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, Mammalian: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.Chromosomes, Human, Pair 13: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 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, Y: The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.Chromosomes, Human, Pair 8: 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.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, X: The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.Chromosomes, Human, 1-3: The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.Chromosomes, Human, Pair 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosome Painting: A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.Chromosomes, Human, Pair 5: One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).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, 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.In Situ Hybridization, Fluorescence: A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.Chromosomes, Human, Pair 20: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Chromosomes, Artificial, Yeast: Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.Chromosomes, Human, 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.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.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.Ring Chromosomes: Aberrant chromosomes with no ends, i.e., circular.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.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.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.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.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.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.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.Meiosis: A type of CELL NUCLEUS division, occurring during maturation of the GERM CELLS. Two successive cell nucleus divisions following a single chromosome duplication (S PHASE) result in daughter cells with half the number of CHROMOSOMES as the parent cells.Hybrid Cells: Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.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.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.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).Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.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.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.Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.Nondisjunction, Genetic: The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none.Chromosomes, Artificial, Human: DNA constructs that are composed of, at least, all elements, such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, required for successful replication, propagation to and maintainance in progeny human cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.Kinetochores: Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.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)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.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).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.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.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.Chromosomal Instability: An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.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.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.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.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Chromosome Fragility: Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.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.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.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.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.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.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.Repetitive Sequences, Nucleic Acid: Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).Diploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.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)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.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Abnormalities, MultiplePolytene Chromosomes: Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.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)Polyploidy: The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.DNA Replication: The process by which a DNA molecule is duplicated.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.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).Gene Dosage: The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.Loss of Heterozygosity: The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.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.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.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.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.Genetic Variation: Genotypic differences observed among individuals in a population.Cytogenetics: A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.Karyotype: The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)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.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.Cosmids: Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.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.)Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.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.Sex Chromosome Disorders: Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).Monosomy: The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.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.Spermatocytes: Male germ cells derived from SPERMATOGONIA. The euploid primary spermatocytes undergo MEIOSIS and give rise to the haploid secondary spermatocytes which in turn give rise to SPERMATIDS.Genes, X-Linked: Genes that are located on the X CHROMOSOME.Sequence Tagged Sites: Short tracts of DNA sequence that are used as landmarks in GENOME mapping. In most instances, 200 to 500 base pairs of sequence define a Sequence Tagged Site (STS) that is operationally unique in the human genome (i.e., can be specifically detected by the polymerase chain reaction in the presence of all other genomic sequences). The overwhelming advantage of STSs over mapping landmarks defined in other ways is that the means of testing for the presence of a particular STS can be completely described as information in a database.Polymorphism, Restriction Fragment Length: Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.DNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.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.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.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.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.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.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).Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Azure Stains: PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Chromosomes, Archaeal: Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.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.Chromosome Breakpoints: The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.Contig Mapping: Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.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)Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.Ploidies: The degree of replication of the chromosome set in the karyotype.Homozygote: An individual in which both alleles at a given locus are identical.Haploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.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.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.Genetic Loci: Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.DNA 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.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)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)Gene Duplication: Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.Hybridization, Genetic: The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.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.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.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.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.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)Genes, Bacterial: The functional hereditary units of BACTERIA.Genome, Plant: The genetic complement of a plant (PLANTS) as represented in its DNA.DNA, Neoplasm: DNA present in neoplastic tissue.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.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.Syndrome: A characteristic symptom complex.Pachytene Stage: The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.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.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.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.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.DNA, Fungal: Deoxyribonucleic acid that makes up the genetic material of fungi.Genes, Y-Linked: Genes that are located on the Y CHROMOSOME.Euchromatin: Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.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, Tumor Suppressor: Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.DNA, Plant: Deoxyribonucleic acid that makes up the genetic material of plants.Aurora Kinases: A family of highly conserved serine-threonine kinases that are involved in the regulation of MITOSIS. They are involved in many aspects of cell division, including centrosome duplication, SPINDLE APPARATUS formation, chromosome alignment, attachment to the spindle, checkpoint activation, and CYTOKINESIS.Sex Determination Processes: The mechanisms by which the SEX of an individual's GONADS are fixed.Down Syndrome: A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)Genes, Insect: The functional hereditary units of INSECTS.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.Meiotic Prophase I: The prophase of the first division of MEIOSIS (in which homologous CHROMOSOME SEGREGATION occurs). It is divided into five stages: leptonema, zygonema, PACHYNEMA, diplonema, and diakinesis.Quantitative Trait, Heritable: A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)Radiation Hybrid Mapping: A method for ordering genetic loci along CHROMOSOMES. The method involves fusing irradiated donor cells with host cells from another species. Following cell fusion, fragments of DNA from the irradiated cells become integrated into the chromosomes of the host cells. Molecular probing of DNA obtained from the fused cells is used to determine if two or more genetic loci are located within the same fragment of donor cell DNA.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.Genetic Heterogeneity: The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)DNA Restriction Enzymes: Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.Sex Chromosome Disorders of Sex Development: Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM.

Partial trisomy D: a diagnostic and cytogenetic dilemma. (1/193)

An 18-month-old proposita with psychomotor retardation and other congenital abnormalities is presented. Chromosomal analysis of both parents proved normal. However, the karyotype of the proposita contained 47 chromosomes in both lymphocytes and cultured fibroblasts. The marker chromosome proved to be a deleted No. 14 or 15. Comparison of the reported cases of partial trisomy D indicates that a definitive clinical syndrome is not apparent in either case.  (+info)

Somatic rearrangement of chromosome 14 in human lymphocytes. (2/193)

Ataxia-telangiectasia is a rare genetic disorder associated with immune deficiency, chromosome instability, and a predisposition to lymphoid malignancy. We have detected chromosomally anomalous clones of lymphocytes in eight patients with this disorder. Chromosome banding disclosed that the clones are consistently marked by structural rearrangement of the long arm (q) of chromosome 14. A translocation involving 14q was found in clones obtained from seven of the eight patients whereas a ring 14 chromosome was found in a clone obtained from the other. These findings as well as data obtained by others for patients with ataxia-telangiectasia suggest that structural rearrangement of 14q is the initial chromosomal change in lymphocyte clones of patients with this disorder. Chromosomes of lymphocytes from one of the patients were studied before and after the onset of chronic lymphocytic leukemia. Before leukemia was diagnosed, the patient had a lymphocyte clone with a 14q translocation. This clone appears to have given rise to the leukemic cells. We hypothesize that structural rearrangement of 14q is directly related to abnormal growth of lymphocytes and that it may be a step toward the development of lymphoid malignancies. Increasing evidence, provided by others, for the nonrandom involvement of 14q in African-type Burkitt's lymphoma and other lymphoid neoplasms further strengthens this hypothesis.  (+info)

Loss of Rh antigen associated with acquired Rh antibodies and a chromosome translocation in a patient with myeloid metaplasia. (3/193)

Myeloid metaplasia is a clonal disease of the marrow pluripotent stem cell in which a constant cytogenetic abnormality could result in an altered antigenic characteristic of hematopoietic cells. A 57-yr-old man who had acquired myeloid metaplasia at age 37 was noted to be Rh negative, although blood typing at age 33 was Rh positive. His erythrocytes reacted with anti-c and anti-e, typical for an Rh negative individual. Analysis of 11 metaphase bone marrow cells by G-banding revealed 46 chromosomes with a consistent anomaly in 100% of cells involving chromosomes 1 and 13. The changes were consistent with a reciprocal translocation, with break points at approximately 1p32 and 13q22, although break points at 1p13 and 13q14 were also possible. Since previous cytogenetic data have localized the Rh gene to the short arm of chromosome 1, our data indicate the Rh gene lies within the segment u13 leads to 1p32. Serum of this patient had circulating anti-D and anti-C antibodies. Consequently, this patient lost immunologic tolerance to a "self antigen" after losing the ability to express this antigen.  (+info)

Trisomy 13 and Rubinstein-Taybi syndrome. (4/193)

Initial diagnosis of Rubinstein-Taybi syndrome was made in an infant with a prominent nose and broad thumbs and first toes. However, due to the presence of other anomalies such as low-set, malformed ears, anti-mongoloid slant of the eyes, colobomata of the iris, and cleft palate, cytogenetic studies were carried out and the diagnosis of trisomy 13 was confirmed. Since, occasionally, trisomy 13 syndrome may mimic the Rubinstein-Taybi syndrome, cytogenetic studies should be considered in all patients with clinical diagnosis of Rubinstein-Taybi syndrome.  (+info)

Chromosomal location of the genes for human immunoglobulin heavy chains. (5/193)

We have studied somatic cell hybrids between P3x63Ag8 mouse myeloma cells deficient in hypoxanthine phosphoribosyltransferase (EC 2.4.2.8) and either human peripheral lymphocytes or human lymphoblastoid or myeloma cells for the production of human immunoglobulin chains and for the expression of enzyme markers assigned to each of the different human chromosomes. Human chromosome 14 was the only human chromosome present in all independent hybrids producing mu, gamma, and alpha human heavy chains. In two of the independent hybrids that produced human heavy chains, human chromosome 14 was the only human chromosome present in the hybrid cells. Loss of human chromosome 14 from these hybrids resulted in the concomitant loss of their ability to produce human immunoglobulin heavy chains. In view of these results, we conclude that the genes for human immunoglobulin heavy chains are located on human chromosome 14 in immunoglobulin-producing human cells.  (+info)

Specific chromosome aberrations in ataxia telangiectasia. (6/193)

Cytogenetic observations on seven cases of ataxia telangiectasia are presented. The aberration frequency was found to be increased in all of them with a specificity for the involvement of the D-group chromosomes in rearrangements. Clones of cytogenetically abnormal cells were observed in the lymphocytes of three cases and in the cultured skin fibroblasts of two cases, again with a specificity for D-group involvement. G-banding shows that chromosome 14 is frequently involved in rearrangements in clone cells and that the band 14q12 may be a highly specific exchange point. The significance of lymphocyte clones with a proliferative advantage in vivo is discussed. Cytogenetic studies of the parents and sibs of these cases are also reported.  (+info)

Klinefelter's syndrome associated with a D/D translocation. (7/193)

A case of Klinefelter's syndrome and a simultaneous familial D/D translocation is described. The clinical, endocrine, and psychiatric features were typical of those found in Klinefelter's syndrome. Other family members showed no obvious abnormality despite presence of the D/D translocation.  (+info)

Association of D/D translocations with fetal wastage and aneuploidy. A report of four families. (8/193)

Four families are described with a t(13q14q) segregating. Two of them were identified through index cases with Down's syndrome; their karotypes revealed the unusual 46,XY, -13, -14, +t(13q14q), +21. The other two families were identified through a chromosomal study of parents with repeated spontaneous abortions. Analysis of data on 3 of these 4 families and on 7 other from the published reports showed no evidence of increased fetal wastage among 13/14 carriers. However, the risk of producing offspring with various types of aneuploidy may be greater among carriers than among persons with a normal chromosome pattern. Qualitative and quantitative differences in D/D translocations may account for the observed variation in clinical findings. These differences add to the problem of determining genetic risks from an analysis of grouped data.  (+info)

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Complete information for ESD gene (Protein Coding), Esterase D, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
TY - JOUR. T1 - DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation. AU - Kato, Takema. AU - Inagaki, Hidehito. AU - Tong, Maoqing. AU - Kogo, Hiroshi. AU - Ohye, Tamae. AU - Yamada, Kouji. AU - Tsutsumi, Makiko. AU - Emanuel, Beverly S.. AU - Kurahashi, Hiroki. PY - 2011/9/14. Y1 - 2011/9/14. N2 - Background. Cumulative evidence suggests that DNA secondary structures impact DNA replication, transcription and genomic rearrangements. One of the best studied examples is the recurrent constitutional t(11;22) in humans that is mediated by potentially cruciform-forming sequences at the breakpoints, palindromic AT-rich repeats (PATRRs). We previously demonstrated that polymorphisms of PATRR sequences affect the frequency of de novo t(11;22)s in sperm samples from normal healthy males. These studies were designed to determine whether PATRR polymorphisms affect DNA secondary structure, thus leading to variation in translocation frequency. ...
Preparation Methods of Human Metaphase Chromosomes for their Proteome Analysis.: Chromosomes are supermolecules that contain most of the DNA within a cell and a
Looking for Partial trisomy? Find out information about Partial trisomy. Deviation from a normal haploid, diploid, or polyploid chromosome complement by the presence in excess of, or in defect of, one or more individual chromosomes Explanation of Partial trisomy
Treatments for Chromosome 4, partial trisomy distal 4q including drugs, prescription medications, alternative treatments, surgery, and lifestyle changes.
Chromosome translocations in peripheral blood lymphocytes of normal, healthy humans increase with age, but the effects of gender, race, and cigarette smoking on background translocation yields have not been examined systematically. Further, the shape of the relationship between age and translocation frequency (TF) has not been definitively determined. We collected existing data from 16 laboratorie
TY - JOUR. T1 - Pregnancy outcomes of reciprocal translocation carriers who have a history of repeated pregnancy loss. AU - Ozawa, Nobuaki. AU - Maruyama, Tetsuo. AU - Nagashima, Takashi. AU - Ono, Masanori. AU - Arase, Toru. AU - Ishimoto, Hitoshi. AU - Yoshimura, Yasunori. PY - 2008/10. Y1 - 2008/10. N2 - Cytogenetic investigation of 2,324 Japanese couples with repeated pregnancy loss revealed that 4.91% of couples (n = 114) had chromosome abnormalities including reciprocal translocation (n = 74), Robertsonian translocation (n = 23), and inversion (n = 10). Parental reciprocal translocation was a significant predictor of subsequent miscarriage (adjusted odds ratio: 3.6, 95% confidence interval: 1.8-7.1), and most of the miscarriages of the carrier couples were inevitable because of abnormal karyotypes, despite appropriate treatments.. AB - Cytogenetic investigation of 2,324 Japanese couples with repeated pregnancy loss revealed that 4.91% of couples (n = 114) had chromosome abnormalities ...
Lucas diagnosis of Partial Trisomy 13 (PT13) is extremely rare! While the typical human has two chromosomes, an individual with a chromosomal disorder has an extra chromosome (full or partial) present. With Trisomy 13, this extra chromosome causes severe intellectual disability and physical problems. There are 4 variations of Trisomy 13: Full Trisomy 13 -…
T8M, partial trisomy 8, . Differing proportions of 47,XY, +der(8) and 46 XY were present in the different fetal tissues sampled. The highest proportion of 47,XY,+der(8)
So I decided to follow the Magic Squid, hoping it would guide me back to dancer storage because I thought, Why would Magic Squid deceive me?
Emerson 19 months old Partial Trisomy 18 Parents: Tyson and Terra Garst Omaha, NE Emerson was diagnosed with Partial Trisomy 18q at 17 weeks gestation due to family history of a translocation as well as "soft" signs found on ultrasound (club foot and nuchal fold thickening). Emerson was induced at 40 weeks 2 days and immediately admitted to…… Continue Reading. ...
The PDB archive contains information about experimentally-determined structures of proteins, nucleic acids, and complex assemblies. As a member of the wwPDB, the RCSB PDB curates and annotates PDB data according to agreed upon standards. The RCSB PDB also provides a variety of tools and resources. Users can perform simple and advanced searches based on annotations relating to sequence, structure and function. These molecules are visualized, downloaded, and analyzed by users who range from students to specialized scientists.
Emerson 19 months old Partial Trisomy 18 Parents: Tyson and Terra Garst Omaha, NE Emerson was diagnosed with Partial Trisomy 18q at 17 weeks gestation due to family history of a translocation as well as "soft" signs found on ultrasound (club foot and nuchal fold thickening). Emerson was induced at 40 weeks 2 days and immediately admitted to…… Continue Reading. ...
DI-fusion, le Dépôt institutionnel numérique de lULB, est loutil de référencementde la production scientifique de lULB.Linterface de recherche DI-fusion permet de consulter les publications des chercheurs de lULB et les thèses qui y ont été défendues.
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Aberg K, Saetre P, Jareborg N, Jazin E (May 2006). "Human QKI, a potential regulator of mRNA expression of human ... The MIAT gene is located on Chromosome 22 and is 30,051 bases in length. MIAT's other name, gomafu, is a word in Japanese that ... "Variation of gene-based SNPs and linkage disequilibrium patterns in the human genome". Human Molecular Genetics. 13 (15): 1623- ... The gene is found not only in humans, but also in mice and rats. Orthologs are present in syntenic positions of frog and ...
Lu Z, Hu X, Li Y, Zheng L, Zhou Y, Jiang H, Ning T, Basang Z, Zhang C, Ke Y (August 2004). "Human papillomavirus 16 E6 ... Other abnormalities in this region of chromosome 15 can also cause Angelman syndrome. These chromosomal changes include ... Anan T, Nagata Y, Koga H, Honda Y, Yabuki N, Miyamoto C, Kuwano A, Matsuda I, Endo F, Saya H, Nakao M (November 1998). "Human ... Ubiquitin-protein ligase E3A (UBE3A) also known as E6AP ubiquitin-protein ligase (E6AP) is an enzyme that in humans is encoded ...
... and CRF2-4 genes cluster on human chromosome 21 and mouse chromosome 16". Mamm Genome. 4 (6): 338-42. doi:10.1007/BF00357094. ... 1994). "The SON gene encodes a conserved DNA binding protein mapping to human chromosome 21". Ann. Hum. Genet. 58 (Pt 1): 25-34 ... 2002). "From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map". Genomics. ... 2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311-9. doi:10.1038/35012518. PMID 10830953. Wynn SL, ...
permanent dead link] Hurley, Dan (2013). "Investigators Silence Trisomy 21 Chromosome in Human Down Syndrome Cells". Neurology ... 13 (17): 14-15. doi:10.1097/01.NT.0000434604.55014.fd. ISSN 1533-7006. Rudolph, Uwe; Jensen, Henrik Sindal; Nichol, Kathryn; ...
rRNA have been shown to be the origin of species-specific microRNAs, like miR-663 in humans and miR-712 in mouse. These miRNAs ... The 45S rDNA is organized into 5 clusters (each has 30-40 repeats) on chromosomes 13, 14, 15, 21, and 22. These are transcribed ... In contrast, eukaryotes generally have many copies of the rRNA genes organized in tandem repeats; in humans approximately 300- ... and human (eukaryote): Note that the S units of the subunits (or the rRNAs) cannot simply be added because they represent ...
"An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes". Human Genetics. 34 (2 ... In humans, the NORs are located on the short arms of the acrocentric chromosomes 13, 14, 15, 21 and 22. These regions code for ... "Combination of silver and fluorescent staining for metaphase chromosomes". American Journal of Human Genetics. 30 (1): 76-9. ... "Human Genome Overview". ncbi.nlm.nih.gov/. Genome Reference Consortium. Retrieved 17 June 2017. Floutsakou I, Agrawal S, Nguyen ...
Human chromosomes 13, 14, 15, 21, and 22 have NORs, which increase the silver stain activity by at least 50 times.[citation ... C. R. Merril, R. C. Switzer, M. L. Van Keuren: Trace polypeptides in cellular extracts and human body fluids detected by two- ... 13, 1992, S. 429-439. PMID 1425556. C. Lelong, M. Chevallet, S. Luche, T. Rabilloud: Silver staining of proteins in 2DE gels. ... 13 (4): 213-20. doi:10.1016/S1054-8807(03)00153-4. PMID 15210137. Barnini S, Dodi C, Campa M (2004). "Enhanced resolution of ...
In the human genome there are 5 chromosomes with nucleolus organizer regions: the acrocentric chromosomes 13, 14, 15, 21 and 22 ... Conserved sequences at coding regions of rDNA allow comparisons of remote species, even between yeast and human. Human 5.8S ... In the nucleus, the rDNA region of the chromosome is visualized as a nucleolus which forms expanded chromosomal loops with rDNA ... Between remote species as human and frog comparison of sequences at ITS tracts is not appropriate. ...
In humans, when a Robertsonian translocation joins the long arm of chromosome 21 with the long arm of chromosomes 14 or 15, the ... The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations. Annals of Human Genetics 1989;53: ... Chromosome studies. I. Taxonomic relationships shown in the chromosomes of Tettigidae and Acrididae. V-shaped chromosomes and ... In humans, Robertsonian translocations generally occur in the five acrocentric chromosome pairs, namely 13, 14, 15, 21 and 22. ...
With high efficiency and specificity, this glycosylase repairs more than 10,000 bases damaged daily in the human cell. Human ... and mapping to chromosome 12q23-q24.1". Genomics. 36 (3): 408-16. doi:10.1006/geno.1996.0485. PMID 8884263. Slupphaug G, Mol CD ... The human gene encodes one of several uracil-DNA glycosylases. Alternative promoter usage and splicing of this gene leads to ... The human gene is well researched and orthologs exist ubiquitously among prokaryotes and eukaryotes and even in some DNA ...
"Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15". Human Molecular Genetics. 4 (1): 9- ... Bardet-Biedl syndrome 4 is a protein that in humans is encoded by the BBS4 gene. This gene encodes a protein which contains ... GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome Human BBS4 genome location and BBS4 gene details page in the UCSC Genome ... "Human PubMed Reference:". "Mouse PubMed Reference:". Carmi R, Rokhlina T, Kwitek-Black AE, Elbedour K, Nishimura D, Stone EM, ...
"Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15". Human Molecular Genetics. 4 (1): 9- ... "Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)". Human Molecular Genetics. 10 (8): ... Human Mutation. 11 (5): 387-394. doi:10.1002/(SICI)1098-1004(1998)11:53.0.CO;2-8. ISSN 1098-1004. Buskila, Dan; Neumann, Lily; ... American Journal of Human Genetics. 59 (2): 385-391. ISSN 0002-9297. PMC 1914732 . PMID 8755925. Raz, Aviad E.; Atar, Marcela; ...
RNA, ribosomal 5, also known as RNR5, is a human gene. Genes for ribosomal RNA are clustered on the short arms of chromosomes ... 1985). "Variation among human 28S ribosomal RNA genes". Proc. Natl. Acad. Sci. U.S.A. 82 (22): 7666-70. doi:10.1073/pnas.82.22. ... "Human PubMed Reference:". "Entrez Gene: RNR5 RNA, ribosomal 5". Kern SE, Kinzler KW, Bruskin A, et al. (1991). "Identification ... The gene for RNR5 exists in multiple copies on chromosome 22. Each gene cluster contains 30-40 copies and encodes a 45S RNA ...
Protein diaphanous homolog 1 is a protein that in humans is encoded by the DIAPH1 gene. This gene is a homolog of the ... Leon PE, Raventos H, Lynch E, Morrow J, King MC (June 1992). "The gene for an inherited form of deafness maps to chromosome ... "Human PubMed Reference:". "Mouse PubMed Reference:". Lynch ED, Lee MK, Morrow JE, Welcsh PL, León PE, King MC (November 1997 ... a novel regulatory subunit for human Cdc7 kinase". The EMBO Journal. 21 (12): 3171-81. doi:10.1093/emboj/cdf290. PMC 126049 . ...
"Chromosomes, Chromosome Anomalies". *Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. ... A chromosome is metacentric if its two arms are roughly equal in length. In a normal human karyotype, five chromosomes are ... Humans do not possess telocentric chromosomes. If the chromosome's centromere is located closer to its end than to its center, ... In rare cases in humans, neocentromeres can form at new sites on the chromosome. There are currently over 90 known human ...
1995). "Cloning, sequencing, and mapping of the human chromosome 14 heat shock protein gene (HSPA2)". Genomics. 23 (1): 85-93. ... 1994). "Human immunodeficiency virus type 1 interaction with the membrane of CD4+ cells induces the synthesis and nuclear ... Heat shock-related 70 kDa protein 2 is a protein that in humans is encoded by the HSPA2 gene. GRCh38: Ensembl release 89: ... 2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nat. Cell Biol. 6 (2): 97 ...
They are vital to spindle formation in mitotic and meiotic and chromosomes separation during cell division and are also ... human): 14-15 In contrast to animals, fungi and non-vascular plants, the cells of flowering plants lack dynein motors. However ... human): 40 Chromadorea ( nematode C. elegans): 15 Kinesins are a group of related motor proteins that use a microtubule track ... human): 45 Dyneins are microtubule motors capable of a retrograde sliding movement. Dynein complexes are much larger and more ...
... encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, ... Humans contain two members, TPTE and TPTE2, which result from a primate-specific duplication [1]. Most reports indicate that ... including humans, mice, zebrafish, frogs, and sea squirt. The first voltage sensitive phosphatase was discovered as a result of ... "A human phospholipid phosphatase activated by a transmembrane control module". Journal of Lipid Research. 53 (11): 2266-74. doi ...
2000). "Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21". Hum. ... encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, ... Putative tyrosine-protein phosphatase TPTE is an enzyme that in humans is encoded by the TPTE gene. TPTE is a member of a large ... 2002). "The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE ...
Chromosome 1 (human) Chromosome 2 (human) Chromosome 3 (human) Chromosome 4 (human) Chromosome 5 (human) Chromosome 6 (human) ... human) Chromosome 19 (human) Chromosome 20 (human) Chromosome 21 (human) Chromosome 22 (human) Chromosome X (human) Chromosome ... Chromosome 7 (human) Chromosome 8 (human) Chromosome 9 (human) Chromosome 10 (human) Chromosome 11 (human) Chromosome 12 (human ... human) Chromosome 14 (human) Chromosome 15 (human) Chromosome 16 (human) Chromosome 17 (human) Chromosome 18 ( ...
2004). "Human ileal bile acid-binding protein promoter and the effects of CDX2". Biochim. Biophys. Acta. 1630 (2-3): 138-43. ... Birkenmeier EH, Rowe LB, Crossman MW, Gordon JI (1995). "Ileal lipid-binding protein (Illbp) gene maps to mouse chromosome 11 ... Fatty acid binding protein 6, ileal (gastrotropin), also known as FABP6, is a protein which in humans is encoded by the FABP6 ... 1999). "Identification of a bile acid-responsive element in the human ileal bile acid-binding protein gene. Involvement of the ...
"Banding patterns of the chromosomes of the Rhesus monkey (Macaca mulatta)". Journal of Human Evolution 3 (4): 291-295. doi: ... in human blood reacting with anti-rhesus sera and with human isoantibodies". J Exp Med 74 (4): 309-320. PMC 2135190. PMID ... In: Mitruka, B. M., Rawnsley, H. M., Vadehra, D. V., (eds.) Animals for medical research: models for the study of human disease ... "DNA sequence of Rhesus macaque has evolutionary, medical implications" (Nota de prensa). Human Genome Sequencing Center. 13 ...
... is a human tumor suppressor gene (specifically, a caretaker gene), found in all humans; its protein, also called by the ... Ko E, Lee J, Lee H (2008). "Essential role of brc-2 in chromosome integrity of germ cells in C. elegans". Mol. Cell. 26 (6): ... In mice and humans, BRCA2 primarily mediates orderly assembly of RAD51 on single-stranded (ss) DNA, the form that is active for ... Human DMC1 interacts directly with each of a series of repeat sequences in the BRCA2 protein (called BRC repeats) that ...
... the human homolog of S. cerevisiae SNF2/SWI2 and Drosophila brm genes, to chromosome region 9p23-p24, by in situ hybridization ... "The human SWI/SNF-B chromatin-remodeling complex is related to yeast rsc and localizes at kinetochores of mitotic chromosomes ... Cho H, Orphanides G, Sun X, Yang XJ, Ogryzko V, Lees E, Nakatani Y, Reinberg D (Sep 1998). "A human RNA polymerase II complex ... Cho H, Orphanides G, Sun X, Yang XJ, Ogryzko V, Lees E, Nakatani Y, Reinberg D (Sep 1998). "A human RNA polymerase II complex ...
Known disorders in humans include Wolf-Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome ... It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes. Chromosome mutation ... on chromosome 17. Translocations: A portion of one chromosome is transferred to another chromosome. There are two main types of ... Robertsonian translocation: An entire chromosome has attached to another at the centromere - in humans these only occur with ...
Human chromosome 2 resulted from a fusion of two ancestral chromosomes that remained separate in the chimpanzee lineage. " The ... Mitochondrial DNA and human history. The Human Genome. 2003-10-09 [2006-09-19]. (原始内容存档于2015-09-07) (英语).. ... 大多數人類基因擁有許多的外顯子,且人類的內含子比位在其兩端的外顯子更長。這些基因參差不齊地分佈在染色體中,每一個染色體皆含
In humans, the chromosomes number 13, 14, 15, 21 and 22 are examples of SAT chromosomes. Rieger, R.; Michaelis, A.; Green, M.M ... A satellite chromosome or SAT chromosome has a chromosome segment that is separated from the main body of the chromosome by ... "Human acrocentric chromosomes with transcriptionally silent nucleolar organizer regions associate with nucleoli", The EMBO ... The satellite at metaphase appears to be attached to the rest of the body of chromosomes by a thread of chromatin. There are at ...
Known disorders in humans include Wolf-Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome ... It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes. Chromosome mutation ... An example of trisomy in humans is Down syndrome, which is a developmental disorder caused by an extra copy of chromosome 21; ... Acquired chromosome abnormalities[edit]. Most cancers, if not all, could cause chromosome abnormalities,[12] with either the ...
Human chromosome 13: entries, gene names and cross-references to MIM. *MIM cross-references. Online Mendelian Inheritance in ... List of human entries with polymorphisms or disease mutations. *Human polymorphisms and disease mutations. Index of human ... "Genetic variants of the human dipeptide transporter PEPT1.". Anderle P., Nielsen C.U., Pinsonneault J., Krog P.L., Brodin B., ... "Genetic variants of the human dipeptide transporter PEPT1.". Anderle P., Nielsen C.U., Pinsonneault J., Krog P.L., Brodin B., ...
Known disorders in humans include Wolf-Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome ... It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes. Chromosome mutation ... on chromosome 17. Translocations: A portion of one chromosome is transferred to another chromosome. There are two main types of ... Robertsonian translocation: An entire chromosome has attached to another at the centromere - in humans these only occur with ...
Aberg K, Saetre P, Jareborg N, Jazin E (May 2006). "Human QKI, a potential regulator of mRNA expression of human ... The MIAT gene is located on Chromosome 22 and is 30,051 bases in length. MIATs other name, gomafu, is a word in Japanese that ... "Variation of gene-based SNPs and linkage disequilibrium patterns in the human genome". Human Molecular Genetics. 13 (15): 1623- ... The gene is found not only in humans, but also in mice and rats. Orthologs are present in syntenic positions of frog and ...
Lu Z, Hu X, Li Y, Zheng L, Zhou Y, Jiang H, Ning T, Basang Z, Zhang C, Ke Y (August 2004). "Human papillomavirus 16 E6 ... Other abnormalities in this region of chromosome 15 can also cause Angelman syndrome. These chromosomal changes include ... Anan T, Nagata Y, Koga H, Honda Y, Yabuki N, Miyamoto C, Kuwano A, Matsuda I, Endo F, Saya H, Nakao M (November 1998). "Human ... Ubiquitin-protein ligase E3A (UBE3A) also known as E6AP ubiquitin-protein ligase (E6AP) is an enzyme that in humans is encoded ...
... and CRF2-4 genes cluster on human chromosome 21 and mouse chromosome 16". Mamm Genome. 4 (6): 338-42. doi:10.1007/BF00357094. ... 1994). "The SON gene encodes a conserved DNA binding protein mapping to human chromosome 21". Ann. Hum. Genet. 58 (Pt 1): 25-34 ... 2002). "From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map". Genomics. ... 2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311-9. doi:10.1038/35012518. PMID 10830953. Wynn SL, ...
Categories: Chromosomes, Human, 13-15 Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ...
HUMAN HEREDITY presents the concepts of human genetics in clear, concise language and provides relevant examples that you can ... 4. Pedigree Analysis in Human Genetics. 5. The Inheritance of Complex Traits. 6. Cytogenetics: Karyotypes and Chromosome ... Human Heredity: Principles and Issues / Edition 9. HUMAN HEREDITY presents the concepts of human genetics in clear, concise ... Empowerment Series: Understanding Human Behavior and the Social Zastrow and Kirst-Ashmans UNDERSTANDING HUMAN BEHAVIOR AND THE ...
In case of humans, Robertsonian translocations occur between chromosome 14 and chromosomes 13, 15 or 21. ... In humans, chromosome number 13, 14, 15, 21 and 22 are acrocentric. Robertsonian translocations are also termed whole-arm ... Robertsonian translocation is a rare rearrangement which commonly occurs in acrocentric chromosomes. Acrocentric chromosomes ... The total chromosome number is reduced to 45 as two of the acrocentrics have fused to form one (new) chromosome. ...
Y-chromosome: The male-specific sex chromosome in humans, which is much smaller than the X-chromosome. 95% of the Y-chromosome ... Acrocentric chromosome: A chromosome with its centromere towards one end. Human chromosomes 13,14,15,21,22 are acrocentric. ... Human chromosome 2 is a result of a centric fusion between two ancestral ape chromosomes (gorillas have 24 pairs of chromosomes ... See Flaquer, 2008; Evolution of Sex Chromosomes in Human Molecular Genetics and Map Viewer: Y-chromosome. ...
permanent dead link] Hurley, Dan (2013). "Investigators Silence Trisomy 21 Chromosome in Human Down Syndrome Cells". Neurology ... 13 (17): 14-15. doi:10.1097/01.NT.0000434604.55014.fd. ISSN 1533-7006. Rudolph, Uwe; Jensen, Henrik Sindal; Nichol, Kathryn; ...
rRNA have been shown to be the origin of species-specific microRNAs, like miR-663 in humans and miR-712 in mouse. These miRNAs ... The 45S rDNA is organized into 5 clusters (each has 30-40 repeats) on chromosomes 13, 14, 15, 21, and 22. These are transcribed ... In contrast, eukaryotes generally have many copies of the rRNA genes organized in tandem repeats; in humans approximately 300- ... and human (eukaryote): Note that the S units of the subunits (or the rRNAs) cannot simply be added because they represent ...
"An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes". Human Genetics. 34 (2 ... In humans, the NORs are located on the short arms of the acrocentric chromosomes 13, 14, 15, 21 and 22. These regions code for ... "Combination of silver and fluorescent staining for metaphase chromosomes". American Journal of Human Genetics. 30 (1): 76-9. ... "Human Genome Overview". ncbi.nlm.nih.gov/. Genome Reference Consortium. Retrieved 17 June 2017. Floutsakou I, Agrawal S, Nguyen ...
The PRAME family has 26 members on human chromosome 1. In the macaque, it has eight, and has been very simple and stable for ... coming to rely on handouts or refuse from humans.[5] They adapt well to human presence, and form larger troops in human- ... So, macaque, chimpanzee, and human chromosomes are mosaics of each other.[citation needed] ... The X chromosome has three times more rearrangements than other chromosomes. The macaque gained 1,358 genes by duplication.[ ...
Human chromosomes 13, 14, 15, 21, and 22 have NORs, which increase the silver stain activity by at least 50 times.[citation ... C. R. Merril, R. C. Switzer, M. L. Van Keuren: Trace polypeptides in cellular extracts and human body fluids detected by two- ... 13, 1992, S. 429-439. PMID 1425556. C. Lelong, M. Chevallet, S. Luche, T. Rabilloud: Silver staining of proteins in 2DE gels. ... 13 (4): 213-20. doi:10.1016/S1054-8807(03)00153-4. PMID 15210137. Barnini S, Dodi C, Campa M (2004). "Enhanced resolution of ...
In the human genome there are 5 chromosomes with nucleolus organizer regions: the acrocentric chromosomes 13, 14, 15, 21 and 22 ... Conserved sequences at coding regions of rDNA allow comparisons of remote species, even between yeast and human. Human 5.8S ... In the nucleus, the rDNA region of the chromosome is visualized as a nucleolus which forms expanded chromosomal loops with rDNA ... Between remote species as human and frog comparison of sequences at ITS tracts is not appropriate. ...
In humans, when a Robertsonian translocation joins the long arm of chromosome 21 with the long arm of chromosomes 14 or 15, the ... The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations. Annals of Human Genetics 1989;53: ... Chromosome studies. I. Taxonomic relationships shown in the chromosomes of Tettigidae and Acrididae. V-shaped chromosomes and ... In humans, Robertsonian translocations generally occur in the five acrocentric chromosome pairs, namely 13, 14, 15, 21 and 22. ...
With high efficiency and specificity, this glycosylase repairs more than 10,000 bases damaged daily in the human cell. Human ... and mapping to chromosome 12q23-q24.1". Genomics. 36 (3): 408-16. doi:10.1006/geno.1996.0485. PMID 8884263. Slupphaug G, Mol CD ... The human gene encodes one of several uracil-DNA glycosylases. Alternative promoter usage and splicing of this gene leads to ... The human gene is well researched and orthologs exist ubiquitously among prokaryotes and eukaryotes and even in some DNA ...
"Banding patterns of the chromosomes of the Rhesus monkey (Macaca mulatta)". Journal of Human Evolution 3 (4): 291-295. doi: ... in human blood reacting with anti-rhesus sera and with human isoantibodies". J Exp Med 74 (4): 309-320. PMC 2135190. PMID ... In: Mitruka, B. M., Rawnsley, H. M., Vadehra, D. V., (eds.) Animals for medical research: models for the study of human disease ... "DNA sequence of Rhesus macaque has evolutionary, medical implications" (Nota de prensa). Human Genome Sequencing Center. 13 ...
"Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15". Human Molecular Genetics. 4 (1): 9- ... Bardet-Biedl syndrome 4 is a protein that in humans is encoded by the BBS4 gene. This gene encodes a protein which contains ... GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome Human BBS4 genome location and BBS4 gene details page in the UCSC Genome ... "Human PubMed Reference:". "Mouse PubMed Reference:". Carmi R, Rokhlina T, Kwitek-Black AE, Elbedour K, Nishimura D, Stone EM, ...
"Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15". Human Molecular Genetics. 4 (1): 9- ... "Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)". Human Molecular Genetics. 10 (8): ... Human Mutation. 11 (5): 387-394. doi:10.1002/(SICI)1098-1004(1998)11:53.0.CO;2-8. ISSN 1098-1004. Buskila, Dan; Neumann, Lily; ... American Journal of Human Genetics. 59 (2): 385-391. ISSN 0002-9297. PMC 1914732 . PMID 8755925. Raz, Aviad E.; Atar, Marcela; ...
RNA, ribosomal 5, also known as RNR5, is a human gene. Genes for ribosomal RNA are clustered on the short arms of chromosomes ... 1985). "Variation among human 28S ribosomal RNA genes". Proc. Natl. Acad. Sci. U.S.A. 82 (22): 7666-70. doi:10.1073/pnas.82.22. ... "Human PubMed Reference:". "Entrez Gene: RNR5 RNA, ribosomal 5". Kern SE, Kinzler KW, Bruskin A, et al. (1991). "Identification ... The gene for RNR5 exists in multiple copies on chromosome 22. Each gene cluster contains 30-40 copies and encodes a 45S RNA ...
The number of chromosomes a nucleus contains will change from species to species (humans have forty-six chromosomes). Also ... The human genome contains 180 rRNA genes located on the tips of five different chromosomes (chromosomes 13, 14, 15, 21, and 22 ... Chromosomes fill much of the nuclear interior, with each chromosome occupying its own neighborhood. In differentiated human ... Boveri rightly predicted that humans inherit traits on the chromosomes.. During nuclear assembly, membranes reattach to ...
Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 15". Genet Test. 3 (3): 309-322 ... The human leukocyte antigen gene for β2-microglobulin is found at chromosome 15. The following are some of the gene count ... The following is a partial list of genes on human chromosome 15. For complete list, see the link in the infobox on the right. ... The program...recounts how one scientist determined how the deletion of a key sequence of DNA on human chromosome 15 could lead ...
  • Haploid human genomes, which are contained in germ cells (the egg and sperm gamete cells created in the meiosis phase of sexual reproduction before fertilization creates a zygote) consist of three billion DNA base pairs, while diploid genomes (found in somatic cells) have twice the DNA content. (wikipedia.org)
  • While there are significant differences among the genomes of human individuals (on the order of 0.1%), these are considerably smaller than the differences between humans and their closest living relatives, the chimpanzees (approximately 4%) and bonobos. (wikipedia.org)
  • ERCC1 and ERCC4 are the gene names assigned in mammalian genomes, including the human genome (Homo sapiens). (wikipedia.org)
  • genomic region of 5.0-10.8 Mb), for which only one imprinted ortholog is known so far in the human and mouse genomes, and therefore may potentially represent a novel imprinted region. (frontiersin.org)
  • The role of selection in the evolution of human mitochondrial genomes. (wikipedia.org)
  • Kelavkar and Badr (1999) described experiments yielding data that supported the hypothesis that loss of the TP53 gene, or gain-of-function activities resulting from the expression of its mutant forms, regulates ALOX15 promoter activity in human and in mouse, albeit in directionally opposite manners. (wikipedia.org)
  • Kelavkar and Badr (1999) referred to this as evidence that 15-lipoxygenase is a mutator gene. (wikipedia.org)
  • Then, we characterized in detail a macaque ENC and compared it to the orthologous domain in humans, which represents the ancestral genomic structure before ENC seeding. (sciencemag.org)
  • Genomic imprinting has been studied in humans since the early 1980's and accounts for several human disorders. (springer.com)
  • This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. (abnova.com)
  • This study represents the first integrated analysis of miRNA expression, mRNA expression and genomic changes in human breast cancer and may serve as a basis for functional studies of the role of miRNAs in the etiology of breast cancer. (biomedcentral.com)
  • The genomic DNA for ERCC1 was the first human DNA repair gene to be isolated by molecular cloning. (wikipedia.org)
  • Parent-of-origin effects (POE) such as genomic imprinting influence growth and body composition in livestock, rodents, and humans. (frontiersin.org)
  • Comparative in silico analysis of bovine genomic locations show that 32 out of 1,442 known mammalian imprinted genes from human and mouse homologs map to the identified QTL regions. (frontiersin.org)
  • It is only recently that a phase chromosomes are structurally not homo- molecular view of the meiotic cell division is geneous through their length, a new world was beginning to emerge: chapter ten refers to human in the offing. (indigo.ca)
  • The chimpanzee-human last common ancestor , or CHLCA , is the last common ancestor shared by the extant Homo ( human ) and Pan ( chimpanzee and bonobo ) genera of Hominini . (wikipedia.org)
  • While "original divergence" between populations may have occurred as early as 13 million years ago ( Miocene ), hybridization may have been ongoing until as recently as 4 million years ago ( Pliocene ). (wikipedia.org)