translocations. (cdc.gov)
  • It results from a translocation, or exchange, of genetic material between the long arm of human chromosome 8 and the long arm of human chromosome 14. (encyclopedia.com)
  • Chromosome translocations in peripheral blood lymphocytes of normal, healthy humans increase with age, but the effects of gender, race, and cigarette smoking on background translocation yields have not been examined systematically. (cdc.gov)
  • Preimplantation genetic diagnosis (PGD) was first successfully performed in humans for prevention of X-linked disease in 1990 [ 1 ]. (ecerm.org)
  • Although indirect, our results strongly suggest that the PATRR adopts unstable cruciform structures during spermatogenesis that act as translocation hotspots in humans. (fujita-hu.ac.jp)
  • Just like T(12;15)-carrying B-lymphocytes and plasma cells in mice, the malignant transformation of LLA-CT-bearing blood cells in humans may be a rare occurrence that requires several genetic and environmental cofactors to take place. (mcw.edu)
  • The most common translocation in humans involves chromosomes 13 and 14 and is seen in about 0.97 / 1000 newborns. (wikipedia.org)
  • Strauss AW, Jelly DP: The molecular basis of cardiomyopathies due to genetic deficiencies of mitochondrial proteins. (clinicaltrials.gov)
  • Leukaemogenic MLL translocations encode MLL fusion proteins that have lost H3K4 methyltransferase activity. (nih.gov)
  • However, extensive analysis of type III effector proteins, Yops, from Yersinia , has identified two modular domains at the N terminus of Yops sufficient for secretion and translocation ( 14 ). (pnas.org)
  • RNA may be thought of as the intermediate between the DNA blueprint and the actual workings of the cell, serving as the template for the synthesis of proteins from the genetic information stored in DNA. (newworldencyclopedia.org)
  • This information is read using the genetic code, which specifies the sequence of the amino acids within proteins. (newworldencyclopedia.org)
  • Similarly, the first 20 aa of the effector proteins Map, EspF, and Tir, which are encoded in the same region as the TTSS, mediated secretion and translocation in a type III-dependent but chaperone-independent manner. (asm.org)
  • In conclusion, our results demonstrate that Cif is composed of a C-terminal effector domain and an exchangeable N-terminal translocation signal and that the TEM-1 reporter system is a convenient tool for the study of the translocation of toxins or effector proteins into host cells. (asm.org)
  • We propose that the Ab response against actin produced by tumor-infiltrating B lymphoplasmacytic cells is Ag-driven, affinity-matured, and elicited due to the increased rate of apoptosis occurring within the MCB tumor that facilitates the translocation and proteolytic fragmentation of intracellular proteins. (jimmunol.org)
  • Male carriers in whom the translocation was ascertained because of infertility or recurrent miscarriages appear to be at higher risk, whereas carriers in whom ascertainment was because of a family history are at lower risk. (nih.gov)
  • Both of them were translocation carriers. (bvsalud.org)
  • Basic semen analysis of the male patient and the fact that he had previously fathered a healthy child indicated that his fertility was not affected by his chromosomal translocation , contrary to previous literature reports stating that male balanced translocations carriers are prone to sterility. (thefreedictionary.com)
  • However, carriers of balanced reciprocal translocations have increased risks of creating gametes with unbalanced chromosome translocations, leading to Infertility, miscarriages or children with abnormalities. (wikipedia.org)
  • Most balanced translocation carriers are healthy and do not have any symptoms. (wikipedia.org)
  • The former results in a chromosomal abnormality featured in all cells of the offspring, as in translocation carriers. (wikipedia.org)
  • After 3 weeks in experimental aquaria, the proportion of survivors declined to nearly 30% in G2, and exceeded 80% in G1 and P. Clearly, crossing of different genetic lineages increased the susceptibility of this species to a pathogen, and the impact was most deleterious in G2. (conservationbytes.com)
  • Narrow genetic diversity limits genetic improvement of lentil, while susceptibility to diseases and weed infestations are the main production constraints. (frontiersin.org)
  • Peritoneal plasmacytomagenesis in inbred BALB/c mice affords an experimental model system for the study of the mechanism by which naturally occurring Myc (c-myc) translocations collaborate with host susceptibility factors and environmental influences in tumor development. (mcw.edu)
  • In a smaller number of patients with Burkitt's, the translocation involves chromosomes 2 and 22 or chromosomes 2 and 8. (encyclopedia.com)
  • Depending on where in your DNA the translocation occurs, it's very likely that you won't experience any side effects of your DNA chain being atypical. (healthline.com)
  • It mostly occurs when one of the parents harbors a balanced translocation involving chromosome 13. (hindawi.com)
  • To identify chromatin features that facilitate translocations, we have mapped histone modifications and DNase I hypersensitive sites (DHSs) at translocation-prone regions in anaplastic large cell lymphoma (ALCL) precursor cells. (aacrjournals.org)
  • Comparison with maps of M. truncatula and L. culinaris documented considerable shared synteny and led to the identification of a few major translocations and a major inversion that distinguish Lens from M. truncatula , as well as a translocation that distinguishes L. culinaris from L. ervoides . (frontiersin.org)
  • Inversion events are useful for maintaining the amount of genetic material. (wikipedia.org)
  • David D, Freixo JP, Fino J, Carvalho I, Marques M, Cardoso M, Piña-Aguilar RE, Morton CC. Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape. (harvard.edu)
  • Prenatal diagnosis revealed a female karyotype, with transmission of the maternal translocation with an unexpected different mosaic: 47,X,der(X)t(X;Y)x2/46,X,der(X)t(X;Y) karyotype. (biomedsearch.com)
  • Such translocations are usually harmless and may be found through prenatal diagnosis. (wikipedia.org)
  • Array comparative genomic hybridization (CGH) can detect translocation and 23 pairs of chromosomes that may replace FISH. (ecerm.org)
  • Translocations require the formation of DNA double-strand breaks (DSBs) at two or more genomic loci, followed by the illegitimate joining of broken chromosomal ends through DNA repair. (aacrjournals.org)
  • We hypothesize that altered chromatin structure predisposes genomic sites to DNA breakage and translocations. (aacrjournals.org)
  • Chromosome 10 was frequently involved in chromosomal translocation , which may be catastrophic genomic events and play key roles in tumorigenesis. (thefreedictionary.com)
  • Apparently, the natural loss of translocation-bearing peripheral lymphocytes cannot be fully compensated so that a temporal decline even of transmissible aberrations takes place. (arctichealth.org)
  • Tumors with a translocation/deletion tended to have lower Gleason scores than those without a translocation/deletion (P = 0.002). (prostatecancerinfolink.net)
  • This phase II MATCH trial studies how well treatment that is directed by genetic testing works in patients with solid tumors or lymphomas that have progressed following at least one line of standard treatment or for which no agreed upon treatment approach exists. (clinicaltrials.gov)
  • Identifying these genetic abnormalities first may help doctors plan better treatment for patients with solid tumors, lymphomas, or multiple myeloma. (clinicaltrials.gov)
  • Furthermore, we have identified the region of AvrBs2 required for both type III secretion and translocation to host plants. (pnas.org)
  • A truncated form of Cif lacking its first 20 aa was no longer secreted and translocated, but fusion with the first 20 aa of Tir, Map, or EspF restored both secretion and translocation. (asm.org)
  • In addition to effectors, the LEE sequence encodes chaperones CesT and CesF, which contribute to the secretion and translocation process of Tir/Map ( 1 , 5 , 11 ) and EspF ( 13 ), respectively. (asm.org)
  • Although these studies showed by biochemical or pharmacological methods that Nur77 mitochondrial translocation is coincident with apoptosis in T cells, direct genetic evidence linking specific intracellular translocation with onset of intrinsic apoptotic program in T cells has not yet been demonstrated. (jimmunol.org)
  • For translocation T14, which has very short interstitial segments, significant differences in segregation between the sexes were found. (wur.nl)
  • The very low frequencies or absence of adjacent 2 in the other four translocations is attributed to their longer interstitial segments. (wur.nl)
  • the transfer of segments between nonhomologous chromosomes in such a way that the configuration and total number of chromosomes change, but each cell contains the normal amount of diploid or haploid genetic material. (thefreedictionary.com)
  • In our series, unbalanced t(1;16) chromosomal translocations were a major pathway for Chr16 loss of heterozygosity, and this LOH was correlated significantly with tumor anaplasia. (nih.gov)
  • In this study, we provide biochemical, pharmacological, and genetic evidence demonstrating that Nur77 induces apoptosis through the activation of the intrinsic pathway in T cells. (jimmunol.org)
  • Analysis of a phosphorylation site within one of the presequence-interacting regions revealed altered translocation kinetics along the presequence pathway. (asm.org)
  • they are thought to form a channel-like translocation pathway as well as a high-affinity SecA-binding site in the membrane. (asm.org)
  • Families at risk for genetic diseases may want to talk with a certified genetic counselor. (uhhospitals.org)
  • This investigation indicates that translocation of foreign individuals into a self-reproducing population can not only import diseases, but also weaken its descendants' resistance to future epidemics. (conservationbytes.com)
  • It gains a gradually important role in the prevention for Mendelian hereditary diseases and unbalanced chromosomal translocation. (ecerm.org)
  • Causation of human diseases Genetic Inborn errors of metabolism. (slideshare.net)
  • Genetic diseases such as Huntington's disease, Duchenne muscular dystrophy, phenylketonuria and β-thalassemia can thus be diagnosed through the analysis of nucleic acids of individuals. (google.com)
  • Under the combined pressures of invasive species, habitat loss and fragmentation and climate change, translocations are considered a powerful tool in conservation of threatened and endangered species. (springer.com)
  • Compared with the control group, a significantly elevated translocation frequency was found for the total study group and for either of two subsets with (48 subjects) and without (27 subjects) plutonium incorporation. (arctichealth.org)
  • Further, the shape of the relationship between age and translocation frequency (TF) has not been definitively determined. (cdc.gov)
  • Routine diagnostic x-ray examinations and increased frequency of chromosome translocations among US radiologic technologists. (cdc.gov)
  • The relationship between dose score and chromosome translocation frequency was assessed using Poisson regression. (cdc.gov)
  • Breast and Bowel Cancers Intellectual disability Hearing or visual disability Infertility or multiple miscarriages or infant deaths Genetic defects occurring frequently in special ethnic and rational groups e.g. (slideshare.net)
  • 3. Genetic basis in cases of abnormal sexual development, infertility, recurrent abortion & congenital malformations. (slideshare.net)
  • Infertility: One of the would-be parents carries a balanced translocation, where the parent is asymptomatic but conceived fetuses are not viable. (wikipedia.org)
  • In the absence of a family history for genetic disease, what is the risk of genetic disorder/birth defect in first cousins of Iranian des. (medhelp.org)
  • The parents have another child with a genetic disorder. (uhhospitals.org)
  • There is a family history of a genetic disorder. (uhhospitals.org)
  • Genetic counseling also helps parents understand the effects of a disorder and ways it may be prevented or treated. (uhhospitals.org)
  • occur when a chromosome breaks and some genetic material is lost. (medlineplus.gov)
  • Reciprocal translocations are usually an exchange of material between non-homologous chromosomes and occur in about 1 in 491 live births. (wikipedia.org)
  • It is important to distinguish between chromosomal translocations occurring in gametogenesis, due to errors in meiosis, and translocations that occur in cellular division of somatic cells, due to errors in mitosis. (wikipedia.org)
  • Genetic rescue" via hybrid translocations may provide needed adaptive flexibility for rapid adaptation to environmental change. (mdpi.com)
  • 2012, Graduate Research, Assessing the Need for and Impact of Translocation as a Means of Genetic Rescue in a Declining Population of Sharp-Tailed Grouse (Tympanuchus phasianellus). (cmich.edu)
  • For example, the diagnostic hallmark of chronic myelogenous leukemia (CML) is an oncogene fusion formed from a reciprocal translocation (t(9;22)(q34.1;q11.2)) between chromosomes 9 and 22 that results in an altered chromosome 22q known as the Philadelphia chromosome. (ubc.ca)
  • Somatic translocations, on the other hand, result in abnormalities featured only in the affected cell line, as in chronic myelogenous leukemia with the Philadelphia chromosome translocation. (wikipedia.org)
  • These structures are unstable and often involve a loss of some genetic material. (medlineplus.gov)
  • Yet, translocation also can alter the underlying genetic diversity and spatial structure of managed wildlife species in both beneficial and detrimental ways. (phys.org)
  • Is there a spatial genetic structure in the European eel that must be considered in the management of this rapidly declining species? (diva-portal.org)
  • In the absence of these factors, the frequencies of genetic traits in a population remain about the same over time, and the species do not evolve. (reference.com)
  • When individuals of a species move from one population to another, this decreases the genetic variability within the population that they left, and increases the variability of the population to which they move. (reference.com)
  • this can be compared to a "normal" karyotype for the species via genetic testing . (wikipedia.org)
  • Comparative genetic maps of five grass species: rice, foxtail millet, sorghum, maize and barley. (els.net)
  • Three translocations that are found only in the Panicoid species (maize, sorghum and foxtail millet) are shown in red. (els.net)
  • In contrast to FL carrying the t(14;18), their t(14;18)-negative counterparts are less well studied about their immunohistochemical, genetic, molecular, and clinical features. (bloodjournal.org)
  • To gain insight to the molecular events that may elicit such an Ab response, we examined the translocation of actin to the cell surface of apoptotic MCB cells using flow cytometry and laser scanning cytometry. (jimmunol.org)
  • The signature molecular abnormality of synovial sarcoma consists of a balanced chromosomal translocation t(X;18)(p11;q11) that results in an in-frame fusion of SS18 to SSX1, SSX2, or in rare instances, SSX4. (thefreedictionary.com)
  • This can happen with or without loss of genetic material. (wikipedia.org)
  • If there is a gain or loss of genetic material, the translocation is described as unbalanced . (medlineplus.gov)
  • The positions of 240 translocation breakpoints were integrated as physical landmarks into linkage maps of the seven barley chromosomes. (genetics.org)
  • We find enrichment of active histone marks and a decrease in repressive marks near frequent translocation breakpoints. (aacrjournals.org)
  • I am a male and yesterday I learned that I have a balanced translocation of chromosomes 14 & 17. (medhelp.org)
  • The translocation in this example is between chromosomes 14 and 21. (rochester.edu)
  • The genetic hallmark of FL is the chromosomal translocation t(14;18)(q32;q21) that leads to deregulated expression of the antiapoptotic BCL2 protooncogene in the tumor cells, thus allowing for the acquisition of secondary chromosomal alterations in the germinal center environment where the most nonneoplastic B cells are physiologically destined to undergo apoptosis. (bloodjournal.org)
  • Analyses of this study show significant genetic differences within each desert bighorn sheep lineage and, thus, suggest an important difference from current management practices that consider each lineage to be a single genetic unit. (phys.org)
  • We applied F ST and ordination analyses to determine the meta-population genetic structure and thereby the occurrence of hybridization. (frontiersin.org)
  • In sharp contrast to recently published studies, the present genetic analyses of European eels sampled across the whole distribution range suggest no spatial genetic structure but a subtle temporal genetic heterogeneity within sampled locations. (diva-portal.org)
  • Patients who are eligible to apply for Extended Access Program of crizotinib must have ALK translocation detected by RT-PCR, IHC or FISH analyses methods. (clinicaltrials.gov)
  • These results show that chromosomal rearrangements can provide useful resources for mapping and genetic analyses in zebrafish. (genetics.org)
  • Out-of-town patients can be monitored in their home location, but biopsy and genetic analysis must be completed in Houston. (bcm.edu)
  • We explored this topic by examining whether genetic background and previous pathogen exposure influenced survival of translocated animals when captive-bred and free-ranging bighorn sheep (Ovis canadensis) were used to re-establish a population that had been extirpated in the San Andres Mountains in New Mexico, USA. (escholarship.org)
  • Results Although the free-ranging source population had significantly higher multi-locus heterozygosity at 30 microsatellite loci than the captive bred animals, neither source population nor genetic background significantly influenced survival or cause of death. (escholarship.org)
  • The presence of antibodies to a respiratory virus known to cause pneumonia was associated with increased survival, but there was no correlation between genetic heterozygosity and the presence of antibodies to this virus. (escholarship.org)
  • Conclusions Although genetic theory predicts otherwise, increased heterozygosity was not associated with increased fitness (survival) among translocated animals. (escholarship.org)
  • Survival rates of different genetic lineages of largemough bass following inoculation of a pathogen (3). (conservationbytes.com)
  • median survival after the translocation was detected was 11.9 months. (biomedsearch.com)
  • In one population, we found that additive genetic, nonadditive genetic and maternal effects explained 25%, 34% and 55% of the variance in larvae survival, respectively. (uwindsor.ca)
  • In contrast, fry survival was regulated primarily by additive genetic effects, which indicates a shift from maternal to genetic effects as development proceeds. (uwindsor.ca)
  • Mouse plasmacytoma is initiated in approximately 80% of cases by a balanced chromosomal T(12;15)(Igh-Myc) translocation that results in a mode of Myc deregulation that renders the survival and outgrowth of the translocation-bearing tumor precursor exquisitely dependent upon factors provided by sustained inflammation (IL-6) and gut flora microbes. (mcw.edu)