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.
Renal function studies in an infant with 4p (-) syndrome. (1/114)An infant with the syndrome of deletion of the short arm of chromosome 4 is described. In addition, this child had renal insufficiency, which is found rarely in association with the 4p(--) syndrome. Previous reports of this syndrome have described only isolated gross structural abnormalites of the urinary tract. In the case discussed here, we present clinical and functional data which indicate that this patient had bilateral renal dysplasia. (+info)
Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes. (2/114)The techniques of somatic cell genetics have been used to establish the linkage relationships of loci coding for two forms (A and B) of hexosaminidase (EC 184.108.40.206; 2-acetamido-2-deoxy-beta-D-glucoside acetamidodeoxyglucohydrolase) and to determine whether a structural relationship exists between these forms. In a series of human-mouse hybrid cell lines, hexosaminidase A and B segregated independently. Our results and those reported by other investigators are used to analyze the proposed structural models for hexosaminidase. We have also been able to establish a syntenic relationship between the gene locus responsible for the expression of hexosaminidase A and those responsible for mannosephosphate isomerase and pyruvate kinase-3 and to assign the gene for hexosaminidase B to chromosome 5 in man. There is thus a linkage between specific human autosomes and enzymes implicated in the production of lipid storage diseases. (+info)
Genetic analysis of the cell surface: association of human chromosome 5 with sensitivity to diphtheria toxin in mouse-human somatic cell hybrids. (3/114)Diphtheria toxin inhibits protein synthesis in eukaryotic cells by catalyzing inactivation of elongation factor 2. The 10,000-fold greater sensitivity in vitro to diphtheria toxin of human cells as compared to mouse cells seems to be attributable to a difference at the level of the cell membrane. Mouse-human cell hybrids are as sensitive to diphtheria toxin as human cells. We have shown that the sensitivity of the hybrid cells is due to a gene or genes located on human chromosome 5. Mouse-human hybrid cells in which chromosome 5 is present are as sensitive to the toxin as human cells, which hybrids without chromosome 5 are as resistant as mouse cells. Entry of toxin into cells seems to be a two-step process involvin, (1) binding of toxin to the cell surface and (2) endocytotic uptake of toxin. The difference in sensitivity between human and mouse cells and between hybrid cells with and without chromosome 5 does not appear to be due to a difference in endocytotic activity and may be due to presence or absence of toxin-specific receptor. (+info)
Fanconi's aplastic anaemia with short stature. Absence of response to human growth hormone. (4/114)A patient with idiopathic marrow hypoplasia associated with short stature and other anomalies (Fanconi's anaemia) is described: treatment with human growth hormone for one year did not accelerate his growth rate or significantly affect his anaemia: androgen treatment considerably improved both features. Endocrine studies suggest that though he had poor and insufficient production of endogenous growth hormone to insulin-induced hypoglycaemia, the major defect in this syndrome is determined more at the end-organ than at the pituitary or gonadal level. (+info)
A new hematologic syndrome with a distinct karyotype: the 5 q--chromosome. (5/114)Five patients, four women and one man, age 32-8- yr, all whites, had refractory anemia with the same abnormal bone marrow karyotype, i.e., a partial deletion of the long arm of the No. 5 chromosome. The hematologic syndrome was practically the same in these five cases. Examination of the blood revealed a moderate to severe, generally macrocytic anemia with slight leukopenia but normal or elevated platelet count. The bone marrow showed a depressed erythroid series and some abnormalities of the granulocytic series with an occasional excess of myeloblasts. Most of the megakaryocytes had a nonlobulated nucleus. These features, as well as cytogenetic, electron microscopic, isotopic, platelet function, and immunologic studies, are described in detail. The relationship of this newly established syndrome to other hematologic diseases is discussed. The syndrome constitutes another example of the association between a specific abnormal chromosome and a distinct hematologic disorder. (+info)
Partial trisomy for the long arms of chromosome no. 5 due to insertion and further 'aneusomie de recombinaison'. (6/114)Five members of a family with a balanced insertion (1;5)(q32;q11q22) are presented. The daughter of one of them shows multiple malformations and a partial trisomy for the long arms of chromosome No. 5 (5q11 to 5q22 segment) resulting from a 'aneusomie de recombinaison' in her mother. The propositus' karyotype is 46,XX,rec(1;5)ins (1;5)(q32;q11q22). This case is the first reported example of an insertion between two chromosomes followed by 'aneusomie de recombinaison'. It also is the first reported case of trisomy invovling the long arms of chromosome No. 5. (+info)
Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring. (7/114)Five cases of chromosome imbalance resulting from 3:1 disjunction of reciprocal translocations are described. A review of the literature suggests this phenomenon is more common than has previously been recognized. (+info)
Chromosomal banding patterns in acute nonlymphocytic leukemia. (8/114)Bone marrow chromosomes obtained from 50 of 55 consecutive adult patients with acute nonlymphocytic leukemia were analyzed with quinacrine fluorescence. Twenty-five patients showed a normal karyotype and 25 an abnormal karyotype on the initial samples available for analysis. Among the 25 patients with abnormalities, the marrow cells contained 48 chromosomes in one case, 47 in two, 46 in ten, 45 in nine, 43 in two, and 42 chromosomes in one case. Seven of the ten patients with 46 chromosomes had abnormalities, primarily balanced translocations, that were not detected with the standard Giemsa stains. The analysis of all of the data available revealed the presence of nonrandom chromosome changes such as the addition of No. 8, the loss of No. 7, and a gain or loss of one No. 21. the most frequent structural rearrangement was the translocation between the long arm of No. 8 and No. 21, which may also be associated with the loss of a sex chromosome. Chromosomal abnormalities decreased or disappeared during remission; the same abnormality recurred in relapse. Chemotherapy did not appear to produce a stable clone of aberrant cells. Evolution of the karyotype occurred in eight patients, in five of whom an additional No. 8 was observed. This pattern of chromosomal evolution in patients with acute leukemia was very similar to that observed in patients with chronic myelogenous leukemia in the blast phase. (+info)
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Chromosome 14 (human)
See also: Category:Genes on human chromosome 14. The following is a partial list of genes on human chromosome 5. For complete ... Chromosome 14 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... "Chromosome 14". Genetics Home Reference. Retrieved 2017-05-06. "Chromosome 14". Human Genome Project Information Archive 1990- ... Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 14". Genet Test. 3 (4): 379-91. ...
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 ... Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 ... "Chromosome 8". Genetics Home Reference. Retrieved 2017-05-06. "Chromosome 8". Human Genome Project Information Archive 1990- ... G-banding ideograms of human chromosome 8 "Human Genome Assembly GRCh38 - Genome Reference Consortium". National Center for ...
Chimpanzee genome project
In the human evolutionary lineage, two ancestral ape chromosomes fused at their telomeres, producing human chromosome 2. There ... Human evolutionary genetics Human chromosome 2 Human Genome Project McConkey EH (2004). "Orthologous numbering of great ape and ... Human and chimpanzee chromosomes are very similar. The primary difference is that humans have one fewer pair of chromosomes ... chromosome segment inversions on human chromosomes 1, 4, 5, 9, 12, 15, 16, 17, and 18. After the completion of the Human genome ...
... on human chromosome 6 has paralogy regions on chromosomes 1, 9 and 19. Much of the human genome seems to be assignable to ... Well-studied sets of paralogy regions include regions of human chromosome 2, 7, 12 and 17 containing Hox gene clusters, ... regions of human chromosomes 4, 5, 8 and 10 containing neuropeptide receptor genes, NK class homeobox genes and many more gene ... and parts of human chromosomes 13, 4, 5 and X containing the ParaHox genes and their neighbors. The Major histocompatibility ...
Human Y-chromosome DNA haplogroup
In human genetics, a human Y-chromosome DNA haplogroup is a haplogroup defined by mutations in the non-recombining portions of ... Y-chromosome DNA (Y-DNA) haplogroups are the major branches on the human paternal family tree. Each haplogroup has many ... 2015, Phylogeographic refinement and large scale genotyping of human Y chromosome haplogroup E provide new insights into the ... Chiaroni, Jacques; Underhill, Peter A.; Cavalli-Sforza, Luca L. (1 December 2009). "Y chromosome diversity, human expansion, ...
"Localization of Shaw-related K+ channel genes on mouse and human chromosomes". Mamm Genome. 4 (12): 711-5. doi:10.1007/ ... Kv3.2 Potassium Channel at the US National Library of Medicine Medical Subject Headings (MeSH) KCNC2 protein, human at the US ... "Human PubMed Reference:". "Mouse PubMed Reference:". Haas M, Ward DC, Lee J, Roses AD, Clarke V, D'Eustachio P, Lau D, Vega- ... 57 (4): 473-508. doi:10.1124/pr.57.4.10. PMID 16382104. Gutman GA, Chandy KG, Grissmer S, Lazdunski M, McKinnon D, Pardo LA, ...
Young M, Chen H, Lalioti MD, Antonarakis SE (May 1996). "The human lanosterol synthase gene maps to chromosome 21q22.3". Human ... "The human lanosterol synthase gene maps to chromosome 21q22.3". Human Genetics. 97 (5): 620-624. doi:10.1007/BF02281872. PMID ... "Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution". Science. 308 (5725): 1149-54. doi:10.1126/science. ... "Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)". Human Genetics. ...
Horikawa I, Barrett JC (2003). "cDNA cloning of the human polybromo-1 gene on chromosome 3p21". DNA Seq. 13 (4): 211-5. doi: ... "The human SWI/SNF-B chromatin-remodeling complex is related to yeast Rsc and localizes at kinetochores of mitotic chromosomes ... Shain, AH; Pollack, JR (2013). "The spectrum of SWI/SNF mutations, ubiquitous in human cancers". PLoS ONE. 8 (1): e55119. doi: ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
... at chromosome 1p36.2-p36.1". Human Molecular Genetics. 1 (1): 65. doi:10.1093/hmg/1.1.65-a. PMID 1339476. Link DC, Gutkind SJ, ... "Isolation of duplicated human c-src genes located on chromosomes 1 and 20". Molecular and Cellular Biology. 5 (4): 831-8. PMC ... Katamine S, Notario V, Rao CD, Miki T, Cheah MS, Tronick SR, Robbins KC (Jan 1988). "Primary structure of the human fgr proto- ... Nishizawa M, Semba K, Yamamoto T, Toyoshima K (Mar 1985). "Human c-f gr gene does not contain coding sequence for actin-like ...
... to human chromosome 12". Mamm Genome. 5 (2): 123-4. doi:10.1007/BF00292343. PMID 8180475. Hart TC, Zhou J, Champagne C, Van ... 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/ ... 1991). "Purification, cDNA-cloning and expression of human diacylglycerol kinase". FEBS Lett. 275 (1-2): 151-8. doi:10.1016/ ...
Chen H, Antonarakis SE (1998). "The SH3D1A gene maps to human chromosome 21q22.1-->q22.2". Cytogenetics and Cell Genetics. 78 ( ... and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1-->q22.2". Cytogenetics ... Pucharcos C, Casas C, Nadal M, Estivill X, de la Luna S (Oct 2001). "The human intersectin genes and their spliced variants are ... European Journal of Human Genetics. 7 (6): 704-12. doi:10.1038/sj.ejhg.5200356. PMID 10482960. Tong XK, Hussain NK, de Heuvel E ...
"The human ATP synthase beta subunit gene: sequence analysis, chromosome assignment, and differential expression". Genomics. 5 ( ... Andersen JS, Lyon CE, Fox AH, Leung AK, Lam YW, Steen H, Mann M, Lamond AI (2002). "Directed proteomic analysis of the human ... Wang ZG, White PS, Ackerman SH (2001). "Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria". J. ... Ohta S, Kagawa Y (1986). "Human F1-ATPase: molecular cloning of cDNA for the beta subunit". J. Biochem. 99 (1): 135-41. PMID ...
1994). "Assignment of the human lens fiber cell MP19 gene (LIM2) to chromosome 19q13.4, and adjacent to ETFB". Somat. Cell Mol ... "Assignment of the lens intrinsic membrane protein MP19 structural gene to human chromosome 19". Curr Eye Res. 11 (5): 421-4. ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... Church RL, Wang JH (1994). "The human lens fiber-cell intrinsic membrane protein MP19 gene: isolation and sequence analysis". ...
"Chromosome mapping of the human ras-related rab3A gene to 19p13.2". Genomics. 5 (4): 694-8. doi:10.1016/0888-7543(89)90110-9. ... "Fluorescence in situ hybridization mapping of human chromosome 19: cytogenetic band location of 540 cosmids and 70 genes or DNA ... Zahraoui A, Touchot N, Chardin P, Tavitian A (1989). "The human Rab genes encode a family of GTP-binding proteins related to ... Sullivan M, Olsen AS, Houslay MD (2000). "Genomic organisation of the human cyclic AMP-specific phosphodiesterase PDE4C gene ...
McHale JC, McKie AB, Tarttelin EE, Inglehearn CF (2000). "Expression map of human chromosome region 17p13.3, spanning the RP13 ... "A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17". Human Molecular Genetics. 3 (6): ... "Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa". ... "Fine localization of the locus for autosomal dominant retinitis pigmentosa on chromosome 17p". American Journal of Human ...
... to human chromosome band 10q25.3". Cytogenetics and Cell Genetics. 88 (3-4): 264-5. doi:10.1159/000015534. PMID 10828605. Duval ... Database, GeneCards Human Gene. "TCF7L2 Gene - GeneCards , TF7L2 Protein , TF7L2 Antibody". www.genecards.org. Retrieved 2017- ... The TCF7L2 gene, encoding the TCF7L2 protein, is located on chromosome 10q25.2-q25.3. The gene contains 19 exons and has ... The TCF7L2 gene is located on chromosome 10q25.2-q25.3, contains 19 exons, and has autosomal dominant inheritance. The TCF7L2 ...
Malate dehydrogenase 2
"Sublocalization of an invasion-inducing locus and other genes on human chromosome 7". Cytogenetics and Cell Genetics. 60 (3-4 ... "Human PubMed Reference:". "Mouse PubMed Reference:". Habets GG, van der Kammen RA, Willemsen V, Balemans M, Wiegant J, Collard ... 19 (4): 744-59. doi:10.1111/jcmm.12388. PMC 4395189 . PMID 25639359. Cascón, A; Comino-Méndez, I; Currás-Freixes, M; de Cubas, ... When both malate and NAD concentrations are high (10 mmol/l and 5 mmol/l, respectively), citrate can actually augment MDH2 ...
... refinement of the human SOX4 location to 6p22.3 and of SOX20 to chromosome 17p12.3". Cytogenet Cell Genet. 81 (3-4): 294-5. doi ... SOX4 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) This article incorporates text from ... Critcher R, Stitson RN, Wade-Martins R, Easty DJ, Farr CJ (October 1998). "Assignment of Sox4 to mouse chromosome 13 bands A3- ... Schepers GE, Teasdale RD, Koopman P (2002). "Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox ...
... refinement of the human SOX4 location to 6p22.3 and of SOX20 to chromosome 17p12.3". Cytogenet Cell Genet. 81 (3-4): 294-5. doi ... Critcher R, Stitson RN, Wade-Martins R, Easty DJ, Farr CJ (Oct 1998). "Assignment of Sox4 to mouse chromosome 13 bands A3-A5 by ... Gozé C, Poulat F, Berta P (1993). "Partial cloning of SOX-11 and SOX-12, two new human SOX genes". Nucleic Acids Res. 21 (12): ... Cremazy F, Soullier S, Berta P, Jay P (1998). "Further complexity of the human SOX gene family revealed by the combined use of ...
"The gene encoding a human natural killer cell granule serine protease, Met-ase 1, maps to chromosome 19p13.3". Immunogenetics. ... 1995). "The human Met-ase gene (GZMM): structure, sequence, and close physical linkage to the serine protease gene cluster on ... Human natural killer (NK) cells and activated lymphocytes express and store a distinct subset of neutral serine proteases ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
... to chromosome 10". Human Molecular Genetics. 5 (10): 1689-92. doi:10.1093/hmg/5.10.1689. PMID 8894709. Di Palma F, Holme RH, ... to chromosome 10q21-22". Human Molecular Genetics. 5 (7): 1061-4. doi:10.1093/hmg/5.7.1061. PMID 8817348. Bonaldo MF, Lennon G ... Human CDH23 genome location and CDH23 gene details page in the UCSC Genome Browser. McHugh RK, Friedman RA (2006). "Genetics of ... The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic ...
"Complementation of repair gene mutations on the hemizygous chromosome 9 in CHO: a third repair gene on human chromosome 19". ... "Fluorescence in situ hybridization mapping of human chromosome 19: cytogenetic band location of 540 cosmids and 70 genes or DNA ... Thompson LH, Brookman KW, Jones NJ, Allen SA, Carrano AV (Dec 1990). "Molecular cloning of the human XRCC1 gene, which corrects ... Human Molecular Genetics. 13 (10): 1081-93. doi:10.1093/hmg/ddh122. PMID 15044383. Marsin S, Vidal AE, Sossou M, Ménissier-de ...
The human IL-11 gene, consisting of 5 exons and 4 introns, is located on chromosome 19, and encodes a 23 kDa protein. IL-11 is ... McKinley D, Wu Q, Yang-Feng T, Yang YC (1992). "Genomic sequence and chromosomal location of human interleukin-11 gene (IL11 ... Mahboubi K, Biedermann BC, Carroll JM, Pober JS (2000). "IL-11 activates human endothelial cells to resist immune-mediated ... 2002). "Interleukin-11 induces proliferation of human T-cells and its activity is associated with downregulation of p27(kip1 ...
... and mapping of Kv3.3 and Kv3.4 to human chromosomes 19 and 1". Genomics. 12 (2): 190-6. doi:10.1016/0888-7543(92)90365-Y. PMID ... "Localization of Shaw-related K+ channel genes on mouse and human chromosomes". Mamm. Genome. 4 (12): 711-5. doi:10.1007/ ... "Human PubMed Reference:". "Mouse PubMed Reference:". Ghanshani S, Pak M, McPherson JD, Strong M, Dethlefs B, Wasmuth JJ, ... "Mapping of Spinocerebellar Ataxia 13 to Chromosome 19q13.3-q13.4 in a Family with Autosomal Dominant Cerebellar Ataxia and ...
2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-71. doi:10.1038/414865a. ... 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/ ... 2002). "Epstein-Barr virus encoded nuclear protein EBNA-3 binds a novel human uridine kinase/uracil phosphoribosyltransferase ...
Structure Cluster - 1HFR: COMPARISON OF TERNARY CRYSTAL COMPLEXES OF HUMAN DIHYDROFOLATE REDUCTASE WITH NADPH AND A...
1HFR: Comparison of ternary crystal complexes of F31 variants of human dihydrofolate reductase with NADPH and a classical antitumor furopyrimidine.
1HFP: Comparison of ternary crystal complexes of F31 variants of human dihydrofolate reductase with NADPH and a classical antitumor furopyrimidine.
Description of disease Acute nonlymphocytic leukemia. Treatment Acute nonlymphocytic leukemia. Symptoms and causes Acute nonlymphocytic leukemia Prophylaxis Acute nonlymphocytic leukemia
Translocation t(12;19)(q13;q13.3). A new recurrent abnormality in acute nonlymphocytic leukemia with atypical erythropoiesis<...
TY - JOUR. T1 - Translocation t(12;19)(q13;q13.3). A new recurrent abnormality in acute nonlymphocytic leukemia with atypical erythropoiesis. AU - Paietta, Elisabeth M.. AU - Papenhausen, Peter. AU - Gucalp, Rasim A.. AU - Wiernik, Peter H.. PY - 1988. Y1 - 1988. N2 - A new reciprocal, apparently balanced translocation between chromosomes 12 and 19, t(12;19)(q13;q13.3), was detected in 5% ( 3 59) of patients with FAB M1 or M2 acute nonlymphocytic leukemia. In either case, this translocation was part of complex but different cytogenetic abnormalities. None of the patients had a significant response to therapy. In one instance, however, the translocation was found at first relapse after 2 years of complete remission, and no information regarding the karyotype at disease onset was available. Hematologically common to these patients were marked marrow erythroid hyperplasia and severely abnormal erythropoiesis despite normal serum B12 and folate levels. A direct association between t(12;19) and these ...
2010 JEEP WRANGLER JK - Rock Krawler 4.5 Inch Stage-1 X Factor Long Arm System - JK45XFLA-2S1 - JK45XFLA-2S1| 4WD.com
The Rock Krawler Wrangler X Factor Long Arm Suspension System design dominates the professional world of rock crawling while still maintaining perfect drivabili
2008 JEEP WRANGLER JK - Rock Krawler 5.5 Inch Stage-1 X Factor Long Arm System - JK55XFLA-4S1 - JK55XFLA-4S1| 4WD.com
The Rock Krawler Wrangler X Factor Long Arm Suspension System design dominates the professional world of rock crawling while still maintaining perfect drivabili
When people hear the word infection, the majority think only about bacteria. Unfortunately, there are many different types of infectious organisms, including protozoal, parasites, and fungi. This week Im sharing some information about a relatively common fungal infection called histoplasmosis. This organism can wreak havoc if not identified and treated promptly so I hope this … [Read more…] ...
Antiemetic Efficacy of High-Dose Dexamethasone in Induction Therapy in Acute Nonlymphocytic Leukemia | Annals of Internal...
Nausea and vomiting continue to be distressing side effects of cancer chemotherapy. We recently reported (1) a randomized, double-blind study in which a single 10-mg dose of intravenous dexamethasone markedly reduced the gastrointestinal side effects of mildly emetogenic chemotherapy for outpatients with breast cancer. We now report the safety and efficacy of repeated doses of dexamethasone in eliminating the nausea and vomiting of induction chemotherapy for patients with acute nonlymphocytic leukemia.. All patients included in the study were adults with acute nonlymphocytic leukemia (at diagnosis or on relapse) at the Hospital of the University of Pennsylvania and were treated with ...
Rett phenotype with X/autosome translocation: possible mapping to the short arm of chromosome X. - Semantic Scholar
Rett syndrome (RS) was diagnosed in a girl with a t(X;22) (p11.22;p11). This translocation was also present in her unaffected mother and her sister affected by a neurological disorder compatible with a forme fruste of RS. Different etiological mechanisms are considered: gene disruption, X inactivation disturbance, metabolic interference. Whatever this may be, the localization of a RS related gene to the short arm of chromosome X is likely.
Retargeting of microcell fusion towards recipient cell-oriented transfer of human artificial chromosome | BMC Biotechnology |...
Human artificial chromosomeMeasles Virus fusogenic proteinChimeric protein. Background. Microcell-mediated chromosome transfer ... Human artificial chromosome (HAC) vector with a conditional centromere for correction of genetic deficiencies in human cells. ... Human artificial chromosome (HAC) vector provides long-term therapeutic transgene expression in normal human primary ... Localization of an hTERT repressor region on human chromosome 3p21.3 using chromosome engineering. Genome Integr. 2010;1(1):6. ...https://bmcbiotechnol.biomedcentral.com/articles/10.1186/s12896-015-0142-z
Chromosome repatterning in three representative parrots (Psittaciformes) inferred from comparative chromosome painting - Kent...
Parrots ( order: Psittaciformes) are the most common captive birds and have attracted human fascination since ancient times ... Our inter-species chromosome painting results unequivocally illustrate the dynamic reshuffling of ancestral chromosomes among ... Chromosome repatterning in three representative parrots (Psittaciformes) inferred from comparative chromosome painting ... Nanda, I. and Karl, E. and Griffin, Darren K. and Schartl, M. and Schmid, Michael (2007) Chromosome repatterning in three ...https://kar.kent.ac.uk/2656/
'chromosomes human 4 5' Protocols and Video...
... submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome ...https://www.jove.com/keyword/chromosomes+human+4+5
Department of Clinical Medicine - Research Output - Keio University
Successful treatment with ponatinib for central nervous system relapse of Philadelphia chromosome-positive B-cell acute ... 5, p. 875-880 6 p.. Research output: Contribution to journal › Letter ... 346-349 4 p.. Research output: Contribution to journal › Letter ... Chromosomes, Human, 4-5 Philadelphia Chromosome Precursor Cell ... 1276-1280 5 p.. Research output: Contribution to journal › Letter ...https://keio.pure.elsevier.com/en/organisations/department-of-clinical-medicine/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontojournal%2Fletter
A centromeric tandem repeat family originating from a part of Ty3/gypsy-retroelement in wheat and its relatives<...
... and B-genome chromosomes of common wheat and rye chromosomes. Although the DNA sequence of this 250-bp repeat showed no notable ... and B-genome chromosomes of common wheat and rye chromosomes. Although the DNA sequence of this 250-bp repeat showed no notable ... and B-genome chromosomes of common wheat and rye chromosomes. Although the DNA sequence of this 250-bp repeat showed no notable ... and B-genome chromosomes of common wheat and rye chromosomes. Although the DNA sequence of this 250-bp repeat showed no notable ...https://okayama.pure.elsevier.com/en/publications/a-centromeric-tandem-repeat-family-originating-from-a-part-of-ty3
Gendoo - Relevant features
Chromosomes, Human, Pair 4 ヒト第4染色体 Genes, Recessive 劣性遺伝子 ...http://gendoo.dbcls.jp/cgi-bin/gendoo.cgi?omimid=208400&taxonomy=human
Gendoo - Relevant features
Chromosomes, Human, 6-12 and X ヒト第6-12およびX染色体 ... Chromosomes, Human, Pair 16 ヒト第16染色体 Chromosomes, Human, 16-18 ... Chromosomes, Human, 6-12 and X ヒト第6-12およびX染色体 ... Chromosomes, Human, 16-18 ヒト第16-18染色体 Aminohttp://gendoo.dbcls.jp/cgi-bin/gendoo.cgi?omimid=141800&taxonomy=human
Find Research Outputs - MD Anderson Cancer Center
Chromosomes, Human, 4-5 Blocking autophagy flux promotes interferon-alpha-mediated apoptosis in head and neck squamous cell ... Wang, W., Ding, Y., Campbell, A., Handy, B. C., Medeiros, L. J. & Lin, P., Apr 1 2019, In : Pathology. 51, 3, p. 340-343 4 p.. ... Jatoi, I., Benson, J. R. & Toi, M., Apr 1 2019, In : Future Oncology. 15, 11, p. 1193-1196 4 p.. Research output: Contribution ... for the German-speaking Myeloma Multicenter Group (GMMG), Jan 1 2019, In : Leukemia. 33, 1, p. 258-261 4 p.. Research output: ...https://mdanderson.elsevierpure.com/en/publications/?format=&page=9
PIP5K1A - Wikipedia
2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. doi:10.1038/nature04727 ... to human chromosome bands 1q22 q24 by in situ hybridization". Cytogenet Cell Genet. 88 (3-4): 197-9. doi:10.1159/000015545. ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173-8. doi:10.1038 ...https://en.wikipedia.org/wiki/PIP5K1A
Genetics and Genomics - Research Output - [email protected]
Assignment of linkage groups to turkey chromosome 1 (MGA1). Reed, K., Sullivan, L. R., Foster, L. K., Chaves, L. D. & Ponce De ... Functional expression of IgA receptor FcαRI on human platelets. Qian, K., Xie, F., Gibson, A. W., Edberg, J. C., Kimberly, R. P ... Characterization of the turkey MHC chromosome through genetic and physical mapping. Chaves, L. D., Krueth, S. B. & Reed, K., ... Recombination is suppressed over a large region of the rainbow trout y chromosome. Phillips, R. B., Dekoning, J. J., Ventura, A ...https://experts.umn.edu/en/organisations/genetics-and-genomics/publications/
RCSB PDB - Protein Feature View - Phosphatidylinositol 4-phosphate 5-kinase type-1 beta - O14986 (PI51B HUMAN)
Chromosome Location * chr9:71320329- 71624092 (+) (NM_001278253) * chr9:71320329- 71624092 (+) (NM_003558) ... 1,2-diacyl-sn-glycero-3-phospho-1D-myo-inositol 4-phosphate + ATP = a 1,2-diacyl-sn-glycero-3-phospho-1D-myo-inositol-4,5- ... Participates in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. Mediates RAC1-dependent reorganization of actin ...http://www.rcsb.org/pdb/protein/O14986
Chromosome 14 (human) - Wikipedia
See also: Category:Genes on human chromosome 14. The following is a partial list of genes on human chromosome 5. For complete ... Chromosome 14 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... "Chromosome 14". Genetics Home Reference. Retrieved 2017-05-06. "Chromosome 14". Human Genome Project Information Archive 1990- ... Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 14". Genet Test. 3 (4): 379-91. ...https://en.wikipedia.org/wiki/Chromosome_14_(human)
Frontiers | Mechanisms underlying the tissue-specific and regulated activity of the Gnrhr promoter in mammals | Endocrinology
This review summarizes results obtained with the mouse, rat, human and ovine promoters either by transient transfection assays ... This review summarizes results obtained with the mouse, rat, human and ovine promoters either by transient transfection assays ... To analyse this facet of the reproductive function, the 5 regulatory sequences of the gene encoding the GnRHR have been ... To analyse this facet of the reproductive function, the 5 regulatory sequences of the gene encoding the GnRHR have been ...https://www.frontiersin.org/articles/10.3389/fendo.2012.00162/full
New Chromosome Research Undermines Human-Chimp Similarity Claims | The Institute for Creation Research
So, the human Y chromosome looks just as different from a chimp as the other human chromosomes do from a chicken. And to ... the human and chimp Y chromosomes were constructed entirely differently. On the human Y chromosome, there were found four major ... Human-Chimp Genetic Similarity: Is the Evolutionary Dogma Valid? * New Human-Chimp Chromosome 2 Data Challenge Common Ancestry ... within the chimpanzee Y chromosome had less than 10 percent similarity with the same class in the human Y chromosome, and vice ...http://www.icr.org/article/5292/
Molecular Genetics of Chronic Pancreatitis
1996) The hereditary pancreatitis gene maps to long arm of chromosome 7. Human Molecular Genetics 5(4): 549-554. ... Human Genetics 123(1): 83-91. Masson E, Le Maréchal C, Chandak GR et al. (2008a) Trypsinogen copy number mutations in patients ... European Journal of Human Genetics 15(9): 936-942. Bruce JI, Yang X, Ferguson CJ et al. (1999) Molecular and functional ... Human Mutation 28(5): 469-476. Király O, Wartmann T and Sahin‐Tóth M (2007b) Missense mutations in pancreatic secretory trypsin ...http://www.els.net/WileyCDA/ElsArticle/refId-a0021481.html
PLCB1 - 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 - Homo sapiens (Human) - PLCB1 gene & protein
4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. ... Human chromosome 20. Human chromosome 20: entries, gene names and cross-references to MIM ... List of human entries with polymorphisms or disease mutations. *Human polymorphisms and disease mutations. Index of human ... "The consensus coding sequences of human breast and colorectal cancers.". Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J. ...https://www.uniprot.org/uniprot/Q9NQ66
PLCB2 - 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 - Homo sapiens (Human) - PLCB2 gene & protein
4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. ... Human chromosome 15. Human chromosome 15: entries, gene names and cross-references to MIM ... List of human entries with polymorphisms or disease mutations. *Human polymorphisms and disease mutations. Index of human ... PLCB2_HUMAN. ,p>This subsection of the Entry information section provides one or more accession number(s). These are stable ...https://www.uniprot.org/uniprot/Q00722
Sequence homology - Wikipedia
... on human chromosome 6 has paralogy regions on chromosomes 1, 9 and 19. Much of the human genome seems to be assignable to ... Each Hox cluster (HoxA, HoxB, etc.) is on a different chromosome. For instance, the human HoxA cluster is on chromosome 7. The ... Homoeologous (also spelled homeologous) chromosomes or parts of chromosomes are those brought together following inter-species ... and parts of human chromosomes 13, 4, 5 and X containing the ParaHox genes and their neighbors. The Major ...https://en.wikipedia.org/wiki/Orthologous_gene
DiVA - Search result
... these results are consistent with two early vertebrate tetraploidizations forming a paralogon comprising human chromosomes 4, 5 ... Among human ERVs (HERVs), the HERV-W group is of particular interest for our physiology and pathology. A HERV-W provirus in ... This chromosome was quadrupled in 2R. Subsequent gene losses resulted in a set of five visual opsin genes, three GNAT and GNAI ... Early vertebrate chromosome duplications and the evolution of the neuropeptide Y receptor gene regions2008In: BMC Evolutionary ...http://uu.diva-portal.org/smash/resultList.jsf?af=%5B%5D&aq=%5B%5B%7B%22journalId%22%3A%221969%22%7D%5D%5D&aqe=%5B%5D&aq2=%5B%5B%5D%5D&language=en&query=
Human Metabolome Database: Showing Protein 3-oxo-5-beta-steroid 4-dehydrogenase (HMDBP00550)
Human chromosome 7: DNA sequence and biology. Science. 2003 May 2;300(5620):767-72. Epub 2003 Apr 10. [PubMed:12690205 ] ... Charbonneau A, The VL: Genomic organization of a human 5beta-reductase and its pseudogene and substrate selectivity of the ... Di Costanzo L, Drury JE, Penning TM, Christianson DW: Crystal structure of human liver Delta4-3-ketosteroid 5beta-reductase ( ... Please upgrade your browser to a newer version to get the best experience on Human Metabolome Database. ...http://www.hmdb.ca/proteins/HMDBP00550
DNAtix Successfully Transferred Craig Venter's Y Chromosome Using IBM Blockchain | GlobeNewswire
1) Venters team used his DNA to generate an assembled diploid human genomic DNA sequencefrom both chromosomes. In the article ... the authors compared Venters sequence to reference human genome sequences to enable the study of human DNA. Transferring the ... With the help of IBMs Hyperledger fabric, DNAtix transferred the chromosome of genome pioneer Craig Venter, an accomplishment ... announced the first successful transfer of a complete chromosome using blockchain technology. ...https://www.ntbinfo.no/pressemelding/dnatix-successfully-transferred-craig-venters-y-chromosome-using-ibm-blockchain?publisherId=4954260&releaseId=17537253
Buckwalter Lab Publications | Buckwalter Lab | Stanford Medicine
Genetic mapping of 21 genes on mouse chromosome 11 reveals disruptions in linkage conservation with human chromosome 5.. ... Localization of the human chromosome 5q genes Gabra-1, Gabrg-2, Il-4, Il-5, and Irf-1 on mouse chromosome 11. Buckwalter MS, ... Lysyl oxidase (Lox) maps between Grl-1 and Adrb-2 on mouse chromosome 18. Lossie AC, Buckwalter MS, Camper SA. Mamm Genome. ... Construction of a 3-Mb contig and partial transcript map of the central region of mouse chromosome 11.. Watkins-Chow DE, ...http://med.stanford.edu/buckwalter-lab/publications.html
Human Metabolome Database: Showing Protein 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1 (HMDBP04455)
Chromosome Location. 3. Locus. 3q25.31. SNPs. PLCH1 Gene Sequence. ,5082 bp ... Please upgrade your browser to a newer version to get the best experience on Human Metabolome Database. ... Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain ... Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [ ...http://www.hmdb.ca/proteins/HMDBP04455
Human-Chimp Genetic Similarity: Is the Evolutionary Dogma Valid? | The Institute for Creation Research
New Human-Chimp Chromosome 2 Data Challenge Common Ancestry Claims. Acts & Facts. 40 (5): 6. ... New Chromosome Research Undermines Human-Chimp Similarity Claims. Acts & Facts. 39 (4): 4-5. ... except for a recent study on the Y chromosome, which was found to be remarkably different from human.7 Once similar data are ... Arent human-chimp genetic comparisons simply a logical extension of a process everyone would accept as valid and factual?" ...https://www.icr.org/article/human-chimp-genetic-similarity-evolutionary/
Frontiers | Genome Scan for Parent-of-Origin QTL Effects on Bovine Growth and Carcass Traits | Genetics
Comparative in-silico analysis of bovine genomic locations show that 32 out of 1,442 known mammalian imprinted genes from human ... chromosome-wide significance level. Six QTL were paternally expressed while 15 were maternally expressed. Three QTL influencing ... Comparative in-silico analysis of bovine genomic locations show that 32 out of 1,442 known mammalian imprinted genes from human ... chromosome-wide significance level. Six QTL were paternally expressed while 15 were maternally expressed. Three QTL influencing ...https://www.frontiersin.org/articles/10.3389/fgene.2011.00044/full
Assembled diploiChimpKaryotypesIntronsSequenceSequencesProteinContributesAutosomesTelomereBiosynthesisMetabolome DatabaseSimilaritiesPartialBile acid intermediatesOrganismProteinsHereditaryDifferencesClassificationGenome projectSimilarityEvolutionHaploidSpeciationComparisonsCommon AncestryFindingsEvolutionaryArticleResultsIndividualStudy
- A recent high-profile article in the journal Nature released the results of a study with implications that shocked the scientific community because they contradict long-held claims of human-chimp DNA similarity. (icr.org)
- Given the fact that the chimpanzee genome is at least 10 percent larger 5 overall than the human genome, this method of assembly was not only biased toward an evolutionary presupposition of human-chimp similarity, but was also inherently flawed. (icr.org)
- Because of the recent outcome comparing the chimp and human Y chromosomes in a more objective assessment, it is possible that major discrepancies will be revealed among the other chromosomes that are claimed to be so similar. (icr.org)
- From a large-scale perspective, the human and chimp Y chromosomes were constructed entirely differently. (icr.org)
- Not only were the locations of DNA categories completely different between human and chimp, but so were their proportions. (icr.org)
- Human-Chimp Genetic Similarity: Is the Evolutionary Dogma Valid? (icr.org)
- To date, at least one major criticism still holds true, pending new research reports: The physical arrangement of chimp DNA sequence is largely based on the human genomic framework, except for a recent study on the Y chromosome, which was found to be remarkably different from human. (icr.org)
- Aren't human-chimp genetic comparisons simply a logical extension of a process everyone would accept as valid and factual? (icr.org)
- Human-Chimp Similarities: Common Ancestry or Flawed Research? (icr.org)
- Evolution Lesson: Comparison of Human and Chimp. (indiana.edu)
- One of the main deficiencies with the original chimpanzee genome sequence published in 2005 3 was that it was a draft sequence and only represented a 3.6-fold random coverage of the 21 chimpanzee autosomes, and a 1.8-fold redundancy of the X and Y sex chromosomes. (icr.org)
- The result is a data set consisting of thousands of random sequencing contigs, or islands of contiguous sequence that need to be oriented and placed in position on their respective chromosomes. (icr.org)
- In the 2005 chimpanzee genome project and resulting Nature journal publication, the sequence contigs 4 were not assembled and oriented based on a map of the chimpanzee genome, but rather on a map of the human genome. (icr.org)
- Before getting into the details of their results, it is important to understand that for the first time, the chimpanzee DNA sequence for a chromosome was assembled and oriented based on a Y chromosome map/framework built for chimpanzee and not human. (icr.org)
- As a result, the chimpanzee DNA sequence could then be more accurately compared to the human Y chromosome because it was standing on its own merit. (icr.org)
- On the human Y chromosome, there were found four major categories of DNA sequence that occupy specific regions. (icr.org)
- Just as a continent like Europe is divided into countries because of different people groups, so are chromosomes with different categories of DNA sequence. (icr.org)
- One sequence class, or category containing DNA with a characteristic sequence, within the chimpanzee Y chromosome had less than 10 percent similarity with the same class in the human Y chromosome, and vice versa. (icr.org)
- In the article, the authors compared Venter's sequence to reference human genome sequences to enable the study of human DNA. (ntbinfo.no)
- Transferring the full sequence of a virus was a challenging project but it is 'a piece of cake' compared to transferring the sequence of a full chromosome," says Ofer A. Lidsky, CEO & CTO and Co-founder of DNAtix . (ntbinfo.no)
- Our next goal is to transfer a full human genome sequence over the blockchain to enable genetic information to be shared in an anonymous and secure way," said Dr. Tal Sines, DNAtix Chief Science Officer and co-founder. (ntbinfo.no)
- DNAtix is the first company to successfully transfer a genetic sequence over the Ethereum Blockchain, and now the first to transfer a complete chromosome. (ntbinfo.no)
- The diploid genome sequence of an individual human. (ntbinfo.no)
- Here we revisit this issue by making use of the available human and chimpanzee genome sequence to study the relationship between chromosomal rearrangements and rates of DNA sequence evolution. (biomedcentral.com)
- To analyze this facet of the reproductive function, the 5′ regulatory sequences of the gene encoding the GnRHR have been isolated and characterized through in vitro and in vivo approaches. (frontiersin.org)
- Divergence between samples of chim-panzee and human DNA sequences is 5%, counting indels. (icr.org)
- The bile acid intermediates 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one and 7-alpha-hydroxy-4-cholesten-3-one can also act as substrates. (hmdb.ca)
- AKR1D1 is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones which carry a delta (4)-3-one structure. (creativebiomart.net)
- It is symbolic that the first chromosome transferred over the blockchain is Venter's as he was one of the key players in the completion of the first human genome ever sequenced as part of the human genome project," added Dr. Sines. (ntbinfo.no)
- When the human genome project was completed in 2003 after 13 years, the costs for sequencing a single genome summed up to US $3B, today full genome sequencing can be completed at the price of approximately US $450 and will soon reach less than US $100. (ntbinfo.no)
- Nothing has turned up in Human Genome Project BLASTNn nor completed nematode genome searches but these too are subject to limitations of the query and progress to date. (mad-cow.org)
- If it were not for subsequent gene loss (variable by chromosome and gene) over the last 420 million years, the haploid mammal or bird would have 4 copies of the prion gene , pufferfish 8 copies, and salmon 16 copies. (mad-cow.org)
- Cell division in the germ cells, eggs and sperm (meiosis), results in the creation of daughter cells with half the number of chromosomes as the original cell (haploid cells). (conservapedia.com)
- These results suggest an association between chromosomal rearrangements and lower non-coding divergence that has not been reported before, even if some chromosomes do not follow this trend and could be potentially associated with a speciation episode. (biomedcentral.com)
- In summary, without excluding it, our results suggest that chromosomal speciation has not been common along the human and chimpanzee lineage. (biomedcentral.com)
- PowerPoint Presentation (Optional): This could make a useful introduction to this lesson, or serve as a quick overview of primate chromosome comparisons. (indiana.edu)
- Optional) A 'Phylogeny' of hominids (formerly called hominoids), based on chromosome comparisons in Yunis' 1982 article. (indiana.edu)