Chromosome Breakage: A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.Chromosomes: 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)Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Chromosome Fragility: Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Chromosome Fragile Sites: 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.)Tetrahymena thermophila: A species of ciliate protozoa used in genetic and cytological research.Chromosome Banding: 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.Chromosome Disorders: 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)X Chromosome: 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.Chromosome Deletion: Actual loss of portion of a chromosome.In Situ Hybridization, Fluorescence: 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.Sex Chromosomes: 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)Chromosomes, Human, Pair 1: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Fanconi Anemia: Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)Chromosomes, Human: 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.Micronucleus Tests: Induction and quantitative measurement of chromosomal damage leading to the formation of micronuclei (MICRONUCLEI, CHROMOSOME-DEFECTIVE) in cells which have been exposed to genotoxic agents or IONIZING RADIATION.Aneuploidy: 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).Karyotyping: Mapping of the KARYOTYPE of a cell.Telomere: 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.Chromosome Segregation: The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.Chromosomes, Bacterial: Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.Mitosis: 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.Chromosomes, Human, Pair 11: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Centromere: 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.Chromosomes, Human, Pair 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Molecular Sequence Data: 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.DNA Damage: Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a MUTATION or a block of DNA REPLICATION. These deviations may be caused by physical or chemical agents and occur by natural or unnatural, introduced circumstances. They include the introduction of illegitimate bases during replication or by deamination or other modification of bases; the loss of a base from the DNA backbone leaving an abasic site; single-strand breaks; double strand breaks; and intrastrand (PYRIMIDINE DIMERS) or interstrand crosslinking. Damage can often be repaired (DNA REPAIR). If the damage is extensive, it can induce APOPTOSIS.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Micronuclei, Chromosome-Defective: Defective nuclei produced during the TELOPHASE of MITOSIS or MEIOSIS by lagging CHROMOSOMES or chromosome fragments derived from spontaneous or experimentally induced chromosomal structural changes.Chromosomes, Human, Pair 17: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Translocation, Genetic: A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.Sister Chromatid Exchange: An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME.Chromosomes, Human, Pair 6: A specific pair GROUP C CHROMSOMES of the human chromosome classification.Chromosomes, Human, Pair 9: A specific pair of GROUP C CHROMSOMES of the human chromosome classification.Recombination, Genetic: 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.Aphidicolin: An antiviral antibiotic produced by Cephalosporium aphidicola and other fungi. It inhibits the growth of eukaryotic cells and certain animal viruses by selectively inhibiting the cellular replication of DNA polymerase II or the viral-induced DNA polymerases. The drug may be useful for controlling excessive cell proliferation in patients with cancer, psoriasis or other dermatitis with little or no adverse effect upon non-multiplying cells.Chromosomes, Fungal: Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosomes, Plant: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.Chromosomes, Human, Pair 21: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Genome, Protozoan: The complete genetic complement contained in a set of CHROMOSOMES in a protozoan.Chromosomal Instability: An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.X-Rays: Penetrating electromagnetic radiation emitted when the inner orbital electrons of an atom are excited and release radiant energy. X-ray wavelengths range from 1 pm to 10 nm. Hard X-rays are the higher energy, shorter wavelength X-rays. Soft x-rays or Grenz rays are less energetic and longer in wavelength. The short wavelength end of the X-ray spectrum overlaps the GAMMA RAYS wavelength range. The distinction between gamma rays and X-rays is based on their radiation source.Chromosomes, Human, 6-12 and X: 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.Chromosomes, Human, Pair 16: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 2: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Mutation: 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.Chromosomes, Human, Pair 4: A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosome Pairing: The alignment of CHROMOSOMES at homologous sequences.Chromosomes, Human, Pair 8: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Mammalian: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.Chromosomes, Human, Pair 13: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 10: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.DNA: 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).Chromosomes, Human, Y: The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.Chromosomes, Human, Pair 19: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Lymphocytes: White blood cells formed in the body's lymphoid tissue. The nucleus is round or ovoid with coarse, irregularly clumped chromatin while the cytoplasm is typically pale blue with azurophilic (if any) granules. Most lymphocytes can be classified as either T or B (with subpopulations of each), or NATURAL KILLER CELLS.Chromosomes, Artificial, Bacterial: 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.DNA, Protozoan: Deoxyribonucleic acid that makes up the genetic material of protozoa.Chromosomes, Human, X: The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.Zea mays: A plant species of the family POACEAE. It is a tall grass grown for its EDIBLE GRAIN, corn, used as food and animal FODDER.Chromosomes, Human, 1-3: The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.Chromosomes, Human, Pair 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosome Painting: 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.Chromosomes, Human, Pair 5: One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).Fanconi Anemia Complementation Group D2 Protein: A Fanconi anemia complementation group protein that undergoes mono-ubiquitination by FANCL PROTEIN in response to DNA DAMAGE. Also, in response to IONIZING RADIATION it can undergo PHOSPHORYLATION by ataxia telangiectasia mutated protein. Modified FANCD2 interacts with BRCA2 PROTEIN in a stable complex with CHROMATIN, and it is involved in DNA REPAIR by homologous RECOMBINATION.Chromosomes, Human, Pair 14: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.DNA Transposable Elements: 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.Chromosomes, Human, Pair 15: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Artificial, Yeast: 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.Chromosomes, Human, Pair 18: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, 16-18: The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.DNA Repair: The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.Chromosomes, Human, Pair 20: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Chromosomes, Human, 13-15: The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.DNA Replication: The process by which a DNA molecule is duplicated.Chromosome Inversion: 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.Cloning, Molecular: 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.Chromosomes, Human, 21-22 and Y: 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.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Ring Chromosomes: Aberrant chromosomes with no ends, i.e., circular.DNA-Binding Proteins: 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.Polymerase Chain Reaction: 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.Chromosome Positioning: The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.Saccharomyces cerevisiae: 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.Chromosomes, Human, 4-5: The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.X Chromosome Inactivation: 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.Meiosis: 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.Hybrid Cells: 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.Metaphase: 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.Chromosomes, Insect: Structures within the CELL NUCLEUS of insect cells containing DNA.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Chromosome Structures: Structures which are contained in or part of CHROMOSOMES.Chromosomes, Human, 19-20: The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.Cells, Cultured: Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.Crosses, Genetic: 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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Pedigree: 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.Lod Score: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."Microsatellite Repeats: 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).Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Cell Cycle Proteins: 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.Models, Genetic: 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.DNA Breaks: Interruptions in the sugar-phosphate backbone of DNA.Chromatids: 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)Abnormalities, MultipleNucleic Acid Hybridization: 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)Blotting, Southern: 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.Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.Chromosomal Proteins, Non-Histone: 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.Nuclear Proteins: 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.Amino Acid Sequence: 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.Nondisjunction, Genetic: 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.Chromosomes, Artificial, Human: 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.Kinetochores: Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.Spindle Apparatus: 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.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Equipment Failure: Failure of equipment to perform to standard. The failure may be due to defects or improper use.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Chromosome Walking: 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.Repetitive Sequences, Nucleic Acid: 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).Diploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.DNA Probes: 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.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Interphase: 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).Mosaicism: 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.Haplotypes: 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.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Chromosome Duplication: An aberration in which an extra chromosome or a chromosomal segment is made.Genes: 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.Syndrome: A characteristic symptom complex.DNA, Satellite: 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.Plasmids: 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.Polyploidy: The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.Gene Deletion: 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.Chromatin: 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.DNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Cytogenetic Analysis: 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.Chromosome Breakpoints: The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Genome, Human: 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.Cell Nucleus: Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)DNA Topoisomerases, Type II: DNA TOPOISOMERASES that catalyze ATP-dependent breakage of both strands of DNA, passage of the unbroken strands through the breaks, and rejoining of the broken strands. These enzymes bring about relaxation of the supercoiled DNA and resolution of a knotted circular DNA duplex.Haploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.Escherichia coli: A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.Polytene Chromosomes: Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.Genetic Variation: Genotypic differences observed among individuals in a population.Multigene Family: 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)Polymorphism, Genetic: 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.DNA, Neoplasm: DNA present in neoplastic tissue.Gene Amplification: 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.Prophase: 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.Gene Dosage: 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.Loss of Heterozygosity: 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.Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.Species Specificity: 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.DNA, Fungal: Deoxyribonucleic acid that makes up the genetic material of fungi.Cytogenetics: 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.Karyotype: 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)Cosmids: Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.DNA Breaks, Double-Stranded: Interruptions in the sugar-phosphate backbone of DNA, across both strands adjacently.Homozygote: An individual in which both alleles at a given locus are identical.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Genes, Lethal: 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.Histones: Small chromosomal proteins (approx 12-20 kD) possessing an open, unfolded structure and attached to the DNA in cell nuclei by ionic linkages. Classification into the various types (designated histone I, histone II, etc.) is based on the relative amounts of arginine and lysine in each.Sex Chromosome Disorders: 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).Monosomy: The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.Spermatocytes: 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, X-Linked: Genes that are located on the X CHROMOSOME.Sequence Tagged Sites: 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.Genomic Instability: An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.Cricetinae: A subfamily in the family MURIDAE, comprising the hamsters. Four of the more common genera are Cricetus, CRICETULUS; MESOCRICETUS; and PHODOPUS.Polymorphism, Restriction Fragment Length: 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.Sequence Homology, Nucleic Acid: 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 Primers: 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.Gene Duplication: Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Triticum: A plant genus of the family POACEAE that is the source of EDIBLE GRAIN. A hybrid with rye (SECALE CEREALE) is called TRITICALE. The seed is ground into FLOUR and used to make BREAD, and is the source of WHEAT GERM AGGLUTININS.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.Intellectual Disability: 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)Cell Cycle: The complex series of phenomena, occurring between the end of one CELL DIVISION and the end of the next, by which cellular material is duplicated and then divided between two daughter cells. The cell cycle includes INTERPHASE, which includes G0 PHASE; G1 PHASE; S PHASE; and G2 PHASE, and CELL DIVISION PHASE.Comet Assay: A genotoxicological technique for measuring DNA damage in an individual cell using single-cell gel electrophoresis. Cell DNA fragments assume a "comet with tail" formation on electrophoresis and are detected with an image analysis system. Alkaline assay conditions facilitate sensitive detection of single-strand damage.Philadelphia Chromosome: 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).Mutagens: Chemical agents that increase the rate of genetic mutation by interfering with the function of nucleic acids. A clastogen is a specific mutagen that causes breaks in chromosomes.Azure Stains: PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.Chromosomes, Archaeal: Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.Saccharomyces cerevisiae Proteins: Proteins obtained from the species SACCHAROMYCES CEREVISIAE. The function of specific proteins from this organism are the subject of intense scientific interest and have been used to derive basic understanding of the functioning similar proteins in higher eukaryotes.Contig Mapping: Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.Drosophila: 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.Microtubules: Slender, cylindrical filaments found in the cytoskeleton of plant and animal cells. They are composed of the protein TUBULIN and are influenced by TUBULIN MODULATORS.Ploidies: The degree of replication of the chromosome set in the karyotype.Ataxia Telangiectasia: An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).Transcription, Genetic: The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.Sequence Alignment: 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.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.

Telomere loss in somatic cells of Drosophila causes cell cycle arrest and apoptosis. (1/785)

Checkpoint mechanisms that respond to DNA damage in the mitotic cell cycle are necessary to maintain the fidelity of chromosome transmission. These mechanisms must be able to distinguish the normal telomeres of linear chromosomes from double-strand break damage. However, on several occasions, Drosophila chromosomes that lack their normal telomeric DNA have been recovered, raising the issue of whether Drosophila is able to distinguish telomeric termini from nontelomeric breaks. We used site-specific recombination on a dispensable chromosome to induce the formation of a dicentric chromosome and an acentric, telomere-bearing, chromosome fragment in somatic cells of Drosophila melanogaster. The acentric fragment is lost when cells divide and the dicentric breaks, transmitting a chromosome that has lost a telomere to each daughter cell. In the eye imaginal disc, cells with a newly broken chromosome initially experience mitotic arrest and then undergo apoptosis when cells are induced to divide as the eye differentiates. Therefore, Drosophila cells can detect and respond to a single broken chromosome. It follows that transmissible chromosomes lacking normal telomeric DNA nonetheless must possess functional telomeres. We conclude that Drosophila telomeres can be established and maintained by a mechanism that does not rely on the terminal DNA sequence.  (+info)

Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11. (2/785)

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

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. (3/785)

Velo-cardio-facial syndrome (VCFS) is the most common microdeletion syndrome in humans. It occurs with an estimated frequency of 1 in 4, 000 live births. Most cases occur sporadically, indicating that the deletion is recurrent in the population. More than 90% of patients with VCFS and a 22q11 deletion have a similar 3-Mb hemizygous deletion, suggesting that sequences at the breakpoints confer susceptibility to rearrangements. To define the region containing the chromosome breakpoints, we constructed an 8-kb-resolution physical map. We identified a low-copy repeat in the vicinity of both breakpoints. A set of genetic markers were integrated into the physical map to determine whether the deletions occur within the repeat. Haplotype analysis with genetic markers that flank the repeats showed that most patients with VCFS had deletion breakpoints in the repeat. Within the repeat is a 200-kb duplication of sequences, including a tandem repeat of genes/pseudogenes, surrounding the breakpoints. The genes in the repeat are GGT, BCRL, V7-rel, POM121-like, and GGT-rel. Physical mapping and genomic fingerprint analysis showed that the repeats are virtually identical in the 200-kb region, suggesting that the deletion is mediated by homologous recombination. Examination of two three-generation families showed that meiotic intrachromosomal recombination mediated the deletion.  (+info)

Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. (4/785)

Deletions in the distal region of chromosome 8p (del8p) are associated with congenital heart malformations. Other major manifestations include microcephaly, intrauterine growth retardation, mental retardation, and a characteristic hyperactive, impulsive behavior. We studied genotype-phenotype correlations in nine unrelated patients with a de novo del8p, by using the combination of classic cytogenetics, FISH, and the analysis of polymorphic DNA markers. With the exception of one large terminal deletion, all deletions were interstitial. In five patients, a commonly deleted region of approximately 6 Mb was present, with breakpoints clustering in the same regions. One patient without a heart defect or microcephaly but with mild mental retardation and characteristic behavior had a smaller deletion within this commonly deleted region. Two patients without a heart defect had a more proximal interstitial deletion that did not overlap with the commonly deleted region. Taken together, these data allowed us to define the critical deletion regions for the major features of a del8p.  (+info)

Development and validation of a quantitative polymerase chain reaction assay to evaluate minimal residual disease for T-cell acute lymphoblastic leukemia and follicular lymphoma. (5/785)

The presence of occult disease in cancer patients after therapy is one of the major problems faced by oncologists. For example, although 95% of pediatric T-cell acute lymphoblastic leukemia (T-ALL) patients have a complete therapeutic response to multiagent chemotherapy, half will relapse, indicating that they must have harbored low levels of residual cancer cells at the end of therapy. Sensitive detection assays promise to help identify those patients that carry this minimal residual disease (MRD) and are at risk of relapse. We have developed and validated a quantitative polymerase chain reaction (PCR) assay targeting tumor-specific chromosomal rearrangements, including del(1) involving the tal-1 locus in pediatric T-ALL and t(14;18) involving the bcl-2 locus in follicular lymphoma. This quantitative PCR assay utilizes a synthetic internal calibration standard (ICS) that contains priming sequences identical to those found flanking the chromosomal rearrangement breakpoints. Using this ICS-PCR method, the limits of detection were 5 tumor cells at ratios of 1 tumor cell in 10(5) normal cells and a linear range up to 100% tumor cells. This ICS-PCR method has also performed well in terms of precision and accuracy as indicated by low coefficients of variation, minimal random, proportional, and constant errors, and good clinical sensitivity and specificity characteristics. This technique will allow for the evaluation of parameters such as the rate of therapeutic response and the levels of MRD as predictors of patient outcome.  (+info)

Nonrandom cytogenetic alterations in hepatocellular carcinoma from transgenic mice overexpressing c-Myc and transforming growth factor-alpha in the liver. (6/785)

Identification of specific and primary chromosomal alterations during the course of neoplastic development is an essential part of defining the genetic basis of cancer. We have developed a transgenic mouse model for liver neoplasia in which chromosomal lesions associated with both the initial stages of the neoplastic process and the acquisition of malignancy can be analyzed. Here we analyze chromosomal alterations in 11 hepatocellular carcinomas from the c-myc/TGF-alpha double-transgenic mice by fluorescent in situ hybridization with whole chromosome probes, single-copy genes, and 4'-6-diamidino-2-phenylindole (DAPI-) and G-banded chromosomes and report nonrandom cytogenetic alterations associated with the tumor development. All tumors were aneuploid and exhibited nonrandom structural and numerical alterations. A balanced translocation t(5:6)(G1;F2) was identified by two-color fluorescent in situ hybridization in all tumors, and, using a genomic probe, the c-myc transgene was localized near the breakpoint on derivative chromosome der 6. Partial or complete loss of chromosome 4 was observed in all tumors with nonrandom breakage in band C2. Deletions of chromosome 1 were observed in 80% of the tumors, with the most frequent deletion at the border of bands C4 and C5. An entire copy of chromosome 7 was lost in 80% of the tumors cells. Eighty-five percent of the tumor cells had lost one copy of chromosome 12, and the most common breakpoint on chromosome 12 occurred at band D3 (28%). A copy of chromosome 14 was lost in 72%, and band 14E1 was deleted in 32% of the tumor cells. The X chromosome was lost in the majority of the tumor cells. The most frequent deletion on the X chromosome involved band F1. We have previously shown that breakages of chromosomes 1, 6, 7, and 12 were observed before the appearance of morphologically distinct neoplastic liver lesions in this transgenic mouse model. Thus breakpoints on chromosome 4, 9, 14, and X appear to be later events in this model of liver neoplasia. This is the first study to demonstrate that specific sites of chromosomal breakage observed during a period of chromosomal instability in early stages of carcinogenesis are later involved in stable rearrangements in solid tumors. The identification of the 5;6 translocation in all of the tumors has a special significance, being the first balanced translocation reported in human and mouse hepatocellular carcinoma and having the breakpoint near a tumor susceptibility gene and myc transgene site of integration. Moreover, its early occurrence indicates that this is a primary and relevant alteration to the initiation of the neoplastic process. In addition, the concordance between the breakpoints observed during the early dysplastic stage of hepatocarcinogenesis and the stable deletions of chromosomes 1, 4, 6, 7, 9, and 12 in the tumors provides evidence for preferential site of genetic changes in hepatocarcinogenesis.  (+info)

Increased chromosomal instability in peripheral lymphocytes and risk of human gliomas. (7/785)

Brain tumors exhibit considerable chromosome instability (CIN), suggesting that genetic susceptibility may contribute to brain tumorigenesis. To test this hypothesis, in this pilot study, we examined for CIN in short-term lymphocyte cultures from 25 adult glioma patients and 28 age-, sex- and ethnicity-matched healthy controls (all Caucasian). We evaluated CIN by a multicolor fluorescence in situ hybridization assay using two probes: a classic satellite probe for a large heterochromatin breakage-prone region of chromosome 1 and an alpha satellite probe for a smaller region adjacent to the heterochromatin probe. Our results showed a significant increase in the mean number of spontaneous breaks per 1000 cells in glioma patients (mean +/- SD, 2.4+/-0.8) compared with controls (1.4+/-0.9; P < 0.001). By using the median number of breaks per 1000 cells in the controls as the cutoff value, we observed a crude odds ratio (OR) of 8.5 [95% confidence interval (CI) = 2.05-34.9, P < 0.001] for spontaneous breaks and brain tumor risk. After adjustment for age, sex and smoking status, the adjusted OR was 15.3 (95% CI, 2.71-87.8). A significant increase in cells with chromosome 1 aneuploidy (in the form of hyperdiploidy) (P < 0.001) was also observed in the glioma cases, with an adjusted OR of 6.6 (95% CI = 1.5-30, P < 0.05). These findings suggest that CIN can be detected in the peripheral blood lymphocytes of brain tumor patients and may be a marker for identifying individuals at risk.  (+info)

Rearrangements of chromosome band 1p36 in non-Hodgkin's lymphoma. (8/785)

We studied 850 consecutive cases of histologically ascertained pretreatment non-Hodgkin's lymphoma with cytogenetically abnormal clones. The diagnostic karyotypes revealed that 12% of these cases exhibited structural rearrangements involving chromosome band 1p36. Here, we describe the karyotypes of 53 cases containing a 1p36 rearrangement [often involving translocations of unknown material and presented as add(1)(p36)]. We used fluorescence in situ hybridization to determine the origin of the translocation partners. We report three different recurrent translocations involving 1p36. These include der(1)t(1;1)(p36;q21) (three cases), der(1)t(1;1)(p36;q25) (three cases), and der(1)t(1;9)(p36;q13) (four cases). Using cytogenetic and fluorescence in situ hybridization analyses, we have resolved the translocation partners in 31 cases. Rearrangements of band 1p36 were found among different histopathological subtypes. Alterations of 1p36 never occurred as a sole abnormality, and in 42 of 53 cases, alterations of the band 14q32 were observed. The t(14;18)(q32;q21) translocation was present in 35 cases. The significantly high occurrence of 1p36 breakpoint in structural rearrangements and its involvement in recurrent translocations suggest that the region is bearing gene(s) that are important in lymphomagenesis. Our study also showed that cytogenetically evident deletions were frequent in chromosome 1p, almost always involving the p36 region, whereas duplications were rare and never encompassed the p36 region. Chromosome band 1p36 harbors many candidate tumor suppressor genes, and we propose that one or more of these genes might be deleted or functionally disrupted as a molecular consequence of the rearrangements, thus contributing to lymphomagenesis.  (+info)

Actinomycin D. from one chromosome and then insert into another. The excision of Ac may cause a break in the chromosome, and this is what generated the breakage-fusion-bridge cycles that McClintock observed. Ds is a defective transpon that contains a deletion in its transposase locus. Therefore the Ds transposon can move from chromosome to chromosome only if Ac is also in the nucleus to supply its transposase. Ac and Ds were originally classified as mutator genes, since they would sometimes insert into structural genes and modify their functioning. See Appendix C, 1950, McClintock; 1984, Pohlman et al.; Dotted, genomic instability, mutator gene, terminal inverted repeats (TIRs), transposon tagging.. active center in the case of enzymes, a flexible portion of the protein that binds to the substrate and converts it into the reaction product. In the case of carrier and receptor proteins, the active center is the portion of the molecule that interacts with the specific target compounds.. active ...
In this study, we developed a new strategy to detect DNA palindromes by coupling fast annealing genomic DNA treated by S1 nuclease (GAPF) with high-throughput sequencing (GAP-Seq) and recovery of novel palindrome junctions. We chose to use the MCF-7 breast cancer cell line for this initial proof-of-principle study because it has been extensively analyzed at the genomic level, allowing us to determine if our approach could generate novel data. In fact, none of our palindrome junctions had been identified by either sequence analysis or novel breakpoint analyses of MCF-7 [22, 25, 26]. This difference may be a result of either or both of two constraints presented by the characteristics of palindromes: 1) the breakpoint analysis was done from BAC clones, where palindromes are not stable during E.coli propagation, and 2) most of novel breakpoints identified here are located in or near to repeat-masked regions and would not be recovered by mapping of high-throughput sequencing data without knowing more ...
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.
Chromosomal breakage syndromes are a group of genetic disorders that are characterised by a defect in DNA repair mechanisms or genomic instability, and patients with these disorders show increased predisposition to cancer in addition to distinct clinical presentations. VCGS offers testing for Ataxia talengiectasia and Bloom syndrome.. ...
We integrated WGS data from over 2600 tumours spanning more than 30 cancer types," says Isidro Cortés-Ciriano, Group Leader at EMBL-EBI and a former postdoctoral researcher at Harvard Medical School.. "From this we discovered that chromothripsis events and other types of complex genome rearrangements are pervasive across human cancers, with frequencies greater than 50% of tumours in some cancer types.". Using WGS datasets gave the researchers an enhanced view of chromothripsis events in the cancer genome. Previous studies looking at the role of chromothripsis in cancer and congenital diseases often used low-resolution array-based technologies.. Here the researchers were able to show that chromothripsis events are much more prevalent in cancer than previously estimated. They also characterised the patterns of massive genome alterations across cancer types, and studied the DNA repair mechanisms involved in their generation.. "This study is yet another demonstration of the power of large-scale ...
Bloom syndrome is an archetypal "chromosome breakage syndrome." A recessively inherited mutation in the BLM gene leads to an inordinate frequency of chromosomal breaks and rearrangements, possibly via aberrant repair of breaks in double stranded DNA.7-10 The BLM mutation in turn gives rise throughout life to a high number of acquired somatic mutations. Genomic instability can affect virtually all genetic loci, cell types, and tissues in an individual with Bloom syndrome, so it is not surprising that manifold ocular abnormalities have been observed. As described here, a single patient in a short span of time displayed multiple independent retinal pathologies. In addition to early onset retinal drusen, which may be considered characteristic for the syndrome, he developed two different complications secondary to systemic diseases: diabetic retinopathy and leukaemic retinopathy.. Perhaps the most common ocular finding in Bloom syndrome is the presence of retinal drusen at an early age (fig 1); noted ...
Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations ...
CL induces DNA modification and irreversible/reversible DNA breakage at gyrase cleavage sites. (A) Probing CL modification and cleavage reversibility. The S fra
Chromothripsis is the phenomenon by which up to thousands of clustered chromosomal rearrangements occur in a single event in localised and confined genomic regions in one or a few chromosomes, and is known to be involved in both cancer and congenital diseases. It occurs through one massive genomic rearrangement during a single catastrophic event in the cells history. It is believed that for the cell to be able to withstand such a destructive event, the occurrence of such an event must be the upper limit of what a cell can tolerate and survive. The chromothripsis phenomenon opposes the conventional theory that cancer is the gradual acquisition of genomic rearrangements and somatic mutations over time. The simplest model as to how these rearrangements occur is through the simultaneous fragmentation of distinct chromosomal regions (breakpoints show a non-random distribution) and then subsequent imperfect reassembly by DNA repair pathways or aberrant DNA replication mechanisms. Chromothripsis ...
15 NCCN Guidelines for Patients ® : Follicular Lymphoma, Grade 1-2, 2017 2 Treatment planning 16 Medical history 17 Physical exam 17 Blood tests 19 Imaging tests 20 Bone marrow exam 21 Heart tests 21 Fertility and pregnancy 22 Review ...
TY - JOUR. T1 - Effects of roll gap, kernel shape, and moisture on wheat breakage modeled using the double normalized kumaraswamy breakage function. AU - Fuh, Kenneth F.. AU - Coate, Joanna M.. AU - Campbell, Grant M.. N1 - No full text in Eprints. HN 21/11/2017. PY - 2014/1. Y1 - 2014/1. N2 - Flour milling separates endosperm from bran through repeated roller milling and sifting, in which the size distribution of particles produced by the initial breakage of the wheat kernels critically affects the process. The double normalized Kumaraswamy breakage function (DNKBF), previously developed to describe wheat breakage during roller milling, was extended to refine the modeling of the effect of roll gap on breakage. The DNKBF describes two populations of particles arising from roller milling of wheat, a narrow peak of mid-sized particles and a wider distribution of both small and very large particles. A new dataset was obtained from milling a set of wheat samples bred to give a range of shapes by ...
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 ...
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.
genetic material that is out of its normal place, as when deoxyribonucleic acid (DNA) from one chromosome breaks off and gets attached to a different chromosome. See also |b>chromosome|/b>, |b>deoxyribonucleic acid|/b>, |b>mutation|/b>.
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This chromosome fragility involves the generation of chromosome/chromatid gaps or breaks, or the high frequency loss of one or both copies of the affected gene. Other repeat diseases, like Fragile X Syndrome (FXS) have been shown to have chromosome fragility. This has not been previously studied in FA. This research shows that the region of chromosome 9 that contains the FXN locus is intrinsically prone to breakage in vivo even in control cells. However, like FXS alleles, FRDA alleles show significantly elevated levels of chromosome abnormalities in the presence of an ATM inhibitor, consistent with the formation of a fragile site.. Read more: Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia. ...
Nijmegen breakage syndrome is an autosomal recessive disorder characterized by microcephaly, immunodeficiency, hypersensitivity to X-irradiation, and a high predisposition to cancer. Nibrin, the product of the NBN gene, is part of the MRE11/RAD50 (MRN) complex that is involved in the repair of DNA double strand breaks (DSBs), and plays a critical role in the processing of DSBs in immune gene rearrangements, telomere maintenance, and meiotic recombination. NBS skin fibroblasts grow slowly in culture and enter early into senescence. Here we present an incidental finding. Skin fibroblasts, derived from a 9 year old NBS patient, showed a mosaic of normal diploid cells (46,XY) and those with a complex, unbalanced translocation. The aberrant karyotype was analysed by G-banding, comparative genomic hybridization, and whole chromosome painting. The exact breakpoints of the derivative chromosome were mapped by whole genome sequencing: 45,XY,der(6)(6pter → 6q11.1::13q11 → 13q21.33::20q11.22 → 20qter),-13.
Lim, G., J. Karaskova, et al. (2005). "An integrated mBAND and submegabase resolution tiling set (SMRT) CGH array analysis of focal amplification, microdeletions, and ladder structures consistent with breakage-fusion-bridge cycle events in osteosarcoma." Genes Chromosomes Cancer 42(4): 392-403. Coe, B. P., L. J. Henderson, et al. (2005). "High-resolution chromosome arm 5p array CGH analysis of small cell lung carcinoma cell lines." Genes Chromosomes Cancer 42(3): 308-13. Garnis, C., B. Coe, et al. (2004). "Construction and optimization of chromosome arm-specific comparative genomic hybridization arrays for identifying genetic alterations in preinvasive lung cancers." Chest 125(5 Suppl): 104S-5S. Garnis, C., B. P. Coe, et al. (2004). "Overexpression of LRP12, a gene contained within an 8q22 amplicon identified by high-resolution array CGH analysis of oral squamous cell carcinomas." Oncogene 23(14): 2582-6. de Leeuw, R. J., J. J. Davies, et al. (2004). "Comprehensive whole genome array CGH ...
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Diagnosis Code C82.2 information, including descriptions, synonyms, code edits, diagnostic related groups, ICD-9 conversion and references to the diseases index.
Diagnosis Code C82.11 information, including descriptions, synonyms, code edits, diagnostic related groups, ICD-9 conversion and references to the diseases index.
Free, official coding info for 2018 ICD-10-CM C82.2 - includes detailed rules, notes, synonyms, ICD-9-CM conversion, index and annotation crosswalks, DRG grouping and more.
Free, official coding info for 2018 ICD-10-CM C82.32 - includes detailed rules, notes, synonyms, ICD-9-CM conversion, index and annotation crosswalks, DRG grouping and more.
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Recent advances in comparative genomics have considerably improved our knowledge of the evolution of mammalian karyotype architecture. One of the breakthroughs was the preferential localization of evolutionary breakpoints in regions enriched in repetitive sequences (segmental duplications, telomeres and centromeres). In this context, we investigated the contribution of ribosomal genes to genome reshuffling since they are generally located in pericentromeric or subtelomeric regions, and form repeat clusters on different chromosomes. The target model was the genus Mus which exhibits a high rate of karyotypic change, a large fraction of which involves centromeres. The chromosomal distribution of rDNA clusters was determined by in situ hybridization of mouse probes in 19 species. Using a molecular-based reference tree, the phylogenetic distribution of clusters within the genus was reconstructed, and the temporal association between rDNA clusters, breakpoints and centromeres was tested by maximum likelihood
Genome instability, associated with chromosome breakage syndromes and most human cancers, is still poorly understood. In the yeast Saccharomyces cerevisiae, numerous genes with roles in the preservation of genome integrity have been identified. DNA-damage-checkpoint-deficient yeast cells that lack Sgs1, a RecQ-like DNA helicase related to the human Blooms-syndrome-associated helicase BLM, show an increased rate of genome instability, and we have previously shown that they accumulate recurring chromosomal translocations between three similar genes, CAN1, LYP1 and ALP1. Here, the chromosomal location, copy number and sequence similarity of the translocation targets ALP1 and LYP1 were altered to gain insight into the formation of complex translocations. Among 844 clones with chromosomal rearrangements, 93 with various types of simple and complex translocations involving CAN1, LYP1 and ALP1 were identified. Breakpoint sequencing and mapping showed that the formation of complex translocation types is
in Cancer Genetics & Cytogenetics (2006), 166(1), 1-11. Chromosome 21 is frequently rearranged in hematopoietic malignancies. In order to detect new chromosomal aberrations, the Groupe Francais de Cytogenetique Hematologique collected a series of 107 patients ... [more ▼]. Chromosome 21 is frequently rearranged in hematopoietic malignancies. In order to detect new chromosomal aberrations, the Groupe Francais de Cytogenetique Hematologique collected a series of 107 patients with various hematologic disorders and acquired structural abnormalities of the long arm of chromosome 21. The abnormalities were subclassified into 10 groups, according to the location of the 21q breakpoint and the type of abnormality. Band 21q22 was implicated in 72 patients (excluding duplications, triplications, and amplifications). The involvement of the RUNX1 gene was confirmed in 10 novel translocations, but the gene partners were not identified. Eleven novel translocations rearranging band 21q22 with hands 1q25, ...
Microdeletions and microduplications in the genome are caused by chromosome misalignment between blocks of region‐specific low copy repeats and result in genomic disorders
Understanding the genetic component of scoliosis in humans has relied on the assumption that spine development is conserved across species. Since evolutionary conserved genes tend to lie within synteny blocks (HSBs) and genes which are not conserved lie within evolutionary breakpoint regions (EBRs), HSB analysis may be used to determine if spine development is conserved across species. We hypothesized that vertebral patterning genes are conserved in amniotes and their location is within stable or
In a paper in eLife published in May 2105 Han Tan and colleagues report that when Arabidopsis with weakened centromeres is crossed to the wild type, i.e. a plant with normal centromeres, the resulting embryos undergo chromothripsis, the cut-and-reassembly process leading to highly rearranged chromosomes. Because weakened centromeres can occur naturally, this process may contribute to the evolution of new chromosomes types. Additionally, this process can be manipulated genetically to provide a high frequency of haploids, a genetic type that accelerates plant breeding. Last, this provides an experimentally tractable system to study complex rearrangements associated with human diseases. This is a Simon Chan legacy paper ...
Given the unusual and distinctive combination of impaired cognitive function, hyperactivity, and severe obesity and the similarities in phenotype to a previously reported patient with a mutant TrkB and the strong evidence for loss of expression of one allele of BDNF, it would seem highly plausible that the clinical phenotype in this patient has resulted from a reduction in BDNF. However, the patient does harbor a chromosomal inversion and not a simple loss of function mutation, and it is possible that some aspects of her phenotype could relate to positional effects at other genes in the region. However, none of the rodent models or human mutations disrupting other genes in this region have been associated with a comparable neurobehavioral and obesity phenotype. Nonetheless, we cannot exclude the possibility of disruption of other genes of unknown function. As yet, we have not fully characterized the distal breakpoint and thus cannot exclude the possibility that a centrally expressed gene is ...
If you have a question about this talk, please contact Dr Ireena Dutta.. Hutchison/MRC Research Centre Seminar. Abstract not available. This talk is part of the Cambridge Oncology Seminar Series series.. ...
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 ...
19/02/20: Katholieke Universiteit Nijmegen: Profil acad mique, opinions et t moignages d tudiants internationaux... Ponctuations: tudes: 4.0/5, Langues trang res: 4.5/5, Vie tudiante: 4.7/5, Logement: 3.9/5, Frais: 3.3/5, valuation globale: 4.6/5. Classements, Admissions, Programmes...
Reporting in Nature Communications, the research team suggests that the cell-based system of hormone replacement, because of its ability to match dose with the bodys needs, is an attractive alternative to drugs and is consistent with current guidelines in the U.S. and Europe recommending the lowest possible doses of hormone replacement therapy.. Safe hormone replacement will likely become increasingly important as the population of aging women grows, said Opara. Whether the loss of ovarian function is due to surgical removal, chemotherapy or menopause, the effects can range from hot flashes and vaginal dryness to infertility and increased risk of osteoporosis and heart disease.. To engineer the bioartificial ovary, the research team isolated the two types of cells found in ovaries (theca and granulosa) from rats. A thin membrane was used as a capsule to contain the cells and then implanted in rats that had their ovaries removed. These rats were compared with animals with normal ovarian ...
Figure 1. Identification and characterization of a novel KRAS rearrangement in metastatic prostate cancer. A, left, amplification breakpoint analysis and ConSig scoring (yellow line) of 3′ amplified genes from a panel of advanced prostate cancer cell lines nominating KRAS as a fusion gene candidate with 3′ amplification (red columns) in the DU145 prostate cancer cell line. Right, matching the amplification level of 5′ amplified genes in DU145 cells nominates SOX5, C14orf166, and UBE2L3 as 5′ fusion partner candidates for KRAS. Relative quantification of DNA copy number data from the genomic regions 1 Mb apart from the candidate fusion genes is shown. The x-axis indicates the physical position of the genomic aberrations; fusion partners are indicated by gray arrows. B, sequencing results from RT-PCR, revealing fusion of UBE2L3 with KRAS in DU145. Structures for the UBE2L3 and KRAS genes have their basis in the Genbank reference sequences. Numbers above the exons (boxes) indicate the last ...
The biopsy shows classic features of a follicular lymphoma. The nodular germinal center-like architecture and cytomorphology along with the corroborative phenotypic profile is typical for this form of B cell neoplasia. In this case, the neoplastic cells expressed CD10, Bcl-6, and Bcl-2. In this regard, the differential diagnosis is largely between a grade II nodal follicular
The success of a RH mapping project depends on the level of radiation-induced breakage of chromosomes and the ability to recover subchromosome fragments. An additional consideration is the ability to detect chromosome breaks with available markers. We have material of an alloplasmic durum line with the A and B genome chromosomes where a portion of the 1D chromosome carrying scsae from hexaploid wheat has been introgressed. Radiation induces breakage over the entire genome of this line and except for breakages in the 1D portion, all other breakages are masked due to addition of complementary A and B genome chromosome after crossing the irradiated RH0 plants with LDN16. Using DNA-based markers for chromosome 1D, we have successfully identified the critical breakages (Figures 5 and 6).. In our study, we used 39 DNA-based markers in analyzing radiation-induced breakages in a mapping population of 87 individuals. Twenty-seven of these markers identified breakages in chromosome 1D (Figure 5) and the ...
Researchers from Indiana University-Purdue University Indianapolis (U.S.A) and Umea° University (Sweden) report in a study published in the February 15, 2011, issue of PLoS Biology that a method by which cells repair breaks in their DNA, known as Break-induced Replication (BIR), is up to 2,800 times more likely to cause genetic mutation than normal cell repair.. Accurate transmission of genetic information requires the precise replication of DNA. Errors in DNA replication are common and nature has developed several cellular mechanisms for repairing these mistakes. Mutations, which can be deleterious (development of cancerous cells), or beneficial (evolutionary adaption), arise from uncorrected errors. When one or many cells repair themselves using the efficient BIR method, accuracy is lost.. "When BIR occurs, instead of using a "band aid" to repair a chromosomal break, the broken piece invades another chromosome and initiates replication which happens at the wrong place and at the wrong time ...
Use the wwhen magnitude as well as voxel intensity with a statistical relaxation method for brain segmentation 29. DDEF1 (development and differentiation enhancing factor1) and NBS1 (Nijmegen breakage syndrome 1), located on chromosome 8 close to c-Myc, are more frequently overexpressed than c-myc in association propranool 8q gain, and these genes rather than c-Myc may be responsible for the poor prognosis.
There is now sufficient scientific data about the biological effects of EMF, and in particular about radiofrequency (RF) radiation, to argue for adoption of precautionary measures. We can state unequivocally that EMF can cause single and double strand DNA breakage at exposure levels that are considered safe under the FCC guidelines in the USA. As I shall illustrate below, there are also epidemiology studies that show an increased risk of cancers associated with exposure to RF. Since we know that an accumulation of changes or mutations in DNA is associated with cancer, there is good reason to believe that the elevated rates of cancers among persons living near radio towers are probably linked to DNA damage caused by EMF. Because of the nature of EMF exposure and the length of time it takes for most cancers to develop, one cannot expect conclusive proof such as the link between helicobacter pylori and gastric ulcer. (That link was recently demonstrated by the Australian doctor who proved a link ...
Fregoso,M. Laine,J.P. Aguilar-Fuentes,J. Moquet,V. Reynaud,E. Coin,F. Egly,J.M. Zurita,M. 2007. DNA repair and transcriptional deficiencies caused by mutations in the Drosophila p52 subunit of TFIIH generate developmental defects and chromosome fragility Molecular and Cellular Biology, 27, 3640-3650 ...
Inherited chromosomal translocations play a key role in evolution by rearranging genetic material, which in rare cases can be beneficial. They can also be deleterious - translocations are often associated with cancer. The researchers find that the chromosome breaks linked to cancer are more likely to occur in proximity to the evolutionary breakage hotspots. The authors also conclude, based on computer-generated reconstructions of the genomes of long-extinct mammals, that there was a sharp increase in the rate of chromosomal evolution among mammals following the demise of the dinosaurs some 65 million years ago ...
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. ...
Breakpoint characterization by 44K oligonucleotide array-CGH. a: 7.1 Mb deletion at 8p [arr 8p23.3p23.1(191,530-7,303,237)x1] and b: 30 Mb duplication at 15q
MEDFORD/SOMERVILLE, Mass. (Dec. 5, 2017) -- Understanding complex genomic rearrangements (CGRs), the culprit in the development of many types of cancer and genetic disorders, has always been a challenge because of the limitations of established DNA sequencing techniques. However, a team led by Tufts University biologists has successfully harnessed new technology to develop an approach that could allow for rapid and precise identification of the CGRs involved in disease, cancer and disorder development, which is critical for diagnosis and treatment.
Reichel M, Gillert E, Angermüller S, Hensel JP, Heidel F, Lode M, Leis T, Biondi A, Haas OA, Strehl S, Panzer-Grümayer ER, Griesinger F, Beck JD, Greil J, Fey GH, Uckun FM, Marschalek R. Biased distribution of chromosomal breakpoints involving the MLL gene in infants versus children and adults with t(4;11) ALL. Oncogene 2001; 20, 2900-2907 ...
African-American hair is particularly vulnerable to breakage. This problem is amplified by factors that promote thinner, more delicate hair strands....
Here we present a protocol to measure the modulus of rupture of an extruded catalyst and the breakage of said catalyst extrudates by...
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Introduction: Genomic instability has been proposed to play a role in cancer development and can occur through different mechanisms including telomere association and telomere loss. Studies carried out in our unit have demonstrated that familial papillary thyroid cancer (fPTC) patients display an imbalance, at the germinal level, in telomere-telomerase complex. Aim: We aimed to verify whether familial fPTC patients show an increased spontaneous chromosome fragility. Methods: To this purpose, we compared telomeric fusions and associations as well as other chromosomal fragility features by conventional and molecular cytogenetic analyses, in phytohemagglutinin stimulated T-lymphocytes from fPTC patients, unaffected family members, sporadic papillary thyroid cancer patients, and healthy subjects. Results: We demonstrate that fPTC patients have a significant increase in spontaneous telomeric associations and telomeric fusions compared with healthy subjects and sporadic cases in the frame of an ...
PubMed comprises more than 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
Glial cells are crucial for the normal function of neurons and are intricately involved in the pathogenesis of neurodegenerative diseases as well as neurologic malignancies. A deeper understanding of the mechanisms by which glial cells influence the development of such pathologies will undoubtedly lead to new and improved therapeutic approaches. Commercially available human embryonic stem cells (hESCs) and induced pluripotent stem cells (iPSCs), both of which can be differentiated into neural progenitors (NPs) and various neural cell lineages, have become widely used as sources for producing normal human central nervous system (CNS) cells. Read More ...
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 ...
Previously, we observed that heterochromatic 4 and Y chromosomes that had experienced breakage in the male germline were frequently transmitted to progeny. Their behavior suggested that they carried functional telomeres. Here we show that efficient healing by de novo telomere addition is not unique to heterochromatic breaks. ...
Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies.: Recent molecular cytogenetic data have shown
The chromosome damage in the peripheral circulating blood could be used as a biomarker to identify those with intestinal inflammation before they show any symptoms or suffer any distress. In the study, the chromosome damage could be detected in the blood before the onset of colitis in the mouse models the team studied, which were engineered to develop the inflammatory disorder, said Aya Westbrook, a graduate student of the UCLA Molecular Toxicology Interdepartmental Program and first author of the paper. She also noted that the severity of the disease correlated with higher levels of chromosome damage in the blood ...
To investigate the reason for this decline in the success of nuclear transfers, the fate of transplanted nuclei in eggs was investigated by wax embedding and serial sectioning. In some cases no transplanted nucleus was found at all and this could have been because the nucleus was broken or pulled out of the egg as the injection pipette was withdrawn. Therefore, technical difficulties accounted for some of the failures. Furthermore, previous work had shown the desirability of breaking the donor cell to the least extent possible, thereby enabling it to be protected by donor cell cytoplasm. Therefore, in these experiments, I used the least amount of donor cell distortion that gave a reasonable proportion of broken donor cells. A number of the recipient eggs may therefore have received unbroken donor cells, which cannot participate in development.. It was also known from work in Rana pipiens (Di Berardino and King, 1967) that transplanted somatic nuclei often undergo severe chromosome breakage. This ...
I have read recently that at high concentrations of LSD produced chromosome damage and was mutagenic. So its a weakly mutagenic. Does that mean at the concentration people take it at it would do slight damage or what about for people who take it a lot.
Cancer is a very unique kind of disease. Rare in plants to begin with, experts had long thought that animals were more susceptible to often-fatal cancer conditions because they exclusively experience chromothripsis, commonly called chromosome shattering. Now, experts have found the first evidence of this phenomenon in plants - a revelation with some intriguing implications.
The RAD50 gene is associated with an increased risk for autosomal dominant breast, ovarian, and possibly other cancers in individuals who carry a single pathogenic variant. Additionally, the RAD50 gene has preliminary evidence supporting a correlation with autosomal recessive Nijmegen breakage syndrome-like disorder (NBSLD) (MedGen UID: 442700).
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 ...
The FATE gene maps to Xq28 where one case of a translocation breakpoint has been found in an infertile man. Moreover, the FATE promoter contains a putative SF-1-binding site, and F
A tropical beach paradise in Mexico was the last place Georgie Basset expected her decimated heart to be jump-started again, not after shed been jilted the year before by her fiancé, leading to said breakage.
Puritans sterile PurFlock Ultra flocked swab 25-3506-U features an elongated tip for effective collection of bacterial or micro-organisms.
Since 3rd year of life inflammatory process in joints was obserwed: the swelling, effusion of right knee, swelling of right wrist and 3rd and 4th finger of the right hand. The X-ray of the right knee was correct. In ultrasound inflammation was confirmed in the knee, tendovaginitis of the extensor of 4th finger tendon and flexor of 3rd finger of the right hand. ESR and CRP were in norm, trombocytosis 508G/L, Rheumatoid Factor-352 IU/ml, Anti CCP antibodies (-), antigen HLA B27(+), inflammatory character of synovial fluid, sterile join fluid cultures. The patient received i.a. glukokortykosteroid (GKs), IVIG 1mg/kg/month with improvement. In 2013 after pharyngitis exacerbation of arthritis: swelling and effusion in the knee, enlargement of the knee which suggested hypertrophy of epiphysis the bones of the right knee, swelling and limitation of motion in the right wrist, swelling of 3rd, 4th finger of the right hand and 2nd,3rd finger of the left hand with tendency to flexion contractions in ...
TY - JOUR. T1 - Complex chromosome rearrangements. Report of a new case and literature review. AU - Pai, G. S.. AU - Thomas, G. H.. AU - Mahoney, W.. AU - Migeon, Barbara R. PY - 1980. Y1 - 1980. N2 - A complex and unique, apparently balanced translocation involving three autosomes and an X in a phenotypically abnormal child is described. Family studies using glucose 6 phosphate dehydrogenase as a marker provided biochemical evidence of non-random expression of this Xq locus and suggested that this de novo abnormality in the proband could be paternal in origin - the first such instance to be recorded.. AB - A complex and unique, apparently balanced translocation involving three autosomes and an X in a phenotypically abnormal child is described. Family studies using glucose 6 phosphate dehydrogenase as a marker provided biochemical evidence of non-random expression of this Xq locus and suggested that this de novo abnormality in the proband could be paternal in origin - the first such instance to ...
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.
The ICD-10 Code C82.45 is the code used for Foliclar lymph grade IIIb, nodes of ing rgn and lower limb .An alternative description for this code is Follicular lymphoma grade IIIb, lymph nodes of ...
OncoLink, the Webs first cancer resource,provides comprehensive information on coping with cancer, cancer treatments, cancer research advances, continuing medical education, cancer prevention, and clinical trials
Edelmann L, Spiteri E, McCain N, Goldberg R, Pandita RK, Duong S, Fox J, Blumenthal D, Lalani SR, Shaffer LG, Morrow BE, A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation. Am J Hum Genet65(6):1608-16 ...
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
Question - Is there any possibility of getting rabies without any breakage of skin?. Ask a Doctor about diagnosis, treatment and medication for Rabies, Ask an Internal Medicine Specialist
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 ...
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 ...
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Array CGH was done as previously described (9-11). Genomic arrays (SMRT v.1 and v.2) were obtained from the British Columbia Cancer Research Center Array Laboratory (9, 10). Briefly, sample and normal reference genomic DNA (250 ng each) were differentially labeled and mixed with 100 μg of human Cot-1 DNA (Invitrogen), purified, and hybridized to the array at 45°C for 36 h before washing. Hybridized arrays were scanned for signal intensities as previously described (9, 12). Image data were LOWESS, spatial, and median normalized (13, 14). SeeGH software combined duplicate spot data and displayed log 2 ratios in relation to genomic locations in the hg17 assembly (NCBI Build 35; ref. 15). Duplicate spots with SDs ,0.075 or with signal-to-noise ratios ,3 were stringently filtered, leaving informative clones for breakpoint analysis (9, 12). Segmental gains and losses were detected and confirmed using three separate algorithms: aCGH-Smooth, DNACopy, and LSPHMM (16-18). Altered regions that were ...
This software draws an image for one chromosomal rearrangement.. Enter the description of ONE rearrangement (in numbers: 1; it is exactly 1, not 2, not 3!) giving raise to one or more derivative chromosome(s) in the text field below, select the desired map viewer with which chromosomal bands are to be linked, banding resolution and color style, then click "Draw". The CyDAS software will then compute an image map containing the ideogram(s) of the derivative chromosome, with links to the NCBI or Ensembl map viewer.. It is absolutely indispensible that break points are specified; denoting them at a lower resolution than the resolution for the image may yield inconsistencies. Ring chromosomes are shown linearized.. Hint: a complete karyogram can be drawn with the example program #4.. ...
Background: Recent molecular studies of breakpoints of recurrent chromosome rearrangements revealed the role of genomic architecture in their formation. In particular, segmental duplications representing blocks of ,1 kb with ,90% sequence homology were shown to mediate non-allelic homologous recombination (NAHR). However, the occurrence of the majority of newly detected submicroscopic imbalances cannot be explained by the presence of segmental duplications. Therefore, further studies are needed to investigate whether architectural features other than segmental duplications mediate these rearrangements.. Methods: We analysed a series of patients with breakpoints clustering within chromosome band 5q35. Using high density arrays and subsequent quantitative polymerase chain reaction (qPCR), we characterised the breakpoints of four interstitial deletions (including one associated with an unbalanced paracentric inversion), a duplication and a familial reciprocal t(5;18)(q35;q22) ...
Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008 ...
This gene encodes a DNA-binding protein which specifically recognizes conserved target sequences at the breakpoint junction of chromosomal translocations. Translin polypeptides form a multimeric structure that is responsible for its DNA-binding activity. Recombination-associated motifs and translin-binding sites are present at recombination hotspots and may serve as indicators of breakpoints in genes which are fused by translocations. These binding activities may play a crucial role in chromosomal translocation in lymphoid neoplasms. This protein encoded by this gene, when complexed with translin-associated protein X, also forms a Mg ion-dependent endoribonuclease that promotes RNA-induced silencing complex (RISC) activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012 ...
Safeguards for maintaining the integrity of chromosomes during cell growth and division can fail, and a cell may find itself trying to divide into two daughter cells with a loose chromosomal fragment drifting away from a broken chromosome. Researchers at UC Santa Cruz are studying a remarkable mechanism that carries broken chromosomes through the process of cell division so that they can be repaired and function normally in the daughter cells.
TSNAX Full-Length MS Protein Standard (NP_005990), Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine, was produced in human 293 cells (HEK293) with fully chemically defined cell culture medium to obtain incorporation efficiency at Creative-Proteomics. This gene encodes a protein which specifically interacts with translin, a DNA-binding protein that binds consensus sequences at breakpoint junctions of chromosomal translocations. The encoded protein contains bipartite nuclear targeting sequences that may provide nuclear transport for translin, which lacks any nuclear targeting motifs.
I said it was built better, and if a generic company can build a better figure, why cant Mattel. I never addressed the sculpt. If Mattel could combine their sculpt with PTE construction, they would have the best figure out there. As to breakage, I had 3 PE figures break in a 2 month span, and these are the only unintentional breaks I have ever had, and that is just me. I still see people reporting breaks months later. Superfly, I wish I had your luck. I dont think it is possible to accidentally break a PTE figure. Maybe it was once, but not any more ...
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TY - JOUR. T1 - Chromosomal aberrations and common fragile sites in neuroblastoma patients. AU - Vernole, P.. AU - Tedeschi, B.. AU - Pianca, C.. AU - Nicoletti, B.. AU - Riccardi, R.. AU - Melino, G.. PY - 1990. Y1 - 1990. N2 - We analyzed cytogenetically blood cells and bone marrow cells from 20 neuroblastoma patients. Chromosome common fragile sites were induced by aphidicolin in normal peripheral blood lymphocytes. All neuroblastoma patients showed a higher increase of aberrations after aphidicolin treatment as compared to that found in normal controls. In some cases it was possible to correlate the increase of the expression of a specific fragile site, 1p32, with deletions in the same area in bone marrow cells.. AB - We analyzed cytogenetically blood cells and bone marrow cells from 20 neuroblastoma patients. Chromosome common fragile sites were induced by aphidicolin in normal peripheral blood lymphocytes. All neuroblastoma patients showed a higher increase of aberrations after aphidicolin ...
TRF2 (telomeric do it again binding aspect 2) can be an essential element of the telomeric cover where it forms and stabilizes the T-loop junctions. influence on nonhomologous overexpression and end-joining of TRF2 inhibited nonhomologous end-joining. We propose predicated on our outcomes and on the power of TRF2 to mediate strand invasion that TRF2 has an essential function in HR by facilitating the forming of early recombination intermediates. assay that methods the repair of the induced chromosomal break. The reporter cassette for recognition of NHEJ previously was defined (13). It includes the GFP gene with an artificially constructed BIX 02189 3-kb intron in the gene (GFP-Pem1) (Fig. 1intron includes adenoviral exon flanked by identification sequences for I-SceI endonuclease in inverted orientation. Digestive function with I-SceI generates DSB with incompatible DNA ends (Fig. 1ORF. Upon induction of DSBs by appearance of I-SceI the adenoviral exon is normally taken out NHEJ reconstitutes ...
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 ...
Does lsd affect height growth in a growing teen - Does lsd affect height growth in a growing teen? No. two-thirds of the existing in vitro studies have reported some degree of increased chromosomal breakage following exposure to illicit or pure lsd. With one exception, these changes were observed with concentrations of lsd and durations of exposure that far exceeded the dosages commonly used in humans. In none of the studies was there a clear dosage-response relationship.
Note: Only deletions with sequenced breakpoints are included. Reported deletion junctions may be approximate due to the presence identical repeat sequences at the break points. Alternate junctions may be reported in the cited literature due to the inherent ambiguities of the direct repeats. Other reports of multiple deletions mapped within an individual have been published without specific sequence data for the deletion breakpoints. ...
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Thats a good first step. Now you need to convert that energy into a change in temperature. To do this, you need to find the mass of a typical cell nucleus by finding the volume and assuming it has the same density as water (typically a good assumption when working with cells ...
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Sigma-Aldrich offers abstracts and full-text articles by [Shee, C; Cox, BD; Gu, F; Luengas, EM; Joshi, MC; Chiu, LY; Magnan, D; Halliday et al.].
Inversion Definition - In yoga, an inversion refers to poses in which the yogis heart is at a higher level than the head. Not all inversion poses...
Acne. I know Im not the only one who considers it the bane of their existence sometimes. When you break out (or at least when I break out) you tend to blame
Chromosome 9 inversion is when there are two breaks on chromosome 9. The segment between the breakpoints flips around and reinserts back into the same place on chromosome 9. If both breaks occur in the same arm of the chromosome, this is called a paracentric inversion. If one break occurs in the short arm and the other in the long arm of the chromosome, then this is called a pericentric inversion. Chromosome 9 inversions commonly occur as a pericentric inversion ...
These enzymes have several functions: to remove DNA supercoils during transcription and DNA replication; for strand breakage ... separating the DNA of daughter chromosomes after DNA replication, and relax DNA. ... during recombination; for chromosome condensation; and to disentangle intertwined DNA during mitosis. This domain assumes a ...
"Chromosome breakage after G2 checkpoint release". J. Cell Biol. 176 (6): 749-55. doi:10.1083/jcb.200612047. PMC 2064048 . PMID ... The intervening DNA between the V and D segments is ligated to form a circular DNA molecule that is lost from the chromosome. ... before the V and D segments are ligated to restore the integrity of the chromosome. The exact site of cleavage of the hairpin ... and they show a higher incidence of chromosome breaks following irradiation. Direct measurement of DSBs by pulsed-field ...
McClintock observed the breakage and fusion of chromosomes in irradiated maize cells. She was also able to show that, in some ... Through her work with X-ray-mutagenized maize, she identified ring chromosomes, which form when the ends of a single chromosome ... and that the movement of Ds is accompanied by the breakage of the chromosome.[48] When Ds moves, the aleurone-color gene is ... spontaneous chromosome breakage occurred in the cells of the endosperm. Over the course of mitosis, she observed that the ends ...
Arlt, MF; Glover, TW (Jun 4, 2010). "Inhibition of topoisomerase I prevents chromosome breakage at common fragile sites". DNA ... "An AT-Rich Sequence in Human Common Fragile Site FRA16D Causes Fork Stalling and Chromosome Breakage in S. cerevisiae". ... The majority of breakages at CFSs are induced by low doses of the antibiotic aphidocilin (APH). Co-treatment with low ... Breakage is reduced after treatment with CPT (camptothecin) (without APH), signifying that CPT also has a necessary role in ...
In humans, a chromosome breakage syndrome characterized by severe lung disease in early childhood is associated with a mutation ... "Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease". J. Clin. Invest. 126 (8): 2881-92 ... Structural maintenance of chromosomes protein 6 is a protein that in humans is encoded by the SMC6 gene. It is involved in the ... Patient's cells display chromosome rearrangements, micronuclei, sensitivity to DNA damage and defective homologous ...
An inversion occurs when a single chromosome undergoes breakage and rearrangement within itself. Inversions are of two types: ... Painter TS (1933). "A new method for the study of chromosome rearrangements and the plotting of chromosome maps". Science. 78 ( ... An inversion is a chromosome rearrangement in which a segment of a chromosome is reversed end to end. ... In insects with polytene chromosomes, for example Drosophila, preparations of larval salivary gland chromosomes allow ...
Additionally, illegitimate recombinations may also result in dicentric chromosomes lead to chromosome breakage during anaphase ... However, when multiple copies of similar chromosomes are present in the nucleus, homeologous chromosomes can also pair with ... 2. Maintain intra-genomic chromosome pairing at meiosis: Chromosome pairing during meiosis is a significant challenge for ... Since the chromosomes may differ in genetic structure and content, segments of the chromosome may be shuffled around resulting ...
1993). "Targeted breakage of a human chromosome mediated by cloned human telomeric DNA". Nat. Genet. 2 (4): 283-7. doi:10.1038/ ...
DMs are thought to be produced through breakages in chromosomes or overreplication of DNA in an organism. Studies show that in ... There is only one region of the mitochondrial chromosome that does not contain a coding sequence and that is the 1 kb region ... Double minute chromosomes (DMs) are also extrachromosomal elements that are associated with genome instability. DMs are ... Most DNA in an individual genome is found in chromosomes but DNA found outside the nucleus also serves important biological ...
"Telomere-associated chromosome breakage in fission yeast results in variegated expression of adjacent genes". EMBO J. 13: 3801 ... "A fission yeast chromosome can replicate autonomously in mouse cells". Cell. 50: 391. 1987. PMID 3475186. "Introduction of ... "Live analysis of lagging chromosomes during anaphase and their effect on spindle elongation rate in fission yeast". J Cell Sci ... "Sim4: a novel fission yeast kinetochore protein required for centromeric silencing and chromosome segregation". J Cell Biol. ...
"Synthesis of Desoxyribonucleic Acid in Normal and Irradiated Cells and Its Relation to Chromosome Breakage". International ...
"Synthesis of deoxyribonucleic acid in normal and irradiated cells and its relation to chromosome breakage". Heredity. 6 (Suppl ... Her Ph.D. thesis was The correlation between chromosome behaviour and susceptibility to mammary gland cancer in mice (1938), ... Phosphorus-32 made it impossible to obtain an autoradiograph localized down to individual chromosomes and parts of chromosomes ... "the idea that chromosomes are made of DNA was generally agreed on." On her first day, she suggested to Stephen Pelc that ...
"Nondisjunction of a single chromosome leads to breakage and activation of DNA damage checkpoint in G2". PLOS Genetics. 8 (2): ... or if the normal number of chromosomes is restored via duplication of the single monosomic chromosome ("chromosome rescue"). ... Gaining a single chromosome, in which the daughter cell(s) with the defect will have one chromosome in addition to its pairs is ... The extra Y chromosome is usually a result of nondisjunction during paternal meiosis II. Trisomy X is a form of sex chromosome ...
"Regulation of endonuclease activity by proteolysis prevents breakage of unmodified bacterial chromosomes by type I restriction ...
Two other well-known means of double-strand breakage repair are non-homologous end joining and homologous recombination. MMEJ ... Thus, MMEJ is frequently associated with chromosome abnormalities such as deletions, translocations, inversions and other ... only way of identifying if the two strands are related is based on microhomology down/upstream from the site of breakage, it ...
... and there are increases in chromosome breakage and rearrangements compared to persons who do not have Bloom's syndrome. Direct ... Other chromosome manifestations include chromatid breaks and gaps, telomere associations, and fragmented chromosomes. The hyper ... the chromosomes are duplicated so that each new cell will get a complete set of chromosomes. The duplication process is called ... At the level of the chromosomes, the rate of sister chromatid exchange in Bloom's syndrome is approximately 10 fold higher than ...
... producing translocation and deletion of part of a chromosome. Alkylating agents like mustard gas may also cause breakages in ... While changes to the chromosome caused by X-ray and mustard gas were readily observable to the early researchers, other changes ... Interstrand cross-linking is more damaging as it blocks replication and transcription and can cause chromosomal breakages and ... Double-stranded breakages are especially damaging and hard to repair, ...
... this usually happens as a result of a chromosome breakage event and the formed centromere is called a neocentromere. Centric ... the domain exists on both mitotic and interphase chromosomes. Centric heterochromatin is usually formed on alpha satellite DNA ...
She identified a particular chromosome breakage event that always occurred at the same locus on maize chromosome 9, which she ... The great apes have 48 chromosomes. Human chromosome 2 was formed by a merger of ancestral chromosomes, reducing the number. ... The routine chromosome analysis (Karyotyping) refers to analysis of metaphase chromosomes which have been banded using trypsin ... A female with only one X chromosome has Turner syndrome, whereas an additional X chromosome in a male, resulting in 47 total ...
"Synthesis of deoxyribonucleic acid in normal and irradiated cells and its relation to chromosome breakage". Heredity. 6 (Suppl ... The correlation between chromosome behaviour and susceptibility to mammary gland cancer in mice (1938). ... Her Ph.D. thesis was The correlation between chromosome behaviour and susceptibility to mammary gland cancer in mice (1938), ... Phosphorus-32 made it impossible to obtain an autoradiograph localized down to individual chromosomes and parts of chromosomes. ...
Girdham CH, Glover DM (1991). "Chromosome tangling and breakage at anaphase result from mutations in lodestar, a Drosophila ... 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. doi:10.1038/nature04727 ...
Cells with defective chromosome segregation will form micronuclei which contain whole chromosomes or fragments of chromosomes. ... The Micronuclei model is the most accepted model as to how and when the breakage and repair in chromothripsis occurs. In cancer ... The resulting fragmented chromosome segments can be joined together to give rise to a rearranged chromosome, which can ... When multiple chromosomes are involved in chromothripsis, fragments of both chromosomes are joined together by paired end ...
In part because chromosomes may be very large, segments in the middle may act as if their ends are anchored. As a result, they ... and cannot be altered without strand breakage. The topology of the DNA is described by the equation below in which the linking ... Such a chromosome will be strained, just as a macroscopic metal spring is strained when it is either overwound or unwound. In ... L k = T w + W r {\displaystyle Lk=Tw+Wr} Tw, called "twist", refers to the number of Watson-Crick twists in the chromosome when ...
The human P4HB gene is localized in chromosome 17q25. Unlike other prolyl 4-hydroxylase family proteins, this protein is ... This enzyme is also a disulfide isomerase containing two thioredoxin domains that catalyze the formation, breakage and ... multifunctional and acts as an oxidoreductase for disulfide formation, breakage, and isomerization. The activity of P4HB is ...
McClintock studied transposon-mediated mutation and chromosome breakage in maize and published her first report in 1948 on ... 1913: Alfred Sturtevant makes the first genetic map of a chromosome 1913: Gene maps show chromosomes containing linear arranged ... Sutton's work with grasshoppers showed that chromosomes occur in matched pairs of maternal and paternal chromosomes which ... see the chromosome theory. Boveri was studying sea urchins when he found that all the chromosomes in the sea urchins had to be ...
This condition is inherited in an autosomal dominant pattern, as a result of mutations on chromosome 4q21, in the dentine ... Consequently, teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect ...
For example, Down syndrome happens when there are three copies of chromosome #21. (Usually people have 2 of every chromosome.) ... of those using condoms reported failure through slipping or breakage.[34] The Guttmacher Institute estimated that "most ... When a human is conceived, it gets 23 chromosomes from its mother and 23 from its father. If it does not get the right number ... Most embryos and fetuses with chromosome problems will not live for a long time. They die very early. There are a few ...
... , a DNA damage response protein, has a crucial role in meiotic sex chromosome silencing. TOPBP1 has been shown to ... suggests a supportive role for this protein in the catalytic reactions of topoisomerase II beta through transient breakages of ... In mammals, surveillance mechanisms remove meiotic cells in which chromosome synapsis is defective. One such surveillance ... "DNA damage response protein TOPBP1 regulates X chromosome silencing in the mammalian germ line". Proc. Natl. Acad. Sci. U.S.A. ...
This research shows that the region of chromosome 9 that contains the FXN locus is intrinsically prone to breakage in vivo even ... This chromosome fragility involves the generation of chromosome/chromatid gaps or breaks, or the high frequency loss of one or ... Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia Details Written by Jen Farmer Category: Scientific ... Other repeat diseases, like Fragile X Syndrome (FXS) have been shown to have chromosome fragility. This has not been previously ...
... and telomeres are added at chromosome breakage sites (CBS). The aim of this research was to investigate NER in T. thermophila ... and telomeres are added at chromosome breakage sites (CBS). The aim of this research was to investigate NER in T. thermophila ...
To cause genomic instability particularly at chromosome loci that are intrinsically difficult to replicate because of the ... These results suggest that pericentromeric regions are refractory to prompt repair after replication stress-induced breakage in ... This is because all intact/ normal human chrom.To cause genomic instability particularly at chromosome loci that are ... To cause genomic instability particularly at chromosome loci that are intrinsically difficult to replicate because of the ...
... cell variants does not correlate with sensitivity to DNA single strand breakage by hydrogen peroxide. ... Chromosomes are large polymer molecules composed of nucleotides.. duzela m 20 white pill ...
Two theories for the juxta-position of DSBs in translocations, the static contact-first and the dynamic breakage-first ... Dynamics of DNA Double-Strand Breaks Revealed by Clustering of Damaged Chromosome Domains Science. 2004 Jan 2;303(5654):92-5. ... To determine whether or not DSB-containing chromosome domains are mobile and can interact, we introduced linear tracks of DSBs ... Two theories for the juxta-position of DSBs in translocations, the static "contact-first" and the dynamic "breakage-first" ...
But at Cold Spring Harbor, she began the studies of the consequence of dicentric chromosome formation and breakage that led her ... Broken Chromosomes and Telomeres (E.H. Blackburn); Maize Transposable Elements: A Story in Four Parts (N.V. Fedoroff). ... Chromosome Organization and Genic Expression. Insertion by Phages and Transposons (A. Campbell); Cold Spring Harbor 1944-1955: ... McClintocks unique ability to discern relationships between the behavior of chromosomes and the properties of the whole ...
... increased chromosome breakage) and defective DNA repair. MalaCards based summary : Fanconi Anemia, Complementation Group T, ... maternal uniparental disomy of chromosome 16 9.7. SLX4 FANCA 5. fanconi anemia, complementation group l 9.6. UBE2T FANCL FANCI ... 12 A Fanconi anemia that has material basis in compound heterozygous mutation in the UBE2T gene on chromosome 1q32. OMIM : 56 ...
... degeneration Lymphoproliferative disorder Abnormality of the testis B-cell lymphoma Recurrent bronchitis Chromosome breakage ... Genetically, chromophobe RCC is characterized by a combination of loss of heterozygosity of chromosomes 1, 2, 6, 10, 13, 17, ... for a discussion of renal cell carcinoma associated with translocations of chromosome Xp11.2 involving the TFE3 gene (OMIM ). ... of renal cell neoplasms and is characterized genetically by a highly specific deletion of chromosome 3p. Papillary renal cell ...
The extent of breakage of DNA was shown to be the same in mitogen-stimulated and unstimulated lymphocytes from two breeds of ... The sex chromosomes of frogs: variability and tolerance offer clues to genome evolution and function. Turbidimetrical ... Lysosomal chitobiase (CTB) and the G-protein gamma 5 subunit (GNG5) genes co-localize to human chromosome 1p22. The third mass ...
Therefore, it is not exceptional to find that at least one member of duplicated chromosome pairs have terminal breakages/ ... Dot Map between Chromosomes R11 and R12.. Highly similar strings, reflected by dots in the figure, from two chromosomes were ... Rice Chromosomes 11 and 12 Sequencing Consortia (2005). The sequence of rice chromosomes 11 and 12, rice in disease resistance ... Supplemental Data Set 1A. Alignment of Genes on Rice Chromosomes 11 and 12 and Their Respective Homologous Chromosomes or ...
A zelitrex vs valtrex cost 37-marker PCR-based genetic linkage map of human chromosome 9: observations on mutations and ... to DNA modified by dimethyl sulfate before and after depurination and strand breakage. ...
The organization of chromosomes into euchromatin and heterochromatin is one of the most enigmatic aspects of genome evolution. ... The clinical implications of the suture breakages are unknown although they may be related to distal secondary leakage in tube ...
Adeno-associated virus vectors integrate at chromosome breakage sites. Nat Genet. 2004;36: 767-773. doi: 10.1038/ng1380 ... Článek The derived allele of a novel intergenic variant at chromosome 11 associates with lower body mass index and a favorable ... The derived allele of a novel intergenic variant at chromosome 11 associates with lower body mass index and a favorable ... H2AX prevents DNA breaks from progressing to chromosome breaks and translocations. Mol Cell. 2006;21: 201-214. doi: 10.1016/j. ...
ABNORMALITIES OF CHROMOSOME BUILDING Abnormalities of chromosome form usually arise when there is a breakage and detriment of a ... br /, ABNORMALITIES OF CHROMOSOME BUILDING Abnormalities of chromosome form usually arise when there is a breakage and ... detriment of a portion of one or more chromosomes, and during the repair approach the infringed ends are rejoined incorrectly. ... portion of one or more chromosomes, and during the repair approach the infringed ends are rejoined incorrectly. Besides, ...
This course presents classical non-Mendelian phenomena, including analysis of chromosome breakage, transposition, imprinting ...
The classical Chromosomal breakage study involves detection of chromosomal breakage or aberrations (breaks, gaps, ... This case provides evidence of the importance of chromosome 22, in the etiology of the disease. ... Conclusion: A significant increase in chromosomal breakages was seen in 13.1% patients. The survival data documented for 100 ... Respective age and sex matched healthy controls were also processed for chromosomal breakage study. Patients habitat, clinical ...
Syndromes with Increased Chromosome Breakage. Biopsy Source Unspecified Cell Type Fibroblast Tissue Type Skin ...
Results: Calyculin A induced premature chromosome condensation in cells immediately after irradiation. Kinetics of rejoining of ... rapid and precise analysis of chromatid breakage and rejoining. The rapid kinetic component was particularly well characterized ... Results: Calyculin A induced premature chromosome condensation in cells immediately after irradiation. Kinetics of rejoining of ... Results: Calyculin A induced premature chromosome condensation in cells immediately after irradiation. Kinetics of rejoining of ...
There was one case of breakage of internal fixation in the IMN group.. ConclusionsThere was no significant difference between ... Classical Hodgkin lymphoma (cHL) has been identified with universal genetic alterations of chromosome 9p24.1, which contains PD ... In addition, we demonstrate that 24-chromosome CNV profiling can be performed reliably from specific cell types (,100 cells) ...
A Postincision-Deficient TFIIH Causes Replication Fork Breakage and Uncovers Alternative Rad51- or Pol32-Mediated Restart ... DNA replication initiates at defined replication origins along eukaryotic chromosomes, ensuring complete genome duplication ... that maintains integration of these elements in the bacterial chromosome. After infection or induction of a resident helper... ...
Detection of Y chromosome microdeletions by PCR. *Sperm apoptosis by TUNEL method ... Chromosomal breakage studies. *Detection of low grade mosaicism. *Microdeletion detection by FISH ...
Chromosome breakage Partial Deletion heterozygote- when there is 1. Genetics BIOL 3301 Genetics (Graduate Group) Spring 2017 ...
Set comes in fitted plastic storage box to prevent breakage and ease handling ... 90.Chromosome tsa WM batho. 41.Simple squamous epithelium set lao.. 91.Meiosis tsa lerutle set lao.. ... Slides are composed of optical glass for clear viewing Set comes in fitted plastic storage box to prevent breakage and ease ...
non-distal tetrasomy 15q, see isodicentric chromosome 15 syndrome. *non-familial hemiplegic migraine, see sporadic hemiplegic ... Nijmegen breakage syndrome. *NK-AML, see cytogenetically normal acute myeloid leukemia. *NKH, see glycine encephalopathy ...
Telomeres are sequences of repeated DNA that cap the ends of chromosomes, and a little of that length is lost with each cell ... This leads to many of the varieties of cardiovascular disease, including an increased rate of breakage of tiny blood vessels in ...
  • This research shows that the region of chromosome 9 that contains the FXN locus is intrinsically prone to breakage in vivo even in control cells. (curefa.org)
  • The diploid number found was of 56 chromosomes. (scielo.br)
  • Meiosis is a specialized form of cell division which generates mature haploid gametes, or sex cells, with exactly half the number of chromosomes and genetically distinct from the diploid primordial germ cells from which they are produced. (edu.au)
  • Comparison of rice ( Oryza sativa ), sorghum ( Sorghum bicolor ), maize ( Zea mays ), and Brachypodium distachyon genomes revealed that one paleo-duplicated chromosome pair has experienced very different evolution than all the others. (plantcell.org)
  • Conclusions: Chemically induced premature chromosome condensation technique allows a simple, rapid and precise analysis of chromatid breakage and rejoining. (elsevier.com)
  • Gotoh, E, Kawata, T & Durante, M 1999, ' Chromatid break rejoining and exchange aberration formation following γ-ray exposure: Analysis in G 2 human fibroblasts by chemically induced premature chromosome condensation ', International Journal of Radiation Biology , vol. 75, no. 9, pp. 1129-1135. (elsevier.com)
  • Mutations in DNA polymerase alpha, leading to increased chromosome breakage, may be responsible for the syndrome. (cdc.gov)
  • joint a clinicians guide to statistics and epidemiology in mental health measuring truth and is grown aimed out for ovine thousand measurements without the gene of protein through claim breakage and expression alcohol. (mid-southrealty.com)
  • also discovered and named chromatin, the complex of DNA, RNA and protein that make up a chromosome. (edu.au)
  • It's the same for a cell - just before it divides, it recruits protein complexes that repair breakage that may have occurred along the linear DNA chains making up your 46 chromosomes. (salk.edu)
  • In principle, its resulted from the deregulation of UBE3A gene located on chromosome 15. (abnova.com)
  • For tens of millions of years, the two chromosomes have experienced illegitimate recombination that has been temporally restricted in a stepwise manner, producing structural stratification in the chromosomes. (plantcell.org)
  • In the absence of a rat metabolising system, its potential to induced chromosome damage, or damage to the cell division apparatus remained equivocal. (europa.eu)
  • Pancentromere staining determined whether the DNA damage is clastogenic (chromosome breakage) or aneugenic (whole chromosome gain or loss). (cdc.gov)
  • Now, in a study published in the Nov. 17 issue of Cell, that same team led by Jan Karlseder , Ph.D, Hearst Endowment Assistant Professor in the Molecular and Cell Biology Laboratory, reveals why those repair crews are parked at the ends of chromosomes and in doing so answer fundamental questions about how chromosomal stability is maintained. (salk.edu)
  • Los cambios en la histoarquitectura de los testículos y la epidermis de la cauda se evaluaron mediante Hematoxilina y Eosina para determinar la estructura general, con tricrómicro de Masson para el colágeno, ácido periódico de Schiff para la membrana basal y la caspasa-3 y el antígeno nuclear de células proliferantes (PCNA) para análisis inmunohistoquímico. (bvsalud.org)
  • The discovery and initial characterization 20 years ago of antinuclear autoantibodies (ANAs) presenting a dense fine speckled (DFS) nuclear pattern with strong staining of mitotic chromosomes, detected by indi. (biomedcentral.com)
  • The repetitive [GATA] n sequence was dispersed, with preferential location in terminal region of the chromosomes. (scielo.br)
  • No significant differences were found between the three worker groups, but breakage levels in all three groups were significantly increased over levels in the nonindustrial controls. (cdc.gov)
  • These elements are found primarily in the telomeric regions of the chromosomes, and only rarely in gene-rich regions. (asmblog.org)
  • That there were no significant differences in chromosome breakage between the three industrial categories with differences in exposure is considered to imply the presence of agents other than vinyl- chloride monomer capable of inducing chromosome breaks. (cdc.gov)