A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
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)
Any method used for determining the location of and relative distances between genes on a chromosome.
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
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.)
A species of ciliate protozoa used in genetic and cytological research.
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.
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)
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.
Actual loss of portion of a chromosome.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
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)
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
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)
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.
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.
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).
Mapping of the KARYOTYPE of a cell.
A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.
The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.
Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.
A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
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.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
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.
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.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
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.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
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.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
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.
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.
Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
The complete genetic complement contained in a set of CHROMOSOMES in a protozoan.
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
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.
The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
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.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
The alignment of CHROMOSOMES at homologous sequences.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
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.
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.
Deoxyribonucleic acid that makes up the genetic material of protozoa.
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
A plant species of the family POACEAE. It is a tall grass grown for its EDIBLE GRAIN, corn, used as food and animal FODDER.
The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
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.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
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.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
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.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.
The 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.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
The process by which a DNA molecule is duplicated.
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.
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.
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.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
Aberrant chromosomes with no ends, i.e., circular.
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.
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.
The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.
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.
The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.
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.
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.
Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.
The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.
Structures within the CELL NUCLEUS of insect cells containing DNA.
Established cell cultures that have the potential to propagate indefinitely.
Structures which are contained in or part of CHROMOSOMES.
The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.
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.
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.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
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.
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
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).
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
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.
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.
Interruptions in the sugar-phosphate backbone of DNA.
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)
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)
A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.
The possession of a third chromosome of any one type in an otherwise diploid cell.
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.
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.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
The 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.
DNA constructs that are composed of, at least, all elements, such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, required for successful replication, propagation to and maintainance in progeny human cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.
Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.
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.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
Failure of equipment to perform to standard. The failure may be due to defects or improper use.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
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.
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).
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
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.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
Genetic loci associated with a QUANTITATIVE TRAIT.
The interval between two successive CELL DIVISIONS during which the CHROMOSOMES are not individually distinguishable. It is composed of the G phases (G1 PHASE; G0 PHASE; G2 PHASE) and S PHASE (when DNA replication occurs).
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
The genetic constitution of 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.
An individual having different alleles at one or more loci regarding a specific character.
An aberration in which an extra chromosome or a chromosomal segment is made.
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.
A characteristic symptom complex.
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.
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.
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
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.
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.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
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.
The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.
Genes that influence the PHENOTYPE only in the homozygous state.
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.
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 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.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.
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.
Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.
Genotypic differences observed among individuals in a population.
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)
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 present in neoplastic tissue.
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.
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.
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.
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.
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
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.
Deoxyribonucleic acid that makes up the genetic material of fungi.
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.
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)
Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.
Interruptions in the sugar-phosphate backbone of DNA, across both strands adjacently.
An individual in which both alleles at a given locus are identical.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
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.
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.
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).
The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
Male germ cells derived from SPERMATOGONIA. The euploid primary spermatocytes undergo MEIOSIS and give rise to the haploid secondary spermatocytes which in turn give rise to SPERMATIDS.
Genes that are located on the X CHROMOSOME.
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.
An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.
A subfamily in the family MURIDAE, comprising the hamsters. Four of the more common genera are Cricetus, CRICETULUS; MESOCRICETUS; and PHODOPUS.
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.
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.
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.
Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
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.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
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)
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.
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.
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).
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.
PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.
Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.
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.
Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.
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.
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.
The degree of replication of the chromosome set in the karyotype.
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).
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
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.
The relationships of groups of organisms as reflected by their genetic makeup.
A complex of related glycopeptide antibiotics from Streptomyces verticillus consisting of bleomycin A2 and B2. It inhibits DNA metabolism and is used as an antineoplastic, especially for solid tumors.

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)

Cells lacking ATM exhibited a slightly increased number of chromosomal breaks in untreated cells compared to VA13 . On the other hand, oxLDL SB-742457 cost kinase inhibitor drastically enhanced chromosomal breaks in each cell lines. In VA13 cells, the quantity of chromosomal breaks following 8 h greater up to thirty. In AT22 cells the quantity of chromosomal breaks improved as much as 42. Fig. 6B even further displays that the variety of oxLDL induced chromosomal breaks in AT22 cells are significantly higher when in contrast to VA13 cells. Treatment method of VA13 and AT22 cells with LDL was without results on chromosomal breaks when compared to untreated cells . three.5. PDTC scavenges oxLDL induced elevated ROS ranges in the T cells ATM deficient cells are inside a consistent state of oxidative pressure and might possibly exhibit diminished antioxidant capability . We demonstrate that AT22 cells exhibited approx. one.five fold higher ROS amounts when compared to VA13 cells . Incubation of ...
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.. ...
Mutations stimulate evolutionary change and lead to birth defects and cancer in humans as well as to antibiotic resistance in bacteria. According to the classic view, most mutations arise in dividing cells and result from uncorrected errors of S-phase DNA replication, which is highly accurate becaus …
In order to fragment deoxyribonucleic acid (DNA)in a random manner, a variety of methods involving the mechanical breakage of DNA have been employed
Genomes undergo large structural changes that alter their organisation. The chromosomal regions affected by these rearrangements are called breakpoints, while those which have not been rearranged are called synteny blocks. We developed a method to precisely delimit rearrangement breakpoints on a genome by comparison with the genome of a related species. Contrary to current methods which search for synteny blocks and simply return what remains in the genome as breakpoints, we propose to go further and to investigate the breakpoints themselves in order to refine them. Given some reliable and non overlapping synteny blocks, the core of the method consists in refining the regions that are not contained in them. By aligning each breakpoint sequence against its specific orthologous sequences in the other species, we can look for weak similarities inside the breakpoint, thus extending the synteny blocks and narrowing the breakpoints. The identification of the narrowed breakpoints relies on a segmentation
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 ...
Collect specimen in a green top tube (sodium heparin). Send 20 mL (minimum 3 mL) intact specimen at room temperature. Skin biopsy specimens are also acceptable. Specimens are accepted by MLabs Monday, Wednesday, and Thursday only (specimen must be received by MLabs by 6:00 pm). Specimen must be accompanied by a Dana Farber consent form (available from Central Distribution Sendouts) signed by the ordering physician.. ...
The increased spontaneous chromosomal breaks in the right colon, as opposed to the increased mutagen-induced chromosomal breaks in the left colon, might indicate that in young colon cancer patients the occurrence of right-sided colon cancer is more likely to be genetically determined, whereas in lef …
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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Find all books from A.B. Harris - Breakpoint: Stress and the Crisis of Modern Living. At find-more-books.com you can find used, antique and new books, COMPARE results and immediately PURCHASE your selection at the best price. 0855000937
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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Large-scale genome rearrangements brought about by chromosome breaks underlie numerous inherited diseases, initiate or promote many cancers and are also associated with karyotype diversification during species evolution. Recent research has shown that these breakpoints are nonrandomly distributed throughout the mammalian genome and many, termed evolutionary breakpoints (EB), are specific genomic locations that are reused during karyotypic evolution. When the phylogenetic trajectory of orthologous chromosome segments is considered, many of these EB are coincident with ancient centromere activity as well as new centromere formation. While EB have been characterized as repeat-rich regions, it has not been determined whether specific sequences have been retained during evolution that would indicate previous centromere activity or a propensity for new centromere formation. Likewise, the conservation of specific sequence motifs or classes at EBs among divergent mammalian taxa has not been determined. To
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 2021 ICD-10-CM C82.26 - 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
...MEDFORD/SOMERVILLE Mass. In the past ten years researchers in genom...In a Tufts University study published in the Aug. 3 journal Molecular...Catherine Freudenreich associate professor of biology at the School o... It is an area that has a tumor suppressor gene a gene whose absence ...,Biologists,at,Tufts,University,discover,1,reason,why,chromosomes,break,,often,leading,to,cancer,biological,biology news articles,biology news today,latest biology news,current biology news,biology newsletters
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 ...
Of nine studies in vitro, six have indicated some degree of induced chromosomal breakage after exposure to LSD; three failed to confirm these results. The damage, when found, was generally of the chromatid type, arising during or after DNA synthesis. This damage, with one exception, was the result of concentrations of drug and durations of exposure which could not be achieved in humans with reasonable dosages. There did not appear to be a dose-response relation. The magnitude of damage, when found, was in the range encompassing the effects of many commonly used substances. The absence in vitro of excretory and detoxifying systems present in vivo, as well as several negative reports, cast doubt on the relevance of in vitro results.. In 21 chromosomal studies in vivo, 310 subjects were examined. Of these, 126 were treated with pure LSD; the other 184 were exposed to illicit, alleged LSD. A maximum of only 18 of 126 (14.29 percent) of the subjects in the group exposed to pure LSD showed higher ...
If you are losing hair, the first thing you need to do is to determine whether your hair is breaking or shedding. To do this, read this post, Understanding the difference between hair shedding and breakage.. What is hair breakage? A little hair breakage is inevitable but at what level of breakage would you consider it to be an issue? To classify levels of breakage, I think that it would depend on whether it is a wash day or not. Im making the assumption that you are manipulating your hair as carefully as possible. If you are not, that could be your reason for breakage.. Disclaimer: my classification for breakage is not based on any text. Its just from my personal experience.. Mild breakage:. ...
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 ...
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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 ...
Fluoride 1977; 10(4): 157-164. Cytogenetic effects of hydrogen fluoride gas on maize. AH Mohamed. Department of Biology, University of Missouri, Kansas City. SUMMARY: Maize seedlings of the genotype C I Sh Wx were fumigated with hydrogen fluoride gas (HF) continuously for 4, 6, 8 and 10 days. Miscrospore mitosis of the treated plants indicated the presence of fragments and bridges suggesting the occurrence of the phenomenon of breakage-fusion-bridge cycle of McClintock. This phenomenon was later confirmed by the production of endosperm mosaicisms. The period of fumigation was clearly related to the extent of the area resulting from the B-F-B cycle. Recombination values were estimated from F2 data for the regions C-sh and sh-wx. There was a significant increase in the frequency of crossing over for region I with maximum increase being for the 4 days duration. The recombination value for region II showed no significant deviation from the control. These findings indicate that HF in addition to ...
The human and chimpanzee genomes are distinguishable in terms of ten gross karyotypic differences including nine pericentric inversions and a chromosomal fusion. Seven of these large pericentric inversions are chimpanzee-specific whereas two of them, involving human chromosomes 1 and 18, were fixed in the human lineage after the divergence of humans and chimpanzees. We have performed detailed molecular and computational characterization of the breakpoint regions of the human-specific inversion of chromosome 1. FISH analysis and sequence comparisons together revealed that the pericentromeric region of HSA 1 contains numerous segmental duplications that display a high degree of sequence similarity between both chromosomal arms. Detailed analysis of these regions has allowed us to refine the p-arm breakpoint region to a 154.2 kb interval at 1p11.2 and the q-arm breakpoint region to a 562.6 kb interval at 1q21.1. Both breakpoint regions contain human-specific segmental duplications arranged in ...
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
1. Stephens PJ, Greenman CD, Fu B et al. Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell 2011; 144 (1): 27-40. doi: 10.1016/j.cell.2010.11.055.. 2. Kloosterman WP, Koster J, Molenaar JJ. Prevalence and clinical implications of chromothripsis in cancer genomes. Curr Opin Oncol 2014; 26 (1): 64-72. doi: 10.1097/CCO.0000000000000038.. 3. Kloosterman WP, Guryev V, van Roosmalen M et al. Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline. Hum Mol Genet 2011; 20 (10): 1916-1924. doi: 10.1093/hmg/ ddr073.. 4. de Pagter MS, van Roosmalen MJ, Baas AF et al. Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring. Am J Hum Genet 2015; 96 (4): 651-656. doi: 10.1016/j.ajhg.2015.02.005.. 5. Rausch T, Jones DT, Zapatka M et al. Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 ...
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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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 ...
In mice models, mutations in the Nbs1 subunit of MRN alone (producing the phenotypic analog of Nijmegen Breakage Syndrome in ... Telomeres maintain the integrity of the ends of linear chromosomes during replication and protect them from being recognized as ... Williams, BR; Mirzoeva, OK; Morgan, WF; Lin, J; Dunnick, W; Petrini, JH (16 April 2002). "A murine model of Nijmegen breakage ... Varon R, Demuth I, Chrzanowska KH (1993). "Nijmegen Breakage Syndrome". GeneReviews. PMID 20301355. Taylor AM, Rothblum-Oviatt ...
"Chromosome breakage after G2 checkpoint release" (PDF). J. Cell Biol. 176 (6): 749-55. doi:10.1083/jcb.200612047. PMC 2064048. ... 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 ...
Meselson, M.; Weigle, J. (1961). "Chromosome Breakage Accompanying Genetic Recombination in Bacteriophage". Proceedings of the ... The question was whether such recombination involved breakage of the recombining DNA molecules or cooperative synthesis of new ... Meselson's initial demonstration of breakage-associated, replication-independent recombination was later found to reflect the ... normally used by the phage to insert itself into the chromosome of a host cell. Subsequently, variations of the experiment by ...
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 ...
Chromosome breakage and complete genic mutation production in molecular terms. Mutation Res., v. 8, pp. 353-365. (In English); ... Molecular mechanisms of the origin of chromosome aberrations and the structural organization of eukaryotic DNA. Theor. Appl. ...
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. The SMC6 was ... In yeast, SMC5/6 complex has sub-units which consists of SMC5, SMC6 and six nonstructural maintenance of chromosomes (NSE) ...
"Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease". The Journal of Clinical ...
An inversion occurs when a single chromosome undergoes breakage and rearrangement within itself. Inversions are of two types: ... His height is caused by an inversion of chromosome 12. Painter TS (1933). "A new method for the study of chromosome ... 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 ... Since the chromosomes may differ in genetic structure and content, segments of the chromosome may be shuffled around resulting ... The resolution of these structures results in chromosome breakage, rearrangement, and gamete infertility. Diploidization is ... Maintain intra-genomic chromosome pairing at meiosis Chromosome pairing during meiosis is a significant challenge for ...
1993). "Targeted breakage of a human chromosome mediated by cloned human telomeric DNA". Nat. Genet. 2 (4): 283-7. doi:10.1038/ ...
... is a member of the structural maintenance of chromosomes (SMC) family of proteins. Like other SMC proteins, Rad50 ... 1998). "The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular ... Stracker TH, Theunissen JW, Morales M, Petrini JH (2005). "The Mre11 complex and the metabolism of chromosome breaks: the ... Cells from these patients showed increased radiosensitity with an impaired response to chromosome breaks. MRN complex ...
A clastogen is a mutagenic agent giving rise to or inducing disruption or breakages of chromosomes, leading to sections of the ... Micronuclei has been seen as a side product of clastogen activity or chromosome breakage. The micronucleus test is another type ... Clastogens (which break chromosomes) contribute to telomeric instability because it leads to chromosome end loss or true ... This is useful because an assay that can pick up clastogen activity can be used to foresee chromosome aberration activity. The ...
Nimmo, E. R; Cranston, G; Allshire, R. C (1994). "Telomere-associated chromosome breakage in fission yeast results in ... Allshire, R. C; Cranston, G; Gosden, J. R; Maule, J. C; Hastie, N. D; Fantes, P. A (1987). "A fission yeast chromosome can ... Pidoux, A. L; Uzawa, S; Perry, P. E; Cande, W. Z; Allshire, R. C (2000). "Live analysis of lagging chromosomes during anaphase ... Robin Campbell Allshire (born 19 May 1960) FRS FRSE FMedSci is Professor of Chromosome Biology at University of Edinburgh and a ...
"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 ...
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 ... By studying the morphology of the chromosomes, McClintock was able to link specific chromosome groups of traits that were ... spontaneous chromosome breakage occurred in the cells of the endosperm. Over the course of mitosis, she observed that the ends ...
"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 ...
AML-M4 with an inversion of chromosome 16 is caused by breakage and rearrangement within itself. Criteria for AMML is confirmed ... AML with a translocation or inversion is seen in different chromosomes. Specifically, AML with inversion in chromosome 16 also ... This type of arrest is still under study but in most cases, a gene inactivation or activation has occurred due to chromosome ...
... 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 ...
Another study using cells from human donors showed Bemethyl to be anticlastogenic (able to minimize chromosome breakages). ...
"Regulation of endonuclease activity by proteolysis prevents breakage of unmodified bacterial chromosomes by type I restriction ...
Bile acids cause DNA damage, including oxidative DNA damage, double-strand DNA breaks, aneuploidy and chromosome breakage. High ... suggesting that the purpose of the delay is to give the cell time to repair damaged chromosomes before continuing with the cell ... chromosome loss by replisome binding, replication stalling by transcription factors. The DDP human homologs are over- ... Chromosome Research. 27 (4): 345-364. doi:10.1007/s10577-019-09617-x. ISSN 0967-3849. PMC 7934912. Gasior, Stephen L.; Wakeman ...
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 ...
In 1999, he began doctoral studies researching chromosome breakage syndrome, fanconi anemia, gene mutations, and acute myeloid ...
... 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 ...
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 ...
Bridges arise from end-to-end chromosome fusions after DNA breakage or telomere crisis, incomplete DNA replication, or failed ... If the cell senses extra chromosomes, the cell can attempt to remove the extra chromosome in another cell membrane, separate ... This results in parts of the chromatids or chromosomes being broken off and enveloped as an extra nucleus in one of the ... It seems that they are easy to analyze compared to chromosome aberrations. Umbreit, Neil T.; Zhang, Cheng-Zhong; Lynch, Luke D ...
... 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 early researchers, other changes to ... Muller observed a number of chromosome rearrangements in his experiments, and suggested mutation as a cause of cancer. The ... Double-stranded breakages are especially damaging and hard to repair, ...
Chromosome abnormalities can also result causing a number of neurodevelopmental disorders such as fragile X syndrome and Rett ... Mutations in the gene NBS1 that codes for nibrin can cause Nijmegen breakage syndrome, characterised by microcephaly. Mutations ...
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 ...
... is used to pry large horizontal flakes of tea off the cake to minimize leaf breakage. Smaller cakes such as tuocha or mushroom ... This notion has recently been refuted through a systematic chromosome analysis of the species attributed to many East Asian ...
1996). "Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient". Hum. Mol. Genet. 5 (4): 517-24 ... 1996). "Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene". Nat. Genet. 14 (2): ... SNRPN-methylation is used to detect uniparental disomy of chromosome 15.[6] After fluorescent-in-situ-hybridization has ... Färber C, Dittrich B, Buiting K, Horsthemke B (1999). "The chromosome 15 imprinting centre (IC) region has undergone multiple ...
Another theory suggests the female high tendency to get autoimmunity is due to an imbalanced X chromosome inactivation.[15] The ... This breakage leads to the immune system's mounting an effective and specific immune response against self determinants. The ... Theory: High autoimmunity in females due to imbalanced X chromosome inactivation: [2] ... "Skewed X-chromosome Inactivation in Scleroderma". Clin Rev Allergy Immunol. 34 (3): 352-5. doi:10.1007/s12016-007-8044-z. PMC ...
Cells of affected individuals have reduced lifespan in culture,[18] more chromosome breaks and translocations[19] and extensive ... Nijmegen breakage syndrome, a rare autosomal recessive genetic disorder caused by defect(s) in the Double Holliday junction DNA ... Mouse cells deficient for maturation of prelamin A show increased DNA damage and chromosome aberrations and have increased ... deletions.[20] These DNA damages, chromosome aberrations and mutations may in turn cause more RecQ-independent aging phenotypes ...
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 ...
Ploidy/Chromosomes in human. DNA copy number/Chromatids in human. Process entered by cell. Duration ... as well as by un-programmed breakages in DNA, such as those caused by oxidative free radicals produced as products of normal ... Mutations in leptotene spermatocytes can result in premature chromosome condensation.[13]. Mutations in Mtap2, a microtubule- ... In the following table, ploidy, copy number and chromosome/chromatid counts listed are for a single cell, generally prior to ...
VHL results from a mutation in the von Hippel-Lindau tumor suppressor gene on chromosome 3p25.3. Xeroderma pigmentosum (XP) is ... Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M (2012). "Nijmegen breakage syndrome (NBS)". Orphanet J ... but FANCB can be inherited from the maternal or paternal x-chromosome (x-linked recessive inheritance). The FA pathway is ...
Unique banding patterns are used to identify chromosomes and to diagnose chromosomal aberrations, including chromosome breakage ... The karyotype of humans includes only 46 chromosomes.[15][16] The great apes have 48 chromosomes. Human chromosome 2 is now ... Chromosome abnormalitiesEdit. Main article: Chromosome abnormalities. Chromosome abnormalities can be numerical, as in the ... This would give rise to a chromosome abnormality such as an extra chromosome or one or more chromosomes lost. Abnormalities in ...
Prenatal diagnosis: Used to detect changes in a fetus's genes or chromosomes before birth. This type of testing is offered to ... spontaneous chromosomal breakage exacerbated by exposure to DNA cross-linking agents. ... In addition to studying chromosomes to the level of individual genes, genetic testing in a broader sense includes biochemical ... Genetic testing is "the analysis of chromosomes (DNA), proteins, and certain metabolites in order to detect heritable disease- ...
The genus is also known for its polyploidy, with some species having up to 12 sets of chromosomes. ... Nbs1 Nijmegen breakage syndrome, RecQL4 Rothmund-Thomson syndrome, c-Myc oncogene and FANC proteins (Fanconi anemia).[28][29][ ...
"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. ...
Berryman, Hugh, Postmortem breakage as a taphonomic tool for determining burial position (chapter 20), in Kennewick Man, The ... The same study confirmed the mitochondrial haplogroup X2a and the Y-chromosome haplogroup Q-M3 of Kennewick Man, both lineages ...
Chromosome instability syndromes are a group of disorders characterized by chromosomal instability and breakage. They often ... It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes. Chromosome mutation ... Acquired chromosome abnormalities[edit]. Most cancers, if not all, could cause chromosome abnormalities,[12] with either the ... A chromosome anomaly may be detected or confirmed in this manner. Chromosome anomalies usually occur when there is an error in ...
... mechanical problems from chromosomal breakage and exchange, mitotic loss of chromosomes (aneugenicity), and apoptosis. The ... Also, chromosomes' integrity may be altered through chromosome loss and clastogenic lesions causing multiple gene and ... The types of aberrations detected in cells affected by a genotoxic substance are chromatid and chromosome gaps, chromosome ... Regions sensitive to breakage, called fragile sites, may result from genotoxic agents (such as pesticides). Some chemicals have ...
A third locus has been mapped to the long arm of chromosome 1 (1q23) but no gene has yet been identified.[citation needed] ... Normal Conditions:[citation needed] TP53 is a tumor suppressor gene on chromosome 17 that normally assists in the control of ... Nijmegen breakage syndrome. Other. *RecQ helicase *Bloom syndrome. *Werner syndrome. *Rothmund-Thomson syndrome/Rapadilino ...
increased DNA damage and chromosome aberrations; progeria; aspects of premature aging; altered expression of numerous DNA ... "Nijmegen breakage syndrome (NBS)". Orphanet J Rare Dis. 7: 13. doi:10.1186/1750-1172-7-13. PMC 3314554. PMID 22373003.. ... increased DNA damage and chromosome aberrations, sensitivity to DNA-damaging agents and deficiency in homologous recombination[ ...
Prenatal diagnosis: Used to detect changes in a fetus's genes or chromosomes before birth. This type of testing is offered to ... spontaneous chromosomal breakage exacerbated by exposure to DNA cross-linking agents.. Fragile-X syndrome. Mental retardation ... In addition to studying chromosomes to the level of individual genes, genetic testing in a broader sense includes biochemical ... Genetic testing is "the analysis of chromosomes (DNA), proteins, and certain metabolites in order to detect heritable disease- ...
A study of nine modern carnivores indicate that one in four adults had suffered tooth breakage and that half of these breakages ... All species within Canis are phylogenetically closely related with 78 chromosomes and can potentially interbreed.[7] In 1926, ... The least breakage occurred in the African wild dog. The gray wolf ranked between these two.[31][33] The eating of bone ... Tooth breakage is a frequent result of carnivores' feeding behaviour.[31] Carnivores include both pack hunters and solitary ...
Such a breakage may occur because of formal or informal adoption, premarital or extramarital intercourse or rape, a woman ... King, Turi E.; Jobling, Mark A. (2009), "Founders, Drift, and Infidelity: The Relationship between Y Chromosome Diversity and ... genealogy the term non-paternity is often used in a wider context to indicate a break in the link between the Y-chromosome and ...
... is from base pair 50,384,290 to base pair 50,418,018 on chromosome 19.[26] The mouse orthologue maps to mouse chromosome 7.[27] ... "A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes". BMC ... nuclear chromosome, telomeric region. • delta DNA polymerase complex. • cytosol. Biological process. • nucleotide-excision ... Goldsby RE, Singh M, Preston BD (January 1998). "Mouse DNA polymerase delta gene (Pold1) maps to chromosome 7". Mammalian ...
HeLa cells, for example, are extremely prolific and have tetraploidy 12, trisomy 6, 8, and 17, and a modal chromosome number of ... but once cells begin the breakage-fusion-bridge (BFB) cycle, they are able to mutate at much faster rates. (See genome ... The counting device for cell doublings is the telomere, which decreases in size (loses nucleotides at the ends of chromosomes) ... It is the cell cycle phase where the chromosomes (DNA) are duplicated in preparation for cellular division. The transition from ...
Mouse cells deficient for maturation of prelamin A show increased DNA damage and chromosome aberrations and are more sensitive ... These include ataxia-telangiectasia, Nijmegen breakage syndrome, some subgroups of xeroderma pigmentosum, trichothiodystrophy, ... and thus can be correctly repaired using the complementary undamaged sequence in a homologous chromosome if it is available for ...
Telomeres protect the end of the chromosome from DNA damage or from fusion with neighbouring chromosomes. The fruit fly ... Fanconi anemia and Nijmegen breakage syndrome are associated with short telomeres. However, the genes that have mutated in ... Exposed chromosome ends are interpreted as double-stranded breaks (DSB) in DNA; such damage is usually repaired by reattaching ... Cri du chat syndrome (CdCS) is a complex disorder involving the loss of the distal portion of the short arm of chromosome 5. ...
Combined cytological and autoradiographic analyses of meiosis showed that crossing over is achieved by breakage and exchange of ... and it is well removed from premeiotic chromosome duplication. http://data.gbif.org/species/5806672/ Eades, D.C.; Otte, D.; ...
Dicentric chromosome) will result in chromosome breakage during mitosis. In some unusual cases human neocentromeres have been ... A dicentric chromosome is an abnormal chromosome with two centromeres. It is formed through the fusion of two chromosome ... The monocentric chromosome is a chromosome that has only one centromere in a chromosome and forms a narrow constriction. ... A telocentric chromosome's centromere is located at the terminal end of the chromosome. A telocentric chromosome has therefore ...
Long had an extra X chromosome. Speck was erroneously reported to have an extra Y chromosome; in fact, his karyotype was ... The term "fracture" is defined as a small breakage of the personality which is often not visible to the outside world and is ... 1979). Sex chromosome aneuploidy: prospective studies on children. Birth defects original article series 15 (1). New York: Alan ... 1982). Children with sex chromosome aneuploidy: follow-up studies. Birth defects original article series 18 (4). New York: Alan ...
Eastmond, D.A.; Rupa, DS; Hasegawa, LS (2000). "Detection of hyperdiploidy and chromosome breakage in interphase human ... which maintains chromosome structure), disruption of microtubules (which maintains cellular structure and organization), ...
... chromosomes. This fragmentation is site specific, directed by a conserved chromosome breakage sequence (Cbs element). An ... DNA sequences immediately flanking functional chromosome breakage elements. (A) Alignment of G and C nucleotides. As and Ts ... Genome-wide characterization of Tetrahymena thermophila chromosome breakage sites. II. Physical and genetic mapping.. Cassidy- ... This article reports the physical and genetic characterization of 30 functional chromosome breakage junctions. Unique sequence ...
Impairments in chromosome maintenance are linked to rare chromosome breakage disorders. Here, we have identified a chromosome ... Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. Saskia N. van der Crabben,1 Marije ... This work associates missense mutations in NSMCE3 with an autosomal recessive chromosome breakage syndrome that leads to ... In summary, our work describes what we believe to be a novel autosomal recessive chromosome breakage syndrome, resulting from ...
Impairments in chromosome maintenance are linked to rare chromosome breakage disorders. Here, we have identified a chromosome ... with an autosomal recessive chromosome breakage syndrome that leads to defective T and B cell function and acute respiratory ... Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. ... Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. ...
... to test the hypothesis that human lymphocytes derived from elderly individuals have a higher chromosome instability. Peripheral ... Chromosomes of older humans are more prone to aminopterine-induced breakage Proc Natl Acad Sci U S A. 1989 Feb;86(4):1302-6. ... two human X chromosome-linked markers located at opposite ends of the X chromosome. Cell hybrid clones with an X chromosome ... We speculate that the higher rate of chromosomal breakage and of marker loss observed along the "old-age" X chromosomes could ...
... of cells had a rearrangement of chromosome 2 in the form of a ring, viz., r(2)(2p25.2 leads to 2 … ... Human chromosome 2 rod/ring mosaicism: probable origin by prezygotic breakage and intrachromosomal exchange Cytogenet Cell ... Differential selection against cells with the ring chromosome in blood and skin probably occurred during subsequent ... of cells had a rearrangement of chromosome 2 in the form of a ring, viz., r(2)(2p25.2 leads to 2q33.2). Both configurations ...
Testing putative Cbs-containing inserts for chromosome breakage function:. MIC-specific amplification across a chromosome ... CU526 contains exclusively chromosome 1 DNA in its MIC. For assigning Cbs junctions to a chromosome (or chromosome arm), a ... chromosomes. This fragmentation is site specific and directed by a conserved 15-bp chromosome breakage sequence (Cbs element). ... Yao, M.-C, C. H. Yao and B. Monks, 1990 The controlling sequence for site-specific chromosome breakage in Tetrahymena. Cell 63: ...
... chromosome breakage as a medical condition including prevalence, incidence, death rates, and social and hospital statistics. ... Thrombocytopenia -- chromosome breakage: Rare Disease Status. Thrombocytopenia -- chromosome breakage is listed as a "rare ... Thrombocytopenia -- chromosome breakage: Rare Disease Status. Thrombocytopenia -- chromosome breakage is listed as a "rare ... Statistics about Thrombocytopenia -- chromosome breakage. *Prevalence and Incidence of Thrombocytopenia -- chromosome breakage ...
Results: A 39 year old man with a rare autosomal recessive "chromosome breakage" syndrome was followed. A variety of ocular ... Bloom syndrome is an archetypal "chromosome breakage syndrome." A recessively inherited mutation in the BLM gene leads to an ... Gibbons B, Scott D, Hungerford JL, et al. Retinoblastoma in association with chromosome breakage syndromes Fanconis anaemia ... "chromosome breakage syndrome."7 Owing to excessive chromosomal rearrangements in all cell types, somatic mutations occur at a ...
However, the mechanism of this breakage is unknown. Here, we propose that the site of chromosome breakage consistent with the ... Chromosome breakage at a major fragile site associated with P-glycoprotein gene amplification in multidrug-resistant CHO cells. ... Chromosome breakage at a major fragile site associated with P-glycoprotein gene amplification in multidrug-resistant CHO cells. ... Chromosome breakage at a major fragile site associated with P-glycoprotein gene amplification in multidrug-resistant CHO cells. ...
Chromosomal breakage occurs during apoptosis and chromosome rearrangement. Chromosomal breakages tend to cluster in certain ... Chromosomal breakage is an early event in both apoptotic DNA fragmentation and chromosome rearrangement. Previous studies ... These data have been published in our previous report [26]. Chromosomal breakage resulting from chromosome loop excision is an ... IPCR detection of chromosome breaks mediated by H2O2-induced apoptosis in NP69 cells. To detect chromosome breaks within the ...
Nondisjunction of a Single Chromosome Leads to Breakage and Activation of DNA Damage Checkpoint in G2 Download PDF České info ... Conversely, if these anaphase bridges break apart, chromosomes could enter the so-called breakage-fusion-bridge cycle [3]-[5], ... Chromosome XII integrity is compromised after a cdc14-1 release. Although chromosome XII also started replication after the ... Note how the size of chromosome XII changed in most cdc14-1 rad52Δ and that survivor b4 has two chromosome XIIs. ...
Folate deficiency causes uracil misincorporation into human DNA and chromosome breakage: Implications for cancer and neuronal ... Folate deficiency causes uracil misincorporation into human DNA and chromosome breakage: Implications for cancer and neuronal ... During repair of uracil in DNA, transient nicks are formed; two opposing nicks could lead to chromosome breaks. Both high DNA ... Folate deficiency causes massive incorporation of uracil into human DNA (4 million per cell) and chromosome breaks. The likely ...
Genomic instability dependent on chromosomal breakage events is not stochastic, targeting some chromosomes clearly more than ... suggesting a particular proclivity of this chromosome for breaks. We also observed chromothripsis affecting various chromosomes ... We describe the number of chromosomal breaks as well as the patterns of breaks on individual chromosomes in each tumor. There ... although the highest density of breaks occurred at chromosome 17 in all subtypes, ...
... disorders characterized by increased frequencies of broken and rearranged chromosomes Explanation of chromosome breakage ... Find out information about chromosome breakage syndrome. Any of a number of human genetic ... chromosome breakage syndrome. Also found in: Medical. chromosome breakage syndrome. [′krō·mə‚sōm ′brā·kij ‚sin‚drōm] (medicine ... Chromosome breakage syndrome , Article about chromosome breakage syndrome by The Free Dictionary https://encyclopedia2. ...
Chromosome Breakage Disorders Test. Overview. Chromosomal breakage syndromes are a group of genetic disorders that are ...
Her studies of chromosome breakage in maize led her to discover a chromosome-breaking locus that could change its position ... She identified a particular chromosome breakage event that always occurred at the same locus on maize chromosome 9, which she ... and found that Ds chromosome breakage could be activated by an Ac element at a different site or even on a different chromosome ... 1981) Identifying P factors in Drosophila by means of chromosome breakage hotspots. Cell 26(3 Pt 1):421-428. ...
Cytogenetic quantitation of chromosomal breakage in response to diepoxybutane (DEB) and mitomycin C (MMC). ...
Chromosomal Breakage, Fusion, and Autosyndetic Chromosome Rearrangement.. Chromosomal breakage and fragment loss were detected ... S6).Chromosome 6 from the A genome had the lowest rate of chromosome change, and we observed a single loss of one chromosome ... S5 C and D). This chromosome also had chromosome rearrangements at the centromere position with an unknown chromosome from the ... Lost chromosomes were often compensated by the gain of homoeologous chromosome, particularly for homoeologous chromosome sets ...
Test Update: Chromosome Analysis Breakage Study. Effective immediately, due to low test utilization and the high cost of ... the Chromosome Analysis Breakage Study will no longer be offered by the Spectrum Health Cytogenetics Department. ... "Test 140 DEB Breakage Study to Integrated Genetics" in the comments. The testing will be sent out through Spectrum Health ...
Hotspots of mutation and breakage in dog and human chromosomes. Genome Research 15 (12) , pp. 1787-1797. 10.1101/gr.3896805 ...
What is Chromosome breakage syndromes? Meaning of Chromosome breakage syndromes medical term. What does Chromosome breakage ... Looking for online definition of Chromosome breakage syndromes in the Medical Dictionary? Chromosome breakage syndromes ... redirected from Chromosome breakage syndromes). Also found in: Dictionary, Encyclopedia.. Related to Chromosome breakage ... Chromosome breakage syndromes , definition of Chromosome breakage syndromes by Medical dictionary https://medical-dictionary. ...
Many studies were published to evaluate the association between Nijmegen breakage syndrome 1 (NBS1) 657del5 polymorphism and ... Genes Chromosomes Cancer. 1999;25:393-5.CrossRefPubMedGoogle Scholar. *. 9. ... Nijmegen breakage syndrome mutations and risk of breast cancer. Int J Cancer. 2008;122:802-6.CrossRefPubMedGoogle Scholar ... Kondratenko I, Paschenko O, Polyakov A, Bologov A. Nijmegen breakage syndrome. Adv Exp Med Biol. 2007;601:61-7.CrossRefPubMed ...
Ackerman, Evelyn, "A study in the relation between chromosome breakage and gene mutation in Drosophila melanogaster." (1961). ... A study in the relation between chromosome breakage and gene mutation in Drosophila melanogaster. ...
At the end of this process, the two daughter cells have inherited a complete set of chromosomes. Before the next cell division ... chromosomes are duplicated with high speed and fidelity. This important task is performed by the DNA replication machinery, a ... recruit the cohesin rings to promote their stable binding to the newly duplicated chromosomes, that is the establishment of ... we observed that sister-chromatid cohesion was loosened and association of cohesin to chromosomes was reduced. Our experimental ...
Chromosome breakage after G2 checkpoint release , JCBjcb.rupress.org › Archive › 12 March. jcb.rupress.org ... An Imperfect G2M Checkpoint Contributes to Chromosome Instability ...https://www.tandfonline.com/doi/pdf cc www.tandfonline.com ...
Next, we monitored chromosome breakage in primary lymphocytes from the two patients and their mother. Baseline and DNA-damage ... Chromosome breakage analysis. Primary lymphocytes were cultured under standard conditions for karyotyping. Baseline and DNA ... A) Spontaneous and mitomycin C-induced chromosome breakage in primary lymphocytes from the mother and the two POI sisters. Data ... In line with a role of FANCM in the maintenance of genome stability, the occurrence of chromosome breakages and rearrangements ...
Abnormal breakage of chromosomes in white blood cells triggers aggressive form of ALL A research team led by St. Jude ... Childrens Research Hospital scientists has discovered details of how the abnormal breakage and rearrangement of chromosomes in ...
Abnormal breakage of chromosomes in white blood cells triggers aggressive form of ALL A research team led by St. Jude ... Childrens Research Hospital scientists has discovered details of how the abnormal breakage and rearrangement of chromosomes in ...
Barbara McClintock published a paper describing the breakage-fusion-bridge (BFB) cycle in 1939. Many of her ideas were well ... Chromosomes that cause cancer Part 3: Real-life examples of the breakage-fusion-bridge cycle , Chromosomes and Cancer. says: ... Chromosomes that cause cancer: Chromosomes with two centromeres and the breakage-fusion-bridge cycle. November 3, 2013 // ... Chromosomes that cause cancer. Chromosomes with two centromeres and the breakage-fusion-bridge cycle… (chromosomesandcancer.com ...
Why are certain chromosome regions prone to breakages? The answer is crucial, as this fragility is involved in the development ... New light shed on chromosome fragility. December 26, 2011 Why are certain chromosome regions prone to breakages? The answer is ... Scientists identify molecular basis for DNA breakage. July 19, 2011 Scientists from the Hebrew University have identified the ... Laszlo Tora and his colleagues have discovered that breakages in the longest human genes are due to a phenomenon previously ...
  • the remaining 30% of cells had a rearrangement of chromosome 2 in the form of a ring, viz. (nih.gov)
  • Chromosomal breakage occurs during apoptosis and chromosome rearrangement. (springer.com)
  • The rearrangement of parts of chromosomes (translocations) and amplifications or deletions within a chromosome may also occur in structural CIN. (wikipedia.org)
  • TE transposition can cause chromosome breakage, illegitimate recombination and genome rearrangement [ 3 ]. (hindawi.com)
  • blood and skin cells show a characteristic pattern of chromosome breakage and rearrangement. (medscape.com)
  • Recent studies of several drug-resistant Chinese hamster cell lines suggested that a breakage-fusion-bridge mechanism is frequently involved in the amplification of drug resistance genes. (asm.org)
  • Most studies of DNA copy number changes in breast tumors report on the potential clinical value of altered genes within these changes, while few have focused on the breakage events leading to the rearrangements themselves. (biomedcentral.com)
  • For much of the 20th century, genes were considered to be stable entities arranged in an orderly linear pattern on chromosomes, like beads on a string ( 1 ). (pnas.org)
  • She also found that depending on where they inserted into a chromosome these mobile elements could reversibly alter the expression of other genes. (pnas.org)
  • McClintock also helped identify all of the maize linkage groups, genes that are inherited together because of their proximity on the same chromosome. (pnas.org)
  • Genes Chromosomes Cancer. (springer.com)
  • Laszlo Tora and his colleagues have discovered that breakages in the longest human genes are due to a phenomenon previously considered improbable in mammalian cells: an interference between two key gene processes, DNA transcription and replication. (phys.org)
  • Since replication takes place in the S phase, the researchers suspected interference between transcription and replication to explain the breakages in very large mammalian genes. (phys.org)
  • The inversion involved in CBF-AML (written as inv(16)) leads to the fusion of two genes on chromosome 16, CBFB and MYH11 . (medlineplus.gov)
  • Less commonly, a translocation involving chromosome 16, written as t(16;16), leads to the fusion of the same two genes. (medlineplus.gov)
  • This interpretation has been confirmed by comparative gene mapping, which established that the same chromosome segments, identified by banding, carry the same genes (Finaz et al . (springer.com)
  • Having an extra copy of this chromosome means that individuals have three copies of each of its genes instead of two, making it difficult for cells to properly control how much protein is made. (wikipedia.org)
  • Genes on chromosome 21 that specifically contribute to the various symptoms of Down syndrome are now being identified. (wikipedia.org)
  • Shiloh Y. Ataxia-telangiectasia and the Nijmegen breakage syndrome: related disorders but genes apart. (springer.com)
  • Control of cell identity genes occurs in insulated neighborhoods in mammalian chromosomes. (nature.com)
  • Modifications include a change in the total number of chromosomes, and changes of chromosomal structures, the deletion or duplication of genes or segments of a chromosome, and rearrangements of the genetic material either within or among chromosomes. (slideserve.com)
  • The chromosomes hold 20,000 to 25,000 genes, meaning that each chromosome is densely packed with genes. (healthywomen.org)
  • The genes on the chromosomes are responsible for making proteins, which direct our biological development and the activity of about 100 trillion cells in our bodies. (healthywomen.org)
  • Determination of the frequency of the common 657del5 Nijmegen breakage syndrome mutation in the German population: no association with risk of breast cancer. (springer.com)
  • Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene . (wikipedia.org)
  • Increased mutation rates, also in the read-across chemical MMA correlate with small colony mutants and chromosome aberrations. (europa.eu)
  • Based on the common mode of action, the Albertini review , the category data and the comprehensive methacrylate overview, it is evident, that an additional chromosome mutation test in mammalian cells is not necessary. (europa.eu)
  • Spread of Mutation Change Along Chromosome. (nih.gov)
  • In Arabidopsis, synthetic allotetraploids are meiotically stable ( 26 , 27 ), and the frequencies of aneuploidy and chromosome abnormalities are relatively low ( 27 ). (pnas.org)
  • The affected sisters also had higher levels of abnormalities in the chromosomes compared with their unaffected mother. (elifesciences.org)
  • Abnormalities of chromosomes - the carriers of heredity in every body cell - have been associated with increased risk of cancer and birth defects. (washingtonpost.com)
  • The study is significant, he said, because "there is no question but what chromosome abnormalities are associated clinically with cancer. (washingtonpost.com)
  • Most chromosome abnormalities occur as an accident in the egg cell or sperm, and therefore the anomaly is present in every cell of the body. (wikipedia.org)
  • Consequently, screening of embryos for chromosome abnormalities prior to embryo transfer can significantly improve pregnancy rates, decrease miscarriage rates, as well as reduce the risk of having a child with syndrome such as Down or Turner. (newswiretoday.com)
  • Recent CGH studies show that between twenty and forty percent of all embryos carry chromosome abnormalities that could not be detected using FISH screens employed in conventional PGD. (newswiretoday.com)
  • These chromosome abnormalities in human embryos can cause developmental arrest during the preimplantation phase, implantation failure and/or miscarriage. (newswiretoday.com)
  • When chromosome abnormalities were found, the cell was photographed. (nasa.gov)
  • As a result, some individuals with Chromosome 21 Ring may have few or no associated symptoms, whereas others may have severe physical abnormalities and mental retardation. (rarediseases.org)
  • Some tests look at chromosomes for abnormalities such as extra, missing or transposed chromosomal material. (healthywomen.org)
  • Taken together, such changes are called chromosome mutations or chromosome aberrations, to distinguish them from gene mutations. (slideserve.com)
  • Because, according to Mendelian laws, the chromosome is the unit of genetic transmission, chromosome aberrations are passed on to offspring in a predictable manner, resulting in many unique genetic outcomes. (slideserve.com)
  • a lichen) on imazalil-induced genotoxicity: analysis of micronucleus and chromosome aberrations in vitro. (biomedsearch.com)
  • Most examples don't show the version I've presented - where two different chromosomes have joined together. (chromosomesandcancer.com)
  • Non-homologous end joining can also join two different chromosomes together that had broken ends. (wikipedia.org)
  • Segments from two different chromosomes have been exchanged. (wikipedia.org)
  • This work associates missense mutations in NSMCE3 with an autosomal recessive chromosome breakage syndrome that leads to defective T and B cell function and acute respiratory distress syndrome in early childhood. (jci.org)
  • A 39 year old man with a rare autosomal recessive "chromosome breakage" syndrome was followed. (bmj.com)
  • Nijmegen breakage syndrome (NBS) with NBS1 germ-line mutations is a rare autosomal recessive disease with clinical features that include microcephaly, mental and growth retardation, immunodeficiency, increased radiosensitivity, and predisposition to cancer. (aacrjournals.org)
  • Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease that presents with clinical features such as microcephaly, mental and growth retardation, immunodeficiency, radiosensitivity, and increased risk for cancer, particularly B-cell non-Hodgkin's lymphoma ( 6 - 8 ). (aacrjournals.org)
  • This article reports the physical and genetic characterization of 30 functional chromosome breakage junctions. (nih.gov)
  • The physical and genetic characterization of these functional chromosome breakage junctions is reported in the accompanying article in this issue. (genetics.org)
  • Whole exome sequencing revealed biallelic missense mutations in the NSMCE3 (also known as NDNL2 ) gene, which encodes a subunit of the SMC5/6 complex that is essential for DNA damage response and chromosome segregation. (jci.org)
  • Affected individuals with NSMCE3 mutations with severe l ung disease i mmunodeficiency and c hromosome breakage s yndrome (LICS). (jci.org)
  • Mutations in the Nijmegen breakage syndrome gene in medulloblastomas. (springer.com)
  • The three major single-chromosome mutations: deletion (1), duplication (2) and inversion (3). (wikipedia.org)
  • The two major two-chromosome mutations: insertion (1) and Translocation (2). (wikipedia.org)
  • Chromosome mutations in mammalian cells: The EMA key study is negative, but a supporting study is positive. (europa.eu)
  • Mutations in NBN have been found in patients with Nijmegen Breakage Syndrome (NBS), which is characterized by short stature, microcephaly, distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, and intellectual disability. (jax.org)
  • This fragmentation is site specific, directed by a conserved chromosome breakage sequence (Cbs element). (nih.gov)
  • Here, we have identified a chromosome breakage syndrome associated with severe lung disease in early childhood. (jci.org)
  • the BLM gene encodes a RecQ DNA helicase important for DNA repair, defects of which give rise to this "chromosome breakage syndrome. (bmj.com)
  • Many studies were published to evaluate the association between Nijmegen breakage syndrome 1 (NBS1) 657del5 polymorphism and breast cancer risk, but the results remained inconsistent. (springer.com)
  • An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele. (springer.com)
  • The gene mutated in this syndrome is NBS1 , located at chromosome 8q21 ( 9 ). (aacrjournals.org)
  • An example of monosomy is Turner syndrome , where the individual is born with only one sex chromosome, an X. (wikipedia.org)
  • Physical mapping of the bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1. (medscape.com)
  • Ataxia-telangiectasia (A-T) and Nijmegen breakage syndrome (NBS) are well-known single-gene disorders, which have similar cellular phenotypes, including chromosome instability, radioresistant DNA synthesis, and hypersensitivity to radiation. (springer.com)
  • A new chromosomal instability disorder: the Nijmegen breakage syndrome. (springer.com)
  • The International Nijmegen Breakage Syndrome Study Group. (springer.com)
  • Positional cloning of the gene for Nijmegen breakage syndrome. (springer.com)
  • Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability. (springer.com)
  • They may be useful when studying human chromosome instability syndromes such as Nijmegen Breakage Syndrome and ataxia-telangiectasia like disorder. (jax.org)
  • 2002. A murine model of nijmegen breakage syndrome. (jax.org)
  • In some cases, the features associated with Chromosome 21 Ring may resemble those seen in individuals with other disorders of chromosome 21, such as Chromosome 21 Monosomy or Down Syndrome (also known as Chromosome 21 Trisomy). (rarediseases.org)
  • If some cells contain a Chromosome 21 Ring in addition to the normal chromosomal pair (mosaic trisomy), some features may be present that resemble those associated with Down Syndrome (also known as Chromosome 21 Trisomy). (rarediseases.org)
  • The Role of Dicentric Chromosome Formation and Secondary Centromere Deletion in the Evolution of Myeloid Malignancy. (chromosomesandcancer.com)
  • Pure proximal deletion of chromosome 21 and kyphosis. (biomedsearch.com)
  • We report on two unrelated patients with a proximal deletion of the long arm of chromosome 21. (biomedsearch.com)
  • Chromosome 21 Ring results from loss (deletion) of genetic material from both ends of the 21st chromosome and joining of the ends to form a ring. (rarediseases.org)
  • If the ring chromosome replaces a normal 21st chromosome, symptoms may resemble those associated with Chromosome 21 Monosomy, a disorder characterized by deletion of all or a portion of the 21st chromosome. (rarediseases.org)
  • The broken chromosomes in the new cell join together - the top daughter cell gets an extra copy of the yellow gene. (chromosomesandcancer.com)
  • Homologous recombination, an essential process for preserving genomic integrity, uses intact homologous sequences to repair broken chromosomes. (nih.gov)
  • He found a twofold increase in one category of abnormality (broken chromosomes) and a tenfold increase in another category (broken chromosomes and chromosome rearrangements) as compared to a control group of 44 persons applying for jobs at Dow. (washingtonpost.com)
  • Chromosomal instability (CIN) is a type of genomic instability in which chromosomes are unstable, such that either whole chromosomes or parts of chromosomes are duplicated or deleted. (wikipedia.org)
  • Structural CIN is different in that rather than whole chromosomes, fragments of chromosomes may be duplicated or deleted. (wikipedia.org)
  • These micronuclei may originate from chromosome fragments or whole chromosomes which are unable to migrate with the rest of the chromosomes during the anaphase of cell division [ 2 ]. (hindawi.com)
  • By providing unique sequence from natural ends of macronuclear chromosomes, Cbs junctions will provide useful sequence tags for relating macro- and micronuclear genetic, physical, and whole-genome sequence maps. (nih.gov)
  • By providing unique sequence from the natural ends of macronuclear chromosomes, Cbs junctions characterized in the work reported here will serve as useful sequence tags for relating macro- and micronuclear genetic, physical, and sequence maps. (genetics.org)
  • Here, we describe a genetic system to induce mitotic progression in the presence of nondisjunction in yeast chromosome XII right arm (cXIIr), which allows the characterisation of the cellular fate of the progeny. (prolekare.cz)
  • Any of a number of human genetic disorders characterized by increased frequencies of broken and rearranged chromosomes. (thefreedictionary.com)
  • 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.org.au)
  • Her early contributions to the field of maize cytogenetics-a combination of classic genetic techniques and microscopic examination of stained maize chromosomes-set the stage for her later discovery. (pnas.org)
  • Thomas Hunt Morgan's group conducted many pioneering genetic studies in the fruit fly model during this period, and Morgan's student Alfred Sturtevant published the first genetic map of a chromosome in 1913 ( 5 ). (pnas.org)
  • She would soon help extend to maize some of the classic genetic work done previously in fruit flies, confirming Morgan's ideas about the role played by the chromosome in heredity. (pnas.org)
  • By 1929, she had refined these techniques sufficiently to discriminate between each of the 10 maize chromosomes, allowing researchers to link genetic data to the behavior of chromosomes. (pnas.org)
  • By 1932, McClintock had published nine articles on maize chromosomes, including studies of the centromere and the nucleolus, and a landmark 1931 PNAS article in which she and graduate student Harriet Creighton demonstrated genetic crossing-over at the chromosomal level and showed that genetic recombination involved the physical exchange of chromosome segments, a major contribution to the field of genetics ( 6 ). (pnas.org)
  • This was the origin of a lifelong involvement in the study of polyploid evolution and on the genetic and meiotic equivalences and distinctions between the chromosomes derived from different parents in the creation of allopolyploids. (nap.edu)
  • She developed the technique for visualizing maize chromosomes and used microscopic analysis to demonstrate many fundamental genetic ideas. (wikipedia.org)
  • One of those ideas was the notion of genetic recombination by crossing-over during meiosis -a mechanism by which chromosomes exchange information. (wikipedia.org)
  • She produced the first genetic map for maize, linking regions of the chromosome to physical traits. (wikipedia.org)
  • She demonstrated the role of the telomere and centromere , regions of the chromosome that are important in the conservation of genetic information . (wikipedia.org)
  • A portion of the chromosome is duplicated, resulting in extra genetic material. (wikipedia.org)
  • A portion of the chromosome has broken off, turned upside down, and reattached, therefore the genetic material is inverted. (wikipedia.org)
  • These structures represent chromosomes that are missing the genetic material beyond that centromere. (slideserve.com)
  • isochromosome which is a chromosome that contains the same genetic material on both arms. (slideserve.com)
  • The amount of genetic material lost at the two ends of the chromosome may vary. (rarediseases.org)
  • The symptoms and findings associated with Chromosome 21 Ring may be extremely variable, depending upon the amount and location of genetic material lost from the 21st chromosome and other factors. (rarediseases.org)
  • Impairments in chromosome maintenance are linked to rare chromosome breakage disorders. (jci.org)
  • Known human disorders include Charcot-Marie-Tooth disease type 1A , which may be caused by duplication of the gene encoding peripheral myelin protein 22 (PMP22) on chromosome 17. (wikipedia.org)
  • Chromosome instability syndromes are a group of disorders characterized by chromosomal instability and breakage. (wikipedia.org)
  • Patient cells showed chromosome rearrangements, micronuclei, sensitivity to replication stress and DNA damage, and defective homologous recombination. (jci.org)
  • FANCM protein was preferentially expressed along the chromosomes in pachytene cells, which undergo meiotic recombination. (elifesciences.org)
  • Increased chromosome mobility facilitates homology search during recombination. (nih.gov)
  • If repair enzymes do not catch this recombination event, the cell may contain non-reciprocal translocation where parts of non-homologous chromosomes are joined together. (wikipedia.org)
  • During meiosis, Structural Maintenance of Chromosome (SMC) complexes underpin two fundamental features of meiosis: homologous recombination and chromosome segregation. (prolekare.cz)
  • The structural maintenance of chromosomes (SMC) family of proteins supports mitotic proliferation, meiosis, and DNA repair to control genomic stability. (jci.org)
  • The Behavior in Successive Nuclear Divisions of a Chromosome Broken at Meiosis. (chromosomesandcancer.com)
  • To achieve this, homologous chromosomes (homologs) have to pair and then segregate to opposite spindle poles at the first division of meiosis. (prolekare.cz)
  • Crossover-specific joint molecule intermediates (JMs) are formed during midprophase I of meiosis ('thick threads', pachytene), when homologous chromosomes are highly compacted and paired along their entire length by the synaptonemal complex. (prolekare.cz)
  • During meiosis, two rounds of chromosome segregation occur after a single round of DNA replication, producing haploid progeny from diploid progenitors. (ebscohost.com)
  • Three innovations in chromosome behaviour during meiosis I accomplish this unique division. (ebscohost.com)
  • Chromosome anomalies usually occur when there is an error in cell division following meiosis or mitosis . (wikipedia.org)
  • Nondisjunction occurs when paired chromosomes do not separate either during meiosis I or meiosis II. (slideserve.com)
  • Genome-wide characterization of Tetrahymena thermophila chromosome breakage sites. (nih.gov)
  • The chromosomes of the macronuclear (expressed) genome of Tetrahymena thermophila are generated by developmental fragmentation of the five micronuclear (germline) chromosomes. (nih.gov)
  • An accompanying article in this issue reports the development of a successful scheme for the genome-wide cloning and identification of functional chromosome breakage sites. (nih.gov)
  • This article reports the construction of a library enriched for chromosome breakage junctions and the development of a successful scheme for the genome-wide isolation and characterization of functional Cbs junctions. (genetics.org)
  • As part of the ongoing Candida albicans Genome Project, we have constructed a complete sequence-tagged site contig map of chromosome 7 , using a library of 3840 clones made in fosmids to promote the stability of repeated DNA. (genetics.org)
  • We report here the shotgun sequencing, assembly, and analysis of the MAC genome of T. thermophila , which is approximately 104 Mb in length and composed of approximately 225 chromosomes. (blogspot.com)
  • We also acknowledge Genome Canada for support of EST library construction and sequencing through the Protist EST Project and grant RR-009231 to EO from the National Institutes of Health (the National Center for Research Resources) which supported the RAPD and Cbs work and an EO subcontract to NSF grant MCB-0132675 which supported sequence analyses related to number of chromosomes and their copy number. (blogspot.com)
  • If need arises for this test, please place an order for a Reference Miscellaneous (EPIC# LAB848) and enter "Test 140 DEB Breakage Study to Integrated Genetics" in the comments. (spectrumhealth.org)
  • Genetics of meiotic chromosome pairing. (nap.edu)
  • It is diploid, contains five pairs of chromosomes, and divides mitotically. (genetics.org)
  • Although most members of diploid species normally contain precisely two haploid chromosome sets, many known cases vary from this pattern. (slideserve.com)
  • Each of these conditions is a variation on the normal diploid number of chromosomes. (slideserve.com)
  • Chromosomes bridge in anaphase because they have either more than one centromere or problems in resolving the sister chromatids. (prolekare.cz)
  • To recap , a normal chromosome has one centromere. (chromosomesandcancer.com)
  • Before the chromosome divides, the two identical halves ( chromatids ) are held together at the centromere. (chromosomesandcancer.com)
  • When the chromosome divides the centromere splits into two halves, the chromatids become the new chromosomes, and the centromeres take the two new chromosomes in different directions into the two new daughter cells. (chromosomesandcancer.com)
  • So if we find a chromosome with this type of change on one side of the centromere only it's a clue that this might have been caused by the breakage-fusion-bridge cycle. (chromosomesandcancer.com)
  • An entire chromosome has attached to another at the centromere - in humans these only occur with chromosomes 13, 14, 15, 21, and 22. (wikipedia.org)
  • Formed by the mirror image copy of a chromosome segment including the centromere. (wikipedia.org)
  • This assay discerns the presence of centromere within the MN to distinguish the MN containing centric chromosomes from those containing acentric fragments. (cdc.gov)
  • telocentrics which are chromosomes that have a terminal centromere. (slideserve.com)
  • DNA sequences immediately flanking functional chromosome breakage elements. (nih.gov)
  • Two distinct previously unreported variant chromosome breakage sequences were found, each in two or more functional Cbs elements. (genetics.org)
  • Karyotype analysis of the S 10:11 generation detected aneuploidy and inter- and intragenomic rearrangements, chromosome breakage and fusion, rDNA changes, and loss of repeat sequences. (pnas.org)
  • Since human chromosomes contain repetitive DNA sections, broken DNA segments from one chromosome can combine with similar sequences on a non-homologous chromosome. (wikipedia.org)
  • Normal cells make errors in chromosome segregation in 1% of cell divisions, whereas cells with CIN make these errors approximately 20% of cell divisions. (wikipedia.org)
  • A few chromosomal breakages were detected within the AF9 region which was previously found to be involved in the mixed lineage leukaemia ( MLL )- AF9 translocation in an acute lymphoblastic leukaemia patient. (springer.com)
  • Breakage on chromosome 2 brings the Ck gene to a region 3' of c-myc in a Burkitt's lymphoma line carrying a (2;8) translocation. (ox.ac.uk)
  • We have shown using in situ hybridization that the constant region of the kappa light chain immunoglobulin gene (Ck) is translocated from chromosome 2 to chromosome 8 in Burkitt's lymphoma cells with a (2;8) translocation. (ox.ac.uk)
  • The most common translocation in this condition, called t(8;21), fuses a part of the RUNX1 gene on chromosome 21 with part of the RUNX1T1 gene (also known as ETO ) on chromosome 8. (medlineplus.gov)
  • The main conclusions are that this phylogeny is compatible with the occurrence during evolution of simple chromosome rearrangements - inversions, fusions, reciprocal translocation, acquisition or loss of heterochromatin - and that it is entirely consistent with the known primate phylogeny based on physical morphology and molecular evolution. (springer.com)
  • Increases in recessive lethal frequency and decreases in translocation frequency in mature sperm, and translocations and losses of dominant markers Y+ and B from the Y chromosome in pupal stage were found in the irradiated flight specimens. (nasa.gov)
  • 29 coke oven workers and a standardised control group were investigated for frequencies of DNA single strand breakage, DNA protein cross links (alkaline filter elution assay), sister chromatid exchange, and DNA adducts ({sup}32{end}P postlabeling assay) in lymphocytes. (ebscohost.com)
  • A loss in the repair systems for DNA double-stranded breaks and eroded telomeres can allow chromosomal rearrangements that generate loss, amplification and/or exchange of chromosome segments. (wikipedia.org)
  • Chromosomal breakage followed by faulty DNA repair leads to gene amplifications and deletions in cancers. (biomedcentral.com)
  • A chromosomal instability assay should measure not only whole chromosome change rates, but also the partial chromosomal changes such as deletions, insertions, inversion and amplifications to also take into account segmental aneuploidies. (wikipedia.org)
  • During this time, McClintock developed staining techniques to visualize maize chromosomes, techniques that would later help her discover transposition. (pnas.org)
  • two opposing nicks could lead to chromosome breaks. (altmetric.com)
  • We show that both routes can lead to chromosome breakage in the subsequent G 2 phase. (aacrjournals.org)
  • a double tetrasomic contains an extra pair of two pairs of homologous chromosomes (2N+2+2). (slideserve.com)
  • Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. (rarediseases.org)
  • Most people have 23 pairs of chromosomes in the nucleus of each cell. (healthywomen.org)
  • Locations of Ds in Short Arm of Chromosome 9. (nih.gov)
  • Unique sequence tags and physical sizes were obtained for the pair of macronuclear chromosomes generated by fragmentation at each Cbs. (nih.gov)
  • Fragmentation occurs at a specific 15-bp sequence present exclusively in the MIC, the chromosome breakage sequence (Cbs element). (genetics.org)
  • The repeated sequence CARE2/Rel2 is a subtelomeric repeat on chromosome 7 and possibly on the other chromosomes as well. (genetics.org)
  • We describe the number of chromosomal breaks as well as the patterns of breaks on individual chromosomes in each tumor. (biomedcentral.com)
  • Changes in copy number of individual chromosomes were detected in the S 0:1 generation and increased in subsequent generations, despite the fact that the mean chromosome number among lines was approximately 38. (pnas.org)
  • Cell hybrid clones with an X chromosome from a young control retained both markers in about 70% of the cells. (nih.gov)
  • In contrast, cell hybrid clones with an X chromosome from an old donor retained the MIC2 marker in only 30% of their cells. (nih.gov)
  • Differential selection against cells with the ring chromosome in blood and skin probably occurred during subsequent embryological development. (nih.gov)
  • Chromosome breakage at a major fragile site associated with P-glycoprotein gene amplification in multidrug-resistant CHO cells. (asm.org)
  • These observations underscore the importance of chromosome breakage in the initiation of DNA amplification in mammalian cells. (asm.org)
  • Here, we propose that the site of chromosome breakage consistent with the initial event of P-glycoprotein (P-gp) gene amplification via the breakage-fusion-bridge cycle in three independently established multidrug-resistant CHO cells was located at 1q31. (asm.org)
  • These observations suggest that chromosome fragile sites play a pivotal role in DNA amplification in mammalian cells. (asm.org)
  • We have previously demonstrated that oxidative stress-induced apoptosis could be a potential mechanism mediating chromosome breakages in nasopharyngeal epithelial cells. (springer.com)
  • These results reaffirm our previous findings that oxidative stress-induced apoptosis could be one of the potential mechanisms underlying chromosome breakages in nasopharyngeal epithelial cells. (springer.com)
  • However, the fate of cells when one or a few chromosomes fail to separate has not been determined. (prolekare.cz)
  • Cytologically, we observed the accumulation of damage foci containing RPA/Rad52 proteins but failed to detect Mre11, indicating that cells attempt to repair both chromosome arms through a MRX-independent recombinational pathway. (prolekare.cz)
  • Chromosomes lagging or bridging during anaphase are believed to be one of the main sporadic causes of cytokinesis failure, which leads to tetraploid cells with multicentrosomes, a hallmark of early tumourigenesis [1] , [2] . (prolekare.cz)
  • Chromosomes with two centromeres are not unusual in cancer cells. (chromosomesandcancer.com)
  • Scientists from the Hebrew University have identified the molecular basis for DNA breakage, a hallmark of cancer cells. (phys.org)
  • Type IIA topoisomerases together manage chromosome integrity and topology in cells. (ebi.ac.uk)
  • Patient cells exhibited deficiency in BRCA1 and RAD51 localization to DNA-damage sites, combined with radial chromosome formation and hypersensitivity to ICL-inducing agents. (aacrjournals.org)
  • The unequal distribution of DNA to daughter cells upon mitosis results in a failure to maintain euploidy (the correct number of chromosomes) leading to aneuploidy (incorrect number of chromosomes). (wikipedia.org)
  • In other words, the daughter cells do not have the same number of chromosomes as the cell they originated from. (wikipedia.org)
  • As chromosome instability refers to the rate that chromosomes or large portions of chromosomes are changed, there should be comparisons between cells, or cell populations rather than looking at cells individually in order to determine chromosome instability. (wikipedia.org)
  • This is because the fitness cost (survival to next generation) of chromosomal instability is lower in polyploid cells, as the cell has a greater number of chromosomes to make up for the chromosomal instability it experiences. (wikipedia.org)
  • 3D chromosome regulatory landscape of human pluripotent cells. (nature.com)
  • However, release from arrest occurs before the completion of DSB repair, resulting in chromosome breakage in cells released from checkpoint arrest ( 12 ). (aacrjournals.org)
  • the p53-dependent G 1 -S checkpoint has been reported to be sensitive to a single DSB, yet cytologic studies have shown that mitotic chromosome breaks arise in irradiated G 0 -G 1 -phase cells ( 5 - 7 , 18 ). (aacrjournals.org)
  • After centrifugation, cells were resuspended in sodium citrate, resulting in better chromosome spreading. (nasa.gov)
  • Chromosomes are found in the nucleus of all body cells. (rarediseases.org)
  • FA cells are characterised by chromosomal hypersensitivity to cross linking agents 3 and the resulting increase in chromosome breakage provides the basis for a diagnostic test. (bmj.com)
  • The daughter cells have half the number of chromosomes present in the original cell. (s-cool.co.uk)
  • Failure to disjoin chromatids compromises the fidelity of chromosome inheritance and generates aneuploidy and chromosome rearrangements, conditions linked to cancer development. (prolekare.cz)
  • We have adopted a simplified version of the "cell hybrid cotransfer method" to test the hypothesis that human lymphocytes derived from elderly individuals have a higher chromosome instability. (nih.gov)
  • T lymphocytes from old donors were also found to have an LD50 for aminopterine significantly lower than the concentration of this drug in the HAT medium used to grow the hybrids, suggesting that the higher level of gene loss observed in the X chromosomes from old donors may be directly related to their increased sensitivity to the clastogenic effect of aminopterine. (nih.gov)
  • Sodium benzoate had the mutagenic and cytotoxic toxicity in lymphocytes caused by micronucleus formation and chromosome break. (hindawi.com)
  • The conventional MN assay does not discriminate between MN produced by acentric chromosome fragments from those arising due to whole lagging chromosomes that were not incorporated into daughter nuclei at the time of cell division. (cdc.gov)
  • A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 1q22-23. (springer.com)
  • Topoisomerase IV primarily decatenates DNA and relaxes positive supercoils, which is important in bacteria, where the circular chromosome becomes catenated, or linked, during replication [ PMID: 16023670 ]. (ebi.ac.uk)
  • Prokaryotic topoisomerase I (topo IA) can only relax negative supercoiled DNA, whereas eukaryotic topoisomerase I (topo IB) can introduce positive supercoils, separating the DNA of daughter chromosomes after DNA replication, and relax DNA. (wikipedia.org)
  • The resolution of chromosomes during anaphase is a key step in mitosis. (prolekare.cz)
  • Genomic instability dependent on chromosomal breakage events is not stochastic, targeting some chromosomes clearly more than others. (biomedcentral.com)
  • Finally, we observed differences in chromosomal breakage patterns between different clinical breast cancer subtypes, We show that a relatively simple approach to the analysis of genomic data (much less detailed than sequencing) can be very informative when used on highly purified tumor biopsies and can provide new insights into the biology of known clinical categories of breast cancer. (biomedcentral.com)
  • The genomic consequences of polyploidy have been extensively studied, but the mechanisms for chromosome stability and diploidization in polyploids remain largely unknown. (pnas.org)
  • Sexually reproducing organisms reduce their genomic content by half in the gametes such that the normal chromosome copy number is restored in the zygote. (prolekare.cz)
  • Almost all humans have two copies of each chromosome and therefore have two copies of each gene, one inherited from the mother and the other from the father. (healthywomen.org)
  • Very wrong, in the sense that it can cause the chromosomes to keep changing, and this can cause cancer. (chromosomesandcancer.com)
  • Both series of hybrid clones were analyzed with respect to the retention of the enzyme glucose-6-phosphate dehydrogenase and the surface antigen MIC2 identified by monoclonal antibody 12E7, two human X chromosome-linked markers located at opposite ends of the X chromosome. (nih.gov)
  • Folate deficiency causes massive incorporation of uracil into human DNA (4 million per cell) and chromosome breaks. (altmetric.com)
  • A human chromosome with two centromeres is abnormal. (chromosomesandcancer.com)
  • A comparison of chimpanzee and human chromosomes using the Giemsa-11 and other chromosome banding techniques. (springer.com)
  • Hypergonadotropic hypogonadism is often related to gonadal development failure, as in , where the karyotype 45,X indicates an absence of an X chromosome. (tripdatabase.com)
  • The MAC chromosomes are generated by fragmentation of the germline (MIC) chromosomes in the developing macronuclear anlagen during conjugation, but the molecular mechanism remains to be elucidated. (genetics.org)
  • Many, perhaps most, images demonstrating the BFB cycle show a different version - where the abnormal chromosome is created by two chromatids of one chromosome breaking and joining together. (chromosomesandcancer.com)
  • As the chromosomes pair up ( homologous ), the twisting produces tension, and sometimes sections of chromatid may break and exchange new partners with corresponding sections of different chromatids. (s-cool.co.uk)
  • When dicentric chromosomes form, a series of events can occur called a breakage-fusion-bridge cycle: Spindle fibers attach onto both centromeres in different locations on the chromosome, thereby tearing the chromatid into two pieces during anaphase. (wikipedia.org)
  • Homolog separation at anaphase I thus requires the release of sister chromatid cohesion between chromosome arms. (prolekare.cz)
  • Both high DNA uracil levels and elevated micronucleus frequency (a measure of chromosome breaks) are reversed by folate administration. (altmetric.com)
  • If heterochromatin is not taken into account, man has in common with the other primates practically all of his chromosomal material as determined by chromosome banding. (springer.com)
  • Her studies of chromosome breakage in maize led her to discover a chromosome-breaking locus that could change its position within a chromosome. (pnas.org)
  • From the late 1920s, McClintock studied chromosomes and how they change during reproduction in maize. (wikipedia.org)
  • Throughout the lower alkyl methacrylate category, positive findings in chromosome aberration tests are associated with high toxicity and very high concentrations (above the current guideline recommendation. (europa.eu)
  • In addition to these conditions, more than one pair of homologous chromosomes may be involved. (slideserve.com)
  • One of each chromosome pair is inherited from the mother and the other is inherited from the father. (healthywomen.org)
  • Yunis 1983)--by numerous clinical observations, in particular, of patients suffering from hereditary chromosome breakage syndromes (Mathur et al. (thefreedictionary.com)
  • A 32 SNP (single nucleotide polymorphism) panel analysis, with 27 markers covering all 19 chromosomes and the X chromosome, as well as 5 markers that distinguish between the C57BL/6J and C57BL/6N substrains, was performed on the rederived living colony at The Jackson Laboratory Repository. (jax.org)
  • Chromosome 21 Ring is a rare chromosomal disorder in which the affected infant has a breakage of chromosome 21 at both ends, and the ends of the chromosome join together to form a ring. (rarediseases.org)