Chromosomes: In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Chromosome 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.X Chromosome: The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Sex Chromosomes: The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)Chromosomes, Human, Pair 1: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.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, 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 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 11: A specific pair of GROUP C 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 6: A specific pair GROUP C CHROMSOMES of the human chromosome classification.Chromosome Deletion: Actual loss of portion of a chromosome.Chromosomes, Human, Pair 9: A specific pair of GROUP C CHROMSOMES of the human chromosome classification.Chromosomes, Human, Pair 21: A specific pair of GROUP G 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, 6-12 and X: The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.Chromosomes, Human, Pair 2: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Human, Pair 16: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosome Pairing: The alignment of CHROMOSOMES at homologous sequences.Chromosomes, Human, Pair 13: A specific pair of GROUP D 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 4: A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 10: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 19: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 8: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.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.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, 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, 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 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, 1-3: The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.Chromosomes, Human, Pair 15: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Karyotyping: Mapping of the KARYOTYPE of a cell.Chromosomes, Human, Pair 14: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 18: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 20: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.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, 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.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.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Chromosomes, Human, 13-15: The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.Chromosome Breakage: A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.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.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.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Ring Chromosomes: Aberrant chromosomes with no ends, i.e., circular.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.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.Chromosome Positioning: The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.Chromosomes, Human, 4-5: The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.X Chromosome Inactivation: A dosage compensation process occurring at an early embryonic stage in mammalian development whereby, at random, one X CHROMOSOME of the pair is repressed in the somatic cells of females.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.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.Chromosomes, Insect: Structures within the CELL NUCLEUS of insect cells containing DNA.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.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.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.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).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.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.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.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.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).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."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.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.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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.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).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.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.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)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.Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.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.Kinetochores: Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.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.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.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.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.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.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.Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.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.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.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).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.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Chromosomal Instability: An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Chromosome Fragility: Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.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 Duplication: An aberration in which an extra chromosome or a chromosomal segment is made.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.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.Diploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.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.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.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)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)Genetic Variation: Genotypic differences observed among individuals in a population.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.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.DNA Replication: The process by which a DNA molecule is duplicated.Polyploidy: The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.Abnormalities, MultipleDNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.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.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.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.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.Polytene Chromosomes: Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.Escherichia coli: A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.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.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.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.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).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.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.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.Karyotype: The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)Cosmids: Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.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.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.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.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.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.Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.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.Cell Line: Established cell cultures that have the potential to propagate indefinitely.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.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.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.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.)Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.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.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.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.Monosomy: The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.Genes, X-Linked: Genes that are located on the X CHROMOSOME.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).Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.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.Cell Nucleus: Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Genes, Bacterial: The functional hereditary units of BACTERIA.Azure Stains: PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.Contig Mapping: Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.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.Homozygote: An individual in which both alleles at a given locus are identical.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).Chromosome Breakpoints: The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.Gene Duplication: Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.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.Chromosomes, Archaeal: Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.Haploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.Ploidies: The degree of replication of the chromosome set in the karyotype.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.Hybridization, Genetic: The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.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.Genome, Plant: The genetic complement of a plant (PLANTS) as represented in its DNA.Base Pairing: Pairing of purine and pyrimidine bases by HYDROGEN BONDING in double-stranded DNA or RNA.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.DNA, Fungal: Deoxyribonucleic acid that makes up the genetic material of fungi.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)Sex Chromatin: In the interphase nucleus, a condensed mass of chromatin representing an inactivated X chromosome. Each X CHROMOSOME, in excess of one, forms sex chromatin (Barr body) in the mammalian nucleus. (from King & Stansfield, A Dictionary of Genetics, 4th ed)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.DNA, Neoplasm: DNA present in neoplastic tissue.DNA, Complementary: Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.Histones: Small chromosomal proteins (approx 12-20 kD) possessing an open, unfolded structure and attached to the DNA in cell nuclei by ionic linkages. Classification into the various types (designated histone I, histone II, etc.) is based on the relative amounts of arginine and lysine in each.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)Microtubules: Slender, cylindrical filaments found in the cytoskeleton of plant and animal cells. They are composed of the protein TUBULIN and are influenced by TUBULIN MODULATORS.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Syndrome: A characteristic symptom complex.Pachytene Stage: The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.DNA, Plant: Deoxyribonucleic acid that makes up the genetic material of plants.Sister Chromatid Exchange: An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME.Bacterial Proteins: Proteins found in any species of bacterium.Chromosomes, Artificial: DNA constructs that are composed of, at least, elements such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, that are required for successful replication, propagation to and maintenance in progeny cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.RNA, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.Gene Library: A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences.Nucleic Acid Conformation: The spatial arrangement of the atoms of a nucleic acid or polynucleotide that results in its characteristic 3-dimensional shape.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.Quantitative Trait, Heritable: A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)Triticum: A plant genus of the family POACEAE that is the source of EDIBLE GRAIN. A hybrid with rye (SECALE CEREALE) is called TRITICALE. The seed is ground into FLOUR and used to make BREAD, and is the source of WHEAT GERM AGGLUTININS.Genes, Y-Linked: Genes that are located on the Y CHROMOSOME.Biological Evolution: The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.Euchromatin: Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.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).Sex Determination Processes: The mechanisms by which the SEX of an individual's GONADS are fixed.

Conserved mechanism of PLAG1 activation in salivary gland tumors with and without chromosome 8q12 abnormalities: identification of SII as a new fusion partner gene. (1/1201)

We have previously shown (K. Kas et al, Nat. Genet., 15: 170-174, 1997) that the developmentally regulated zinc finger gene pleomorphic adenoma gene 1 (PLAG1) is the target gene in 8q12 in pleomorphic adenomas of the salivary glands with t(3;8)(p21;q12) translocations. The t(3;8) results in promoter swapping between PLAG1 and the constitutively expressed gene for beta-catenin (CTNNB1), leading to activation of PLAG1 expression and reduced expression of CTNNB1. Here we have studied the expression of PLAG1 by Northern blot analysis in 47 primary benign and malignant human tumors with or without cytogenetic abnormalities of 8q12. Overexpression of PLAG1 was found in 23 tumors (49%). Thirteen of 17 pleomorphic adenomas with a normal karyotype and 5 of 10 with 12q13-15 abnormalities overexpressed PLAG1, which demonstrates that PLAG1 activation is a frequent event in adenomas irrespective of karyotype. In contrast, PLAG1 was overexpressed in only 2 of 11 malignant salivary gland tumors analyzed, which suggests that, at least in salivary gland tumors, PLAG1 activation preferentially occurs in benign tumors. PLAG1 over-expression was also found in three of nine mesenchymal tumors, i.e., in two uterine leiomyomas and one leiomyosarcoma. RNase protection, rapid amplification of 5'-cDNA ends (5'-RACE), and reverse transcription-PCR analyses of five adenomas with a normal karyotype revealed fusion transcripts in three tumors. Nucleotide sequence analysis of these showed that they contained fusions between PLAG1 and CTNNB1 (one case) or PLAG1 and a novel fusion partner gene, i.e., the gene encoding the transcription elongation factor SII (two cases). The fusions occurred in the 5' noncoding region of PLAG1, leading to exchange of regulatory control elements and, as a consequence, activation of PLAG1 gene expression. Because all of the cases had grossly normal karyotypes, the rearrangements must result from cryptic rearrangements. The results suggest that in addition to chromosomal translocations and cryptic rearrangements, PLAG1 may also be activated by mutations or indirect mechanisms. Our findings establish a conserved mechanism of PLAG1 activation in salivary gland tumors with and without 8q12 aberrations, which indicates that such activation is a frequent event in these tumors.  (+info)

Identification of a human HECT family protein with homology to the Drosophila tumor suppressor gene hyperplastic discs. (2/1201)

Use of the differential display technique to isolate progestin-regulated genes in T-47D human breast cancer cells led to identification of a novel gene, EDD. The cDNA sequence contains a 2799 amino acid open reading frame sharing 40% identity with the predicted 2894 amino acid product of the Drosophila melanogaster tumor suppressor gene hyperplastic discs, while the carboxy-terminal 889 amino acids show 96% identity to a rat 100 kDa HECT domain protein. EDD mRNA was progestin-induced in T-47D cells and was highly abundant in testes and expressed at moderately high levels in other tissues, suggesting a broad role for EDD. Anti-EDD antibodies immunoprecipitated an approximately 300 kDa protein from T-47D cell lysates. HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for ubiquitin-mediated proteolysis. EDD is likely to function as an E3 as in vitro translated protein bound ubiquitin reversibly through a conserved HECT domain cysteine residue. EDD was localized by FISH to chromosome 8q22, a locus disrupted in a variety of cancers. Given the homology between EDD and the hyperplastic discs protein, which is required for control of imaginal disc growth in Drosophila, EDD potentially has a role in regulation of cell proliferation or differentiation.  (+info)

Angiopoietins 3 and 4: diverging gene counterparts in mice and humans. (3/1201)

The angiopoietins have recently joined the members of the vascular endothelial growth factor family as the only known growth factors largely specific for vascular endothelium. The angiopoietins include a naturally occurring agonist, angiopoietin-1, as well as a naturally occurring antagonist, angiopoietin-2, both of which act by means of the Tie2 receptor. We now report our attempts to use homology-based cloning approaches to identify new members of the angiopoietin family. These efforts have led to the identification of two new angiopoietins, angiopoietin-3 in mouse and angiopoietin-4 in human; we have also identified several more distantly related sequences that do not seem to be true angiopoietins, in that they do not bind to the Tie receptors. Although angiopoietin-3 and angiopoietin-4 are strikingly more structurally diverged from each other than are the mouse and human versions of angiopoietin-1 and angiopoietin-2, they appear to represent the mouse and human counterparts of the same gene locus, as revealed in our chromosomal localization studies of all of the angiopoietins in mouse and human. The structural divergence of angiopoietin-3 and angiopoietin-4 appears to underlie diverging functions of these counterparts. Angiopoietin-3 and angiopoietin-4 have very different distributions in their respective species, and angiopoietin-3 appears to act as an antagonist, whereas angiopoietin-4 appears to function as an agonist.  (+info)

An ankyrin-like protein with transmembrane domains is specifically lost after oncogenic transformation of human fibroblasts. (4/1201)

We have identified a novel transformation-sensitive mRNA, which is present in cultured fibroblasts but is lacking in SV40 transformed cells as well as in many mesenchymal tumor cell lines. The corresponding gene is located on human chromosome 8 in band 8q13. The open reading frame of the mRNA encodes a protein of 1119 amino acids forming two distinct domains. The N-terminal domain consists of 18 repeats that are related to the cytoskeletal protein ankyrin. The C-terminal domain contains six putative transmembrane segments that resemble many ion channels. This overall structure is reminiscent of TRP-like proteins that function as store-operated calcium channels. The novel protein with an Mr of 130 kDa is expressed at a very low level in human fibroblasts and at a moderate level in liposarcoma cells. Overexpression in eukaryotic cells appears to interfere with normal growth, suggesting that it might play a direct or indirect role in signal transduction and growth control.  (+info)

Human NDUFB9 gene: genomic organization and a possible candidate gene associated with deafness disorder mapped to chromosome 8q13. (5/1201)

Human NADH dehydrogenase (ubiquinone) 1beta-subcomplex, 9 (NDUFB9) is a nuclear encoded mitochondrial protein with the respiratory electron transport chain. It has been physically mapped to a 1-Mb deletion at chromosome 8q13 which also contains the gene for branchio-oto-renal (BOR) syndrome. BOR syndrome is characterized by branchial and renal abnormalities with hearing impairment. Since several hereditary deafness disorders have been associated with mitochondrial mutations, NDUFB9 was considered a candidate gene for BOR syndrome. Recently, EYA1 gene has been identified in the region which underlies the BOR syndrome but majority of BOR families did not show mutations in the EYA1 gene. Here we have determined the genomic structure of the NDUFB9 gene, including the nucleotide sequence, organization and the boundaries of the four coding exons. PCR primers were designed from the adjacent intron sequences that allow amplification of the four exons that encode the complete open reading frame. To identify whether mutations in NDUFB9 are involved in causing the BOR syndrome, we screened 9 BOR families which did not show mutations in the EYA1 gene by heteroduplex analysis; however, no mutations were found.  (+info)

Trisomies 8 and 20 characterize a subgroup of benign fibrous lesions arising in both soft tissue and bone. (6/1201)

Trisomy 8 and trisomy 20 are nonrandom aberrations in desmoid tumors. The presence of these trisomies in related benign fibrous lesions of bone has not been previously addressed. In this study, 22 specimens from 19 patients diagnosed with desmoid tumor, desmoplastic fibroma, periosteal desmoid tumor, osteofibrous dysplasia, or fibrous dysplasia were examined by cytogenetic analysis of short-term cultures and bi-color fluorescence in situ hybridization of cytological touch preparations or paraffin-embedded tissue with centromeric probes for chromosomes 8 and 20. Trisomy 8 and trisomy 20 were detected by molecular cytogenetic methodologies in 15 specimens, including 10 primary bone lesions. Traditional cytogenetic analysis revealed trisomy 8 in two cases of osteofibrous dysplasia. Our findings demonstrate that trisomy 8 and trisomy 20 are also nonrandom aberrations in histologically similar, but clinically distinct, benign fibrous lesions of bone.  (+info)

Differential expression assay of chromosome arm 8p genes identifies Frizzled-related (FRP1/FRZB) and Fibroblast Growth Factor Receptor 1 (FGFR1) as candidate breast cancer genes. (7/1201)

Deletions and amplifications are frequent alterations of the short arm of chromosome 8 associated with various types of cancers, including breast cancers. This indicates the likely presence of tumor suppressor genes and oncogenes. In the present study, we have used the expressed sequence tag (EST) map of 8p11-21 to assemble a set of available cDNAs representing genes from this region. DNA arrays were prepared for expression analysis and search for genes potentially involved in breast cancer. Underexpresion in tumoral breast cells (versus normal breast) was observed for 15 transcripts. Among these, the Frizzled-related gene FRP1/FRZB, was turned off in 78% of breast carcinomas, suggesting that the lack of its product may be associated with malignant transformation. Overexpression in tumoral breast cells was observed for 13 genes. The FGFR1 gene, that encodes a tyrosine kinase receptor for members of the fibroblast growth factor family, was identified as a good candidate for one amplification unit. Taken together, our results demonstrate that such a strategy can rapidly identify genes with an altered pattern of expression and provide candidate genes for malignancies.  (+info)

Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. (8/1201)

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

*Wellcome Sanger Institute

"International Human Genome Sequencing Consortium Announces "Working Draft" of Human Genome". National Human Genome Research ... Human Genome Sequencing Consortium (2004). "Finishing the euchromatic sequence of the human genome". Nature. 431 (7011): 931- ... The Institute's research in human genetics focuses on the characterisation of human genetic variation in health and disease. ... Explores human gene function by studying the impact of genome variation on cell biology. Large-scale systematic screens are ...

*Chromosome 1 (human)

... which are the non-sex chromosomes. Chromosome 1 spans about 249 million nucleotide base pairs, which are the basic units of ... Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all ... See also: Category:Genes on human chromosome 1. The following is a partial list of genes on human chromosome 1. For complete ... of the total DNA in human cells. It was the last completed chromosome, sequenced two decades after the beginning of the Human ...

*Human chorionic gonadotropin

... encoded by six highly homologous genes that are arranged in tandem and inverted pairs on chromosome 19q13.3 - CGB (1, 2, 3, 5, ... Talwar GP (1997). "Fertility regulating and immunotherapeutic vaccines reaching human trials stage" (PDF). Human Reproduction ... Human chorionic gonadotropin (hCG) is a hormone produced by the placenta after implantation. The presence of hCG is detected in ... Human chorionic gonadotropin interacts with the LHCG receptor of the ovary and promotes the maintenance of the corpus luteum ...

*NUDT11

"An adjacent pair of human NUDT genes on chromosome X are preferentially expressed in testis and encode two new isoforms of ... 2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325-37. doi:10.1038/nature03440. PMC 2665286 . PMID ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... Leslie NR, McLennan AG, Safrany ST (2002). "Cloning and characterisation of hAps1 and hAps2, human diadenosine polyphosphate- ...

*C1orf123

... is a gene located in the human genome on the short arm of chromosome 1 at p32.2, between 53,679,771 base pairs and ... C1orf123 (chromosome 1 open reading frame 23) is a gene in the human genome that encodes the protein of unknown function, ... The loss of the short arm of chromosome 1, the part of chromosome 1 that C1orf123 is located on, cause and parathyroid gland ... For the most part, "C1orf123" is expressed in relatively average amounts in the human body with the exception of CD34+ and CD56 ...

*CCDC94

The human form as 323 amino acid residues, with an isoelectric point of 5.618 and a molecular mass of 37,086 Daltons. There are ... The gene product is a 1,441 base pair mRNA with 8 predicted exons in the human gene. As predicted by Ensemble, there exists one ... The predicted promoter region spans 714 basepairs from 4,246,532 to 4,247,245 on the plus strand of chromosome 19. CCDC94 is ... Human CCDC94 genome location and CCDC94 gene details page in the UCSC Genome Browser.. ...

*Chromosome 2 (human)

... and Denisovans have 24 pairs of chromosomes. Humans have only 23 pairs of chromosomes. Human chromosome 2 is a result of an end ... Chromosome 2 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 2 ... See also: Category:Genes on human chromosome 2. The following is a partial list of genes on human chromosome 2. For complete ... The closest human relative, the chimpanzee, has near-identical DNA sequences to human chromosome 2, but they are found in two ...

*GJB1

The gene that encodes the human GJB1 protein is found on the x chromosome, on the long arm at position q13.1, in interval 8, ... from base pair 71,215,212 to base pair 71,225,215. Approximately four hundred type X Charcot-Marie-Tooth causing mutations have ... In males, due to the hemizygousity of the X-chromosome, the symptoms and issues surrounding X-linked Charcot-Marie-Tooth ... "Human PubMed Reference:". "Mouse PubMed Reference:". Corcos IA, Lafrenière RG, Begy CR, Loch-Caruso R, Willard HF, Glover TW ( ...

*FAM83H

The coding region is made up of 5,604 base pairs and 5 exons. FAM83H is ubiquitously expressed throughout the human body at ... FAM83H is located on the long arm of chromosome 8 (8q24.3), starting at 143723933 and ending at 143738030. The FAM83H gene ... "Genecards". The Gene Human Database. "Aceview". NCBI. "Genecards". The Gene Human Database. "BLAST". NCBI. Hedges, SB. " ... Orthologs of the human protein FAM83H are listed above in descending order or date of divergence and then ascending order of ...

*FAM167A

"SymAtlas Human tissue expression". BioGPS. "Tissue expression in house mouse". Sun F, Xu J, Wu Z, Li P, Chen H, Su J, You X, Li ... On chromosome 8, FAM167A is positioned between c8orf12 (anti-sense) and BLK (anti-sense). The exact locus of FAM167A is 8p23-22 ... and spans from 11,278,972 to 11,332,224, a total of 53,253 base pairs. The promoter spans from 11324145 to 11324476 on the ... There are no human isoforms found. Family with Sequence Similarity 167, Member A is also known as FAM167A, c8orf13, or D8S265. ...

*Chromosome 8 (human)

See also: Category:Genes on human chromosome 8. The following is a partial list of genes on human chromosome 8. For complete ... The following are some of the gene count estimates of human chromosome 8. Because researchers use different approaches to ... 2006). "DNA sequence and analysis of human chromosome 8". Nature. 439 (7074): 331-5. Bibcode:2006Natur.439..331N. doi:10.1038/ ... People normally have two copies of this chromosome. Chromosome 8 spans about 145 million base pairs (the building material of ...

*KIAA0090

... is located on chromosome one in the p arm at location 1p36.132. It covers 36.74 kb, from base pairs 19451486 to ... KIAA0090 is a human gene coding for a protein of unknown function. KIAA0090 has two aliases OTTHUMP00000002581 and RP1-43E13.1 ... Gupta R, Brunak S (2002). "Prediction of glycosylation across the human proteome and the correlation to protein function". Pac ... The gene has 8 probable promoters. The gene is flanked by UBR4 on its right and MRTO4 on its left. This Information is ...

*Opisthorchis viverrini

... six pairs of) chromosomes, i.e. 2n = 12. The draft genome and transcriptomes was published in 2014. Its genome is 634.5 Mb in ... The first human specimen was described by a British parasitologist Robert Thomson Leiper in 1915, but without knowing the exact ... The first human case was discovered by Robert Thomson Leiper in 1915. O. viverrini (together with Clonorchis sinensis and ... Kerr initially misidentified the parasite as O. felineus, an already known human parasite, because of their close resemblance. ...

*TMEM8A

The human gene TMEM8A is found on chromosome 16 at the band 16p13.3. The span of this gene on chromosome 16 spans from base ... pair 420,773 to 437,113 making this gene 16,340 base pairs in length. This gene is found on the minus strand of the chromosome ... December 2004). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. doi:10.1038/ ... structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16". Hum. Mol. Genet. 10 (4 ...

*Arachidonate 5-lipoxygenase

The ALOX5 gene, which occupies 71.9 kilobase pairs (kb) on chromosome 10 (all other human lipoxygenases are clustered together ... Aberrant expression of LOX5 is seen in various types of human cancer tumors in vivo as well as in various types of human cancer ... Studies with cultured human cells have found that there are a large number of ALOX5 mRNA splice variants due to Alternative ... Human ALOX5 is a soluble, monomeric protein consisting of 673 amino acids with a molecular weight of ~78 kDa. Structurally, ...

*C8orf46

Chromosome 8 open reading frame 46 (C8orf46) is a protein coding gene, which in humans is located along the forward strand of ... No human paralogs for C8orf46 have been identified C8orf46 is found in all classes of vertebrates, including mammals, birds, ... The mature mRNA is approximately 3,741 base pairs in length and contains six exons. The protein encoded by C8orf46 is 207 amino ... "C8orf46 chromosome 8 open reading frame 46 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2016-04-25. " ...

*TMEM98

This gene is found on the plus strand of chromosome 17 at locus 17q11.2. It spans from base pairs 31,254,928 to 31,272,124. ... "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome ... This missing region corresponds to 85 base pairs near the end of the 5' UTR. Variant one is more abundant than Variant two with ... While not functional, there are two pseudogenes found on chromosome 6 and 14 in Homo sapiens. Transmembrane protein 98 is ...

*ARID5B

The gene is located on the long arm of chromosome 10 (10q21.2) on the Watson (plus) strand. It spans 195,261 base pairs in ... Human ARID5B genome location and ARID5B gene details page in the UCSC Genome Browser. Yuan YC, Whitson RH, Liu Q, Itakura K, ... "Human PubMed Reference:". "Mouse PubMed Reference:". Lahoud MH, Ristevski S, Venter DJ, Jermiin LS, Bertoncello I, Zavarsek S, ... 11 (8): 1327-34. doi:10.1101/gr.168801. PMID 11483573. Zhu L, Hu J, Lin D, Whitson R, Itakura K, Chen Y (Aug 2001). "Dynamics ...

*Epigenetics of neurodegenerative diseases

SMN1 is located in a telomeric region of human chromosome 5 and also contains SMN2 in a centromeric region. SMN1 and SMN2 are ... "Epigenetic differences in cortical neurons from a pair of monozygotic twins discordant for Alzheimer's disease." PLoS One 4.8 ( ... some experiments have been performed on human cells as well as in human drug trials (see table below). There are inherent risks ... Human trials with all of the below HDAC inhibitors are extremely variable and often impacted by the patient's exact SMA subtype ...

*TMEM143

Located on the negative strand of human DNA, TMEM143 spans 31,882 base pairs on human chromosome 19 (19q13.33), neighbored by ... human)]". NCBI. "Tmem143 (human)". NCBI. "TMEM143 Gene". GeneCards. "TMEM143 - Normal human tissue expression profiling". NCBI ... There are no known paralogs for the human TMEM143 sequence. Possible human expression of TMEM143 protein occurs in Jurkat cells ... Chromosome 14 open reading frame 28 (C14orf28), Chromosome 14 open reading frame 28 (TRIN71), and Cytoplasmic polyadenylation ...

*Vasopressin receptor 1A

Human AVPR1A is situated on chromosome 12q14-15, and the promoter region does not have repeat sequences homologous to those ... A 2015 study found a correlation between AVPR1A expression and predisposition to extra-pair mating in women but not in men. The ... human AVPR2, rat Avpr2, and human oxytocin receptor (OXTR), respectively. AVPR1A is a G-protein coupled receptor (GPCR) with 7 ... Online". Human Mutation. 28 (11): 1150. doi:10.1002/humu.9510. PMID 17939166. Geller B, Tillman R, Badner JA, Cook EH (Dec 2005 ...

*Aromatic L-amino acid decarboxylase

... localization to human chromosome 7p11 and characterization of hepatic cDNAs". Genomics. 13 (2): 469-71. doi:10.1016/0888-7543( ... a one-base pair deletion at -601 and a four-base pair deletion at 722-725 in exon 1 in relation to bipolar disorder and autism ... "AADC". Human Metabolome database. Retrieved 17 February 2015. Broadley KJ (March 2010). "The vascular effects of trace amines ... "Patient registry". Scherer LJ, McPherson JD, Wasmuth JJ, Marsh JL (Jun 1992). "Human dopa decarboxylase: ...

*FAM49A

... is located on human chromosome 2, at 2p24.3. It has 1512 base pairs in the reference sequence mRNA transcript. The ... 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40-5. doi:10.1038/ ...

*Keratin 18

Waseem A, Gough AC, Spurr NK, Lane EB (1990). "Localization of the gene for human simple epithelial keratin 18 to chromosome 12 ... chromosomal location emphasizes difference from other keratin pairs". New Biol. 2 (5): 464-78. PMID 1705144. Romano V, Hatzfeld ... 1990). "Localisation of a cDNA clone for human cytokeratin 18 to chromosome 17p11-p12 by in situ hybridisation". Hum. Genet. 85 ... 1997). "Mutation of human keratin 18 in association with cryptogenic cirrhosis". J. Clin. Invest. 99 (1): 19-23. doi:10.1172/ ...

*1p36 deletion syndrome

Chromosome 1 is the largest human chromosome and represents about 8 percent of the total DNA in human cells. The "p" stands for ... 40 percent of all breakpoints occur 3 to 5 million base pairs from the telomere. The size of the deletion ranges from ... This means a portion of one chromosome is transferred to another chromosome, so the parent has the "36" portion of chromosome 1 ... This suggests that the most genetically potent area of the 1P36 chromosome occurs at the terminal end of the chromosome. Many ...

*TENM3

Odz1 to Mouse Chromosome 11; and ODZ3 to Human Chromosome Xq25". Genomics. 58 (1): 102-3. doi:10.1006/geno.1999.5798. PMID ... Levine A, Bashan-Ahrend A, Budai-Hadrian O, Gartenberg D, Menasherow S, Wides R (May 1994). "odd Oz: A novel Drosophila pair ... Odz1to Mouse Chromosome 11; and ODZ3 to Human Chromosome Xq25". Genomics. 58 (1): 102-103. doi:10.1006/geno.1999.5798. PMID ... Ben-Zur, T.; Feige, E.; Motro, B.; Wides, R. (2000). "The Mammalian Odz Gene Family: Homologs of a Drosophila Pair-Rule Gene ...
There are a wide assortment of worms and other parasites that are a danger to your pets health. Find out the symptoms and treatments for the 10 most
Fez1山羊多克隆抗体(ab53562)可与人样本反应并经WB实验严格验证,被1篇文献引用。中国75%以上现货,所有产品均提供质保服务,可通过电话、电邮或微信获得本地专属技术支持。
Hereditary multiple exostosis (HME) / Hereditäre Multiple Exostose, Multiple exostosis disease, Multiple cartilagenous exostoses, Multiple osteochondroma, Multiple cartilagenous exostosis, Diaphyseal aclasis, Endochondromatosis
: Hereditary multiple exostoses (HME) is a rare genetic disorder, which can be associated with severe complications that may significantly affect the health-related quality of life (HRQL). Our primary objective was to describe the baseline HRQL in HM
by Barbara Stranger, Qiyuan Li, Ji-Heui Seo, Aaron McKenna, Itsik Peer, Thomas LaFramboise, Myles Brown, Svitlana Tyekucheva, Matthew L. Freedman Germline determinants of gene expression in tumors are infrequently studied due to the complexity of transcript regulation caused by somatically acquired alterations. We performed expression quantitative trait locus (eQTL)-based analyses using the multi-level information provided in The Cancer Genome Atlas (TCGA). Of the factors we measured, cis-acting eQTLs accounted for 1.2% of the total variation of tumor gene expression, while somatic copy-number alteration and CpG methylation accounted for 7.3% and 3.3%, respectively. eQTL analyses of 15 previously reported breast cancer risk loci resulted in the discovery of three variants that are significantly associated with transcript levels (false discovery rate [FDR] < 0.1). Our trans-based analysis identified an additional three risk loci to act through ESR1, MYC, and KLF4. These findings provide a more ...
Figure 1 -- Multiple bony thoracic sessile & pedunculated osteochondromas. Note the abnormal dysplastic bones. The underlying inferior aspect of the posterior 6th rib ...
kabuki syndrome - I am from south Africa and i have a son with kabuki syndrome. I want to know if there is other moms with kids with this...
TY - JOUR. T1 - Prognostic value of AML 1/ETO fusion transcripts in patients with acute myelogenous leukemia.. AU - Cho, Eun Kyung. AU - Bang, Soo Mee. AU - Ahn, Jeong Yeal. AU - Yoo, Seung Min. AU - Park, Pil Whan. AU - Seo, Yieh Hea. AU - Shin, Dong Bok. AU - Lee, Jae Hoon. PY - 2003/1/1. Y1 - 2003/1/1. N2 - BACKGROUND: The t (8;21) (q22;q22), which produces the fusion gene AML1/ETO, is associated with relatively good prognosis and, in particular, with a good response to cytosine arabinoside. Analysis of t (8;21) positive leukemic blasts has shown characteristic morphological and immunological features. We performed this study to investigate the incidence of AML1/ETO rearrangement in adult acute myelogenous leukemia (AML), especially in M2 subtype, to make a comparison of clinical, morphological and immunophenotypic characteristics between AML1/ETO rearrangement positive and negative group in patients with AML and to analyze the correlation with other biological parameters. METHODS: From May ...
TY - JOUR. T1 - Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. AU - Sobreira, Nara. AU - Brucato, Martha. AU - Zhang, Li. AU - Ladd-Acosta, Christine Marie. AU - Ongaco, Chrissie. AU - Romm, Jane. AU - Doheny, Kimberly. AU - Mingroni-Netto, Regina C.. AU - Bertola, Debora. AU - Kim, Chong A.. AU - Perez, Ana Ba. AU - Melaragno, Maria I.. AU - Valle, David. AU - Meloni, Vera A.. AU - Bjornsson, Hans Tomas. PY - 2017/12/1. Y1 - 2017/12/1. N2 - Kabuki syndrome is a monogenic disorder caused by loss of function variants in either of two genes encoding histone-modifying enzymes. We performed targeted sequencing in a cohort of 27 probands with a clinical diagnosis of Kabuki syndrome. Of these, 12 had causative variants in the two known Kabuki syndrome genes. In 2, we identified presumptive loss of function de novo variants in KMT2A (missense and splice site variants), a gene that encodes another histone modifying enzyme previously exclusively associated with ...
Build: Sat Feb 17 08:59:16 EST 2018 (commit: 16064c5). National Center for Advancing Translational Sciences (NCATS), 6701 Democracy Boulevard, Bethesda MD 20892-4874 • 301-435-0888. ...
Tspyl2 - mouse gene knockout kit via CRISPR, 1 kit. |dl||dt|Kit Component:|/dt||dd|- |strong|KN318369G1|/strong|, Tspyl2 gRNA vector 1 in |a href=http://www.origene.com/CRISPR-CAS9/Detail.
Bethesda, Md., Sun., Aug. 15, 2010 - Using a new, rapid and less expensive DNA sequencing strategy, scientists have discovered genetic alterations that account for most cases of Kabuki syndrome, a rare disorder that causes multiple birth defects and mental retardation. Instead of sequencing the entire human genome, the new approach sequences just the exome, the 1-2 percent of the human genome that contains protein-coding genes.. Kabuki syndrome, which has an estimated incidence of 1 in 32,000 births, was originally described by Japanese scientists in 1981. Patients with the disorder often have distinct facial features that resemble the make-up worn by actors of Kabuki, a Japanese theatrical form.. The work, published in todays advanced online edition of Nature Genetics, was carried out by scientists at the University of Washington in Seattle as part of a larger effort to use second generation DNA sequencing technologies in new ways to identify genes for rare disorders. The project is funded ...
Objective This study describes 5 novel variants of 7 KMT2D/KDM6A gene and summarizes the clinical manifestations and the mutational spectrum of 47 Chinese Kabuki syndrome (KS) patients.
Zeng, C., Guo, X., Long, J., Kuchenbaecker, K.B., Droit, A., Michailidou, K., Ghoussaini, M., Kar, S., Freeman, A., Hopper, J.L., Milne, R.L., Bolla, M.K., Wang, Q., Dennis, J., Agata, S., Ahmed, S., Aittomaki, K., Andrulis, I.L., Anton-Culver, H., Antonenkova, N.N., Arason, A., Arndt, V., Arun, B.K., Arver, B., Bacot, F., Barrowdale, D., Baynes, C., Beeghly-Fadiel, A., Benitez, J., Bermisheva, M., Blomqvist, C., Blot, W.J., Bogdanova, N.V., Bojesen, S.E., Bonanni, B., Borresen-Dale, A.-L., Brand, J.S., Brauch, H., Brennan, P., Brenner, H., Broeks, A., Brüning, T., Burwinkel, B., Buys, S.S., Cai, Q., Caldes, T., Campbell, I., Carpenter, J., Chang-Claude, J., Choi, J.Y., Claes, K.B.M., Clarke, C., Cox, A., Cross, S.S., Czene, K., Daly, M.B., de la Hoya, M., De Leeneer, K., Devilee, P., Diez, O., Domchek, S.M., Doody, M.M., Dorfling, C.M., Dörk, T., Dos Santos Silva, I., Dumont, M., Dwek, M., Dworniczak, B., Egan, K.M., Eilber, U., Einbeigi, Z., Ejlertsen, B., Ellis, S., Frost, D., Lalloo, F., ...
Loss of RUNX1/ETO Triggers C/EBPα-Driven Reorganization of the Leukemic Transcriptional Network(A) RUNX1/ETO and CEBPA mRNA expression levels in Kasumi-1 cells
购买PINX1山羊多克隆抗体(ab2344),PINX1抗体经WB验证,可与人样本反应。1篇文献引用,产品出库一年都在质保范围内。中国现货速达。

A Genome-Wide Association Study Identifies a Locus on Chromosome 14q21 as a Predictor of Leukocyte Telomere Length and as a...A Genome-Wide Association Study Identifies a Locus on Chromosome 14q21 as a Predictor of Leukocyte Telomere Length and as a...

Heterogeneity in telomere length of human chromosomes. Hum Mol Genet 1996; 5: 685-91. ... Mapping genetic loci that determine leukocyte telomere length in a large sample of unselected female sibling pairs. Am J Hum ... As caps at the ends of chromosomes, telomeres play a critical role in protecting chromosomes from degradation, end-to-end ... Telomere deficiencies on chromosomes 9p, 15p, 15q and Xp: potential biomarkers for breast cancer risk. Hum Mol Genet 2011; 20: ...
more infohttps://cancerpreventionresearch.aacrjournals.org/content/4/4/514?ijkey=e9ae6535d062c993072e1a78e70535f794b3034a&keytype2=tf_ipsecsha

The copy number analysis of chromosome 8.(A) Ideogram o | Open-iThe copy number analysis of chromosome 8.(A) Ideogram o | Open-i

Ideogram of chromosome 8. (B) Results of SNP-array integrated with CNV probes. Blue spots, B allele freq; Red line, ... Chromosome Deletion. *Chromosomes, Human, Pair 8. *Comparative Genomic Hybridization. *Echocardiography. *Female. *Genetic ... Health and Human Services • 8600 Rockville Pike,Bethesda,MD 20894 Privacy • Accessibility • Freedom of Information Act • ... Health and Human Services • 8600 Rockville Pike,Bethesda,MD 20894 Privacy • Accessibility • Freedom of Information Act • ...
more infohttps://openi.nlm.nih.gov/detailedresult.php?img=PMC3757027_pone.0072515.g002&req=4

Complete remission induced by G-CSF in a patient with acute myeloid leukemia with t(8;21)(q22;q22). | CureHunterComplete remission induced by G-CSF in a patient with acute myeloid leukemia with t(8;21)(q22;q22). | CureHunter

8;21)(q22;q22). - Felicetto Ferrara, Ettore Mariano Schiavone, Salvatore Palmieri, Giuseppina Mele, Barbara Pocali, Giulia ... Chromosomes, Human, Pair 21. *Chromosomes, Human, Pair 8. *Female. *Flow Cytometry. *Granulocyte Colony-Stimulating Factor ( ... Complete remission induced by G-CSF in a patient with acute myeloid leukemia with t(8;21)(q22;q22).. Abstract. We describe a ... This case adds further evidence for a specific role of G-CSF in the treatment of AML with t(8;21), namely in patients who are ...
more infohttp://www.curehunter.com/public/pubmed12764355.do

The Crohns disease associated SNP rs6651252 impacts MYC gene expression in human colonic epithelial cells<...The Crohn's disease associated SNP rs6651252 impacts MYC gene expression in human colonic epithelial cells<...

Here, we investigated the CD-associated SNP rs6651252 that maps to a gene desert region on chromosome 8. We demonstrate that ... The Crohns disease associated SNP rs6651252 impacts MYC gene expression in human colonic epithelial cells. PloS one. 2019 Feb; ... Here, we investigated the CD-associated SNP rs6651252 that maps to a gene desert region on chromosome 8. We demonstrate that ... Here, we investigated the CD-associated SNP rs6651252 that maps to a gene desert region on chromosome 8. We demonstrate that ...
more infohttps://pennstate.pure.elsevier.com/en/publications/the-crohns-disease-associated-snp-rs6651252-impacts-myc-gene-expr

Microsatellite instability at chromosome 8p in non-small cell lung cancer is associated with lymph node metastasis and squamous...Microsatellite instability at chromosome 8p in non-small cell lung cancer is associated with lymph node metastasis and squamous...

Chromosomes, Human, Pair 8. MESH. DNA/chemistry. MESH. DNA Repair. MESH. DNA Sequence, Unstable. MESH. ... Genetic alterations at chromosome arm 8p are associated with advanced disease and poor patient outcome in several types of ... Genetic alterations at chromosome arm 8p are associated with advanced disease and poor patient outcome in several types of ... Microsatellite instability at chromosome 8p in non-small cell lung cancer is associated with lymph node metastasis and squamous ...
more infohttps://epub.uni-regensburg.de/15427/

acute basophilic leukemia morphologic abnormality 2005:2010[pubdate] *count=100 - BioMedLib™ search engineacute basophilic leukemia morphologic abnormality 2005:2010[pubdate] *count=100 - BioMedLib™ search engine

MeSH-major] Chromosomes, Human, Pair 7. Chromosomes, Human, Pair 8. Leukemia, Basophilic, Acute / genetics. Leukemia, ... MeSH-major] Chromosomes, Human, Pair 7 / genetics. Leukemia, Basophilic, Acute / genetics. Monosomy / diagnosis. Monosomy / ... Moser AM, Manor E, Narkis G, Kapelushnik J: Imatinib resistant chronic myelogenous leukemia, BCR-ABL positive by chromosome and ... To our knowledge, the case reported here is the first to have basophilic leukemia with monosomy 7 as the only chromosome ...
more infohttp://www.bmlsearch.com/?kwr=acute+basophilic+leukemia+morphologic+abnormality+2005:2010%5Bpubdate%5D&cxts=100&stmp=b0

b cell prolymphocytic leukemia disorder 2005:2010[pubdate] *count=100 - BioMedLib™ search engineb cell prolymphocytic leukemia disorder 2005:2010[pubdate] *count=100 - BioMedLib™ search engine

MeSH-major] Chromosomes, Human, Pair 14. Chromosomes, Human, Pair 8. Leukemia, B-Cell / genetics. Leukemia, Prolymphocytic / ... Chromosomes, Human, Pair 22 / genetics. Chromosomes, Human, Pair 8 / genetics. Leukemia, Prolymphocytic / genetics. Neoplasms, ... Cites] Genes Chromosomes Cancer. 2001 Jul;31(3):248-54 [11391795.001]. *[Cites] Blood. 1991 Dec 15;78(12):3269-74 [1742486.001] ... Cites] Genes Chromosomes Cancer. 2003 Jan;36(1):57-69 [12461750.001]. *[Cites] Cancer Res. 1998 Apr 15;58(8):1736-40 [ ...
more infohttp://www.bmlsearch.com/?kwr=b+cell+prolymphocytic+leukemia+disorder+2005:2010%5Bpubdate%5D&cxts=100&stmp=b0

Fluorescence in situ hybridization assessment of chromosome 8 copy number in stage I and stage II infiltrating ductal carcinoma...Fluorescence in situ hybridization assessment of chromosome 8 copy number in stage I and stage II infiltrating ductal carcinoma...

Chromosomes, Human, Pair 8 Fluorescence In Situ Hybridization Ductal Carcinoma Neoplasms Aneuploidy ... Afify, A. M., & Mark, H. F. L. (1997). Fluorescence in situ hybridization assessment of chromosome 8 copy number in stage I and ... While this observation needs to be further extended, the data suggest that chromosome 8 copy n umber may be used as a possible ... While this observation needs to be further extended, the data suggest that chromosome 8 copy n umber may be used as a possible ...
more infohttps://ucdavis.pure.elsevier.com/en/publications/fluorescence-in-situ-hybridization-assessment-of-chromosome-8-cop

Seogchan Kang - Research Output
     - Penn StateSeogchan Kang - Research Output - Penn State

Chromosomes, Human, Pair 8 Neurospora crassa Saccharomyces cerevisiae Genes Open Reading Frames ... Internet-accessible DNA sequence database for identifying fusaria from human and animal infections. ODonnell, K., Sutton, D. A ... homology to a sequence of unknown function in Saccharomyces cerevisiae chromosome 8. Chow, C. M., Kang, S., Metzenberg, R. L ... Viji, G., Wu, B., Kang, S., Uddin, W. & Huff, D. R., Jan 1 2001, In : Plant Disease. 85, 8, p. 817-826 10 p.. Research output: ...
more infohttps://pennstate.pure.elsevier.com/en/persons/seogchan-kang/publications/?page=1&ordering=title&descending=false

Daniel J Schaid, PhD - Research Output
     - Mayo ClinicDaniel J Schaid, PhD - Research Output - Mayo Clinic

Chromosomes, Human, Pair 8 Network-directed cis-mediator analysis of normal prostate tissue expression profiles reveals ... the eMERGE Consortium, Sep 5 2019, In : American journal of human genetics. 105, 3, p. 588-605 18 p.. Research output: ... The PRACTICAL Consortium & International Consortium for Prostate Cancer Genetics, Aug 1 2016, In : Human Genetics. 135, 8, p. ... Small Sample Kernel Association Tests for Human Genetic and Microbiome Association Studies. Chen, J., Chen, W., Zhao, N., Wu, M ...
more infohttps://mayoclinic.pure.elsevier.com/en/persons/daniel-j-schaid/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontojournal%2Farticle

Gene expression profile of an adenomyoepithelioma of the breast with a reciprocal translocation involving chromosomes 8 and 16<...Gene expression profile of an adenomyoepithelioma of the breast with a reciprocal translocation involving chromosomes 8 and 16<...

Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 8 Transcriptome Breast Myoepithelioma Basement Membrane ... Gene expression profile of an adenomyoepithelioma of the breast with a reciprocal translocation involving chromosomes 8 and 16. ... Gene expression profile of an adenomyoepithelioma of the breast with a reciprocal translocation involving chromosomes 8 and 16 ... Gene expression profile of an adenomyoepithelioma of the breast with a reciprocal translocation involving chromosomes 8 and 16 ...
more infohttps://researchexperts.utmb.edu/en/publications/gene-expression-profile-of-an-adenomyoepithelioma-of-the-breast-w

Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8<...Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8<...

Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Genomics. ... Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. / Blanton, ... title = "Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8", ... T1 - Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8 ...
more infohttps://miami.pure.elsevier.com/en/publications/linkage-mapping-of-autosomal-dominant-retinitis-pigmentosa-rp1-to

Interphasezytogenetik mit DNA-sonden für chromosom 8 zur detektion zirkulierender tumorzellen beim mammakarzinom<...Interphasezytogenetik mit DNA-sonden für chromosom 8 zur detektion zirkulierender tumorzellen beim mammakarzinom<...

We did not find any cells with chromosome 8 alterations in the patients with benign disease. Surprisingly, even in early breast ... We did not find any cells with chromosome 8 alterations in the patients with benign disease. Surprisingly, even in early breast ... We did not find any cells with chromosome 8 alterations in the patients with benign disease. Surprisingly, even in early breast ... We did not find any cells with chromosome 8 alterations in the patients with benign disease. Surprisingly, even in early breast ...
more infohttps://utsouthwestern.pure.elsevier.com/en/publications/interphase-cytogenetics-with-dna-probes-for-chromosome-8-to-detec

Linkage of pure autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus...Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus...

In: Human Molecular Genetics, Vol. 3, No. 8, 1994, p. 1263-1267.. Research output: Contribution to journal › Article ... In four of these five families tight linkage of the RFSP locus was established to the chromosome 8 markers, D8S260, D8S166, ... In four of these five families tight linkage of the RFSP locus was established to the chromosome 8 markers, D8S260, D8S166, ... In four of these five families tight linkage of the RFSP locus was established to the chromosome 8 markers, D8S260, D8S166, ...
more infohttps://research-repository.uwa.edu.au/en/publications/linkage-of-pure-autosomal-recessive-familial-spastic-paraplegia-t

Aneusomies of chromosomes 8 and Y detected by fluorescence in situ hybridization are prognostic markers for pathological stage...Aneusomies of chromosomes 8 and Y detected by fluorescence in situ hybridization are prognostic markers for pathological stage...

Chromosomes, Human, Pair 7 Prostatic Neoplasms Chromosomes Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 10 ... Gains of chromosome Y and aneusomy of chromosome Y were associated with an increased prostate cancer death rate (P , 0.001 for ... Gains of chromosome Y and aneusomy of chromosome Y were associated with an increased prostate cancer death rate (P , 0.001 for ... Gains of chromosome Y and aneusomy of chromosome Y were associated with an increased prostate cancer death rate (P , 0.001 for ...
more infohttps://mayoclinic.pure.elsevier.com/en/publications/aneusomies-of-chromosomes-8-and-y-detected-by-fluorescence-in-sit

Mauro Helmer Citterich - Research Output
     - Italian Ministry of HealthMauro Helmer Citterich - Research Output - Italian Ministry of Health

Epithelial-restricted gene profile of primary cultures from human prostate tumors: A molecular approach to predict clinical ...
more infohttps://moh-it.pure.elsevier.com/en/persons/mauro-helmer-citterich/publications/

Trisomy 8 in an elderly patient with acute lymphoblastic leukemia as a sole abnormality<...Trisomy 8 in an elderly patient with acute lymphoblastic leukemia as a sole abnormality<...

Chromosomes, Human, Pair 8 Trisomy Precursor Cell Lymphoblastic Leukemia-Lymphoma Bone Marrow ... Park, T. S., Lee, S. T., Song, J., Lee, K. A., Kim, J., Seok, Y. M., ... Choi, J. R. (2008). Trisomy 8 in an elderly patient ... Park, TS, Lee, ST, Song, J, Lee, KA, Kim, J, Seok, YM, Kim, SJ, Lee, JH & Choi, JR 2008, Trisomy 8 in an elderly patient with ... Trisomy 8 in an elderly patient with acute lymphoblastic leukemia as a sole abnormality. In: Cancer genetics and cytogenetics. ...
more infohttps://yonsei.pure.elsevier.com/en/publications/trisomy-8-in-an-elderly-patient-with-acute-lymphoblastic-leukemia

Altered chromatin modifications in AML1/RUNX1 breakpoint regions invol by Marcela Stuardo, Milka Martinez et al."Altered chromatin modifications in AML1/RUNX1 breakpoint regions invol" by Marcela Stuardo, Milka Martinez et al.

Virtually all chromosome translocations in leukemia show no consistent homologous sequences at the breakpoint regions. However ... Strikingly, induction of DNA damage resulted in formation of t(8;21) in HL-60 but not in HeLa cells. Taken together, our ... We analyzed the chromatin organization at intron 5 of the RUNX1 gene where all the sequenced breakpoints involved in t(8;21) ... and often identified as a site for reciprocal rearrangement of chromosomes 8 and 21 in patients with acute myelogenous leukemia ...
more infohttps://escholarship.umassmed.edu/stein/44/

SONIA LARACH  WALTERS - Resultado de la investigación
     - Universidad Andrés BelloSONIA LARACH WALTERS - Resultado de la investigación - Universidad Andrés Bello

Significant evidence for a schizophrenia susceptibility locus in the centromeric region of human chromosome. Shaw, S. H., ... A genome-wide scan for linkage to chromosomal regions in 382 sibling pairs with schizophrenia or schizoaffective disorder. ... Lack of evidence for linkage to chromosomes 13 and 8 for schizophrenia and schizoaffective disorder. Delisi, L. E., Shaw, S., ... Failure to establish linkage on the X chromosome in 301 families with schizophrenia or schizoaffective disorder. DeLisi, L. E ...
more infohttps://researchers.unab.cl/es/persons/sonia-larach-walters-3/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontojournal%2Farticle

Hesham Agrama - Research Output
     - Sultan Qaboos University: OMAN House of ExpertiseHesham Agrama - Research Output - Sultan Qaboos University: OMAN House of Expertise

Chromosomes, Human, Pair 9 12 Citations (Scopus) Construction of genome map for Eucalyptus camaldulensis Dehn. Agrama, H. A., ... Agrama, H. A. & Yan, W. G., Dec 2009, In : Plant Breeding. 128, 6, p. 551-558 8 p.. Research output: Contribution to journal › ... El-Maghraby, M. A., Moussa, M. E., Hana, N. S. & Agrama, H. A., Jan 2005, In : Euphytica. 141, 3, p. 301-308 8 p.. Research ... Agrama, H. A., Dahleen, L., Wentz, M., Jin, Y. & Steffenson, B., Aug 2004, In : Phytopathology. 94, 8, p. 858-861 4 p.. ...
more infohttps://squ.pure.elsevier.com/en/persons/hesham-agrama/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontojournal%2Farticle

Gendoo - Relevant featuresGendoo - Relevant features

Chromosomes, Human, Pair 8 ヒト第8染色体 Gene Expression 遺伝子発現 ... Chromosomes, Human, Pair 20 ヒト第20染色体 Second Messenger Systems セカンドメッセンジャー系 ...
more infohttp://gendoo.dbcls.jp/cgi-bin/gendoo.cgi?geneid=3786&taxonomy=human

Jonathan Flowers - Research Output
     - NYU ScholarsJonathan Flowers - Research Output - NYU Scholars

Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 8 Chromosomes, Human, Pair 10 ... Eanes, W. F., Merritt, T. J. S., Flowers, J., Kumagai, S. & Zhu, C. T., Feb 1 2009, In : Genetics. 181, 2, p. 607-614 8 p.. ... Flowers, J. & Burton, R. S., Aug 1 2006, In : Genetics. 173, 3, p. 1479-1486 8 p.. Research output: Contribution to journal › ... Aug 8 2008, In : Science. 321, 5890, p. 836-838 3 p.. Research output: Contribution to journal › Article ...
more infohttps://nyu-staging.pure.elsevier.com/en/persons/jonathan-flowers/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontojournal%2Farticle

SONIA LARACH  WALTERS - Resultado de la investigación
     - Universidad Andrés BelloSONIA LARACH WALTERS - Resultado de la investigación - Universidad Andrés Bello

Significant evidence for a schizophrenia susceptibility locus in the centromeric region of human chromosome. Shaw, S. H., ... A genome-wide scan for linkage to chromosomal regions in 382 sibling pairs with schizophrenia or schizoaffective disorder. ... Lack of evidence for linkage to chromosomes 13 and 8 for schizophrenia and schizoaffective disorder. Delisi, L. E., Shaw, S., ... Failure to establish linkage on the X chromosome in 301 families with schizophrenia or schizoaffective disorder. DeLisi, L. E ...
more infohttps://researchers.unab.cl/es/persons/sonia-larach-walters-3/publications/
  • Based on linkage data from the CEPH (Paris) reference families and physical mapping information from a somatic cell hybrid panel of chromosome 8 fragments, the most likely order for four of these five loci and the diseases locus is 8pter-LPL-D8S5-D8S87-PLAT-RP1. (elsevier.com)
  • Using chromosome substitution strains (CSS), we found that loci on chromosomes 8, 11, and 18 influence susceptibility to S. aureus sepsis in A/J mice. (elsevier.com)
  • Complete remission induced by G-CSF in a patient with acute myeloid leukemia with t(8;21)(q22;q22). (curehunter.com)
  • We describe a case of acute myeloid leukemia (AML) with t(8;21) in which complete remission (CR) was obtained with G-CSF given at 10 microg/kg in the absence of concomitant cytotoxic chemotherapy . (curehunter.com)
  • We studied the frequency of microsatellite instability (MSI) and loss of heterozygosity (LOH) at chromosome 8p in early stage non-small cell lung cancer (NSCLC) of 47 patients with stage I or II disease (25 squamous cell carcinomas and 22 adenocarcinomas). (uni-regensburg.de)
  • Our study showed that an elevated MSI at selected tetranucleotide sequences (EMAST) on chromosome 8p is frequent in early stage squamous cell carcinomas of the lung with lymphatic spread. (uni-regensburg.de)
  • Virtually all chromosome translocations in leukemia show no consistent homologous sequences at the breakpoint regions. (umassmed.edu)
  • PVT1 RNA and MYC protein expression correlated in primary human tumours, and copy number of PVT1 was co-increased in more than 98% of MYC-copy-increase cancers. (springernature.com)
  • These cytokine response changes were consistent with those seen in S. aureus-challenged peritoneal macrophages from CSS 18 mice (which contain A/J chromosome 18 but are otherwise C57BL/6J), but not C57BL/6J mice. (elsevier.com)
  • Identification of a dynamic core transcriptional network in t(8;21) AML that regulates differentiation block and self-renewal. (nih.gov)
  • The karyotypes of the 2 lines show several marker chromosomes in common but the resistant line contained a chromosome 8 and a 17 which were absent from the earlier sensitive line. (dundee.ac.uk)
  • The copy number analysis of chromosome 8. (nih.gov)
  • While this observation needs to be further extended, the data suggest that chromosome 8 copy n umber may be used as a possible marker to identify a subgroup of patients with infiltrating ductal carcinoma associated with a poor prognosis. (elsevier.com)
  • This case adds further evidence for a specific role of G-CSF in the treatment of AML with t(8;21), namely in patients who are not eligible for aggressive chemotherapy . (curehunter.com)