Chromosome Breakage: A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.Translocation, Genetic: A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.Chromosome Breakpoints: The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.Chromosome Banding: Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Karyotyping: Mapping of the KARYOTYPE of a cell.Chromosomes: In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)X Chromosome: The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.Chromosomes, Human, Pair 11: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 1: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Sex Chromosomes: The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)Chromosome Deletion: Actual loss of portion of a chromosome.Chromosomes, Human, Pair 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human: Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 17: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 14: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 9: A specific pair of GROUP C CHROMSOMES of the human chromosome classification.Chromosome Inversion: An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.In Situ Hybridization, Fluorescence: A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.Chromosomes, Human, Pair 6: A specific pair GROUP C CHROMSOMES of the human chromosome classification.Chromosomes, Bacterial: Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosome Segregation: The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.Chromosomes, Human, Pair 21: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 4: A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.Chromosomes, Human, 6-12 and X: The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.Chromosome Disorders: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)Chromosomes, Human, Pair 2: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Human, Pair 8: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 16: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 15: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Plant: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.Chromosomes, Fungal: Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosomes, Human, Pair 18: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Mammalian: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.Chromosomes, Human, Pair 13: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 10: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Artificial, Bacterial: DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.Chromosomes, Human, Pair 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Artificial, Yeast: Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.Chromosome Painting: A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.Chromosomes, Human, Pair 19: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 5: One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).Chromosomes, Human, X: The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.Chromosome Pairing: The alignment of CHROMOSOMES at homologous sequences.Chromosomes, Human, Y: The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.Chromosomes, Human, 13-15: The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.Chromosomes, Human, 1-3: The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Chromosomes, Human, Pair 20: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Chromosomes, Human, 16-18: The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.Chromosomes, Human, 21-22 and Y: The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Ring Chromosomes: Aberrant chromosomes with no ends, i.e., circular.Recombination, Genetic: Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.Chromosomes, Insect: Structures within the CELL NUCLEUS of insect cells containing DNA.Chromosomes, Human, 4-5: The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.Hybrid Cells: Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.Centromere: The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.Chromosome Positioning: The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.Blotting, Southern: A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.Meiosis: A type of CELL NUCLEUS division, occurring during maturation of the GERM CELLS. Two successive cell nucleus divisions following a single chromosome duplication (S PHASE) result in daughter cells with half the number of CHROMOSOMES as the parent cells.X Chromosome Inactivation: A dosage compensation process occurring at an early embryonic stage in mammalian development whereby, at random, one X CHROMOSOME of the pair is repressed in the somatic cells of females.Metaphase: The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.Cloning, Molecular: The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Chromosome Fragility: Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Aneuploidy: The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).Abnormalities, MultiplePolymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Microsatellite Repeats: A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).Nucleic Acid Hybridization: Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)Chromosome Structures: Structures which are contained in or part of CHROMOSOMES.Chromosomes, Human, 19-20: The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.Mitosis: A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.Chromosome Walking: A technique with which an unknown region of a chromosome can be explored. It is generally used to isolate a locus of interest for which no probe is available but that is known to be linked to a gene which has been identified and cloned. A fragment containing a known gene is selected and used as a probe to identify other overlapping fragments which contain the same gene. The nucleotide sequences of these fragments can then be characterized. This process continues for the length of the chromosome.DNA Probes: Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.Chromosome Fragile Sites: Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.)Crosses, Genetic: Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.DNA: A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.Sequence Tagged Sites: Short tracts of DNA sequence that are used as landmarks in GENOME mapping. In most instances, 200 to 500 base pairs of sequence define a Sequence Tagged Site (STS) that is operationally unique in the human genome (i.e., can be specifically detected by the polymerase chain reaction in the presence of all other genomic sequences). The overwhelming advantage of STSs over mapping landmarks defined in other ways is that the means of testing for the presence of a particular STS can be completely described as information in a database.Lod Score: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."Models, Genetic: Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.Philadelphia Chromosome: An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE).Repetitive Sequences, Nucleic Acid: Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).Cosmids: Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.DNA, Neoplasm: DNA present in neoplastic tissue.Nondisjunction, Genetic: The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none.Genome, Human: The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Cytogenetic Analysis: Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.Telomere: A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Multigene Family: A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)Comparative Genomic Hybridization: A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences. It is used to look for large sequence changes such as deletions, duplications, amplifications, or translocations.Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)DNA, Satellite: Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.Gene Dosage: The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.Gene Duplication: Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.Haplotypes: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.Mosaicism: The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Syndrome: A characteristic symptom complex.Microbial Sensitivity Tests: Any tests that demonstrate the relative efficacy of different chemotherapeutic agents against specific microorganisms (i.e., bacteria, fungi, viruses).Genes: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.Segmental Duplications, Genomic: Low-copy (2-50) repetitive DNA elements that are highly homologous and range in size from 1000 to 400,000 base pairs.Monosomy: The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.DNA-Binding Proteins: Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.Chromosomal Instability: An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.Cytogenetics: A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.Chromosome Duplication: An aberration in which an extra chromosome or a chromosomal segment is made.Proto-Oncogenes: Normal cellular genes homologous to viral oncogenes. The products of proto-oncogenes are important regulators of biological processes and appear to be involved in the events that serve to maintain the ordered procession through the cell cycle. Proto-oncogenes have names of the form c-onc.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Sequence Homology, Nucleic Acid: The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.Chromosomes, Artificial, Human: DNA constructs that are composed of, at least, all elements, such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, required for successful replication, propagation to and maintainance in progeny human cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.Kinetochores: Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.Isochromosomes: Metacentric chromosomes produced during MEIOSIS or MITOSIS when the CENTROMERE splits transversely instead of longitudinally. The chromosomes produced by this abnormal division are one chromosome having the two long arms of the original chromosome, but no short arms, and the other chromosome consisting of the two short arms and no long arms. Each of these isochromosomes constitutes a simultaneous duplication and deletion.Contig Mapping: Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.Proto-Oncogene Proteins c-bcr: Proto-oncogene protein bcr is a serine-threonine kinase that functions as a negative regulator of CELL PROLIFERATION and NEOPLASTIC CELL TRANSFORMATION. It is commonly fused with cellular abl protein to form BCR-ABL FUSION PROTEINS in PHILADELPHIA CHROMOSOME positive LEUKEMIA patients.Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Prader-Willi Syndrome: An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)Genetic Variation: Genotypic differences observed among individuals in a population.Chromosomal Proteins, Non-Histone: Nucleoproteins, which in contrast to HISTONES, are acid insoluble. They are involved in chromosomal functions; e.g. they bind selectively to DNA, stimulate transcription resulting in tissue-specific RNA synthesis and undergo specific changes in response to various hormones or phytomitogens.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Physical Chromosome Mapping: Mapping of the linear order of genes on a chromosome with units indicating their distances by using methods other than genetic recombination. These methods include nucleotide sequencing, overlapping deletions in polytene chromosomes, and electron micrography of heteroduplex DNA. (From King & Stansfield, A Dictionary of Genetics, 5th ed)Spindle Apparatus: A microtubule structure that forms during CELL DIVISION. It consists of two SPINDLE POLES, and sets of MICROTUBULES that may include the astral microtubules, the polar microtubules, and the kinetochore microtubules.Polymorphism, Genetic: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.DNA Primers: Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.Diploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.Nuclear Proteins: Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.Genomic Structural Variation: Contiguous large-scale (1000-400,000 basepairs) differences in the genomic DNA between individuals, due to SEQUENCE DELETION; SEQUENCE INSERTION; or SEQUENCE INVERSION.Interphase: The interval between two successive CELL DIVISIONS during which the CHROMOSOMES are not individually distinguishable. It is composed of the G phases (G1 PHASE; G0 PHASE; G2 PHASE) and S PHASE (when DNA replication occurs).Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Polymorphism, Restriction Fragment Length: Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.DNA Breaks: Interruptions in the sugar-phosphate backbone of DNA.Myeloid-Lymphoid Leukemia Protein: Myeloid-lymphoid leukemia protein is a transcription factor that maintains high levels of HOMEOTIC GENE expression during development. The GENE for myeloid-lymphoid leukemia protein is commonly disrupted in LEUKEMIA and combines with over 40 partner genes to form FUSION ONCOGENE PROTEINS.DNA Transposable Elements: Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Karyotype: The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)Sequence Alignment: The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.Introns: Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.Species Specificity: The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.DNA Replication: The process by which a DNA molecule is duplicated.Chromosomes, Human, Pair 3: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Loss of Heterozygosity: The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.Chromatids: Either of the two longitudinally adjacent threads formed when a eukaryotic chromosome replicates prior to mitosis. The chromatids are held together at the centromere. Sister chromatids are derived from the same chromosome. (Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Alu Elements: The Alu sequence family (named for the restriction endonuclease cleavage enzyme Alu I) is the most highly repeated interspersed repeat element in humans (over a million copies). It is derived from the 7SL RNA component of the SIGNAL RECOGNITION PARTICLE and contains an RNA polymerase III promoter. Transposition of this element into coding and regulatory regions of genes is responsible for many heritable diseases.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Gene Order: The sequential location of genes on a chromosome.Azure Stains: PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.Gene Amplification: A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.Genes, Lethal: Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Drosophila: A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.Homozygote: An individual in which both alleles at a given locus are identical.Cell Cycle Proteins: Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.Polytene Chromosomes: Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.Transcription, Genetic: The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.Polyploidy: The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Chromatin: The material of CHROMOSOMES. It is a complex of DNA; HISTONES; and nonhistone proteins (CHROMOSOMAL PROTEINS, NON-HISTONE) found within the nucleus of a cell.Plasmids: Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Oncogene Proteins, Fusion: The GENETIC TRANSLATION products of the fusion between an ONCOGENE and another gene. The latter may be of viral or cellular origin.Oncogenes: Genes whose gain-of-function alterations lead to NEOPLASTIC CELL TRANSFORMATION. They include, for example, genes for activators or stimulators of CELL PROLIFERATION such as growth factors, growth factor receptors, protein kinases, signal transducers, nuclear phosphoproteins, and transcription factors. A prefix of "v-" before oncogene symbols indicates oncogenes captured and transmitted by RETROVIRUSES; the prefix "c-" before the gene symbol of an oncogene indicates it is the cellular homolog (PROTO-ONCOGENES) of a v-oncogene.Genomic Library: A form of GENE LIBRARY containing the complete DNA sequences present in the genome of a given organism. It contrasts with a cDNA library which contains only sequences utilized in protein coding (lacking introns).Anti-Bacterial Agents: Substances that reduce the growth or reproduction of BACTERIA.Prophase: The first phase of cell nucleus division, in which the CHROMOSOMES become visible, the CELL NUCLEUS starts to lose its identity, the SPINDLE APPARATUS appears, and the CENTRIOLES migrate toward opposite poles.AT Rich Sequence: A nucleic acid sequence that contains an above average number of ADENINE and THYMINE bases.Genetic Loci: Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.DNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Saccharomyces cerevisiae: A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Spectral Karyotyping: The simultaneous identification of all chromosomes from a cell by fluorescence in situ hybridization (IN SITU HYBRIDIZATION, FLUORESCENCE) with chromosome-specific florescent probes that are discerned by their different emission spectra.Leukemia, Myeloid: Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (MYELOID PROGENITOR CELLS) in the bone marrow and other sites.Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.Angelman Syndrome: A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)Genomic Imprinting: The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)DNA Restriction Enzymes: Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.Burkitt Lymphoma: A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative.Ploidies: The degree of replication of the chromosome set in the karyotype.Sex Chromosome Disorders: Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).Spermatocytes: Male germ cells derived from SPERMATOGONIA. The euploid primary spermatocytes undergo MEIOSIS and give rise to the haploid secondary spermatocytes which in turn give rise to SPERMATIDS.Genes, X-Linked: Genes that are located on the X CHROMOSOME.Genes, Insect: The functional hereditary units of INSECTS.DNA Copy Number Variations: Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.Restriction Mapping: Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.

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

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

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

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

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

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

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

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

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Abstract: We present an overview of the Bellerophon software system, which has been built to support CHIMERA, a production-level HPC application that simulates the evolution of core-collapse supernovae. Developed over the last 5 years at ORNL, Bellerophon enables CHIMERAs geographically dispersed team of collaborators to perform job monitoring and real-time data analysis from multiple supercomputing resources, including platforms at OLCF, NERSC, and NICS. Its multi-tier architecture provides an encapsulated, end-to-end software solution that enables the CHIMERA team to quickly and easily access highly customizable animated and static views of results from anywhere in the world via a cross-platform desktop application. Bellerophons robust artifact management system enables complete provenance tracking and provides direct access to all data files, renderings, and associated metadata though the client-side user interface. Bellerophon has quickly evolved into the CHIMERA teams de facto workflow ...
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. ...
Read "Breakpoint mapping positions the callipyge gene within a 450-kilobase chromosome segment containing the DLK1 and GTL2 genes, Mammalian Genome" on DeepDyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips.
Looking for Chimarism? Find out information about Chimarism. see Bellerophon Bellerophon , in Greek mythology, son of Glaucus originally called Hipponoüs. He changed his name after he murdered a countryman and was... Explanation of Chimarism
My laboratory focuses on the molecular characterization of human chromosome abnormalities. Molecular methods such as fluorescence in situ hybridization (FISH) mapping using YAC or BAC clones, microsatellite allelotyping, and sequencing analysis of SNP variants and gene mutations have been used. We are initiating high through-put chromosome-specific and genome-wide array-based analysis for mapping segmental deletions/duplication and sequencing rearrangement breakpoints. The goals of this laboratory are to identify disease-causing genes or genetic markers of diagnostic and prognostic values, and to dissect underlying molecular mechanisms.. ...
Various approaches for controlling simulation of an electronic system are disclosed. In one approach, at least one breakpoint block is instantiated in a high-level design. The breakpoint block has an associated breakpoint condition driven by at least one signal of the design, and the design further includes at least one simulation block and at least one co-simulation block. The simulation block is simulated on a software-based simulation platform, and the co-simulation block and the breakpoint block are co-simulated on a hardware-based co-simulation platform. Advancement of a clock signal to the co-simulation block on the hardware-based co-simulation platform is inhibited in response to satisfaction of the breakpoint condition. After inhibiting the clock signal, advancement of steps of the clock signal is controlled on the co-simulation platform in one of a plurality of user-selectable clock advancement modes.
A streams manager monitors data tuples processed by a streaming application represented by an operator graph. The streams manager includes a tuple breakpoint mechanism that allows defining a tuple breakpoint that fires when a tuple has been in the operator graph too long. What constitutes too long can be defined in a number of different ways, including a time limit, a processing limit for multiple operators, and a processing limit for an individual operator. When the tuple breakpoint fires, one or more operators in the operator graph are halted according to specified halt criteria. Information corresponding to the breakpoint that fired is then displayed. The tuple breakpoint mechanism thus provides a way to debug a streaming application that may have data tuples that stay in the operator graph too long.
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Find all books from A.B. Harris - Breakpoint: Stress and the Crisis of Modern Living. At find-more-books.com you can find used, antique and new books, COMPARE results and immediately PURCHASE your selection at the best price. 0855000937
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Enhanced Reduced Representation Bisulfite Sequencing is a method for the preparation of sequencing libraries for DNA methylation...
It then assumes some esoteric quality for those wise enough to grasp the enormity of these simple, all be in antiquated truths.. In my own merited arrogance, for instance, I oft reflect upon the Ancient Wisdom of Bellerophon, who after a succession of heroic deeds, and in particular his victory over the chimera - which was won with the aid of his winged horse Pegasus, Bellerophon tried to seize the throne of Zeus. The gods in council symbolize the law which confines mans aims and ambitions within just bounds, while Bellerophons attempt typifies mans vanity developed into a perverted desire to dominate. cloaked in the form of the highest degree of daring. Defeated, Bellerophon was confined in Hell with other ambitious figures. Imagine that - failed ambitions reserves a place in hell, do they? Poor sports!. What exactly is there to glean from Bellerophons victory over the chimera? A hybrid monster with a Lions head, a Goats body and a Dragons tail, begotten by Typhon on Echidna, whose ...
Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations ...
Feel welcome to come and check the jungle for tons of articles, interesting tutorials, creative competitions and the simple joy of happy painting hidden behind every tree. We hope that everyone finds their own banana in here, if not do not hesitate to ask the apes. We are more than happy for you to post in the comments section to help turn this jungle into the lush, overgrown painting corner we hope it will become ...
During my first few years teaching at Columbia Law School, I encountered a reminder of the laws conventional opposition of reason and emotion whenever I looked out my office window, which opened up into the bowels of a famous Jacques Lipchitz statue of Bellerophon taming Pegasus. That office was considered undesirable (which is why I had it as a junior faculty member), and it was later turned into open space during building renovations, but I found the view through the statue interesting (albeit less conducive to quiet thought than my current views of Cayuga Lake and a waterfall). In any event, the statue was meant to symbolize Law (Bellerophon) bringing passion (Pegasus) under its control. As my former colleague Peter Strauss used to note, however, if you look closely at the statue you see something more like the opposite: Pegasus begins where Bellerophons head should be, suggesting that passion has overtaken reason; Professor Strauss would also note that Lipchitz agreed to create the statue ...
Introduction: EWS-FLI1 and related chromosomal translocations are prevalent in Ewing sarcoma and play a major role in modulating oncogenic transcription. Development of drugs that affect EWS-FLI1 oncoprotein function may lead to successful treatment for these patients. Mithramycin (MTM) was shown to inhibit transcriptional targets of EWS-FLI1, but it has a narrow therapeutic window attributed to its nonspecific toxicities. To overcome this, semisynthetic methods were developed to generate MTM analogs with unique pharmacologic properties. Mechanistic and pharmacologic studies are presented here.. Methods: Studies were conducted using MTM and lead analogs (mithramycin-SK (MTM-SK), mithramycin-SA-tryptophan (MTM-SA-Trp), and mithramycin-SA-phenylalanine (MTM-SA-Phe)). EWS-FLI1 promoter occupancy was investigated using chromatin immunoprecipitation real-time PCR (ChIP-RTPCR). The effect of drug treatment on expression of genes controlled by EWS-FLI1 was evaluated by quantitative real-time PCR ...
Further we asked if VLA-4 and VLA-5 integrin upregulation is maintained by RUNX1/ETO in the transformed human leukemia cell line Kasumi-1, derived from a t(8;21)+ AML patient. Kasumi-1 cells, which express RUNX1/ETO and to a lesser extent RUNX1/ETOtr,4 bear high levels of VLA-4 whereas the integrin αL subunit is absent in these cells. We specifically down-regulated RUNX1/ETO via lentivirally delivered shRNA targeting the RUNX1/ETO breakpoint sequences (shRE), which are present in both full length and truncated forms (Online Supplementary Figure S3). At Day 4 after transduction with vectors co-expressing shRE and eGFP, α4, α5 and β1 expression levels were significantly reduced as assessed using flow cytometry, while CXCR4 levels remained unaltered (Figure 1I). Similar results were obtained with NHR2 competitive peptides (N89) (Figure 1J), which also interfere with both RUNX1/ETO forms by disrupting RUNX1/ETO tetramer formation.6 These results suggest that integrin subunit expression remains ...
hello again everyone. i have automated a tracks MIXER , VOLUME automation with a range of breakpoints in a sawtooth pattern, causing rapid swells that create a "bowing" volume effect -- one point at low, the next at high, the next at low, and so forth; rapidly (yet randomly) alternating.. now id like to trim a bit off all the high points without changing any of the bottom points.. i could use a compressor audio effect, but id like to see if i can do this by editing the automation.. essentially, im trying to find a way in LIVE to marquee a set of points horizontally, but limit the vertical range so that only a specific horizontal "strip" of points are selected, and then "squash" the entire top down a bit without changing the status of the bottom.. but as far as i can discover, within any given range of selected time you can either grab a single anchor point, or ALL the points within that time (even if some are ones you want to leave in place).. i have tried both pencil and arrow, no dice. and ...
Recombinant protein of human Ewing sarcoma breakpoint region 1 (EWSR1), transcript variant EWS, 20 ug available for purchase from OriGene - Your Gene Company.
Puritans sterile PurFlock Ultra flocked swab 25-3506-U features an elongated tip for effective collection of bacterial or micro-organisms.
Process has been suspended. This event can be used by the debugger module to signal if the process spontaneously gets suspended (not because of an exception, breakpoint, or single step). IDA will silently switch to the suspended process mode without displaying any messages. ...
Background Multiple genome alignment remains a challenging problem. Effects of recombination including rearrangement, segmental duplication, gain, and loss can create a mosaic pattern of homology even among closely related organisms. Methodology/Principal Findings We describe a new method to align two or more genomes that have undergone rearrangements due to recombination and substantial amounts of segmental gain and loss (flux). We demonstrate that the new method can accurately align regions conserved in some, but not all, of the genomes, an important case not handled by our previous work. The method uses a novel alignment objective score called a sum-of-pairs breakpoint score, which facilitates accurate detection of rearrangement breakpoints when genomes have unequal gene content. We also apply a probabilistic alignment filtering method to remove erroneous alignments of unrelated sequences, which are commonly observed in other genome alignment methods. We describe new metrics for quantifying ...
A Lycian king at Troy, son of Zeus and grandson of Bellerophon. He is killed by Patroklos, wearing Achilles armour. His body is shown being carried from the field by Sleep and Death (Hypnos and Thanatos) who are sometimes shown as warrior figures, and winged ...
An information processing system such as a microprocessor includes a processor core, a debug register circuit and a trace unit. The processor core is for processing information according to a program. The program includes a plurality of instructions for execution by the processor core. Each of the plurality of instructions has a corresponding address. The debug register circuit is coupled to the processor core. The debug register circuit includes a dedicated initiate trace breakpoint register coupled to receive and store an initiate trace address and a dedicated terminate trace breakpoint register coupled to receive and store a terminate trace address. The trace unit is coupled to the debug register circuit and the processor core. The trace unit initiates a program trace responsive to the program accessing the initiate trace address. The trace unit terminates the program trace responsive to the program accessing the terminate trace address. The program trace includes information regarding the execution
Category: BreakPoint, Christian Worldview. Tonight President Clinton will give his State of the Union address-and hell be giving it at a time when most..Read more ...
Chromosomal translocations are genetic hallmarks of most cancer cells. Translocations require the formation of DNA double-strand breaks (DSBs) at two or more genomic loci, followed by the illegitimate joining of broken chromosomal ends through DNA repair. There is increasing evidence that translocations occur at non-random sites in the genome, suggesting that certain regions of the genome are more susceptible to DNA breakage than others. We hypothesize that altered chromatin structure predisposes genomic sites to DNA breakage and translocations. To identify chromatin features that facilitate translocations, we have mapped histone modifications and DNase I hypersensitive sites (DHSs) at translocation-prone regions in anaplastic large cell lymphoma (ALCL) precursor cells. We find enrichment of active histone marks and a decrease in repressive marks near frequent translocation breakpoints. In a complementary approach using genome-wide histone modification mapping we have identified altered ...
Malignant lymphomas are classified based on morphology, immunophenotype, genetics and clinical features. The pathological diagnosis is generally considered difficult and prone to mistakes. Since non-random chromosomal translocations are specifically involved in specific entities, their detection is an important adjunct for increasing the reliability of the diagnosis. Recently, split-signal fluorescent in situ hybridization (FISH) has become available as a robust method to detect chromosomal breaks in paraffin embedded formalin fixed tissues. A bright field approach would bring this technology within the reach of every laboratory of pathology. Our study was initiated to prove consistency between chromogenic in situ hybridization (DuoCISH) and FISH, both using split signal probes developed for the detection of chromosomal breaks. 540 cases of 11 lymphoma entities and reactive, benign lymphoid tissues, collected from 8 different laboratories of pathology, placed on 15 FISH pre-stained tissue micro ...
Background Duplications and deletions in the human genome can cause disease or predispose persons to disease. Advances in technologies to detect these changes allow for the routine identification of submicroscopic imbalances in large numbers of patients. Methods We tested for the presence of microdeletions and microduplications at a specific region of chromosome 1q21.1 in two groups of patients with unexplained mental retardation, autism, or congenital anomalies and in unaffected persons. Results We identified 25 persons with a recurrent 1.35-Mb deletion within 1q21.1 from screening 5218 patients. The microdeletions had arisen de novo in eight patients, were inherited from a mildly affected parent in three patients, were inherited from an apparently unaffected parent in six patients, and were of unknown inheritance in eight patients. The deletion was absent in a series of 4737 control persons (P=1.1x10?7). We found considerable variability in the level of phenotypic expression of the ...
EWSR1 - EWSR1 (Myc-DDK-tagged)-Human Ewing sarcoma breakpoint region 1 (EWSR1), transcript variant 1 available for purchase from OriGene - Your Gene Company.
Scattergram #2 -- Correlation of TMP/SMX MIC and zone diameters for S. pneumoniae. Horizontal and vertical lines represent MIC and zone diameter breakpoints. In this case, the isolates form a continuum, with the breakpoint for resistant and susceptible not being obvious. In this case one can not predict how the isolates which fall into the intermediate zone will behave in vivo. The breakpoints are set to maximize the predictive value of the test while minimizing errors (ie. it is preferable to call an isolate intermediate, than to incorrectly call it sensitive or resistant ...
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P{y[+t7.7]=3wHy} associated with end of Df; Hobo element may be mobilized if crossed to H strain, B.G. Cytological breakpoints estimated from molecular breakpoints, K.C ...
The debug status register shown in Figure 12-1 permits the debugger to determine which debug conditions have occurred. When the processor detects an enabled debug exception, it sets the low-order bits of this register (B0 thru B3) before entering the debug exception handler. Bn is set if the condition described by DRn, LENn, and R/Wn occurs. (Note that the processor sets Bn regardless of whether Gn or Ln is set. If more than one breakpoint condition occurs at one time and if the breakpoint trap occurs due to an enabled condition other than n, Bn may be set, even though neither Gn nor Ln is set.) The BT bit is associated with the T-bit (debug trap bit) of the TSS (refer to 7 for the location of the T-bit). The processor sets the BT bit before entering the debug handler if a task switch has occurred and the T-bit of the new TSS is set. There is no corresponding bit in DR7 that enables and disables this trap; the T-bit of the TSS is the sole enabling bit. The BS bit is associated with the TF (trap ...
Tumors of the hematopoietic and lymphoid tissues or haematopoietic and lymphoid malignancies are tumors that affect the blood, bone marrow, lymph, and lymphatic system. As those elements are all intimately connected through both the circulatory system and the immune system, a disease affecting one will often affect the others as well, making myeloproliferation and lymphoproliferation (and thus the leukemias and the lymphomas) closely related and often overlapping problems. While uncommon in solid tumors, chromosomal translocations are a common cause of these diseases. This commonly leads to a different approach in diagnosis and treatment of haematological malignancies. Haematological malignancies are malignant neoplasms ("cancer"), and they are generally treated by specialists in hematology and/or oncology. In some centers "Haematology/oncology" is a single subspecialty of internal medicine while in others they are considered separate divisions (there are also surgical and radiation ...
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Activists aboard the Greenpeace ship, Arctic Sunrise unfurl a banner reading Dont Wreck The Arctic while a team of activists attach themselves to the anchor chain of the Anna Akhmatova and chain their inflatable to it, preventing the ship from lifting anchor and sailing to the Prirazlomnaya oil platform to complete the work that will allow them to begin drilling in this fragile region.
Andre regimer kan foreslås i udvalgte tilfælde, men dette bør altid aftales med den klinisk mikrobiologiske afdeling efter resistensbestemmelse. * Der anvendes EUCAST-grænseværdier (breakpoints). For de non-hæmolytiske streptokokker anvendes EUCAST pneumokok breakpoints for moxifloxacin og rifampicin. ** Der er ikke defineret noget EUCAST breakpoint for E. faecalis og moxifloxacin. Der anvendes S: MIC ≤ 0.5 mg/l. Det er op til den enkelte klinisk mikrobiologiske afdeling, hvilken metode man anvender til resistensbestemmelse af de enkelte antibiotika. *** Ikke markedsført, men kan med udleveringstilladelse fra Lægemiddelstyrelsen rekvireres fra apotek eller sygehusapotek. ...
Cilicia was settled from the Neolithic period onwards.[6][7] Dating of the ancient settlements of the region from Neolithic to Bronze Age is as follows: Aceramic/Neolithic: 8th and 7th millennia BC; Early Chalcolithic: 5800 BC; Middle Chalcolithic (correlated with Halaf and Ubaid developments in the east): ca. 5400-4500 BC; Late Chalcolithic: 4500- ca. 3400 BC; and Early Bronze Age IA: 3400-3000 BC; EBA IB: 3000-2700 BC; EBA II: 2700-2400 BC; EBA III A-B: 2400-2000 BC.[7]:168-170. The area had been known as Kizzuwatna in the earlier Hittite era (2nd millennium BC). The region was divided into two parts, Uru Adaniya (flat Cilicia), a well-watered plain, and "rough" Cilicia (Tarza), in the mountainous west.. The Cilicians appear as Khilikku in Assyrian inscriptions, and in the early part of the first millennium BC were one of the four chief powers of western Asia. Homer mentions the plain as the "Aleian plain" in which Bellerophon wandered,[8] but he transferred the Cilicians far to the west and ...
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 ...
Exhaustive breakdown of the skill and passive choices for playing TragOul Blood Mages Necromancer in Diablo 3, along with synergies, rotation and breakpoints (if applicable).
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Introduction Ewing sarcomas (ES) and primitive neuroectodermal tumors (PNET) are related childhood tumors. They have in common a t(11;22)(q24;q12), which occurs in 85% of cases 1, 2. Variants of this translocation have been reported with the most common being t(21;22)(q22;q12) occurring in >10% of ES cases [2] and the least frequent being t(7;22)(p22;q12) [3], t(17;22)(q12;q12) [4], and t(2;22)(q33;q12). In all these rearrangements, the EWS gene localized to 22q12 fuses to genes of the ETS family: FLI1 at 11q24, ERG at 21q22, ETVI at 7p22, EIAF at 17q12, and FEV at 2q33 (for review see ref. [5]). In addition to the primary abnormality t(11;22), nonrandom secondary changes have been observed. Trisomy 8 occurs in 44% and der(16)t(1;16) in 18% of ES cases [6]. Chromosomal translocations are the most common mechanism that lead to EWS gene fusion to ETS-family genes. Insertion of chromosomal material is another mechanism, which may result in gene fusion. This was observed in one case of ES in which ...
TY - JOUR. T1 - Risk of non-Hodgkin lymphoma associated with germline variation in genes that regulate the cell cycle, apoptosis, and lymphocyte development. AU - Morton, Lindsay M.. AU - Purdue, Mark P.. AU - Zheng, Tongzhang. AU - Wang, Sophia S.. AU - Armstrong, Bruce. AU - Zhang, Yawei. AU - Menashe, Idan. AU - Chatterjee, Nilanjan. AU - Davis, Scott. AU - Lan, Qing. AU - Vajdic, Claire M.. AU - Severson, Richard K.. AU - Holford, Theodore R.. AU - Kricker, Anne. AU - Cerhan, James R.. AU - Leaderer, Brian. AU - Grulich, Andrew. AU - Yeager, Meredith. AU - Cozen, Wendy. AU - Zahm, Shelia Hoar. AU - Chanock, Stephen J.. AU - Rothman, Nathaniel. AU - Hartge, Patricia. PY - 2009/4/1. Y1 - 2009/4/1. N2 - Chromosomal translocations are the hallmark genetic aberration in non-Hodgkin lymphoma (NHL), with specific translocations often selectively associated with specific NHL subtypes. Because many NHL-associated translocations involve cell cycle, apoptosis, and lymphocyte development regulatory ...
The DBGp Server (IDE) has to know where to find the source files related to the debug information shared with the DBGp client (debugged application). E.g. When you set a breakpoint, the IDE need to say to the running application on which file the breakpoint must be added. E.g. When the running application stops on a breakpoint of a file, the IDE must retrieve the file and open it. The problem is that the file executed in your Lua VM could be physically different than the source file in your IDE (in your workspace). For instance, the code may be executed on a different host or even just duplicated in another folder on the same desktop. To solve this problem, Koneki LDT comes with several policies, each of them having its own pros and cons: ...
The FATE gene maps to Xq28 where one case of a translocation breakpoint has been found in an infertile man. Moreover, the FATE promoter contains a putative SF-1-binding site, and F
Born in Westfield by Ayr, in Ayrshire. Dunlop was promoted to the rank of Lieutenant on 1 April, 1907.[1] Dunlop fractured his left fibula while serving in Bellerophon, requiring his admission to Portland Hospital on 11 March 1910. He was found fit on 15 May. On 2 November, 1911 he was superseded and was appointed to the Beagle Class destroyer Wolverine as first officer. He stayed in her until moving over to provide the same services in the destroyer Nautilus on 6 August, 1912. On 28 October, 1912, Dunlop was appointed in command of the first-class torpedo boat T.B. 6.[2] Dunlop was appointed in command of the destroyer Leven on 20 January, 1914.[3] Dunlop was promoted to the rank of Lieutenant-Commander on 1 April, 1916. On 5 November 1917, Dunlop was acquitted in a Court Martial on a charge of negligence for allowing the armed yacht U.S.S. Nahma to fire on an Italian submarine. He pled guilty, however, at a second Court Martial held at the end of the month to a charge of being drunk on board ...
Copy number variants (CNVs) on the Breakpoint 1 to Breakpoint 2 region Ki8751 at 15q11. of publically obtainable expression data identified a relationship between expression of mRNA and FOXP2 in mind. We suggest that changed medication dosage through aberrant patterning from the lh.SMG may donate to language-related Mouse monoclonal to CD11b.4AM216 reacts with CD11b, a member of the integrin a chain family with 165 kDa MW. which is expressed on NK cells, monocytes, granulocytes and subsets of T and B cells. It associates with CD18 to form CD11b/CD18 complex.The cellular function of CD11b is on neutrophil and monocyte interactions with stimulated endothelium; Phagocytosis of iC3b or IgG coated particles as a receptor; Chemotaxis and apoptosis. Ki8751 issues connected with BP1-2 CNVs. Even more generally this process may be useful in clarifying the contribution Ki8751 of individual genes at CNV risk loci. Introduction Rare multi-gene copy number variants (CNVs) are well established to increase ...
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Edelmann L, Spiteri E, McCain N, Goldberg R, Pandita RK, Duong S, Fox J, Blumenthal D, Lalani SR, Shaffer LG, Morrow BE, A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation. Am J Hum Genet65(6):1608-16 ...
Bellerophon Therapeutics announced on July 27 that top-line results from a clinical trial found its investigational cardiac implantable device did not improve outcomes compared with placebo.
Promega Corporation announced today that it has launched GoTaq® Long PCR Master Mix, an optimized enzyme mixture for improved long-range PCR. The new kit enhances PCR yield, sensitivity and specificity and enables efficient amplification of up to 40kb from lambda DNA or 30kb from human genomic DNA.
This gene encodes a DNA-binding protein which specifically recognizes conserved target sequences at the breakpoint junction of chromosomal translocations. Translin polypeptides form a multimeric structure that is responsible for its DNA-binding activity. Recombination-associated motifs and translin-binding sites are present at recombination hotspots and may serve as indicators of breakpoints in genes which are fused by translocations. These binding activities may play a crucial role in chromosomal translocation in lymphoid neoplasms. This protein encoded by this gene, when complexed with translin-associated protein X, also forms a Mg ion-dependent endoribonuclease that promotes RNA-induced silencing complex (RISC) activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012 ...
TSNAX Full-Length MS Protein Standard (NP_005990), Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine, was produced in human 293 cells (HEK293) with fully chemically defined cell culture medium to obtain incorporation efficiency at Creative-Proteomics. This gene encodes a protein which specifically interacts with translin, a DNA-binding protein that binds consensus sequences at breakpoint junctions of chromosomal translocations. The encoded protein contains bipartite nuclear targeting sequences that may provide nuclear transport for translin, which lacks any nuclear targeting motifs.
Drake runs to the elevator...Morris just glares up at his manager and teacher and just walks off following slowly his fleeing comrad. Logan turns to face the camera man and begins to speak... Logan:"Ruthless Agression. My ignorant counterparts Thomas Drake and Russel Morris have already established that it is infact a team,and not a noun and adjective. But to what I owe you to criticize my method of teaching these bastard "children" of mine? Have you any idea Prime of what it takes to actually smack something of importance or use into their young and naive minds? Tony you hit on such an excellent point...they dont know what they want...need or deserve. In their minds its crystal clear that they have a chance agianst you...but vendettas is no reason for me to send in too possibly gifted athletes in the ring with you two demonic butchers. Im hoping you guys can instill something they lack...fear. Drake is truly mocking the authority you place and before you get to gung ho on you chances of a ...
If you choose Structural Aberrations, you must select at least one of the following fields: Breakpoint, Topography, Morphology, or Gene ...
浜松市城西浄化センターにおけるMBRの初期運転について (第46回下水道研究発表会講演集) (2009 ...
The product of this gene belongs to the family of highly homologous synovial sarcoma, X (SSX) breakpoint proteins. These ... Chromosomes & Cancer. 34 (3): 285-98. doi:10.1002/gcc.10073. PMID 12007189. Güre AO, Wei IJ, Old LJ, Chen YT (October 2002). " ... X breakpoint 5". dos Santos NR, de Bruijn DR, van Kessel AG (January 2001). "Molecular mechanisms underlying human synovial ... sarcoma development". Genes, Chromosomes & Cancer. 30 (1): 1-14. doi:10.1002/1098-2264(2000)9999:9999<::AID-GCC1056>3.0.CO;2-G ...
Chromosome Xp11 contains a segmental duplication resulting in two identical copies of synovial sarcoma, X breakpoint 4, SSX4 ... This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on ... The product of this gene belongs to the family of highly homologous synovial sarcoma, X (SSX) breakpoint proteins. These ... 2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325-37. doi:10.1038/nature03440. PMC 2665286 . PMID ...
"Molecular analysis of acute promyelocytic leukemia breakpoint cluster region on chromosome 17". Science. 249 (4976): 1577-80. ... "High-density genetic map of the BRCA1 region of chromosome 17q12-q21". Genomics. 17 (3): 618-23. doi:10.1006/geno.1993.1381. ...
This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by expanding ... The product of this gene belongs to the family of highly homologous synovial sarcoma, X (SSX) breakpoint proteins. These ... 2003). "A novel fusion gene, SS18L1/SSX1, in synovial sarcoma". Genes Chromosomes Cancer. 37 (2): 195-200. doi:10.1002/gcc. ... This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on ...
Chromosome Xp11 contains a segmental duplication resulting in two identical copies of synovial sarcoma, X breakpoint 4, SSX4 ... SSX4, CT5.4, synovial sarcoma, X breakpoint 4, SSX family member 4. External IDs. OMIM: 300326 MGI: 2446771 HomoloGene: 133052 ... This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on ... The product of this gene belongs to the family of highly homologous synovial sarcoma, X (SSX) breakpoint proteins. These ...
The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein ... "Entrez Gene: Breakpoint cluster region". "Entrez Gene: BCR breakpoint cluster region". Zhao X, Ghaffari S, Lodish H, ... A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients ... the gene at the chromosome 9 breakpoint. The Bcr-Abl oncoprotein oligomerisation domain found at the N-terminus of BCR is ...
The majority of deletions have breakpoints between 45,405,887 and the tip of the chromosome. There are no common breakpoints, ... The Chromosome 18 Registry & Research Society Chromosome 18 Clinical Research Center, University of Texas Health Science Center ... which typically have a breakpoint distal to 18q21.1 (45.4 Mb) and extend to the end of the chromosome. If possible, it is ... A routine chromosome analysis, or karyotype, is usually used to make the initial diagnosis, although it may also be made by ...
1984). "Philadelphia chromosomal breakpoints are clustered within a limited region, bcr, on chromosome 22". Cell. 36 (1): 93-9 ...
1984). "Philadelphia chromosomal breakpoints are clustered within a limited region, bcr, on chromosome 22". Cell. 36 (1): 93-9 ... 1987). "The chronic myelocytic cell line K562 contains a breakpoint in bcr and produces a chimeric bcr/c-abl transcript". Mol. ... 1984). "Localization of the c-ab1 oncogene adjacent to a translocation break point in chronic myelocytic leukaemia". Nature. ... Litz CE, McClure JS, Copenhaver CM, Brunning RD (1993). "Duplication of small segments within the major breakpoint cluster ...
"Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8". Human Genetics. 105 (6): 619-28 ... "A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location ...
... it was realized that chromosomes that reciprocally translocate to chromosome 8 contained immunoglobulin genes at the break- ... Cloning the break-point of the fusion chromosomes revealed a gene that was similar to myelocytomatosis viral oncogene (v-Myc). ... chromosome organization. • MAPK cascade. • cellular response to DNA damage stimulus. • positive regulation of cysteine-type ... In the human genome, Myc is located on chromosome 8 and is believed to regulate expression of 15% of all genes[8] through ...
Regardless of the chromosome involved in U-type exchange, the acentric fragment of the chromosome is lost, thus creating a ... Wolff, D. J.; Miller, A. P.; Van Dyke, D. L.; Schwartz, S.; Willard, H. F. (1996). "Molecular definition of breakpoints ... Acrocentric autosomal chromosomes 13, 14, 15, 21, and 22 are also common candidates for isochromosome formation. Chromosomes ... An isochromosome can be abbreviated as i(chromosome number and arm). For example, an isochromosome of chromosome 17 containing ...
... occur at different breakpoints; the chromosomal basis generally consists of a deletion on the short arm of chromosome 5. The ... One of them consists in micro-deletions of the chromosome region 15q11-q13. 70% of patients present a 5-7-Mb de novo deletion ... The mechanism is due to maternal meiotic non-disjunction followed by mitotic loss of the paternal chromosome 15 after ... The third cause for PWS is the disruption of the imprinting process on the paternally inherited chromosome 15 (epigenetic ...
A translocation between chromosome 14 and 18 results in the overexpression of the bcl-2 gene. As the bcl-2 protein is normally ... November 2005). "BCL6 alternative translocation breakpoint cluster region associated with follicular lymphoma grade 3B". Genes ... The bcl-2 gene is normally found on chromosome 18, and the translocation moves the gene near to the site of the immunoglobulin ... Chromosomes Cancer. 44 (3): 301-4. doi:10.1002/gcc.20246. PMID 16075463. Musilova, K; Mraz, M (2014). "MicroRNAs in B cell ...
"Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH". ... Genes, Chromosomes & Cancer. 44 (3): 305-19. doi:10.1002/gcc.20243. PMID 16075461. Tachibana C (2015-08-18). "Transcriptomics ...
"Cloning of the chromosome breakpoint of neoplastic B cells with the t(14;18) chromosome translocation". Science. 226 (4678): ... which places the Bcl-2 gene from chromosome 18 next to the immunoglobulin heavy chain locus on chromosome 14. This fusion gene ... In follicular lymphoma, a chromosomal translocation commonly occurs between the fourteenth and the eighteenth chromosomes - t( ... as it is the second member of a range of proteins initially described in chromosomal translocations involving chromosomes 14 ...
Crossen PE, Kennedy MA, Heaton DC, Morrison MJ (1993). "Cloning and sequencing of a t(14;19) breakpoint that involves the C mu ... switch region". Genes Chromosomes Cancer. 8 (1): 60-2. doi:10.1002/gcc.2870080110. PMID 7691160. McKeithan TW, Ohno H, ...
About half of the people with deletions have a breakpoint at the centromere. Suspicion of a chromosome abnormality is typically ... The Chromosome 18 Registry & Research Society The Chromosome 18 Registry & Research Society in Europe Chromosome 18 Clinical ... A routine chromosome analysis, or karyotype, is usually used to make the initial diagnosis, although it may also be made by ... 18p- is a genetic condition caused by a deletion of all or part of the short arm (the p arm) of chromosome 18. It occurs in ...
Locus-specific probes are made for one side of the breakpoint and the other intact chromosome. In normal cells, the secondary ... The chromosomes can be seen in blue. The chromosome that is labeled with green and red spots (upper left) is the one where the ... Then, an interphase or metaphase chromosome preparation is produced. The chromosomes are firmly attached to a substrate, ... Probes that hybridize along an entire chromosome are used to count the number of a certain chromosome, show translocations, or ...
Three of the patients reported had a consistent proximal breakpoint on chromosome 2, but varying distal breakpoints. The ... 2p15-16.1 microdeletion is a rare genetic disorder caused by a small deletion in the short arm of human chromosome 2. First ...
Exact breakpoints vary. Proximal 18q- is caused by an interstitial deletion of chromosome 18 involving the proximal region of ... The Chromosome 18 Registry & Research Society Chromosome 18 Clinical Research Center, University of Texas Health Science Center ... Suspicion of a chromosome abnormality is typically raised due to the presence of developmental delays. Diagnosis of proximal ... Proximal 18q- is a rare genetic condition caused by a deletion of genetic material within one of the two copies of chromosome ...
"Identification of the TCL6 genes within the breakpoint cluster region on chromosome 14q32 in T-cell leukemia". Oncogene. 19 (23 ... It is expressed in T-cell leukemia with a t(14;14)(q11;q32.1) chromosome translocation in humans and in a mouse model. It is ...
An inversion is a chromosome rearrangement in which a segment of a chromosome is reversed end to end. An inversion occurs when ... Pericentric inversions include the centromere and there is a break point in each arm. Cytogenetic techniques may be able to ... Painter TS (1933). "A new method for the study of chromosome rearrangements and the plotting of chromosome maps". Science. 78 ( ... In insects with polytene chromosomes, for example Drosophila, preparations of larval salivary gland chromosomes allow ...
Bittel DC, Kibiryeva N, Butler MG (2006). "Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral ... 2003). "Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman ...
In humans, it is found on chromosome 7 in a locus spanning a translocation breakpoint associated with autism. It is antisense ... 2002). "The RAY1/ST7 tumor-suppressor locus on chromosome 7q31 represents a complex multi-transcript system". Genomics. 80 (3 ...
For example, the t(9;22) BCR-ABL translocation may occur over a large length of the chromosome which makes DNA-based testing ... breakpoints, and detection method validity". Leuk Res. 30 (6): 745-50. doi:10.1016/j.leukres.2005.10.001. PMID 16297448.. ...
Isolation and analysis of the breakpoint sequences of chromosome inversion In(3L)Payne in Drosophila melanogaster.. C S Wesley ... Isolation and analysis of the breakpoint sequences of chromosome inversion In(3L)Payne in Drosophila melanogaster. ... Isolation and analysis of the breakpoint sequences of chromosome inversion In(3L)Payne in Drosophila melanogaster. ... Isolation and analysis of the breakpoint sequences of chromosome inversion In(3L)Payne in Drosophila melanogaster. ...
... Macchia, Gemma; Hansén Nord, Karolin LU ; Zoli, Monica ... We found nine breakpoint cluster regions potentially involved in the genesis of RGM chromosomes,... (More). Gene amplification ... We found nine breakpoint cluster regions potentially involved in the genesis of RGM chromosomes, which turned out to be ... We found nine breakpoint cluster regions potentially involved in the genesis of RGM chromosomes, which turned out to be ...
The FHIT gene, spanning the chromosome 3p14.2 fragile site and renal carcinoma-associated t(3;8) breakpoint, is abnormal in ... A 200-300 kb region of chromosome 3p14.2, including the fragile site locus FRA3B, is homozygously deleted in multiple tumor- ... the remaining exons telomeric to this translocation breakpoint, and exon 5 within the homozygously deleted fragile region. ... untranslated exons centromeric to the renal carcinoma-associated 3p14.2 breakpoint, ...
Genes Chromosomes Cancer. 2000 May;28(1):106-20. Research Support, Non-U.S. Govt; Research Support, U.S. Govt, Non-P.H.S.; ... Genes Chromosomes Cancer. 2000 May;28(1):106-20.. Chromosome abnormalities in ovarian adenocarcinoma: III. Using breakpoint ... the non-random breakpoints in ovarian adenocarcinoma do not occur independently; (2) breakpoints in regions 1p3 and 11p1 are ... All our methods lead to strikingly consistent conclusions about chromosomal breakpoints in ovarian adenocarcinoma, including (1 ...
Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q. ... Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q. ... Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q. ...
A Chromosome Breakpoint Mapping Strategy to Identify Candidate Genes for Nonsyndromic X-linked Mental Retardation within Xp11.2 ... A Chromosome Breakpoint Mapping Strategy to Identify Candidate Genes for Nonsyndromic X-linked Mental Retardation within Xp11.2 ... A Chromosome Breakpoint Mapping Strategy to Identify Candidate Genes for Nonsyndromic X-linked Mental Retardation within Xp11.2 ... A Chromosome Breakpoint Mapping Strategy to Identify Candidate Genes for Nonsyndromic X-linked Mental Retardation within Xp11.2 ...
... mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome ... Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced ... Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced ... chromosome rearrangements with intellectual deficiency and/or congenital malformations. Journal of Medical Genetics 2013;50:144 ...
Molecular analysis of chromosome breakpoints in human chromosome 1 specific for malignant lymphoma. Research Project ... both of which contained marker chromosomes consisted with an insertional chromosome fragment derived from chromosome 1. ... As a result, all of the five cell lines had different breakpoints. The breakpoint of HMS, an in vivo cell line maintained in ... Narrowing the possible breakpoint is still on going.. On the other hand, we have established two independent cell lines from ...
"Breakpoint mapping positions the callipyge gene within a 450-kilobase chromosome segment containing the DLK1 and GTL2 genes, ... Breakpoint mapping positions the callipyge gene within a 450-kilobase chromosome segment containing the DLK1 and GTL2 genes. ... Breakpoint mapping positions the callipyge gene within a 450-kilobase chromosome segment containing the DLK1 and GTL2 genes. ... Breakpoint mapping positions the callipyge gene within a 450-kilobase chromosome segment... Berghmans, Stéphane ; Segers, Karin ...
... but the human PMS2L genes have not been positioned in the context of the physical or genetic map of chromosome 7. In this study ... have been localized to human chromosome 7. Human PMS2 has been mapped previously to 7p22 and shown to be causative in ... be present at at least three sites as part of duplicated genomic segments that flank the most common rearrangement breakpoints ... PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome ...
Identification of Chimeric Chromosome Break Points.. As schematized in Fig. 1, the presence of chimeric chromosomes in an S. ... When the PCR is performed using forward primers from one chromosome and reverse primers from another chromosome, the break ... Two chromosomes sharing an identical repeated sequence are shown. Orange, chromosome A (CHR A); purple, chromosome B (CHR B); ... The break points expected to be present in the chimeric chromosomes were analyzed using a PCR-based approach. Of the seven ...
BCR is well known because it becomes pasted onto Chromosome 9 in the classic leukemia mutation, the Philadelphia Chromosome. ... When Chromosome 9 and 22 switch at this place, BCR becomes fused to the gene ABL, making cells divide uncontrollably. The name ... Day 347 (Ypter-Yp11.2): the Y chromosome, Nettie Stevens, and SRY * Day 346 (19q13.33-19q13.43): the most genes of any day, ... Day 356 (22q11.1-22q11.23): the Philadelphia chromosome breakpoint. http://philadelphiaift.org/. Day 356 has 123 protein-coding ...
Genes Chromosomes Cancer. 2004 Oct;41(2):178-82. Research Support, Non-U.S. Govt ... Genes Chromosomes Cancer. 2004 Oct;41(2):178-82.. Level of MYC overexpression in pediatric Burkitts lymphoma is strongly ... In contrast, there was no obvious correlation between breakpoint locations within the IgH locus and the amount of MYC mRNA. ... To investigate the influence of breakpoint locations within the MYC gene on MYC transcript levels, we determined both the ...
Philadelphia chromosome‐negative chronic myelogenous leukemia with rearrangement of the breakpoint cluster region. Long term ... Philadelphia chromosome‐negative chronic myelogenous leukemia with rearrangement of the breakpoint cluster region. Long term ... Philadelphia chromosome‐negative chronic myelogenous leukemia with rearrangement of the breakpoint cluster region. Long term ... T1 - Philadelphia chromosome‐negative chronic myelogenous leukemia with rearrangement of the breakpoint cluster region. Long ...
Chromosome 7 translocation breakpoints in male carriers: clinical features and implications for genetic counseling.. Wang RX1, ... However, the breakpoint at 7p15 was associated with both. Chromosome 7 translocation carriers with pregestational or ... However, clinical characteristics resulting from chromosome 7 translocation breakpoints have not been studied. Here, we report ... A translocation breakpoint can occur within an important gene, interrupting its structure and leading to male infertility. ...
Association study of the commonly recognized breakpoints in chromosome 15q11-q13 in Japanese autistic patients.. Kato C1, ... This study provides no positive evidence of the association between the common breakpoints of chromosome 15q11-q13 and autism ... Here, we investigated the association between the common breakpoints of chromosome 15q11-q13 and autism in a Japanese ... Chromosome 15q11-q13 has been proposed to harbor a gene for autism susceptibility because deletions of the region lead to ...
... infertile male patients present a number of breakpoints throughout chromosome 1. A translocation breakpoint might interrupt the ... Translocation breakpoints of chromosome 1 in male carriers: clinical features and implications for genetic counseling.. Wang RX ... Here, we report the breakpoints on chromosome 1 translocation and the clinical features presented in carriers, to enable ... Breakpoints at 1p13, 1q12, and 1q21 were associated with pre-gestational infertility. These results suggested that breakpoints ...
These data indicate the presence of myeloid- and lymphoid-specific breakpoint cluster regions within chromosome band 13q14 in ... Myeloid- and lymphoid-specific breakpoint cluster regions in chromosome band 13q14 in acute leukemia. 1999, 25 (3):222-9 Genes ... Analysis of balanced rearrangements of chromosome 6 in acute leukemia: clustered breakpoints in q22-q23 and possible ... Myeloid- and lymphoid-specific breakpoint cluster regions in chromosome band 13q14 in acute leukemia.. ...
Variant Philadelphia translocations with different breakpoints in six chronic myeloid leukemia patients / Alti kronik miyeloid ... Table 3. Chromosomes involved in variant Ph translocations in the 6 patients and previously reported breakpoints Chromosomes ... Possible correlations between chromosome breakpoints other than 9 and 22 in these Ph variant tranlocations, and recent updates ... Above all, monitorization of chromosomes and localization of precise breakpoints involved in the complex rearrangements in CML ...
Generation of a Collection of Plants Carrying Recombined Polymorphic Chromosome 1S with Recombination Breakpoints in Proximity ... Chromosome Walking.. A contig of bacterial artificial chromosome (BAC) genomic DNA clones derived from the Texas A & M ... 1992) Chromosome Walking in Arabidopsis thaliana Using Yeast Artificial Chromosomes. (World Scientific, Teaneck, NJ).. ... A) Genetic map of a region of chromosome 1 between the genes ETR1 and APETELA 1 (AP1). Genetic and molecular markers are listed ...
White boxes, predicted genes; black box, Chd1; black arrows, chromosome deficiencies; dashed lines, deficiency breakpoints; ... The distal breakpoint of Df(2L)Exel7014 is located immediately downstream of the Chd1 3′ untranslated region. White boxes, ... When we examined the chromosome structure of 0- to 4-hour-old embryos laid by Chd1-null females, we observed that, during ... C) H3.3-FLAG is incorporated into chromosomes of the male pronucleus in wild-type embryos. Panels show the first metaphase. (D ...
... partial deletion and generates a ring chromosome. Loss of critical genes on each arm of chromosome 18 may contribute to the ... Detailed breakpoints location and deleted genes identification help to estimate the risk of the disease in the future. The data ... Here we describe a detailed diagnosis of a seven-year-old Chinese girl with a ring chromosome 18 mutation by a high-throughput ... To our knowledge, this is the first report of a ring chromosome 18 patient in China analyzed by whole-genome low-coverage ...
QTL on chromosomes 1 and 13 in mouse, two QTL on chromosome 3 in maize, and a single QTL on chromosome 3B in wheat. The ... For chromosomes 1 and 5, the LOD of the respective QTL increased, for chromosome 2 the LOD only slightly changed, and for ... LOD curves for chromosomes carrying the significant QTL: a single QTL on chromosome 1 in Arabidopsis (dotted line: analysis ... 2006). A minimum of one obligatory crossover per chromosome, or chromosome arm, occurs during meiosis as a requirement for ...
Breakpoints are: chromosome 15: 72027045 and 72104113; chromosome 17: 35742679 and 35742683 (NCBI36/hg18). ATG: CDS start. ZF: ... Note one fusion signal, two red signals (chromosome 15) and one green signal (chromosome 17). F. Interphase FISH using Abbott/ ... a 77-kilobase segment from chromosome 15 was inserted en bloc into the second intron of the RARA gene on chromosome 17, ... A. Fosmid selection and position of homology to chromosomes 15 and 17. B. Schematic representation of fosmid homology to the ...
The Philadelphia chromosome is formed by a reciprocal translocation between chromosomes 9 and 22. Potential breakpoints are ...
  • however, when the last chromosome comes into alignment on the metaphase plate, the mitotic checkpoint is quickly satisfied, and the replicated chromosomes are rapidly partitioned to opposite poles of the dividing cell. (biomedsearch.com)
  • The mitotic checkpoint is also curious in the sense that, before metaphase alignment, chromosomes that are not being pulled in opposite directions by the mitotic spindle activate the checkpoint, but during anaphase, these same tensionless chromosomes can no longer activate the checkpoint. (biomedsearch.com)
  • Then, an interphase or metaphase chromosome preparation is produced. (wikipedia.org)
  • Depending on the arrangement of the four chromosomes on the metaphase plate, this normal disjunction of homologos produces one of two equally likely patterns of segregation. (wikipedia.org)
  • Joe Hin Tjio working in Albert Levan's lab was responsible for finding the approach: Using cells in culture Pre-treating cells in a hypotonic solution, which swells them and spreads the chromosomes Arresting mitosis in metaphase by a solution of colchicine Squashing the preparation on the slide forcing the chromosomes into a single plane Cutting up a photomicrograph and arranging the result into an indisputable karyogram. (wikipedia.org)
  • Briefly, whole chromosome paints for each chromosome labeled with different combinations of five fluorescent dyes were hybridized to cell line metaphases, and the fluorescence at each point in the image was analyzed with a spectrometer (Spectracube, Applied Spectral Imaging, Migdal HaEmek, Israel) to determine which chromosome was present. (pnas.org)
  • Fluorescence microscopy can be used to find out where the fluorescent probe is bound to the chromosomes. (wikipedia.org)
  • Using a fluorescence microscope and computer software, the differentially coloured fluorescent signals are then compared along the length of each chromosome for identification of chromosomal differences between the two sources. (wikipedia.org)