A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
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 locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.
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.
Any method used for determining the location of and relative distances between genes on a chromosome.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
Mapping of the KARYOTYPE of a cell.
In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
Actual loss of portion of a chromosome.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
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.
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 GROUP C CHROMSOMES of the human chromosome classification.
Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.
The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP B 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.
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)
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.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.
Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.
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.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
The alignment of CHROMOSOMES at homologous sequences.
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
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 large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
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.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
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 co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
Aberrant chromosomes with no ends, i.e., circular.
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.
Structures within the CELL NUCLEUS of insect cells containing DNA.
The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.
Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.
The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.
The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.
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.
A type of CELL NUCLEUS division, occurring during maturation of the GERM CELLS. Two successive cell nucleus divisions following a single chromosome duplication (S PHASE) result in daughter cells with half the number of CHROMOSOMES as the parent cells.
A dosage compensation process occurring at an early embryonic stage in mammalian development whereby, at random, one X CHROMOSOME of the pair is repressed in the somatic cells of females.
The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.
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 multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
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.
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
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 variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)
Structures which are contained in or part of CHROMOSOMES.
The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.
A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.
A technique with which an unknown region of a chromosome can be explored. It is generally used to isolate a locus of interest for which no probe is available but that is known to be linked to a gene which has been identified and cloned. A fragment containing a known gene is selected and used as a probe to identify other overlapping fragments which contain the same gene. The nucleotide sequences of these fragments can then be characterized. This process continues for the length of the chromosome.
Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.
Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.)
Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
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).
The possession of a third chromosome of any one type in an otherwise diploid cell.
Short tracts of DNA sequence that are used as landmarks in GENOME mapping. In most instances, 200 to 500 base pairs of sequence define a Sequence Tagged Site (STS) that is operationally unique in the human genome (i.e., can be specifically detected by the polymerase chain reaction in the presence of all other genomic sequences). The overwhelming advantage of STSs over mapping landmarks defined in other ways is that the means of testing for the presence of a particular STS can be completely described as information in a database.
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE).
Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).
Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.
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.
DNA present in neoplastic tissue.
The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
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.
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 terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)
A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences. It is used to look for large sequence changes such as deletions, duplications, amplifications, or translocations.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.
The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
A characteristic symptom complex.
Any tests that demonstrate the relative efficacy of different chemotherapeutic agents against specific microorganisms (i.e., bacteria, fungi, viruses).
A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
Low-copy (2-50) repetitive DNA elements that are highly homologous and range in size from 1000 to 400,000 base pairs.
The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
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.
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.
An aberration in which an extra chromosome or a chromosomal segment is made.
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.
An individual having different alleles at one or more loci regarding a specific character.
The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.
DNA constructs that are composed of, at least, all elements, such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, required for successful replication, propagation to and maintainance in progeny human cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.
Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.
Deletion of sequences of nucleic acids from the genetic material of an individual.
Metacentric chromosomes produced during MEIOSIS or MITOSIS when the CENTROMERE splits transversely instead of longitudinally. The chromosomes produced by this abnormal division are one chromosome having the two long arms of the original chromosome, but no short arms, and the other chromosome consisting of the two short arms and no long arms. Each of these isochromosomes constitutes a simultaneous duplication and deletion.
Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.
Proto-oncogene protein bcr is a serine-threonine kinase that functions as a negative regulator of CELL PROLIFERATION and NEOPLASTIC CELL TRANSFORMATION. It is commonly fused with cellular abl protein to form BCR-ABL FUSION PROTEINS in PHILADELPHIA CHROMOSOME positive LEUKEMIA patients.
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)
Genotypic differences observed among individuals in a population.
Nucleoproteins, which in contrast to HISTONES, are acid insoluble. They are involved in chromosomal functions; e.g. they bind selectively to DNA, stimulate transcription resulting in tissue-specific RNA synthesis and undergo specific changes in response to various hormones or phytomitogens.
Genetic loci associated with a QUANTITATIVE TRAIT.
Mapping of the linear order of genes on a chromosome with units indicating their distances by using methods other than genetic recombination. These methods include nucleotide sequencing, overlapping deletions in polytene chromosomes, and electron micrography of heteroduplex DNA. (From King & Stansfield, A Dictionary of Genetics, 5th ed)
A microtubule structure that forms during CELL DIVISION. It consists of two SPINDLE POLES, and sets of MICROTUBULES that may include the astral microtubules, the polar microtubules, and the kinetochore microtubules.
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
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.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
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.
Contiguous large-scale (1000-400,000 basepairs) differences in the genomic DNA between individuals, due to SEQUENCE DELETION; SEQUENCE INSERTION; or SEQUENCE INVERSION.
The interval between two successive CELL DIVISIONS during which the CHROMOSOMES are not individually distinguishable. It is composed of the G phases (G1 PHASE; G0 PHASE; G2 PHASE) and S PHASE (when DNA replication occurs).
The relationships of groups of organisms as reflected by their genetic makeup.
Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.
Interruptions in the sugar-phosphate backbone of DNA.
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.
Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.
Established cell cultures that have the potential to propagate indefinitely.
The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)
The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.
Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
The process by which a DNA molecule is duplicated.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.
Either of the two longitudinally adjacent threads formed when a eukaryotic chromosome replicates prior to mitosis. The chromatids are held together at the centromere. Sister chromatids are derived from the same chromosome. (Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
The Alu sequence family (named for the restriction endonuclease cleavage enzyme Alu I) is the most highly repeated interspersed repeat element in humans (over a million copies). It is derived from the 7SL RNA component of the SIGNAL RECOGNITION PARTICLE and contains an RNA polymerase III promoter. Transposition of this element into coding and regulatory regions of genes is responsible for many heritable diseases.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
The sequential location of genes on a chromosome.
PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.
A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.
Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.
An individual in which both alleles at a given locus are identical.
Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.
Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
Genes that influence the PHENOTYPE only in the homozygous state.
The material of CHROMOSOMES. It is a complex of DNA; HISTONES; and nonhistone proteins (CHROMOSOMAL PROTEINS, NON-HISTONE) found within the nucleus of a cell.
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.
Biochemical identification of mutational changes in a nucleotide sequence.
The GENETIC TRANSLATION products of the fusion between an ONCOGENE and another gene. The latter may be of viral or cellular origin.
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.
A form of GENE LIBRARY containing the complete DNA sequences present in the genome of a given organism. It contrasts with a cDNA library which contains only sequences utilized in protein coding (lacking introns).
Substances that reduce the growth or reproduction of BACTERIA.
The first phase of cell nucleus division, in which the CHROMOSOMES become visible, the CELL NUCLEUS starts to lose its identity, the SPINDLE APPARATUS appears, and the CENTRIOLES migrate toward opposite poles.
A nucleic acid sequence that contains an above average number of ADENINE and THYMINE bases.
Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
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 latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
The simultaneous identification of all chromosomes from a cell by fluorescence in situ hybridization (IN SITU HYBRIDIZATION, FLUORESCENCE) with chromosome-specific florescent probes that are discerned by their different emission spectra.
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.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)
The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)
Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.
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.
The degree of replication of the chromosome set in the karyotype.
Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).
Male germ cells derived from SPERMATOGONIA. The euploid primary spermatocytes undergo MEIOSIS and give rise to the haploid secondary spermatocytes which in turn give rise to SPERMATIDS.
Genes that are located on the X CHROMOSOME.
The functional hereditary units of INSECTS.
Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.
Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.

A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements. (1/164)

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Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. (2/164)

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Exon array profiling detects EML4-ALK fusion in breast, colorectal, and non-small cell lung cancers. (3/164)

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Healing of euchromatic chromosome breaks by efficient de novo telomere addition in Drosophila melanogaster. (4/164)

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Inferring tumor progression from genomic heterogeneity. (5/164)

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Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12). (6/164)

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The t(14;18)(q32;q21)/IGH-MALT1 translocation in MALT lymphomas contains templated nucleotide insertions and a major breakpoint region similar to follicular and mantle cell lymphoma. (7/164)

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Long-range oncogenic activation of Igh-c-myc translocations by the Igh 3' regulatory region. (8/164)

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Abstract: We present an overview of the Bellerophon software system, which has been built to support CHIMERA, a production-level HPC application that simulates the evolution of core-collapse supernovae. Developed over the last 5 years at ORNL, Bellerophon enables CHIMERAs geographically dispersed team of collaborators to perform job monitoring and real-time data analysis from multiple supercomputing resources, including platforms at OLCF, NERSC, and NICS. Its multi-tier architecture provides an encapsulated, end-to-end software solution that enables the CHIMERA team to quickly and easily access highly customizable animated and static views of results from anywhere in the world via a cross-platform desktop application. Bellerophons robust artifact management system enables complete provenance tracking and provides direct access to all data files, renderings, and associated metadata though the client-side user interface. Bellerophon has quickly evolved into the CHIMERA teams de facto workflow ...
Genomes undergo large structural changes that alter their organisation. The chromosomal regions affected by these rearrangements are called breakpoints, while those which have not been rearranged are called synteny blocks. We developed a method to precisely delimit rearrangement breakpoints on a genome by comparison with the genome of a related species. Contrary to current methods which search for synteny blocks and simply return what remains in the genome as breakpoints, we propose to go further and to investigate the breakpoints themselves in order to refine them. Given some reliable and non overlapping synteny blocks, the core of the method consists in refining the regions that are not contained in them. By aligning each breakpoint sequence against its specific orthologous sequences in the other species, we can look for weak similarities inside the breakpoint, thus extending the synteny blocks and narrowing the breakpoints. The identification of the narrowed breakpoints relies on a segmentation
JoVE publishes peer-reviewed scientific video protocols to accelerate biological, medical, chemical and physical research. Watch our scientific video articles.
JoVE publishes peer-reviewed scientific video protocols to accelerate biological, medical, chemical and physical research. Watch our scientific video articles.
Bellerophon Therapeutics, which is developing nitric oxide-based therapies for cardiopulmonary diseases, filed on Tuesday with the SEC to raise up to.
Hi Karla, The 1. no extension file you mention is the XMFA file. Now, onto your question about LCB boundaries, the quantities you are asking for actually ill-defined. The issue is that when unequal gene content is present in a genome alignment, and there are three or more genomes involved, it is no longer possible to precisely delimit the boundaries of LCBs. The blocks reported by progressiveMauve can have (but do not always have) arbitrary endpoints that do not necessarily indicate exactly where the rearrangement breakpoint is located. Nevertheless, if you want to simply convert the coordinates in the XMFA, which use a coordinate system defined by concatenating all contigs in a genome in the order they appear in the input file, to contig-local coordinates that should be possible, and would require you to do a bit of custom scripting. Best, -Aaron On Fri, 2016-10-07 at 12:13 -0300, Karla Pollyanna wrote: , Dear all, , , Im struggling in a Mauve analysis and wonder if someone could help , me. ...
Procedure: See Procedure 851-Bellerophon. Results: D-10199 entered Secure Testing Site-109 at point S. The following is the recorded transcript:. ,Begin Log, [00:00:00],. 00:00:02: D-10199 enters hallway from point S. CCTV monitoring reports normal from point S, F1 and F2.. Lead researcher, Dr. L███ [00:00:12]:D-10199, Please remain where you are until you are instructed otherwise. Report any signs of movement.. 00:00:14: D-10199 does as instructed. 00:00:54: D-10199 has not reported any activity for nearly one (1) minute.. Lead researcher, Dr. L███ [00:00:59]: D-10199, Please take note of the pictures on the walls beside you. You may proceed down the hallway but please examine each one carefully.. 00:01:27: D-10199 continues down the hallway often crossing sides to carefully examine each picture. At roughly 8 meters from point S, D-10199 quickly makes a start toward point CP.. D-10199 [00:01:28]: What the [Expletive] was that? What the [Expletive] is in here with me?. 00:01:30: ...
FusionMap is an efficient fusion aligner which aligns reads spanning fusion junctions directly to the genome without prior knowledge of potential fusion regions. It detects and characterizes fusion junctions at base-pair resolution. FusionMap can be applied to detect fusion junctions in both single- and paired-end dataset from either gDNA-Seq or RNA-Seq studies ...
A challenge for functional genomics has been to make meaningful global measurements of the interactions between transcription factors (and cofactors) and DNA. It has been difficult, especially in large genomes, to explicitly map individual binding sites and individual factor-target gene interactions. Johnson et al. (see the Perspective by Fields) have developed a combination of chromatin immunoprecipitation and ultrahigh-throughput sequencing to achieve high specificity and 50-base pair resolution. This approach was used to study regulation by neuron-restrictive silencer factor (NRSF, also known as REST, for repressor element-1 silencing transcription factor) and identify targets of key positive regulators of pancreatic neuroendocrine development. D. S. Johnson, A. Mortazavi, R. M. Myers, B. Wold, Genome-wide mapping of in vivo protein-DNA interactions. Science 316, 1497-1502 (2007). [Abstract] [Full Text]. S. Fields, Site-seeing by sequencing. Science 316, 1441-1442 (2007). [Summary] [Full ...
FDA opens up Bellerophons gas therapy for COVID-19. Using a regulatory pathway that allows patients with life-threatening conditions to use unapproved therapies, the FDA has granted emergency expanded access to Bellerophon Therapeutics inhaled nitric oxide delivery system for treating the novel coronavirus.. Also known as compassionate use, the agencys policy is typically administered on a per-patient basis-at times when clinical trials are infeasible, the benefits are seen to outweigh the risks, and there are no available alternatives.. According to Bellerophon, the FDAs decision now opens up its INOpulse system for use at high-doses in ventilated COVID-19 patients, immediately.. Inhaled nitric oxide acts as a vasodilator, relaxing the lungs muscles and blood vessels, and is used in hospitals worldwide. Bellerophon has been researching its use to combat potentially harmful high blood pressure in the lungs among patients with chronic obstructive pulmonary disease, pulmonary fibrosis, ...
Read Breakpoint mapping positions the callipyge gene within a 450-kilobase chromosome segment containing the DLK1 and GTL2 genes, Mammalian Genome on DeepDyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips.
Looking for Chimarism? Find out information about Chimarism. see Bellerophon Bellerophon , in Greek mythology, son of Glaucus originally called Hipponoüs. He changed his name after he murdered a countryman and was... Explanation of Chimarism
My laboratory focuses on the molecular characterization of human chromosome abnormalities. Molecular methods such as fluorescence in situ hybridization (FISH) mapping using YAC or BAC clones, microsatellite allelotyping, and sequencing analysis of SNP variants and gene mutations have been used. We are initiating high through-put chromosome-specific and genome-wide array-based analysis for mapping segmental deletions/duplication and sequencing rearrangement breakpoints. The goals of this laboratory are to identify disease-causing genes or genetic markers of diagnostic and prognostic values, and to dissect underlying molecular mechanisms.. ...
Various approaches for controlling simulation of an electronic system are disclosed. In one approach, at least one breakpoint block is instantiated in a high-level design. The breakpoint block has an associated breakpoint condition driven by at least one signal of the design, and the design further includes at least one simulation block and at least one co-simulation block. The simulation block is simulated on a software-based simulation platform, and the co-simulation block and the breakpoint block are co-simulated on a hardware-based co-simulation platform. Advancement of a clock signal to the co-simulation block on the hardware-based co-simulation platform is inhibited in response to satisfaction of the breakpoint condition. After inhibiting the clock signal, advancement of steps of the clock signal is controlled on the co-simulation platform in one of a plurality of user-selectable clock advancement modes.
A streams manager monitors data tuples processed by a streaming application represented by an operator graph. The streams manager includes a tuple breakpoint mechanism that allows defining a tuple breakpoint that fires when a tuple has been in the operator graph too long. What constitutes too long can be defined in a number of different ways, including a time limit, a processing limit for multiple operators, and a processing limit for an individual operator. When the tuple breakpoint fires, one or more operators in the operator graph are halted according to specified halt criteria. Information corresponding to the breakpoint that fired is then displayed. The tuple breakpoint mechanism thus provides a way to debug a streaming application that may have data tuples that stay in the operator graph too long.
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Find all books from A.B. Harris - Breakpoint: Stress and the Crisis of Modern Living. At find-more-books.com you can find used, antique and new books, COMPARE results and immediately PURCHASE your selection at the best price. 0855000937
Looking for SPECTRUM 2,5-Dimethylbenzoic Acid,10g (29ZC23)? Graingers got your back. Price:$85.75. Easy ordering & convenient delivery. Log-in or register for your pricing.
It then assumes some esoteric quality for those wise enough to grasp the enormity of these simple, all be in antiquated truths.. In my own merited arrogance, for instance, I oft reflect upon the Ancient Wisdom of Bellerophon, who after a succession of heroic deeds, and in particular his victory over the chimera - which was won with the aid of his winged horse Pegasus, Bellerophon tried to seize the throne of Zeus. The gods in council symbolize the law which confines mans aims and ambitions within just bounds, while Bellerophons attempt typifies mans vanity developed into a perverted desire to dominate. cloaked in the form of the highest degree of daring. Defeated, Bellerophon was confined in Hell with other ambitious figures. Imagine that - failed ambitions reserves a place in hell, do they? Poor sports!. What exactly is there to glean from Bellerophons victory over the chimera? A hybrid monster with a Lions head, a Goats body and a Dragons tail, begotten by Typhon on Echidna, whose ...
Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations ...
Feel welcome to come and check the jungle for tons of articles, interesting tutorials, creative competitions and the simple joy of happy painting hidden behind every tree. We hope that everyone finds their own banana in here, if not do not hesitate to ask the apes. We are more than happy for you to post in the comments section to help turn this jungle into the lush, overgrown painting corner we hope it will become ...
During my first few years teaching at Columbia Law School, I encountered a reminder of the laws conventional opposition of reason and emotion whenever I looked out my office window, which opened up into the bowels of a famous Jacques Lipchitz statue of Bellerophon taming Pegasus. That office was considered undesirable (which is why I had it as a junior faculty member), and it was later turned into open space during building renovations, but I found the view through the statue interesting (albeit less conducive to quiet thought than my current views of Cayuga Lake and a waterfall). In any event, the statue was meant to symbolize Law (Bellerophon) bringing passion (Pegasus) under its control. As my former colleague Peter Strauss used to note, however, if you look closely at the statue you see something more like the opposite: Pegasus begins where Bellerophons head should be, suggesting that passion has overtaken reason; Professor Strauss would also note that Lipchitz agreed to create the statue ...
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 ...
Further we asked if VLA-4 and VLA-5 integrin upregulation is maintained by RUNX1/ETO in the transformed human leukemia cell line Kasumi-1, derived from a t(8;21)+ AML patient. Kasumi-1 cells, which express RUNX1/ETO and to a lesser extent RUNX1/ETOtr,4 bear high levels of VLA-4 whereas the integrin αL subunit is absent in these cells. We specifically down-regulated RUNX1/ETO via lentivirally delivered shRNA targeting the RUNX1/ETO breakpoint sequences (shRE), which are present in both full length and truncated forms (Online Supplementary Figure S3). At Day 4 after transduction with vectors co-expressing shRE and eGFP, α4, α5 and β1 expression levels were significantly reduced as assessed using flow cytometry, while CXCR4 levels remained unaltered (Figure 1I). Similar results were obtained with NHR2 competitive peptides (N89) (Figure 1J), which also interfere with both RUNX1/ETO forms by disrupting RUNX1/ETO tetramer formation.6 These results suggest that integrin subunit expression remains ...
Rampant city development in the worlds most ecologically fragile region will have disastrous consequences if left unchecked. Beth Walker introduces a new chinadialogue series on urbanisation in the Himalayas.
Billions of locusts are swarming fragile regions around the world, destroying crops and threatening critical food supplies for millions of people.
hello again everyone. i have automated a tracks MIXER , VOLUME automation with a range of breakpoints in a sawtooth pattern, causing rapid swells that create a bowing volume effect -- one point at low, the next at high, the next at low, and so forth; rapidly (yet randomly) alternating.. now id like to trim a bit off all the high points without changing any of the bottom points.. i could use a compressor audio effect, but id like to see if i can do this by editing the automation.. essentially, im trying to find a way in LIVE to marquee a set of points horizontally, but limit the vertical range so that only a specific horizontal strip of points are selected, and then squash the entire top down a bit without changing the status of the bottom.. but as far as i can discover, within any given range of selected time you can either grab a single anchor point, or ALL the points within that time (even if some are ones you want to leave in place).. i have tried both pencil and arrow, no dice. and ...
Recombinant protein of human Ewing sarcoma breakpoint region 1 (EWSR1), transcript variant EWS, 20 ug available for purchase from OriGene - Your Gene Company.
Puritans sterile PurFlock Ultra flocked swab 25-3506-U features an elongated tip for effective collection of bacterial or micro-organisms.
Process has been suspended. This event can be used by the debugger module to signal if the process spontaneously gets suspended (not because of an exception, breakpoint, or single step). IDA will silently switch to the suspended process mode without displaying any messages. ...
Background Multiple genome alignment remains a challenging problem. Effects of recombination including rearrangement, segmental duplication, gain, and loss can create a mosaic pattern of homology even among closely related organisms. Methodology/Principal Findings We describe a new method to align two or more genomes that have undergone rearrangements due to recombination and substantial amounts of segmental gain and loss (flux). We demonstrate that the new method can accurately align regions conserved in some, but not all, of the genomes, an important case not handled by our previous work. The method uses a novel alignment objective score called a sum-of-pairs breakpoint score, which facilitates accurate detection of rearrangement breakpoints when genomes have unequal gene content. We also apply a probabilistic alignment filtering method to remove erroneous alignments of unrelated sequences, which are commonly observed in other genome alignment methods. We describe new metrics for quantifying ...
A Lycian king at Troy, son of Zeus and grandson of Bellerophon. He is killed by Patroklos, wearing Achilles armour. His body is shown being carried from the field by Sleep and Death (Hypnos and Thanatos) who are sometimes shown as warrior figures, and winged ...
My latest installment of Perception Of Sound that was broadcasted on http://www.edmcentral.fm on the 28/11/2013 Featuring music from Activa, Thomas Datt, Lostly, Simon Patterson & Digital Blonde 01. Activa feat Julie Harrington - Away From This (Ambient Mix) 02. Thomas Datt - Its In The Past 03. Gal Abutbul - Serenity 04. Dave Asprey - Bellerophon 05. Lostly - More Lost Than Found 06. Bowdidge & Taylor - Flash Back
An information processing system such as a microprocessor includes a processor core, a debug register circuit and a trace unit. The processor core is for processing information according to a program. The program includes a plurality of instructions for execution by the processor core. Each of the plurality of instructions has a corresponding address. The debug register circuit is coupled to the processor core. The debug register circuit includes a dedicated initiate trace breakpoint register coupled to receive and store an initiate trace address and a dedicated terminate trace breakpoint register coupled to receive and store a terminate trace address. The trace unit is coupled to the debug register circuit and the processor core. The trace unit initiates a program trace responsive to the program accessing the initiate trace address. The trace unit terminates the program trace responsive to the program accessing the terminate trace address. The program trace includes information regarding the execution
Category: BreakPoint, Christian Worldview. Tonight President Clinton will give his State of the Union address-and hell be giving it at a time when most..Read more ...
Chromosomal translocations are genetic hallmarks of most cancer cells. 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. 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. We hypothesize that altered chromatin structure predisposes genomic sites to DNA breakage and translocations. 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. We find enrichment of active histone marks and a decrease in repressive marks near frequent translocation breakpoints. In a complementary approach using genome-wide histone modification mapping we have identified altered ...
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 ...
Background Duplications and deletions in the human genome can cause disease or predispose persons to disease. Advances in technologies to detect these changes allow for the routine identification of submicroscopic imbalances in large numbers of patients. Methods We tested for the presence of microdeletions and microduplications at a specific region of chromosome 1q21.1 in two groups of patients with unexplained mental retardation, autism, or congenital anomalies and in unaffected persons. Results We identified 25 persons with a recurrent 1.35-Mb deletion within 1q21.1 from screening 5218 patients. The microdeletions had arisen de novo in eight patients, were inherited from a mildly affected parent in three patients, were inherited from an apparently unaffected parent in six patients, and were of unknown inheritance in eight patients. The deletion was absent in a series of 4737 control persons (P=1.1x10?7). We found considerable variability in the level of phenotypic expression of the ...
gdb) info breakpoints Num Type Disp Enb Address What 1 breakpoint keep n 0x000000000040b0e2 in visitorTraversal::visit(SgNode*) at demo.C:22 2 breakpoint keep y 0x00007ffff3d6495f in SgForStatement::post_construction_initialization() at Cxx_Grammar.C:139566 stop only if (unsigned long)this==(unsigned long)0x7fffe87db138 breakpoint already hit 1 time (gdb) r Starting program: /home/liao6/workspace/rose/2019-10-31_14-16-05_-0700/myTranslator/./demo -c inputCode_ExampleTraversals.C [Thread debugging using libthread_db enabled] Using host libthread_db library /lib64/libthread_db.so.1. Breakpoint 2, SgForStatement::post_construction_initialization (this=0x7fffe87db138) at Cxx_Grammar.C:139566 139566 if (p_for_init_stmt == NULL) { // the data member storing parent pointer of an AST node is p_parent // it is now have NULL value (gdb) p p_parent $3 = (SgNode *) 0x0 // we obtain the memory address of p_parent (gdb) p &p_parent $4 = (SgNode **) 0x7fffe87db140 // watch value changes of this address // ...
Ryan Collins, Harrison Brand, Daniel MacArthur, and Mike Talkowski The first gnomAD structural variant (SV) callset is now available via the gnomAD website and integrated directly into the gnomAD Browser. This initial gnomAD SV callset includes nearly a half-million distinct SVs across seven SV mutational classes and 13 subclasses of complex SVs detected in 14,891…
EWSR1 - EWSR1 (Myc-DDK-tagged)-Human Ewing sarcoma breakpoint region 1 (EWSR1), transcript variant 1 available for purchase from OriGene - Your Gene Company.
Scattergram #2 -- Correlation of TMP/SMX MIC and zone diameters for S. pneumoniae. Horizontal and vertical lines represent MIC and zone diameter breakpoints. In this case, the isolates form a continuum, with the breakpoint for resistant and susceptible not being obvious. In this case one can not predict how the isolates which fall into the intermediate zone will behave in vivo. The breakpoints are set to maximize the predictive value of the test while minimizing errors (ie. it is preferable to call an isolate intermediate, than to incorrectly call it sensitive or resistant ...
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Buy our Recombinant Human HSFY2 protein. Ab165715 is a protein fragment produced in Wheat germ and has been validated in WB, ELISA. Abcam provides free…
P{y[+t7.7]=3wHy} associated with end of Df; Hobo element may be mobilized if crossed to H strain, B.G. Cytological breakpoints estimated from molecular breakpoints, K.C ...
The debug status register shown in Figure 12-1 permits the debugger to determine which debug conditions have occurred. When the processor detects an enabled debug exception, it sets the low-order bits of this register (B0 thru B3) before entering the debug exception handler. Bn is set if the condition described by DRn, LENn, and R/Wn occurs. (Note that the processor sets Bn regardless of whether Gn or Ln is set. If more than one breakpoint condition occurs at one time and if the breakpoint trap occurs due to an enabled condition other than n, Bn may be set, even though neither Gn nor Ln is set.) The BT bit is associated with the T-bit (debug trap bit) of the TSS (refer to 7 for the location of the T-bit). The processor sets the BT bit before entering the debug handler if a task switch has occurred and the T-bit of the new TSS is set. There is no corresponding bit in DR7 that enables and disables this trap; the T-bit of the TSS is the sole enabling bit. The BS bit is associated with the TF (trap ...
Tumors of the hematopoietic and lymphoid tissues or haematopoietic and lymphoid malignancies are tumors that affect the blood, bone marrow, lymph, and lymphatic system. As those elements are all intimately connected through both the circulatory system and the immune system, a disease affecting one will often affect the others as well, making myeloproliferation and lymphoproliferation (and thus the leukemias and the lymphomas) closely related and often overlapping problems. While uncommon in solid tumors, chromosomal translocations are a common cause of these diseases. This commonly leads to a different approach in diagnosis and treatment of haematological malignancies. Haematological malignancies are malignant neoplasms (cancer), and they are generally treated by specialists in hematology and/or oncology. In some centers Haematology/oncology is a single subspecialty of internal medicine while in others they are considered separate divisions (there are also surgical and radiation ...
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Studies support further testing of Bellerophon Therapeutics INOpulse system, delivering nitric oxide to the respiratory system in pulses, for lung disease.
Activists aboard the Greenpeace ship, Arctic Sunrise unfurl a banner reading Dont Wreck The Arctic while a team of activists attach themselves to the anchor chain of the Anna Akhmatova and chain their inflatable to it, preventing the ship from lifting anchor and sailing to the Prirazlomnaya oil platform to complete the work that will allow them to begin drilling in this fragile region.
Structural variants, or SVs, are large DNA sequences that are inserted, inverted, deleted or duplicated within genomes. Finding SVs with short-read seq and analysis methods is difficult, but a new SV identification tool, FusorSV, sets a gold standard for SV detection and analysis.
Andre regimer kan foreslås i udvalgte tilfælde, men dette bør altid aftales med den klinisk mikrobiologiske afdeling efter resistensbestemmelse. * Der anvendes EUCAST-grænseværdier (breakpoints). For de non-hæmolytiske streptokokker anvendes EUCAST pneumokok breakpoints for moxifloxacin og rifampicin. ** Der er ikke defineret noget EUCAST breakpoint for E. faecalis og moxifloxacin. Der anvendes S: MIC ≤ 0.5 mg/l. Det er op til den enkelte klinisk mikrobiologiske afdeling, hvilken metode man anvender til resistensbestemmelse af de enkelte antibiotika. *** Ikke markedsført, men kan med udleveringstilladelse fra Lægemiddelstyrelsen rekvireres fra apotek eller sygehusapotek. ...
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Position effect conferred by the W32 X-chromosome breakpoint. Salkoff also combined voltage-clamp technique with genetic ... Based on these findings Salkoff began a genomic DNA "walk" along the chromosome to clone the Shaker gene in conjunction with ... This study showing the location of the Shaker gene on the physical chromosome map facilitated the cloning of the Shaker ... and position effect mutations where a breakpoint near the gene reduces expression of a normal gene product. All three classes ...
"Entrez Gene: SSX5 synovial sarcoma, X breakpoint 5". CS1 maint: discouraged parameter (link) dos Santos NR, de Bruijn DR, van ... Chromosomes & Cancer. 34 (3): 285-98. doi:10.1002/gcc.10073. PMID 12007189. Güre AO, Wei IJ, Old LJ, Chen YT (October 2002). " ... The product of this gene belongs to the family of highly homologous synovial sarcoma, X (SSX) breakpoint proteins. These ... Kessel AG (January 2001). "Molecular mechanisms underlying human synovial sarcoma development". Genes, Chromosomes & Cancer. 30 ...
Chromosome Xp11 contains a segmental duplication resulting in two identical copies of synovial sarcoma, X breakpoint 4, SSX4 ... This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on ... "Entrez Gene: SSX4 synovial sarcoma, X breakpoint 4". CS1 maint: discouraged parameter (link) dos Santos NR, de Bruijn DR, van ... The product of this gene belongs to the family of highly homologous synovial sarcoma, X (SSX) breakpoint proteins. These ...
"Molecular analysis of acute promyelocytic leukemia breakpoint cluster region on chromosome 17". Science. 249 (4976): 1577-80. ... "High-density genetic map of the BRCA1 region of chromosome 17q12-q21". Genomics. 17 (3): 618-23. doi:10.1006/geno.1993.1381. ...
Chromosome Xp11 contains a segmental duplication resulting in two identical copies of synovial sarcoma, X breakpoint 4, SSX4 ... SSX4, CT5.4, synovial sarcoma, X breakpoint 4, SSX family member 4. External IDs. OMIM: 300326 MGI: 2446771 HomoloGene: 133052 ... This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on ... The product of this gene belongs to the family of highly homologous synovial sarcoma, X (SSX) breakpoint proteins. These ...
The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein ... "Entrez Gene: Breakpoint cluster region". "Entrez Gene: BCR breakpoint cluster region". Zhao X, Ghaffari S, Lodish H, ... A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients ... the gene at the chromosome 9 breakpoint. The BCR-ABL oncoprotein oligomerisation domain found at the N-terminus of BCR is ...
The majority of deletions have breakpoints between 45,405,887 and the tip of the chromosome. There are no common breakpoints, ... which typically have a breakpoint distal to 18q21.1 (45.4 Mb) and extend to the end of the chromosome. If possible, it is ... A routine chromosome analysis, or karyotype, is usually used to make the initial diagnosis, although it may also be made by ... Suspicion of a chromosome abnormality is typically raised due to the presence of developmental delays or birth defects. ...
1984). "Philadelphia chromosomal breakpoints are clustered within a limited region, bcr, on chromosome 22". Cell. 36 (1): 93-9 ...
1984). "Philadelphia chromosomal breakpoints are clustered within a limited region, bcr, on chromosome 22". Cell. 36 (1): 93-9 ... 1987). "The chronic myelocytic cell line K562 contains a breakpoint in bcr and produces a chimeric bcr/c-abl transcript". Mol. ... 1984). "Localization of the c-ab1 oncogene adjacent to a translocation break point in chronic myelocytic leukaemia". Nature. ... Litz CE, McClure JS, Copenhaver CM, Brunning RD (1993). "Duplication of small segments within the major breakpoint cluster ...
"Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8". Human Genetics. 105 (6): 619-28 ... "A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location ...
Neuroblastoma breakpoint family member 19, or NBPF19, is a protein that in humans is encoded by the NBPF19 gene. This protein ... It is located on the positive strand of chromosome 1 at locus 1q21.2. EST profiling of NBPF19 shows it to be ubiquitously ... "neuroblastoma breakpoint family member 19 [Homo sapiens] - Protein - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-05-05. EMBL- ... NBPF19 is one of 26 identified members of the neuroblastoma breakpoint family of proteins in humans. Sequence similarity among ...
This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by expanding ... The product of this gene belongs to the family of highly homologous synovial sarcoma, X (SSX) breakpoint proteins. These ... 2003). "A novel fusion gene, SS18L1/SSX1, in synovial sarcoma". Genes Chromosomes Cancer. 37 (2): 195-200. doi:10.1002/gcc. ... This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on ...
"Chromosome 1, 1p36 deletion syndrome". WrongDiagnosis. Retrieved 2009-05-25. "Chromosome 1p36 deletion syndrome , Genetic and ... 40 percent of all breakpoints occur 3 to 5 million base pairs from the telomere. The size of the deletion ranges from ... CHROMOSOME 1p36 DELETION SYNDROME". www.omim.org. Retrieved 19 September 2018. "Chromosome 1p36 deletion syndrome". Genetics ... Most deletions in chromosome 1p36 are de novo mutations. 20% of patients with 1p36 deletion syndrome inherit the disease from ...
Regardless of the chromosome involved in U-type exchange, the acentric fragment of the chromosome is lost, thus creating a ... Wolff, D. J.; Miller, A. P.; Van Dyke, D. L.; Schwartz, S.; Willard, H. F. (1996). "Molecular definition of breakpoints ... Acrocentric autosomal chromosomes 13, 14, 15, 21, and 22 are also common candidates for isochromosome formation. Chromosomes ... An isochromosome can be abbreviated as i(chromosome number and arm). For example, an isochromosome of chromosome 17 containing ...
... occur at different breakpoints; the chromosomal basis generally consists of a deletion on the short arm of chromosome 5. The ... One of them consists in micro-deletions of the chromosome region 15q11-q13. 70% of patients present a 5-7-Mb de novo deletion ... The mechanism is due to maternal meiotic non-disjunction followed by mitotic loss of the paternal chromosome 15 after ... The third cause for PWS is the disruption of the imprinting process on the paternally inherited chromosome 15 (epigenetic ...
"Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH". ... Genes, Chromosomes & Cancer. 44 (3): 305-19. doi:10.1002/gcc.20243. PMID 16075461. S2CID 39437458. Svensson V, Vento-Tormo R, ...
Crossen PE, Kennedy MA, Heaton DC, Morrison MJ (1993). "Cloning and sequencing of a t(14;19) breakpoint that involves the C mu ... switch region". Genes Chromosomes Cancer. 8 (1): 60-2. doi:10.1002/gcc.2870080110. PMID 7691160. S2CID 85217954. McKeithan TW, ...
"Cloning of the chromosome breakpoint of neoplastic B cells with the t(14;18) chromosome translocation". Science. 226 (4678): ... which places the Bcl-2 gene from chromosome 18 next to the immunoglobulin heavy chain locus on chromosome 14. This fusion gene ... In follicular lymphoma, a chromosomal translocation commonly occurs between the fourteenth and the eighteenth chromosomes - t( ... as it is the second member of a range of proteins initially described in chromosomal translocations involving chromosomes 14 ...
... describes a deletion of the short arm of chromosome 18. About half of the people with deletions have a breakpoint at the ... A routine chromosome analysis, or karyotype, is usually used to make the initial diagnosis, although it may also be made by ... 18p- is a genetic condition caused by a deletion of all or part of the short arm (the p arm) of chromosome 18. It occurs in ... There does not appear to be a specific type of heart defect associated with a deletion of the short arm of chromosome 18. ...
... it was realized that chromosomes that reciprocally translocate to chromosome 8 contained immunoglobulin genes at the break- ... Cloning the break-point of the fusion chromosomes revealed a gene that was similar to myelocytomatosis viral oncogene (v-Myc). ... chromosome organization. • MAPK cascade. • cellular response to DNA damage stimulus. • positive regulation of cysteine-type ... In the human genome, Myc is located on chromosome 8 and is believed to regulate expression of 15% of all genes[8] through ...
Three of the patients reported had a consistent proximal breakpoint on chromosome 2, but varying distal breakpoints. The ... 2p15-16.1 microdeletion is an extremely rare genetic disorder caused by a small deletion in the short arm of human chromosome 2 ...
"Identification of the TCL6 genes within the breakpoint cluster region on chromosome 14q32 in T-cell leukemia". Oncogene. 19 (23 ... It is expressed in T-cell leukemia with a t(14;14)(q11;q32.1) chromosome translocation in humans and in a mouse model. It is ...
Six affected females had selective inactivation of the normal X chromosome, whereas 3 had random X inactivation. Breakpoints ... Xp11.2 duplication is a genomic variation marked by the duplication of an X chromosome region on the short arm p at position ... Most affected females show preferential activation of the duplicated X chromosome. Features of affected individuals vary ... 2009) identified 8 (0.33%) unrelated individuals, 2 males and 6 females, with a microduplication at chromosome Xp11.23-p11.22. ...
An inversion is a chromosome rearrangement in which a segment of a chromosome is reversed end to end. An inversion occurs when ... Pericentric inversions include the centromere and there is a break point in each arm. Cytogenetic techniques may be able to ... His height is caused by an inversion of chromosome 12. Painter TS (1933). "A new method for the study of chromosome ... In insects with polytene chromosomes, for example Drosophila, preparations of larval salivary gland chromosomes allow ...
... tissue-specific ets-related genes on chromosomes X and 14 near translocation breakpoints". Science. 244 (4900): 66-70. doi: ...
Locus-specific probes are made for one side of the breakpoint and the other intact chromosome. In normal cells, the secondary ... The chromosomes can be seen in blue. The chromosome that is labeled with green and red spots (upper left) is the one where the ... Then, an interphase or metaphase chromosome preparation is produced. The chromosomes are firmly attached to a substrate, ... Probes that hybridize along an entire chromosome are used to count the number of a certain chromosome, show translocations, or ...
"Molecular cloning of the chromosomal breakpoint of B-cell lymphomas and leukemias with the t(11;14) chromosome translocation". ... and sequence of a tumor-specific rearrangement breakpoint". Genes, Chromosomes & Cancer. 7 (2): 89-95. doi:10.1002/gcc. ... The human CCND1 gene is located on the long arm of chromosome 11 (band 11q13). It is 13,388 base pairs long, and translates ... Cyclin D1 was originally cloned as a breakpoint rearrangement in parathyroid adenoma and was shown to be required for ...
Bittel DC, Kibiryeva N, Butler MG (2006). "Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral ... 2003). "Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman ...
"Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome". Pediatrics. ... 2005). "Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis". Hum. ... "Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes ...
For example, the t(9;22) BCR-ABL translocation may occur over a large length of the chromosome which makes DNA-based testing ... breakpoints, and detection method validity". Leuk Res. 30 (6): 745-50. doi:10.1016/j.leukres.2005.10.001. PMID 16297448.. ...
Ring chromosome 18 syndrome. Ring 18 is a genetic condition caused by a deletion of the two tips of chromosome 18 followed by ... The features of distal 18q- and 18p- vary greatly because of the variability of the deletion size and breakpoint locations ... A ring-shaped chromosome is the result. In the case of ring 18, one of the two copies of chromosome 18 has formed a ring. ... The phrase "ring 18" refers to the shape that the normally linear chromosome assumes when one tip of the chromosome joins the ...
The gene for G-CSF is located on chromosome 17, locus q11.2-q12. Nagata et al. found that the GCSF gene has 4 introns, and that ... "Chromosomal localization of the human G-CSF gene to 17q11 proximal to the breakpoint of the t(15;17) in acute promyelocytic ... from a glioblastoma multiforme cell line and localization of the G-CSF gene to chromosome band 17q21". Oncogene Research. 1 (3 ... "Human gene coding for granulocyte-colony stimulating factor is assigned to the q21-q22 region of chromosome 17". Somatic Cell ...
In chronic myelogenous leukemia, the Philadelphia chromosome leads to a fusion protein of abl with bcr (breakpoint cluster ... The U.S. Food and Drug Administration (FDA) has approved imatinib as first-line treatment for Philadelphia chromosome-positive ... After the Philadelphia chromosome mutation and hyperactive bcr-abl protein were discovered, the investigators screened chemical ... The drug is approved in multiple contexts of Philadelphia chromosome-positive CML, including after stem cell transplant, in ...
In 2016, two studies further pinpointed the responsible region to chromosome 11 and a 4.5-Mb covering chromosomal rearrangement ... which is located exactly at one of the inversion breakpoints. The inactivation of the gene has severe deleterious effects and ... or non-sex chromosome. That means that both sexes can carry the two different forms of the gene, not just males. The female ... The scientists were able to show that the first genetic change happened 3.8 million years ago on the resident chromosome, when ...
... of chromosome 9 and region (1), band (1), sub-band (2) of the long arm (q) of chromosome 22. Hence the chromosome breakpoints ... This gene is the ABL1 gene of chromosome 9 juxtaposed onto the breakpoint cluster region BCR gene of chromosome 22, coding for ... The Philadelphia chromosome is designated Ph (or Ph') chromosome and designates the shortened chromosome 22 which encodes the ... termed a derivative chromosome, or der 9), and a truncated chromosome 22 (the Philadelphia chromosome, 22q-).[5][6] In ...
Acquired resistance results from a mutation in the bacterial chromosome or the acquisition of extra-chromosomal DNA.[68] ... The FDA antibiotics labeling process, 'Susceptibility Test Interpretive Criteria for Microbial Organisms' or 'breakpoints', ... deterministic and probabilistic approaches in deriving breakpoints". Infection. 37 (4): 296-305. doi:10.1007/s15010-009-7108-9 ... "A long journey from minimum inhibitory concentration testing to clinically predictive breakpoints: ...
... of cases show a reciprocal translocation of chromosome 14 (t(14;14)(q11;q32)). Also, abnormalities of chromosome 8 are seen ... Sorour A, Brito-Babapulle V, Smedley D, Yuille M, Catovsky D (2000). "Unusual breakpoint distribution of 8p abnormalities in T- ... The most frequent chromosomal abnormality is the inversion of chromosome 14, specifically inv 14(q11;q32). This is found in 80 ... Maljaei SH, Brito-Babapulle V, Hiorns LR, Catovsky D (1998). "Abnormalities of chromosomes 8, 11, 14, and X in T-prolymphocytic ...
Future plans are to intensify treatment for those patients with aberration of 1p36 or 11q23 chromosomes as well as for those ... gains and breakpoints". Cytogenetic and Genome Research. 115 (3-4): 273-82. doi:10.1159/000095924. PMID 17124410.. ... Tumors presenting with any kind of segmental chromosome copy number changes were associated with a high risk of relapse. ... Tumors presenting exclusively with whole chromosome copy number changes were associated with excellent survival. ...
NBPF16: Neuroblastoma breakpoint family, member 16. *NOC2L: Nucleolar complex protein 2 homolog ... Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all ... Wikimedia Commons has media related to Human chromosome 1.. *. National Institutes of Health. "Chromosome 1". Genetics Home ... "Chromosome 1: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19.. ...
2001). "Structure of the MLT gene and molecular characterization of the genomic breakpoint junctions in the t(11;18)(q21;q21) ... of marginal zone B-cell lymphomas of MALT type". Genes Chromosomes Cancer 29 (4): 281-91. PMID 11066071. doi:10.1002/1098-2264( ... and hiap-2 to chromosomes Xq25 and 11q22-q23 by fluorescence in situ hybridization". Genomics 37 (3): 404-6. PMID 8938457. doi: ...
CTNS is located on the p arm of human chromosome 17, at position 13.2.[5] It spans base pairs 3,636,468 and 3,661,542, and ... "Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS)". Molecular ... In 1995, the gene was localized to the short arm of chromosome 17.[6] An international collaborative effort finally succeeded ... "Linkage of the gene for cystinosis to markers on the short arm of chromosome 17. The Cystinosis Collaborative Research Group". ...
... as well as reducing locomotor activity and the break point (maximum amount of level presses to obtain cocaine). Local injection ... Genes on human chromosome 1. *G protein-coupled receptors. Hidden categories: *CS1: long volume value ...
This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it.. *v ... Molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene duplication". J. Biol. Chem. 269 (11): ... 2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805-11. doi:10.1038/nature02055. PMID ... This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6 and expresses two transcript ...
... as well as reducing locomotor activity and the break point (maximum amount of level presses to obtain cocaine). Local injection ...
"Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve ... Genes on human chromosome 10. *Transcription factors. Hidden categories: *CS1: long volume value ...
... breakpoint cluster region) gene on chromosome 22. This new fusion gene, BCR-ABL, encodes an unregulated, cytoplasm-targeted ... This gene is a partner in a fusion gene with the BCR gene in the Philadelphia chromosome, a characteristic abnormality in ... located on chromosome 9. c-Abl is sometimes used to refer to the version of the gene found within the mammalian genome, while v ... "Interaction of BCR-ABL with the retinoblastoma protein in Philadelphia chromosome-positive cell lines". Int. J. Hematol. 65 (2 ...
In addition, higher breakpoint densities were consistently observed within GC-skewed regions and in the close vicinity of the ... Medusozoa and calcarea clades however have species with linear mitochondrial chromosomes. In terms of base pairs, the anemone ... Deletion breakpoints frequently occur within or near regions showing non-canonical (non-B) conformations, namely hairpins, ... The genome of the mitochondrion of the cucumber (Cucumis sativus) consists of three circular chromosomes (lengths 1556, 84 and ...
... close to translocation breakpoints in multiple myeloma, and is upregulated in various cancer cell lines". Genomics. 58 (2): 165 ... "The transforming acidic coiled coil 3 protein is essential for spindle-dependent chromosome alignment and mitotic survival". J ...
Earlier studies on chromosome 21 and 22 showed the power of tiling arrays for identifying transcription units. The authors used ... On the other hand, fine-tiled array CGH would produce ultrahigh resolution to find other abnormalities such as breakpoints. ... Finally, arrays usually give only chromosome and position numbers, often necessitating sequencing as a separate step (although ... Chromosome Research. 13 (3): 259-74. doi:10.1007/s10577-005-2165-0. PMID 15868420. S2CID 24058431. Cawley, S; Bekiranov, S; Ng ...
... chromosome 1) to smallest (chromosome 22), with the sex chromosomes (X and Y) shown last. Historically, karyotypes have been ... Kulharya AS, Flannery DB, Norris K, Lovell C, Levy B, Velagaleti G (September 2008). "Fine mapping of breakpoints in two ... These include: A translocation between chromosomes 9 and 22, known as the Philadelphia chromosome, occurs in about 20% of adult ... Gains on chromosomes 6 and 8 are often used to refine the predictive value of the Monosomy 3 screen, with gain of 6p indicating ...
One example of a chimera in normal human cells is generated by trans-splicing of the 5′ exons of the JAZF1 gene on chromosome ... Novo, FJ; de Mendíbil, IO; Vizmanos, JL (Jan 26, 2007). "TICdb: a collection of gene-mapped translocation breakpoints in cancer ... end of the breakpoint cluster region protein (BCR) gene and the 3′ end of the Abelson murine leukemia viral oncogene homolog 1 ... Chromosomes and Cancer. 52 (8): 733-740. doi:10.1002/gcc.22068. PMID 23630070. Koontz, J. I.; Soreng, A. L.; Nucci, M.; Kuo, F ...
... deletion of the short arm of chromosome 7, or partial deletions of chromosome 5. In addition, it has been shown that ... This can lead to aberrant expression of EVI1, and, as shown in the figure below, commonly involved chromosomal breakpoints have ... The EVI1 gene is located in the human genome on chromosome 3 (3q26.2). The gene spans 60 kilobases and encodes 16 exons, 10 of ... Since it was first identified in murine myeloid leukemia as a common site of retroviral integration into the chromosome, EVI1 ...
The human FIP1L1 gene is located on chromosome 4 at position q12 (4q12), contains 19 exons, and codes for a complete protein ... end of PGDFRA at variable breakpoints in both genes extending over a 40 kilobase region in FIP1L1 and a small region of exon 12 ... RARA, the Retinoic acid receptor alpha gene, is located on human chromosome 17 at position q21.2 (i.e. 17q21.2), consists of 17 ... Three case reports have found that chromosome translocations between FIP1L1 and RARA gene loci are associated with two cases of ...
... we propose to investigate the breakpoints themselves in order to refine them. By aligning each breakpoint sequence against its ... thus extending the synteny blocks and narrowing the breakpoints. The identification of the narrowed breakpoints relies on a ... The whole method is applied to locate breakpoints on the human genome when compared to the mouse and dog genomes. Among the 355 ... Furthermore, we suggest that breakpoints are rarely reduced to a point, and instead consist in often large regions that can be ...
To investigate the mechanism responsible for this frequent chromosome rearrangement, we characterized the breakpoints in 18 ... individuals with small inv dup(15) chromosomes [i.e., negative for the Prader-Willi (PWS)/Angelman syn … ... is the most common supernumerary marker chromosome in humans. ... chromosomes may involve one or both of these breakpoint ... Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes Hum Genet. 1997 Jan;99(1):11-7. doi: ...
elk, tissue-specific ets-related genes on chromosomes X and 14 near translocation breakpoints ... elk, tissue-specific ets-related genes on chromosomes X and 14 near translocation breakpoints ... elk, tissue-specific ets-related genes on chromosomes X and 14 near translocation breakpoints ... elk, tissue-specific ets-related genes on chromosomes X and 14 near translocation breakpoints ...
Isolation and analysis of the breakpoint sequences of chromosome inversion In(3L)Payne in Drosophila melanogaster.. C S Wesley ... Isolation and analysis of the breakpoint sequences of chromosome inversion In(3L)Payne in Drosophila melanogaster. ... Isolation and analysis of the breakpoint sequences of chromosome inversion In(3L)Payne in Drosophila melanogaster. ... Isolation and analysis of the breakpoint sequences of chromosome inversion In(3L)Payne in Drosophila melanogaster. ...
We have found that the duplication breakpoints are clustered in two intervals. The more proximal, most common interval is the ... chromosome is dicentric, containing two copies of 22pter--,q11.2. ... Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome ... We have therefore classified CES chromosomes into two types based on the location of the two breakpoints required to generate ...
... Macchia, Gemma; Hansén Nord, Karolin LU ; Zoli, Monica ... We found nine breakpoint cluster regions potentially involved in the genesis of RGM chromosomes,... (More). Gene amplification ... We found nine breakpoint cluster regions potentially involved in the genesis of RGM chromosomes, which turned out to be ... We found nine breakpoint cluster regions potentially involved in the genesis of RGM chromosomes, which turned out to be ...
The FHIT gene, spanning the chromosome 3p14.2 fragile site and renal carcinoma-associated t(3;8) breakpoint, is abnormal in ... A 200-300 kb region of chromosome 3p14.2, including the fragile site locus FRA3B, is homozygously deleted in multiple tumor- ... the remaining exons telomeric to this translocation breakpoint, and exon 5 within the homozygously deleted fragile region. ... untranslated exons centromeric to the renal carcinoma-associated 3p14.2 breakpoint, ...
Genes Chromosomes Cancer. 2000 May;28(1):106-20. Research Support, Non-U.S. Govt; Research Support, U.S. Govt, Non-P.H.S.; ... Genes Chromosomes Cancer. 2000 May;28(1):106-20.. Chromosome abnormalities in ovarian adenocarcinoma: III. Using breakpoint ... the non-random breakpoints in ovarian adenocarcinoma do not occur independently; (2) breakpoints in regions 1p3 and 11p1 are ... All our methods lead to strikingly consistent conclusions about chromosomal breakpoints in ovarian adenocarcinoma, including (1 ...
Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q. ... Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q. ... Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q. ...
Identification and Characterization of Breakpoints and Mutations on Drosophila melanogaster Balancer Chromosomes. View ORCID ... Identification and Characterization of Breakpoints and Mutations on Drosophila melanogaster Balancer Chromosomes. View ORCID ... Identification and Characterization of Breakpoints and Mutations on Drosophila melanogaster Balancer Chromosomes. View ORCID ... Identification and Characterization of Breakpoints and Mutations on Drosophila melanogaster Balancer Chromosomes ...
A Chromosome Breakpoint Mapping Strategy to Identify Candidate Genes for Nonsyndromic X-linked Mental Retardation within Xp11.2 ... A Chromosome Breakpoint Mapping Strategy to Identify Candidate Genes for Nonsyndromic X-linked Mental Retardation within Xp11.2 ... A Chromosome Breakpoint Mapping Strategy to Identify Candidate Genes for Nonsyndromic X-linked Mental Retardation within Xp11.2 ... A Chromosome Breakpoint Mapping Strategy to Identify Candidate Genes for Nonsyndromic X-linked Mental Retardation within Xp11.2 ...
... mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome ... Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced ... Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced ... chromosome rearrangements with intellectual deficiency and/or congenital malformations. Journal of Medical Genetics 2013;50:144 ...
"Breakpoint mapping positions the callipyge gene within a 450-kilobase chromosome segment containing the DLK1 and GTL2 genes, ... Breakpoint mapping positions the callipyge gene within a 450-kilobase chromosome segment containing the DLK1 and GTL2 genes. ... Breakpoint mapping positions the callipyge gene within a 450-kilobase chromosome segment containing the DLK1 and GTL2 genes. ... Breakpoint mapping positions the callipyge gene within a 450-kilobase chromosome segment... Berghmans, Stéphane ; Segers, Karin ...
... but the human PMS2L genes have not been positioned in the context of the physical or genetic map of chromosome 7. In this study ... have been localized to human chromosome 7. Human PMS2 has been mapped previously to 7p22 and shown to be causative in ... be present at at least three sites as part of duplicated genomic segments that flank the most common rearrangement breakpoints ... PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome ...
... we can look for weak similarities inside the breakpoint, thus extending the synteny blocks and narrowing the breakpoints. The ... The whole method is applied to delimit breakpoints on the human genome when compared to the mouse and dog genomes. Among the ... Furthermore, we suggest that breakpoints are rarely reduced to a point, and instead consist in often large regions that can be ... We developed a method to precisely delimit rearrangement breakpoints on a genome by comparison with the genome of a related ...
We previously reported the use of fluorescence in situ hybridization to identify the presence of a chromosome 9q34.3 ... We have now defined a chromosomal breakpoint flanking th~ duplication through pulsed field gel electrophoresis (~FGE) . We have ... We previously reported the use of fluorescence in situ hybridization to identify the presence of a chromosome 9q34.3 ... We have now defined a chromosomal breakpoint flanking th~ duplication through pulsed field gel electrophoresis (~FGE) . We have ...
Using breakpoint data to infer and test mathematical models for oncogenesis. Genes Chromosomes and Cancer, 28(1), 106-120. ... Using breakpoint data to infer and test mathematical models for oncogenesis, Genes Chromosomes and Cancer, vol. 28, no. 1, pp ... Using breakpoint data to infer and test mathematical models for oncogenesis. Genes Chromosomes and Cancer. 2000 May 1;28(1):106 ... Using breakpoint data to infer and test mathematical models for oncogenesis. In: Genes Chromosomes and Cancer. 2000 ; Vol. 28, ...
Identification of Chimeric Chromosome Break Points.. As schematized in Fig. 1, the presence of chimeric chromosomes in an S. ... When the PCR is performed using forward primers from one chromosome and reverse primers from another chromosome, the break ... Two chromosomes sharing an identical repeated sequence are shown. Orange, chromosome A (CHR A); purple, chromosome B (CHR B); ... The break points expected to be present in the chimeric chromosomes were analyzed using a PCR-based approach. Of the seven ...
BCR is well known because it becomes pasted onto Chromosome 9 in the classic leukemia mutation, the Philadelphia Chromosome. ... When Chromosome 9 and 22 switch at this place, BCR becomes fused to the gene ABL, making cells divide uncontrollably. The name ... Day 347 (Ypter-Yp11.2): the Y chromosome, Nettie Stevens, and SRY * Day 346 (19q13.33-19q13.43): the most genes of any day, ... Day 356 (22q11.1-22q11.23): the Philadelphia chromosome breakpoint. http://philadelphiaift.org/. Day 356 has 123 protein-coding ...
Philadelphia chromosome‐negative chronic myelogenous leukemia with rearrangement of the breakpoint cluster region. Long term ... Philadelphia chromosome‐negative chronic myelogenous leukemia with rearrangement of the breakpoint cluster region. Long term ... Philadelphia chromosome‐negative chronic myelogenous leukemia with rearrangement of the breakpoint cluster region. Long term ... T1 - Philadelphia chromosome‐negative chronic myelogenous leukemia with rearrangement of the breakpoint cluster region. Long ...
A highly polymorphic locus cloned from the breakpoint of a chromosome 11p13 deletion associated with the WAGR syndrome. In: ... A highly polymorphic locus cloned from the breakpoint of a chromosome 11p13 deletion associated with the WAGR syndrome. / ... Fingerprint Dive into the research topics of A highly polymorphic locus cloned from the breakpoint of a chromosome 11p13 ... title = "A highly polymorphic locus cloned from the breakpoint of a chromosome 11p13 deletion associated with the WAGR syndrome ...
Chromosome 7 translocation breakpoints in male carriers: clinical features and implications for genetic counseling.. Wang RX1, ... However, the breakpoint at 7p15 was associated with both. Chromosome 7 translocation carriers with pregestational or ... However, clinical characteristics resulting from chromosome 7 translocation breakpoints have not been studied. Here, we report ... A translocation breakpoint can occur within an important gene, interrupting its structure and leading to male infertility. ...
... we examined the telomere sequences in wheat deletion lines with breakpoints on chromosome 1B. Lines that had breakpoints around ... we examined the telomere sequences in wheat deletion lines with breakpoints on chromosome 1B. Lines that had breakpoints around ... we examined the telomere sequences in wheat deletion lines with breakpoints on chromosome 1B. Lines that had breakpoints around ... we examined the telomere sequences in wheat deletion lines with breakpoints on chromosome 1B. Lines that had breakpoints around ...
These data indicate the presence of myeloid- and lymphoid-specific breakpoint cluster regions within chromosome band 13q14 in ... Myeloid- and lymphoid-specific breakpoint cluster regions in chromosome band 13q14 in acute leukemia. 1999, 25 (3):222-9 Genes ... Analysis of balanced rearrangements of chromosome 6 in acute leukemia: clustered breakpoints in q22-q23 and possible ... Myeloid- and lymphoid-specific breakpoint cluster regions in chromosome band 13q14 in acute leukemia.. ...
QTL on chromosomes 1 and 13 in mouse, two QTL on chromosome 3 in maize, and a single QTL on chromosome 3B in wheat. The ... For chromosomes 1 and 5, the LOD of the respective QTL increased, for chromosome 2 the LOD only slightly changed, and for ... LOD curves for chromosomes carrying the significant QTL: a single QTL on chromosome 1 in Arabidopsis (dotted line: analysis ... 2006). A minimum of one obligatory crossover per chromosome, or chromosome arm, occurs during meiosis as a requirement for ...
Sved, J. A., and X. Liang, 2006 Evidence of P-element-induced sister-chromatid exchange in a ring-X chromosome in Drosophila, ... Despite containing no breakpoint at the 5′ end of EP(3)3583, the distal breakpoints in the 204 deficiency were located in the 5 ... To determine the breakpoints for each of the deficiencies at the molecular level, genomic sequences containing the breakpoints ... The 34 deficiency had a breakpoint coincide with one of the insertion sites, while the 235 and 247 deficiencies had breakpoints ...
Non-random distribution of break-points on muntjac chromosomes induced at G2 by in vitro X-ray irradiation. ... Animals , Cell Cycle , Chromosome Aberrations , Chromosome Mapping , Chromosomes/radiation effects , Deer/genetics , X-Rays ... Non-random distribution of break-points on muntjac chromosomes induced at G2 by in vitro X ... Chromosome Mapping / Chromosomes / Animals Language: English Journal: Indian J Exp Biol Year: 1983 Type: Article ...
... partial deletion and generates a ring chromosome. Loss of critical genes on each arm of chromosome 18 may contribute to the ... Detailed breakpoints location and deleted genes identification help to estimate the risk of the disease in the future. The data ... Here we describe a detailed diagnosis of a seven-year-old Chinese girl with a ring chromosome 18 mutation by a high-throughput ... To our knowledge, this is the first report of a ring chromosome 18 patient in China analyzed by whole-genome low-coverage ...
The Philadelphia chromosome is formed by a reciprocal translocation between chromosomes 9 and 22. Potential breakpoints are ...
... with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm ... Specific Breakpoints and a "Critical Region". In individuals with trisomy 9p, all or a portion of the short arm (p) of ... Chromosome 9, tetrasomy 9p is a rare chromosomal disorder in which the short arm of chromosome 9 (9p) is present four times ( ... Chromosome 9, trisomy mosaic is a chromosomal disorder characterized by trisomy of the entire 9th chromosome in some cells of ...
  • Molecular cytogenetic delineation of deletions and translocations involving chromosome band 7q22 in myeloid leukemias. (semanticscholar.org)
  • Rearrangements are large scale modifications of the genome, such as inversions or transpositions of DNA segments, translocations between non homologous chromosomes, fusions or fissions of chromosomes, deletions or duplications of small or large portions. (biomedcentral.com)
  • Previous reports have indicated the involvement of chromosome 7 translocations in male infertility and recurrent miscarriage. (cdc.gov)
  • To begin to define the gene(s) involved on chromosome 13, we have performed fluorescence in situ hybridization (FISH) using a panel of YACs from the region, on a series of 10 cases of acute leukemia with t(12;13)(p12;q14) and 1 case each with "variant" translocations including t(12;13)(q21;q14), t(10;13)(q24;q14) and t(9;13)(p21;q14). (openrepository.com)
  • Variant Philadelphia translocations with different breakpoints in six chronic myeloid leukemia patients / Alti kronik miyeloid losemi olgusunda farkli kirik noktali varyant Philadelphia translokasyonlari. (biomedsearch.com)
  • In variant translocations 3 and possibly more chromosomes are involved. (biomedsearch.com)
  • Forty patients diagnosed with CML, including four with variant Ph chromosome translocations and three with normal karyotypes were analysed for rearrangement within the bcr. (sahmriresearch.org)
  • Analysis for rearrangement within the bcr is useful in the diagnosis of CML, especially when cytogenetic analysis is unsuccessful or in patients with normal karyotypes or variant Ph chromosome translocations. (sahmriresearch.org)
  • Two apparently "de novo" balanced translocations and one duplication of the short arm of chromosome 20 were studied. (usp.br)
  • DGS-related breakpoints can be distinguished from the 22ql 1 breakpoint of CML, but not from the 8:22 translocation of Burkitt lymphoma or from the 21:22 translocations that we have previously studied. (elsevier.com)
  • These abnormalities generally consist of partial or complete chromosome deletion or addition (del5q, -7, +8, -Y, del20 q ), whereas balanced or unbalanced translocations are rarely found in MDS. (springer.com)
  • Translocations were observed in 12 tumors, with six chromosome rearrangements present in at least two different tumors. (aacrjournals.org)
  • On the other hand, translocations involving chromosomes 5, 10, and 13 exhibited repeated breakage at the same loci. (aacrjournals.org)
  • Despite the importance of chromosomal translocations in the initiation and/or progression of cancer, a comprehensive catalog of translocation breakpoints in which these are precisely located on the reference sequence of the human genome is not available at present. (biomedcentral.com)
  • Chromosome translocations are very important in the initiation and/or progression of cancer, and consequently a high number of translocation events have been reported in human tumors. (biomedcentral.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)
  • Robertsonian translocations may involve two chromosomes 13 or chromosome 13 and another acrocentric (14, 15, 21, 22) [ 1 ]. (hindawi.com)
  • Our probes can 1) detect balanced, unbalanced, and Robertsonian translocations, 2) provide high-resolution breakpoint assignment, 3) characterize marker and add chromosomes, and 4) detect balanced and unbalanced sub-telomere rearrangements. (acmgmeeting.net)
  • Translocations are associated with multiple miscarriages, and the offspring of a carrier can inherit an extra chromosome derived from the translocation. (genomenewsnetwork.org)
  • Recently, we identified LMO2 rearrangements in 5 of 26 (19.2%) T-ALL cell lines including two novel cryptic non- TCR chromosome translocations t(3;11)(q25;p13) and t(X;11)(q25;p13), respectively activating LMO2 by juxtaposition with MBNL1 and STAG2 . (haematologica.org)
  • There are more than 200 known chromosome translocations and mutations in leukemic cells of patients diagnosed with AML [ 3 ]. (mdpi.com)
  • The chromosomal regions affected by these rearrangements are called breakpoints, while those which have not been rearranged are called synteny blocks. (biomedcentral.com)
  • Five to 10% of patients with chronic myelogenous leukemia (CML) do not have the Philadelphia chromosome (Ph), but one‐third of them have rearrangements of the breakpoint cluster region (BCR‐positive). (elsevier.com)
  • Analysis of balanced rearrangements of chromosome 6 in acute leukemia: clustered breakpoints in q22-q23 and possible involvement of c-MYB in a new recurrent translocation, t(6;7)(q23;q32 through 36). (openrepository.com)
  • 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. (biomedsearch.com)
  • We have performed in situ hybridization of a probe for the λ IGLC constant region to metaphase spreads from two DiGeorge syndrome (DGS)-relaled chromosomal rearrangements with breakpoints in 22qll. (elsevier.com)
  • As tribal divergence post-dated the origin of four tribe-specific chromosomes, it is proposed that these chromosomal rearrangements were a key evolutionary innovation underlaying the origin and diversification of the Boechereae in North America. (frontiersin.org)
  • These studies will allow us to determine the role of chromosome rearrangements in the formation of new mammal species and how such rearrangements result in adaptive changes that are specific to the different mammalian lineages. (rvc.ac.uk)
  • Our studies can be extended to the early detection of cancer by identifying diagnostic chromosome rearrangements in humans and other animals, and possibly novel targets for personalized therapy. (rvc.ac.uk)
  • The rhesus macaque was one of 19 mammals included in a study reconstructing chromosome rearrangements during 105 million years of mammalian evolution. (rvc.ac.uk)
  • Researchers identified 162 chromosomal breakpoints - locations where a chromosome broke open, allowing for rearrangements - between the eutherian ancestor and the formation of humans as a species. (rvc.ac.uk)
  • Breakpoints are locations where a chromosome broke open, allowing for rearrangements. (rvc.ac.uk)
  • For example, six of the reconstructed eutherian ancestral chromosomes showed no rearrangements for almost 100 million years until the appearance of the common ancestor of human and chimpanzee. (rvc.ac.uk)
  • Modifications include a change in the total number of chromosomes, and changes of chromosomal structures, the deletion or duplication of genes or segments of a chromosome, and rearrangements of the genetic material either within or among chromosomes. (slideserve.com)
  • Chromosome rearrangements can contribute to the transformation of a normal cell into a cancerous cell and are therefore found in many cancer cells. (encyclopedia.com)
  • Chromosome rearrangements that delete or disrupt genes that regulate the cell cycle can contribute to the transformation of a normal cell into a cancerous cell. (encyclopedia.com)
  • Sometimes the process of genome elimination is disrupted, which leads to individuals that have incomplete genomes or chromosomes that carry big rearrangements of the DNA, as if they had been shattered and put back together incorrectly. (elifesciences.org)
  • Previous DNA analyses of this translocation have shown that the breakpoints and rearrangements appear to be quite similar in most cases. (genomenewsnetwork.org)
  • In this study we have compared array-CGH (comparative genomic hybridization) and multipoint FISH (mpFISH) for their ability to characterize complex rearrangements on human chromosome 3 (chr3) in tumour cell lines. (biomedcentral.com)
  • In most cases, the changes in copy number seen on array-CGH profiles reflected cumulative chromosome rearrangements. (biomedcentral.com)
  • In order to interpret ("decode") complex CGH profiles and to describe the underlying chromosome rearrangements, additional information is required. (biomedcentral.com)
  • The elk cDNA probe detects two loci in the human genome, elk-1 and elk-2, which map to chromosome regions Xp11.2 and 14q32.3, respectively. (sciencemag.org)
  • Human chromosome 7 circa 2004: a model for structural and functional studies of the human genome. (semanticscholar.org)
  • We developed a method to precisely delimit rearrangement breakpoints on a genome by comparison with the genome of a related species. (biomedcentral.com)
  • Contrary to current methods which search for synteny blocks and simply return what remains in the genome as breakpoints, we propose to go further and to investigate the breakpoints themselves in order to refine them. (biomedcentral.com)
  • The whole method is applied to delimit breakpoints on the human genome when compared to the mouse and dog genomes. (biomedcentral.com)
  • Here we describe a detailed diagnosis of a seven-year-old Chinese girl with a ring chromosome 18 mutation by a high-throughput whole-genome low-coverage sequencing approach without karyotyping and other cytogenetic analysis. (biomedcentral.com)
  • To our knowledge, this is the first report of a ring chromosome 18 patient in China analyzed by whole-genome low-coverage sequencing approach. (biomedcentral.com)
  • In the current study, we applied whole-genome low-coverage sequencing to characterize the ring chromosome 18 mutation at a molecular level in a Chinese young girl for the first time. (biomedcentral.com)
  • Numerous studies since then have confirmed that 1x=7 is the basic chromosome number of the tribe Triticeae (or the basic Triticeae genome is organized into seven chromosomes). (fao.org)
  • Furthermore, a specific chromosome or part of a chromosome in a basic genome is genetically related to a specific chromosome or a part of it in all other genomes of the Triticeae species. (fao.org)
  • O'Neill, R. 2009-12-22 00:00:00 Multiple Genome Rearrangement (MGR) analysis was used to define the trajectory and pattern of chromosome rearrangement within muroid rodents. (deepdyve.com)
  • Although the precise genomic location of many translocation breakpoints can be inferred from published reports and nucleotide databases, a single repository where breakpoints are mapped onto the reference sequence of the human genome is not available at present. (biomedcentral.com)
  • This gene is the ABL1 gene of chromosome 9 juxtaposed onto the breakpoint cluster region BCR gene of chromosome 22, coding for a hybrid protein: a tyrosine kinase signalling protein that is "always on", causing the cell to divide uncontrollably by interrupting the stability of the genome and impairing various signaling pathways governing the cell cycle. (wikipedia.org)
  • Here we report on comparative genome structure of six genera ( Borodinia , Cusickiella , Phoenicaulis , Polyctenium , Nevada , and Sandbergia ) and three Boechera species as revealed by comparative chromosome painting (CCP). (frontiersin.org)
  • All analyzed taxa shared the same seven-chromosome genome structure. (frontiersin.org)
  • The mitotic checkpoint prevents a eukaryotic cell from commencing to separate its replicated genome into two daughter cells (anaphase) until all of its chromosomes are properly aligned on the metaphase plate, with the two copies of each chromosome attached to opposite poles of the mitotic spindle. (biomedsearch.com)
  • It was the last completed chromosome, sequenced two decades after the beginning of the Human Genome Project . (wikipedia.org)
  • 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 ). (wikipedia.org)
  • Breakpoints in these reads define the cassette insertion site (orange vertical line) in the genome. (plantphysiol.org)
  • Harris Lewin, a lead author of the study and a professor of evolution and ecology at UC Davis, said: "The revolution in DNA sequencing has provided us with enough chromosome-scale genome assemblies to permit the computational reconstruction of the eutherian ancestor, as well as other key ancestors along the lineage leading to modern humans. (rvc.ac.uk)
  • Shattered chromosomes are formed from the genome of the haploid inducer, consistent with genomic catastrophes affecting a single, laggard chromosome compartmentalized within a micronucleus. (elifesciences.org)
  • This tab displays a Circos diagram, a circular plot showing each chromosome of the genome as a segment, with each datatype shown as a separate track on the image. (sanger.ac.uk)
  • Everything about this translocation its spontaneous nature, relative frequency, and similarity of breakpoints led Emanuel to theorize that the human genome contains inherent structural flaws. (genomenewsnetwork.org)
  • The series included MM patients from the Mitelman Database of Chromosome Aberrations in Cancer and from our own laboratory. (lu.se)
  • We downloaded a text file containing all "Molecular Biology Associations" from the Mitelman Database of Chromosome Aberrations in Cancer [ 1 ], version August 2006. (biomedcentral.com)
  • If you choose Structural Aberrations, you must select at least one of the following fields: Breakpoint, Topography, Morphology, or Gene. (nih.gov)
  • Taken together, such changes are called chromosome mutations or chromosome aberrations, to distinguish them from gene mutations. (slideserve.com)
  • Because, according to Mendelian laws, the chromosome is the unit of genetic transmission, chromosome aberrations are passed on to offspring in a predictable manner, resulting in many unique genetic outcomes. (slideserve.com)
  • Chromosome 7 translocation carriers with pregestational or gestational infertility should be counseled on chromosomal breakpoints and the various molecular technologies available for assisted reproduction. (cdc.gov)
  • Philadelphia chromosomal breakpoints are clustered within a. (google.es)
  • Philadelphia chromosomal breakpoints. (google.es)
  • A total of 162 chromosomal breakpoints were identified between the eutherian ancestor and the formation of humans as a species. (rvc.ac.uk)
  • Childhood acute lymphoblastic leukemia with chromosomal breakpoints at 11q23. (semanticscholar.org)
  • Since two proximal breakpoint regions ("hotspots") for PWS/AS deletions have been previously identified with the most proximal 15q markers D15S541/S542 and S543, we hypothesized that formation of the small inv dup(15) chromosomes may involve one or both of these breakpoint hotspots. (nih.gov)
  • These two breakpoint regions appear to be the same as the two proximal breakpoints reported in the common PWS/AS deletions. (nih.gov)
  • The finding of consistent breakpoints in small inv dup(15), like that found in PWS/AS deletions, provides strong evidence for hotspots for chromosome breakage in this region. (nih.gov)
  • The co-localization of the breakpoints of these different syndromes, plus the presence of low-copy repeats adjacent to each interval, suggests the existence of several specific regions of chromosomal instability in 22q11.2 which are involved in the production of both deletions and duplications. (nih.gov)
  • Children with constitutional deletions of chromosome 11p13 suffer from aniridia, genitourinary malformations, and mental retardation and are predisposed to develop bilateral Wilms tumor (the WAGR syndrome). (elsevier.com)
  • Chromosome 15q11-q13 has been proposed to harbor a gene for autism susceptibility because deletions of the region lead to Prader-Willi syndrome and Angelman syndrome, whose phenotypes overlap with autism. (cdc.gov)
  • This method revealed two fragment heterozygous deletions of 18p and 18q, and further localized the detailed breakpoint sites and fusion, as well as the deleted genes. (biomedcentral.com)
  • One breakpoint of the deletions was located precisely at the end of the starting element, i.e ., at the end of the inverted terminal repeats. (genetics.org)
  • It is known that P elements induce male recombination near the starting elements, giving rise to deletions with one breakpoint precisely located at an inverted terminal repeat of the retained starting element. (genetics.org)
  • Database analyses further revealed that deletions generated in P -induced male recombination also contained the other breakpoint in genomic regions that coincided with preferential P -insertion sites. (genetics.org)
  • The results suggest that nonrandom distribution of the deletion breakpoints is characteristic of the mechanism by which P elements induce deletions near the starting elements. (genetics.org)
  • [3] Because ring 18 can involve unique deletions of both the p and q arms of the chromosome there is twice as much reason for the variability between individuals. (wikipedia.org)
  • Because the ring involves deletions of both the long arm (18q-) and the short arm (18p-) of chromosome 18, individuals with ring 18 can have features of both 18p- as well as distal 18q- . (wikipedia.org)
  • Genes detected by 3977 wheat expressed sequence tags were mapped into chromosome bins delineated by breakpoints of 159 overlapping deletions. (usda.gov)
  • The Philadelphia chromosome is formed by a reciprocal translocation between chromosomes 9 and 22. (jci.org)
  • This chromosome is defective and unusually short because of reciprocal translocation , t(9;22)(q34;q11), of genetic material between chromosome 9 and chromosome 22 , and contains a fusion gene called BCR-ABL1 . (wikipedia.org)
  • The chromosomal defect in the Philadelphia chromosome is a reciprocal translocation , in which parts of two chromosomes, 9 and 22, swap places. (wikipedia.org)
  • 2 ] The Ph1 results from a reciprocal translocation between the long arms of chromosomes 9 and 22 and is demonstrable in all hematopoietic precursors. (cancer.gov)
  • YACs 705C2 and 368H3 were found to bridge this gap, and therefore contain the more distal breakpoint region. (nih.gov)
  • Finally, Northern analysis and transcript mapping find that the distal breakpoint has disrupted three transcripts that are normally expressed in the standard arrangement. (pnas.org)
  • The distal breakpoint of Df(2L)Exel7014 is located immediately downstream of the Chd1 3′ untranslated region. (sciencemag.org)
  • The distal breakpoint of the inversion is in the second intron of the Gnb1 gene and the proximal breakpoint lies within the centromere. (jax.org)
  • Philadelphia chromosome‐negative chronic myelogenous leukemia with rearrangement of the breakpoint cluster region. (elsevier.com)
  • It defines a new locus in 11p13-ΔJ, which is close to the Wilms tumor gene and the breakpoint cluster region (TCL2) of the frequent t(11;14)(p13;q11) translocation in acute T-cell leukemia. (elsevier.com)
  • Myeloid- and lymphoid-specific breakpoint cluster regions in chromosome band 13q14 in acute leukemia. (openrepository.com)
  • The translocation leads to fusion of the proto-oncogene Abelson (ABL) and a particular DNA sequence known as breakpoint cluster region (BCR), thereby giving rise to 2 new chimeric genes 5' ABL-3' BCR on the derivative chromosome 9 and 5' BCR-3' ABL on the derivative chromosome 22. (biomedsearch.com)
  • Molecular analysis has shown that the Ph chromosome translocation breakpoints are clustered within 5.8kb on chromosome 22 (breakpoint cluster region or bcr). (sahmriresearch.org)
  • In this study we have demonstrated that the breakpoints are proximal to the λ IGLC constant region cluster. (elsevier.com)
  • The result is that a fusion gene is created by juxtaposing the ABL1 gene on chromosome 9 (region q34) to a part of the BCR (breakpoint cluster region) gene on chromosome 22 (region q11). (wikipedia.org)
  • The symbol BCR is derived from breakpoint cluster region, a gene which encodes a protein that acts as a guanine nucleotide exchange factor for Rho GTPase proteins. (wikipedia.org)
  • 3 ] This translocation results in the transfer of the ABL oncogene on chromosome 9 to an area of chromosome 22 termed the breakpoint cluster region (within the BCR gene). (cancer.gov)
  • With the aid of a method for rapid recovery of DNA clones spanning rearrangement breakpoints, we recover and examine the DNA sequences spanning the breakpoints of the cosmopolitan inversion In(3L)Payne in Drosophila melanogaster. (pnas.org)
  • PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7. (semanticscholar.org)
  • Nathan investigated if rearrangement breakpoints were enriched at LINE and SINE elements within diverse tumors. (broadinstitute.org)
  • Human PMS2 has been mapped previously to 7p22 and shown to be causative in hereditary nonpolyposis colon cancer (HNPCC), but the human PMS2L genes have not been positioned in the context of the physical or genetic map of chromosome 7. (semanticscholar.org)
  • Genes Chromosomes and Cancer , 28 (1), 106-120. (elsevier.com)
  • Allele loss involving chromosome arm 3p is one of the most frequent and earliest known genetic events in lung cancer pathogenesis and may affect several potential tumor suppressor gene regions. (aacrjournals.org)
  • To further study the role of chromosome 3p allele loss in the pathogenesis of lung cancer, we performed high resolution loss of heterozygosity (LOH) studies on 97 lung cancer and 54 preneoplastic/preinvasive microdissected respiratory epithelial samples using a panel of 28 3p markers. (aacrjournals.org)
  • The Philadelphia chromosome or Philadelphia translocation ( Ph ) is a specific genetic abnormality in chromosome 22 of leukemia cancer cells (particularly chronic myeloid leukemia (CML) cells). (wikipedia.org)
  • In 1960, when Nowell and Hungerford discovered the Philadelphia chromosome in CML cells, it was the first specific chromosomal abnormality implicated in human cancer. (cap.org)
  • By gaining a better understanding of the relationship between evolutionary breakpoints and cancer breakpoints, the essential molecular features of chromosomes that lead to their instability can be revealed. (rvc.ac.uk)
  • We have previously arrayed 21 cosmid and five P1 phage clones along with the short arm of chromosome 1 from the telomere to the centromere direction by pair-wise comparison experiment using multi-color FISH technique. (nii.ac.jp)
  • For example, the short arm of chromosome 9 includes bands 9p11 to 9p24, and the long arm includes bands 9q11 to 9q34. (rarediseases.org)
  • [4] This is due to the deletion of the TGIF gene on the short arm of chromosome 18 in some people with ring 18. (wikipedia.org)
  • Patient 1 carried a duplication of the short arm of chromosome 20 (p11.22p13), inherited from the mother that showed normal and dup(20) lymphocytes. (usp.br)
  • As a result, each cell has four copies of the short arm of chromosome 18. (medlineplus.gov)
  • The century has ended with the production of powerful deletion stocks (Endo and Gill, 1996) that were used to develop cytologically based physical maps of molecular markers for the 21 chromosomes of wheat (Gill et al . (fao.org)
  • They exist for all three major chromosomes, yet the molecular location of the breakpoints and the exact nature of many of the mutations carried by the second and third chromosome balancers has not been available. (g3journal.org)
  • BCR is well known because it becomes pasted onto Chromosome 9 in the classic leukemia mutation, the Philadelphia Chromosome . (genomeyear.net)
  • 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). (biomedsearch.com)
  • The Philadelphia (Ph) chromosome, which is the result of t(9;22)(q34;q11), is observed in ~90% of CML patients. (biomedsearch.com)
  • Chronic myeloid leukemia (CML) is characterised by the presence of a Philadelphia (Ph) chromosome in approximately 95% of patients. (sahmriresearch.org)
  • [3] ) However, the presence of the Philadelphia (Ph) chromosome is not sufficiently specific to diagnose CML, since it is also found in acute lymphoblastic leukemia [4] (aka ALL, 25-30% of adult cases and 2-10% of pediatric cases) and occasionally in acute myelogenous leukemia (AML) as well as mixed-phenotype acute leukemia (MPAL). (wikipedia.org)
  • Translocation of c-abl oncogene correlates with the presence of a Philadelphia chromosome in chronic myelocytic leukaemia. (google.es)
  • And FISH can see additional abnormal duplications of the Philadelphia chromosome and trisomy 8, which have prognostic significance. (cap.org)
  • CML is a clonal disorder that is usually easily diagnosed because the leukemic cells of more than 95% of patients have a distinctive cytogenetic abnormality, the Philadelphia chromosome (Ph1). (cancer.gov)
  • Characteristics and outcome of patients with Philadelphia chromosome negative, bcr/abl negative chronic myelogenous leukemia. (cancer.gov)
  • [2] (Some cases are confounded by either a cryptic translocation that is invisible on G-banded chromosome preparations, or a variant translocation involving another chromosome or chromosomes as well as the long arm of chromosomes 9 and 22. (wikipedia.org)
  • An unaffected parent can carry a balanced translocation between chromosome 13 and another chromosome. (hindawi.com)
  • Partial trisomy 18 occurs when part of the q arm of chromosome 18 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in embryonic development. (medlineplus.gov)
  • Affected individuals have two copies of chromosome 18, plus the extra material from chromosome 18 attached to another chromosome. (medlineplus.gov)
  • When a piece of one chromosome is exchanged with a piece from another chromosome it is called a translocation. (encyclopedia.com)
  • Chromosome abnormalities in ovarian adenocarcinoma: III. (nih.gov)
  • Fingerprint Dive into the research topics of 'Chromosome abnormalities in ovarian adenocarcinoma: III. (elsevier.com)
  • Abnormalities of chromosome band 13q14 occur in hematologic malignancies of all lineages and at all stages of differentiation. (openrepository.com)
  • Heim S, Mitelman F. Chromosome abnormalities in the myelodys-plastic syndromes. (springer.com)
  • Combined spectral kary-otyping and DAPI banding analysis of chromosome abnormalities in myelodysplastic syndrome. (springer.com)
  • Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q. (bmj.com)
  • As a result, all of the five cell lines had different breakpoints. (nii.ac.jp)
  • Rarely, trisomy 18 is caused by an extra copy of only a piece of chromosome 18. (medlineplus.gov)
  • If the break or breaks result in the loss of a piece of chromosome, it is called a deletion. (encyclopedia.com)
  • In a clean geographic swap known as balanced translocation, a small piece of chromosome 11 switches places with a small piece of chromosome 22. (genomenewsnetwork.org)
  • By examining the sequence diversity associated with six standard and seven inverted chromosomes from natural populations, we find that the inversion is monophyletic in origin, the sequences are genetically isolated from recombination at the breakpoints, and there is no association with features such as transposable elements. (pnas.org)
  • Alternatively, the repetitive nature of the sequences lends to the structural variations observed within the inv(9) chromosomes (or any other abnormal chromosome that is the result of recombination between, or breakage within, repetitive DNA). (elsevier.com)
  • Despite utilizing different sex chromosomes, the differentiation of male- or female-specific Y and W chromosomes due to lack of recombination is a common theme in sex chromosomes evolution, and leads to similar patterns of sequence differentiation on X/Y or Z/W chromosomes (Charlesworth et al. (springer.com)
  • The generally accepted model of sex chromosome evolution is that accumulation of sexually antagonist genes in proximity of a sex-determining locus provides a selective advantage for lack of recombination between sex chromosomes (Charlesworth 1991 ). (springer.com)
  • While the X and Z chromosomes will undergo recombination in the homogametic sex, the Y and W chromosomes will accumulate mutations. (springer.com)
  • Breakpoint sequencing revealed clustering in regions of high sequence identity enriched in PRDM9-mediated recombination hotspot motifs. (nih.gov)
  • Loci derived by duplication were most frequently located in distal, high-recombination chromosome regions whereas ancestral loci were most frequently located proximal to them. (usda.gov)
  • It is suggested that recombination has played a central role in the evolution of wheat transcriptome structure and that gradients of recombination rates along chromosome arms promote more rapid rates of transcriptome evolution in distal, high-recombination regions than in proximal, low-recombination regions. (usda.gov)
  • Trisomy 9p is a rare chromosomal syndrome in which a portion of the 9th chromosome appears three times (trisomy) rather than twice in cells of the body. (rarediseases.org)
  • In trisomy 9p, the trisomy (or duplicated material) may involve a portion of the short arm (9p), the entire short arm, or the short arm and a portion of the long arm (9q) of chromosome 9. (rarediseases.org)
  • The specific symptoms of trisomy 9p can vary greatly from one person to another due, in part, to the specific length of the duplicated material on chromosome 9p. (rarediseases.org)
  • Trisomy 9p is often characterized by low muscle tone (hypotonia) as well as growth deficiency and delayed bone maturation, which means that the rate of growth and development of the bones is slower than in individuals with 46 chromosomes. (rarediseases.org)
  • gains of entire chromosomes, such as trisomy 12, are less frequent. (hindawi.com)
  • This is the first reported case of a partial trisomy 13q associated with chromosome 8 with unique clinical presentations. (hindawi.com)
  • In mosaic trisomy 13, part of cells contains 3 copies of chromosome 13 and the other part contains 2 copies of chromosome 13 [ 2 ]. (hindawi.com)
  • Trisomy 18 occurs when each cell in the body has three copies of chromosome 18 instead of the usual two copies, causing severe intellectual disability and multiple birth defects that are usually fatal by early childhood. (medlineplus.gov)
  • Researchers believe that extra copies of some genes on chromosome 18 disrupt the course of normal development, causing the characteristic features of trisomy 18 and the health problems associated with this disorder. (medlineplus.gov)
  • Chromosome 15, Distal Trisomy 15q is an extremely rare chromosomal disorder in which the end (distal) portion of the long arm (q) of the 15th chromosome (15q) appears three times (trisomy) rather than twice in cells of the body. (rarediseases.org)
  • In most cases, Chromosome 15, Distal Trisomy 15q is due to a chromosomal balanced translocation in one of the parents. (rarediseases.org)
  • In individuals with Chromosome 15, Distal Trisomy 15q, an extremely rare chromosomal disorder, the end (distal) portion of the long arm (q) of chromosome 15 (15q) is duplicated (trisomic). (rarediseases.org)
  • Most infants with Chromosome 15, Distal Trisomy 15q also exhibit abnormally diminished muscle tone (hypotonia). (rarediseases.org)
  • The breakpoint extends the genetic map of this region and provides a useful marker for linkage studies and the analysis of allelic segregation in tumor cells. (elsevier.com)
  • Chromosome 7 translocation breakpoints in male carriers: clinical features and implications for genetic counseling. (cdc.gov)
  • Here, we report such breakpoints and their associated clinical features, to enable informed genetic counseling of carriers. (cdc.gov)
  • No study, however, has investigated the genetic association between the breakpoints and autism, to our knowledge. (cdc.gov)
  • Ring 18 is a genetic condition caused by a deletion of the two tips of chromosome 18 followed by the formation of a ring-shaped chromosome. (wikipedia.org)
  • We also identify evidence of single and double crossovers between several TM3 and TM6B balancers and their normal-sequence homologs that have created genetic diversity among these chromosomes. (g3journal.org)
  • Identifying genes on each chromosome is an active area of genetic research. (medlineplus.gov)
  • 1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. (medlineplus.gov)
  • A 1q21.1 microduplication is a copied (duplicated) segment of genetic material at position q21.1 on one of the two copies of chromosome 1 in each cell. (medlineplus.gov)
  • Salkoff also combined voltage-clamp technique with genetic analysis to reveal the location of the Shaker gene on the Drosophilia polytene chromosome map. (wikipedia.org)
  • These structures represent chromosomes that are missing the genetic material beyond that centromere. (slideserve.com)
  • isochromosome which is a chromosome that contains the same genetic material on both arms. (slideserve.com)
  • then they went back to the DNA of patients that had a combination of genetic material from both chromosomes and compared it with DNA from chromosome 11 alone. (genomenewsnetwork.org)
  • This paper describes relationships between wheat chromosome structure and the exchange of genetic information through recombining gene and chromosome segments and the distribution and fate of duplicated genes. (usda.gov)
  • In ten cases, the inv dup(15) was negative for S542 (Class I), indicating the breakpoint is between the centromere and the most proximal marker on chromosome 15. (nih.gov)
  • Each chromosome has a short arm designated as "p," a long arm identified by the letter "q," and a narrowed region at which the two arms are joined (centromere). (rarediseases.org)
  • Chromosomes are further subdivided into bands that are numbered outward from the centromere. (rarediseases.org)
  • MGR was applied using 107 chromosome homologies between Mus, Rattus, Peromyscus, the muroid sister taxon Cricetulus griseus, and Sciurus carolinensis as a non-Muroidea outgroup, with specific attention paid to breakpoint reuse and centromere evolution. (deepdyve.com)
  • telocentrics which are chromosomes that have a terminal centromere. (slideserve.com)
  • Rd4 has not recombined with the inversion in an outcross, suggesting that the Rd4 locus is located very close to or is disrupted by one of the breakpoints of the inversion, either near the centromere or near the telomere. (jax.org)
  • article{ffe9e1ae-909d-427e-8e29-66e3cbc0e09f, abstract = {The cytogenetic features (ploidy, complexity, breakpoints, imbalances) were ascertained in 783 abnormal multiple myeloma (MM) cases to identify frequently involved chromosomal regions as well as a possible impact of age/sex. (lu.se)
  • abstract = "When chromosomes are broken, the breakpoints become highly unstable and acquire the ability to fuse with other broken ends. (elsevier.com)
  • These loci are near the translocation breakpoint seen in the t(X;18) (p11.2;q11.2), which is characteristic of synovial sarcoma, and the chromosome 14q32 breakpoints seen in ataxia telangiectasia and other T cell malignancies. (sciencemag.org)
  • To address these questions, 42 sarcomas with RGM chromosomes were investigated to detect regions prone to double strand breaks and possible functional or structural constraints driving the amplification process. (lu.se)
  • Thus, mutations of a structural gene should produce loss of function mutations where the gene product is absent or non-functional, gain of function mutations where the functional properties of the gene product is changed, and position effect mutations where a breakpoint near the gene reduces expression of a normal gene product. (wikipedia.org)
  • A chromosome rearrangement is a structural change in a chromosome such as a deletion, translocation, inversion, or gene amplification. (encyclopedia.com)
  • The cytogenetic features (ploidy, complexity, breakpoints, imbalances) were ascertained in 783 abnormal multiple myeloma (MM) cases to identify frequently involved chromosomal regions as well as a possible impact of age/sex. (lu.se)
  • Sears and Sears, 1978) began studies with wheat aneuploids that ushered in the era of formal cytogenetic analysis and gene mapping of individual chromosomes and arms in wheat (a catalogue of mapped genes is published each year, see McIntosh et al . (fao.org)
  • The whole cytogenetic enterprise rests on the recognition of homoeology and gene content of individual chromosomes in different genomes of the Triticeae species. (fao.org)
  • 1 , 2 The cytogenetic hallmark of CML is the Ph chromosome, created by t(9;22)(q34;q11), 3 where the amino-terminal BCR gene on chromosome 22 is fused to most of the ABL proto-oncogene on chromosome 9, thereby creating an 8.5-kb BCR/ABL chimeric mRNA encoding a 210-kDa hybrid protein (p210BCR/ABL). (bloodjournal.org)
  • Ring chromosome 18 [r(18)] is formed from breakage of both ends of the chromosome and the break ends generate a ring chromosome [ 1 ]. (biomedcentral.com)
  • Our data demonstrate a high level of reuse of breakpoints among muroid rodents, further supporting the "Fragile Breakage Model" of chromosome evolution. (deepdyve.com)
  • Fragile Breakage Model' ' of chromosome evolution. (deepdyve.com)
  • In the other individuals with Gillespie syndrome no mutations were identified in either of these genes, or in HCCS which lies close to the Xp breakpoint. (plos.org)
  • Inv dup(15) is the most common supernumerary marker chromosome in humans. (nih.gov)
  • Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)
  • Humans have two copies of chromosome 1, as they do with all of the autosomes , which are the non- sex chromosomes . (wikipedia.org)
  • One discovery is that the first eutherian ancestor likely had 42 chromosomes, four less than humans. (rvc.ac.uk)
  • Suspicion of a chromosome abnormality is typically raised due to the presence of developmental delays or birth defects . (wikipedia.org)
  • 6 ⇓ - 8 In 1994, 2 independent groups cloned the genes involved in this translocation and illustrated the fusion of the nucleophosmin ( NPM ) gene on chromosome 5q35 to the previously unidentified gene anaplastic lymphoma kinase ( ALK ) gene on 2p23. (bloodjournal.org)
  • What are the levels of packing present in chromosome? (brainscape.com)
  • We previously reported the use of fluorescence in situ hybridization to identify the presence of a chromosome 9q34.3 duplication in a sporadic case of TSC. (escholarship.org)
  • Our aim was to determine the breakpoints by chromosomal analysis through fluorescent in situ hybridization (FISH) and identify candidate genes and how they were involved with the clinical phenotypes of the patients. (usp.br)
  • In situ hybridization and translocation breakpoint mapping: III. (elsevier.com)
  • We offer multi-color metaphase and interphase chromosome profiling, including our InstaFISH with 15-minute hybridization . (acmgmeeting.net)
  • Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. (rarediseases.org)
  • Human chromosome 1 pair after G-banding . (wikipedia.org)
  • Chromosome 1 pair in human male karyogram . (wikipedia.org)
  • In addition to these conditions, more than one pair of homologous chromosomes may be involved. (slideserve.com)
  • a double tetrasomic contains an extra pair of two pairs of homologous chromosomes (2N+2+2). (slideserve.com)
  • The final pair of chromosomes, called the sex chromosomes, determine the sex of the individual. (encyclopedia.com)
  • Each copy number change on the array profile could be related to a specific chromosome aberration detected by metaphase mpFISH. (biomedcentral.com)
  • This suggests an interchromosomal translocation between chromosomes 2 and 16 resulting in a loss of the genomic material between the translocation breakpoints. (plos.org)
  • 1993). These genetically related chromosomes in different genomes are called homoeologous as compared to essentially genetically identical homologous pairs of chromosomes in diploid species. (fao.org)
  • To recreate the chromosomes of these ancient relatives, the team began with the sequenced genomes of 19 existing placental mammals - all eutherian descendants - including human, goat, dog, orangutan, cattle, mouse and chimpanzee. (rvc.ac.uk)
  • The researchers then used a new algorithm they developed called DESCHRAMBLER which computed ("descrambled") the most likely order and orientation of 2,404 chromosome fragments that were common among the 19 placental mammals' genomes. (rvc.ac.uk)
  • Specifically, he used a computational method to examine these breakpoints in 2,854 tumor genomes. (broadinstitute.org)
  • To investigate the mechanism responsible for this frequent chromosome rearrangement, we characterized the breakpoints in 18 individuals with small inv dup(15) chromosomes [i.e., negative for the Prader-Willi (PWS)/Angelman syndrome (AS) critical region]. (nih.gov)
  • In addition, our results show that two extra copies (tetrasomy) of the region from 15cen to the euchromatic region containing S542 are present in individuals with Class II breakpoints. (nih.gov)
  • Since most individuals carrying a small inv dup(15) are phenotypically normal, the euchromatin region included in the small inv dup(15) chromosomes does not appear to contain genes with clinically significant dosage effects. (nih.gov)
  • The inverted sequences show 17-fold less nucleotide polymorphism, but there are eight fixed differences in the region spanning both breakpoints. (pnas.org)
  • The more proximal, most common interval is the 450-650 kb region between D22S427 and D22S36, which corresponds to the proximal deletion breakpoint interval found in the 22q11 deletion syndrome (DiGeorge/velocardiofacial syndrome). (nih.gov)
  • A 200-300 kb region of chromosome 3p14.2, including the fragile site locus FRA3B, is homozygously deleted in multiple tumor-derived cell lines. (nih.gov)
  • The FHIT locus is composed of ten exons distributed over at least 500 kb, with three 5' untranslated exons centromeric to the renal carcinoma-associated 3p14.2 breakpoint, the remaining exons telomeric to this translocation breakpoint, and exon 5 within the homozygously deleted fragile region. (nih.gov)
  • In reference to this physical map covering 1p36 region, we assessed the breakpoints in three of in vitro established cell lines and two of in vivo cell lines maintained in SCID mice. (nii.ac.jp)
  • The breakpoint of HMS, an in vivo cell line maintained in SCID mice, was mapped between markers SHGC-110595 and D1S1615 spanning about 260-kb long within the 1p36 region. (nii.ac.jp)
  • Day 356 has 123 protein-coding genes ( browser view ) including BCR (breakpoint control region). (genomeyear.net)
  • Lines that had breakpoints around the nucleolar organizer region were first selected on the basis of cytological observations, and the precise breakpoints were determined by mapping a fragment of rDNA and RFLP markers. (elsevier.com)
  • The SNPs are located in two additional distal breakpoints (BP4 and BP5), involved in duplications and triplications of the region, as well as in BP1 and BP3. (cdc.gov)
  • Human chromosome 9 with a pericentric inversion involving the qh region is considered normal. (elsevier.com)
  • Local insertions nearby a starting element in the polytene chromosome region of 67B2-3 were exclusively located in 5′-promoter regions of a selective set of genes. (genetics.org)
  • The 600-kb 3p21.3 region and the 3p14.2 ( FHIT/FRA3B ) and 3p12 (U2020/ DUTT1 ) regions were common, independent sites of breakpoints (retention of heterozygosity by some markers and LOH by other markers in the immediate region). (aacrjournals.org)
  • and appears to have allele loss and breakpoints first occurring in the 600-kb 3p21.3 region. (aacrjournals.org)
  • The deletion that causes distal 18q deletion syndrome can occur anywhere between a region called 18q21 and the end of the chromosome. (medlineplus.gov)
  • In other cases, individuals have a shorter or longer duplicated segment within the q21.1 region of chromosome 1. (medlineplus.gov)
  • Researchers have identified several possible tumor suppressor genes in the deleted region of chromosome 1, and more research is needed to understand what role these genes play in neuroblastoma development. (medlineplus.gov)
  • A deletion in the 1q21.1 region of chromosome 1 is involved in most cases of thrombocytopenia-absent radius (TAR) syndrome. (medlineplus.gov)
  • of the dhfr gene produce a homogeneously staining region (HSR) in the chromosome. (powershow.com)
  • The breakpoint on chromosome 22, it turns out, lies within one of the "gaps": a region of chromosomal DNA that is extremely difficult to sequence. (genomenewsnetwork.org)
  • This is based on the use of chromosome region specific fluorescent-labelled DNA probes. (biomedcentral.com)
  • A novel method is provided for identification of WBS patients or carriers by detection of an inversion in the WBS region of chromosome 7. (freepatentsonline.com)
  • and conducting an assay on the sample to determine the presence or absence of at least one inversion in the WBS region of chromosome 7, the presence of at least one inversion being indicative that the subject displaying symptoms suffers from WBS or that the asymptomatic subject is a carrier of WBS. (freepatentsonline.com)
  • 4. The method of claim 1 wherein two inversions are detected in the WBS region of chromosome 7. (freepatentsonline.com)
  • Twenty-one (5.7%) of 368 cases of acute lymphoblastic leukemia (ALL), studied fully for karyotype and immunophenotype, had breakpoints in the q23 region of chromosome 11. (semanticscholar.org)
  • This property makes ΔJ one of the most polymorphic loci on chromosome 11 and may reflect an underlying instability that contributed to the original mutation. (elsevier.com)
  • this instability could be the origin of a gene swap between two chromosomes that has occurred in hundreds of unrelated families. (genomenewsnetwork.org)
  • The presence of repetitive sequences within DNA may enhance chromosome instability. (broadinstitute.org)
  • Isolation and analysis of the breakpoint sequences of chromosome inversion In(3L)Payne in Drosophila melanogaster. (pnas.org)
  • Ramesh, KH & Verma, RS 1996, ' Breakpoints in α, β, and satellite III DNA sequences of chromosome 9 result in a variety of pericentric inversions ', Journal of medical genetics , vol. 33, no. 5, pp. 395-398. (elsevier.com)
  • We find that one of the inversion breakpoints on TM3 bisects the highly conserved tumor suppressor gene p53 -a finding that may have important consequences for a wide range of studies in Drosophila . (g3journal.org)
  • A variety of balancers are available for the X, second, and third chromosomes in Drosophila , and they have become increasingly effective as the number of inversions has increased and as visible markers and recessive lethal or sterile alleles have been added. (g3journal.org)
  • Determine any correlation between immunologic function in these patients and chromosome 22 deletion breakpoints. (clinicaltrials.gov)
  • Incidentally, the method introduced here can be used to isolate breakpoint sequences of arrangements associated with many human diseases. (pnas.org)
  • The human PMS2 mismatch repair gene and a family of at least 17 other related genes (named human PMSR or PMS2L genes) have been localized to human chromosome 7. (semanticscholar.org)
  • Among the 355 human-mouse and 240 human-dog breakpoints, 168 and 146 respectively span less than 50 Kb. (biomedcentral.com)
  • In yesterday's Sciencexpress, researchers described the most complete annotation of human chromosome 7 to date. (schizophreniaforum.org)
  • We have created a database that describes the genomic location of 1,225 translocation breakpoints in human tumors, corresponding to 247 different genes, using information from publicly available sources. (biomedcentral.com)
  • It should facilitate the analysis of sequences encompassing translocation breakpoints and the identification of factors driving translocation events in human tumors. (biomedcentral.com)
  • deep sequencing of all human X-chromosome specific exons. (mpg.de)
  • Chromosome 1 is the designation for the largest human chromosome . (wikipedia.org)
  • The following are some of the gene count estimates of human chromosome 1. (wikipedia.org)
  • The following is a partial list of genes on human chromosome 1. (wikipedia.org)
  • Chromosome 1 is the largest human chromosome, spanning about 249 million DNA building blocks (base pairs) and representing approximately 8 percent of the total DNA in cells. (medlineplus.gov)
  • How many pairs of chromosomes are present in a human cell? (brainscape.com)
  • Image of human chromosomes showing balanced translocation. (genomenewsnetwork.org)
  • Roe's lab was part of the international collaboration that sequenced human chromosome 22 and published the result in December. (genomenewsnetwork.org)
  • A human homolog would be expected to be located on human chromosomes 1p or 8q. (jax.org)
  • If individuals have an entire extra copy of chromosome 22 (that is not a ring) they generally die before birth or soon after. (wikibooks.org)
  • 11" is normal copy of chromosome 11 (red marker) and "22" is normal copy of chromosome 22 (green marker). (genomenewsnetwork.org)
  • however, when the last chromosome comes into alignment on the metaphase plate, the mitotic checkpoint is quickly satisfied, and the replicated chromosomes are rapidly partitioned to opposite poles of the dividing cell. (biomedsearch.com)
  • The mitotic checkpoint is also curious in the sense that, before metaphase alignment, chromosomes that are not being pulled in opposite directions by the mitotic spindle activate the checkpoint, but during anaphase, these same tensionless chromosomes can no longer activate the checkpoint. (biomedsearch.com)
  • The presence of cells in the hypomorphic mutant in which the chromosomes can be arranged, either in a circular metaphase or an anaphase-like configuration on monopolar spindles, suggests that polyploidy arises through spindle and chromosome segregation defects rather than defects in cytokinesis. (rupress.org)
  • Population geneticists have long recognized that the sequence features associated with inversion breakpoints would reveal much about the mutational origin, uniqueness, and genealogical history of individual inversion polymorphisms, but the cloning of breakpoint sequences is not trivial. (pnas.org)
  • Overall, this work demonstrates the practical importance of precisely identifying the position of inversion breakpoints of balancer chromosomes and characterizing the mutant alleles carried by them. (g3journal.org)
  • We have found that the duplication breakpoints are clustered in two intervals. (nih.gov)
  • The more distal duplication breakpoint interval falls between CRKL and D22S112, which overlaps with the common distal deletion interval of the 22q11 deletion syndrome. (nih.gov)
  • Since the phenotype associated with the larger duplication does not appear to be more severe than that of the smaller duplication, determination of the type of CES chromosome does not currently have prognostic value. (nih.gov)
  • This can occur via mutation in the non-recombining part and the frequent duplication events that often result in multiple copies of genes on Y chromosomes (Wilson and Makova 2009 ). (springer.com)
  • Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity. (biodiscovery.com)
  • It was found the the fastest changing portions of the wheat chromosomes are the distal ends of the chromosomes - regions where gene duplication and DNA exchange between chromosomes is occurring the most rapidly. (usda.gov)
  • Balancer chromosomes are multiply inverted chromosomes that suppress meiotic crossing over and prevent the recovery of crossover products. (g3journal.org)
  • On the other hand, we have established two independent cell lines from patients of primary effusion lymphomas(PELs) both of which contained marker chromosomes consisted with an insertional chromosome fragment derived from chromosome 1. (nii.ac.jp)
  • All tumor lines exhibited aneuploidy and marker chromosomes. (aacrjournals.org)
  • A translocation breakpoint can occur within an important gene, interrupting its structure and leading to male infertility. (cdc.gov)
  • However, factors that control whether just this one or multiple crossovers occur per chromosome are poorly understood. (genetics.org)
  • Sometimes a spontaneous break or breaks occur in a chromosome or chromosomes in a particular cell and can result in a deletion, inversion, or translocation. (encyclopedia.com)
  • At all of the four breakpoints investigated, the newly synthesized telomere sequences contained considerable numbers of atypical telomere sequence units, particularly TTAGGG, which is the common unit of mammalian telomere sequences. (elsevier.com)
  • The basal lineage of monotremes features an extraordinarily complex sex chromosome system which has provided novel insights into the evolution of mammalian sex chromosomes. (springer.com)
  • We localized the genomic breakpoints as well as identified the deleted genes. (biomedcentral.com)
  • This analysis identified several conserved evolutionary breakpoints that have been reused multiple times during karyotypic evolution in rodents. (deepdyve.com)
  • We provide the first analysis of rodent centromeres with respect to evolutionary breakpoints. (deepdyve.com)
  • respect to evolutionary breakpoints. (deepdyve.com)
  • chromosome in chronic myelocytic leukaemia. (google.es)
  • In three lines - in addition to one previously reported - the DNA fragments encompassing the breakpoints were amplified by PCR using primers located in the rDNA and in telomere sequences. (elsevier.com)
  • All translocation breakpoints were thus referred to precise nucleotide positions (949 breakpoints) or gene fragments (introns or exons, 276 breakpoints) within specific Ensembl transcripts. (biomedcentral.com)
  • D, PCR of wild-type fragments (1F-1R on chromosome 2, 2F-2R on chromosome 8) and a chimeric DNA fragment (1F-2R) in the wild type (CC-124 and CC-125), 8C12, and 9D5. (plantphysiol.org)
  • The numbers on the branches from the first eutherian ancestor to Homo sapiens are the numbers of breakpoints in reconstructed ancestral chromosome fragments. (rvc.ac.uk)
  • Cells normally have two copies of each chromosome, one inherited from each parent. (medlineplus.gov)
  • Two copies of chromosome 18, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
  • Chromosome 18 spans about 78 million DNA building blocks (base pairs) and represents approximately 2.5 percent of the total DNA in cells. (medlineplus.gov)
  • Chromosome 1 spans about 249 million nucleotide base pairs , which are the basic units of information for DNA . (wikipedia.org)
  • Each cell of the body, except for the egg and the sperm cells, contains 23 pairs of chromosomes and 46 chromosomes in total. (encyclopedia.com)
  • Both males and females have 22 pairs of chromosomes, called the autosomes, that are numbered one to twenty-two in order of decreasing size. (encyclopedia.com)
  • Poly-ploid wheat contains homologous as well as homoeologous chromosomes. (fao.org)
  • Analysis of breakpoint junctions implicates breaks followed by repair through non-homologous end joining (NHEJ) or stalled fork repair. (elifesciences.org)
  • Ring chromosome 18 [r(18)] is formed by 18p- and 18q- partial deletion and generates a ring chromosome. (biomedcentral.com)