Loading...


Chromosomes: In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Chromosome Banding: Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.X Chromosome: The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Sex Chromosomes: The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)Chromosomes, Human, Pair 1: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Human: Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.Chromosomes, Bacterial: Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosome Segregation: The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.Chromosomes, Human, Pair 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 11: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 17: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 6: A specific pair GROUP C CHROMSOMES of the human chromosome classification.Chromosome Deletion: Actual loss of portion of a chromosome.Chromosomes, Human, Pair 9: A specific pair of GROUP C CHROMSOMES of the human chromosome classification.Chromosomes, Human, Pair 21: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosomes, Plant: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.Chromosomes, Fungal: Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosomes, Human, 6-12 and X: The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.Chromosomes, Human, Pair 2: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Human, Pair 16: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosome Pairing: The alignment of CHROMOSOMES at homologous sequences.Chromosomes, Human, Pair 13: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Mammalian: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.Chromosomes, Human, Pair 4: A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 10: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 19: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 8: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Y: The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.Chromosome Disorders: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)Chromosomes, Artificial, Bacterial: DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.Chromosomes, Human, Pair 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 5: One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).Chromosomes, Human, X: The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.Chromosome Painting: A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.Chromosomes, Human, 1-3: The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.Chromosomes, Human, Pair 15: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Karyotyping: Mapping of the KARYOTYPE of a cell.Chromosomes, Human, Pair 14: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 18: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 20: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.In Situ Hybridization, Fluorescence: A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.Chromosomes, Human, 16-18: The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.Chromosomes, Artificial, Yeast: Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Chromosomes, Human, 13-15: The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.Chromosome Breakage: A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.Chromosomes, Human, 21-22 and Y: The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Ring Chromosomes: Aberrant chromosomes with no ends, i.e., circular.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Chromosome Inversion: An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.Chromosome Positioning: The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.Chromosomes, Human, 4-5: The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.X Chromosome Inactivation: A dosage compensation process occurring at an early embryonic stage in mammalian development whereby, at random, one X CHROMOSOME of the pair is repressed in the somatic cells of females.Centromere: The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.Meiosis: A type of CELL NUCLEUS division, occurring during maturation of the GERM CELLS. Two successive cell nucleus divisions following a single chromosome duplication (S PHASE) result in daughter cells with half the number of CHROMOSOMES as the parent cells.Chromosomes, Insect: Structures within the CELL NUCLEUS of insect cells containing DNA.Translocation, Genetic: A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.Hybrid Cells: Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.Chromosome Structures: Structures which are contained in or part of CHROMOSOMES.Chromosomes, Human, 19-20: The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.Aneuploidy: The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).Metaphase: The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.Mitosis: A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.Recombination, Genetic: Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Microsatellite Repeats: A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).Lod Score: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Crosses, Genetic: Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.Cloning, Molecular: The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.DNA: A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Nucleic Acid Hybridization: Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)Models, Genetic: Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Nondisjunction, Genetic: The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none.Kinetochores: Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.Chromosomes, Artificial, Human: DNA constructs that are composed of, at least, all elements, such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, required for successful replication, propagation to and maintainance in progeny human cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.Telomere: A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.Blotting, Southern: A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Genes: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.Chromosome Walking: A technique with which an unknown region of a chromosome can be explored. It is generally used to isolate a locus of interest for which no probe is available but that is known to be linked to a gene which has been identified and cloned. A fragment containing a known gene is selected and used as a probe to identify other overlapping fragments which contain the same gene. The nucleotide sequences of these fragments can then be characterized. This process continues for the length of the chromosome.Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Chromosomal Proteins, Non-Histone: Nucleoproteins, which in contrast to HISTONES, are acid insoluble. They are involved in chromosomal functions; e.g. they bind selectively to DNA, stimulate transcription resulting in tissue-specific RNA synthesis and undergo specific changes in response to various hormones or phytomitogens.Haplotypes: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.Repetitive Sequences, Nucleic Acid: Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).Spindle Apparatus: A microtubule structure that forms during CELL DIVISION. It consists of two SPINDLE POLES, and sets of MICROTUBULES that may include the astral microtubules, the polar microtubules, and the kinetochore microtubules.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Chromosomal Instability: An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Chromosome Fragility: Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.DNA Probes: Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.Chromosome Duplication: An aberration in which an extra chromosome or a chromosomal segment is made.DNA, Satellite: Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.Diploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.Plasmids: Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Chromatids: Either of the two longitudinally adjacent threads formed when a eukaryotic chromosome replicates prior to mitosis. The chromatids are held together at the centromere. Sister chromatids are derived from the same chromosome. (Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Multigene Family: A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)Genetic Variation: Genotypic differences observed among individuals in a population.DNA-Binding Proteins: Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.Mosaicism: The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.DNA Replication: The process by which a DNA molecule is duplicated.Polyploidy: The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.Abnormalities, MultipleDNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.Polymorphism, Genetic: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.Species Specificity: The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.Sequence Homology, Nucleic Acid: The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.Polytene Chromosomes: Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.Escherichia coli: A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.Nuclear Proteins: Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.Gene Dosage: The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.Prophase: The first phase of cell nucleus division, in which the CHROMOSOMES become visible, the CELL NUCLEUS starts to lose its identity, the SPINDLE APPARATUS appears, and the CENTRIOLES migrate toward opposite poles.Interphase: The interval between two successive CELL DIVISIONS during which the CHROMOSOMES are not individually distinguishable. It is composed of the G phases (G1 PHASE; G0 PHASE; G2 PHASE) and S PHASE (when DNA replication occurs).Cell Cycle Proteins: Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.Saccharomyces cerevisiae: A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.Loss of Heterozygosity: The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.Karyotype: The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)Cosmids: Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Cytogenetic Analysis: Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.Chromatin: The material of CHROMOSOMES. It is a complex of DNA; HISTONES; and nonhistone proteins (CHROMOSOMAL PROTEINS, NON-HISTONE) found within the nucleus of a cell.Cytogenetics: A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.Transcription, Genetic: The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.Genome, Human: The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.Polymorphism, Restriction Fragment Length: Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.Cell Line: Established cell cultures that have the potential to propagate indefinitely.DNA Transposable Elements: Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.DNA Primers: Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Chromosome Fragile Sites: Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.)Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Sequence Tagged Sites: Short tracts of DNA sequence that are used as landmarks in GENOME mapping. In most instances, 200 to 500 base pairs of sequence define a Sequence Tagged Site (STS) that is operationally unique in the human genome (i.e., can be specifically detected by the polymerase chain reaction in the presence of all other genomic sequences). The overwhelming advantage of STSs over mapping landmarks defined in other ways is that the means of testing for the presence of a particular STS can be completely described as information in a database.Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.Spermatocytes: Male germ cells derived from SPERMATOGONIA. The euploid primary spermatocytes undergo MEIOSIS and give rise to the haploid secondary spermatocytes which in turn give rise to SPERMATIDS.Monosomy: The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.Genes, X-Linked: Genes that are located on the X CHROMOSOME.Sex Chromosome Disorders: Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.Sequence Alignment: The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.Cell Nucleus: Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Genes, Bacterial: The functional hereditary units of BACTERIA.Azure Stains: PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.Contig Mapping: Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.DNA Restriction Enzymes: Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.Homozygote: An individual in which both alleles at a given locus are identical.Philadelphia Chromosome: An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE).Chromosome Breakpoints: The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.Gene Duplication: Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Chromosomes, Archaeal: Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.Haploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.Ploidies: The degree of replication of the chromosome set in the karyotype.Genetic Loci: Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.Hybridization, Genetic: The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.Drosophila: A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.Genome, Plant: The genetic complement of a plant (PLANTS) as represented in its DNA.Base Pairing: Pairing of purine and pyrimidine bases by HYDROGEN BONDING in double-stranded DNA or RNA.Gene Amplification: A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.DNA, Fungal: Deoxyribonucleic acid that makes up the genetic material of fungi.Genomic Imprinting: The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)Sex Chromatin: In the interphase nucleus, a condensed mass of chromatin representing an inactivated X chromosome. Each X CHROMOSOME, in excess of one, forms sex chromatin (Barr body) in the mammalian nucleus. (from King & Stansfield, A Dictionary of Genetics, 4th ed)Genes, Lethal: Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.DNA, Neoplasm: DNA present in neoplastic tissue.DNA, Complementary: Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.Histones: Small chromosomal proteins (approx 12-20 kD) possessing an open, unfolded structure and attached to the DNA in cell nuclei by ionic linkages. Classification into the various types (designated histone I, histone II, etc.) is based on the relative amounts of arginine and lysine in each.Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)Microtubules: Slender, cylindrical filaments found in the cytoskeleton of plant and animal cells. They are composed of the protein TUBULIN and are influenced by TUBULIN MODULATORS.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Syndrome: A characteristic symptom complex.Pachytene Stage: The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.DNA, Plant: Deoxyribonucleic acid that makes up the genetic material of plants.Sister Chromatid Exchange: An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME.Bacterial Proteins: Proteins found in any species of bacterium.Chromosomes, Artificial: DNA constructs that are composed of, at least, elements such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, that are required for successful replication, propagation to and maintenance in progeny cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.RNA, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.Gene Library: A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences.Nucleic Acid Conformation: The spatial arrangement of the atoms of a nucleic acid or polynucleotide that results in its characteristic 3-dimensional shape.Introns: Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.Quantitative Trait, Heritable: A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)Triticum: A plant genus of the family POACEAE that is the source of EDIBLE GRAIN. A hybrid with rye (SECALE CEREALE) is called TRITICALE. The seed is ground into FLOUR and used to make BREAD, and is the source of WHEAT GERM AGGLUTININS.Genes, Y-Linked: Genes that are located on the Y CHROMOSOME.Biological Evolution: The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.Euchromatin: Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.Genomic Library: A form of GENE LIBRARY containing the complete DNA sequences present in the genome of a given organism. It contrasts with a cDNA library which contains only sequences utilized in protein coding (lacking introns).Sex Determination Processes: The mechanisms by which the SEX of an individual's GONADS are fixed.

*  Chromosome segregation control by Escherichia coli ObgE GTPase - Foti - 2007 - Molecular Microbiology - Wiley Online Library
Hirano, T. (2005) SMC proteins and chromosome mechanics: from bacteria to humans. Philos Trans R Soc Lond B Biol Sci 360: 507- ... Han, J.S., Kang, S., Lee, H., Kim, H.K., and Hwang, D.S. (2003) Sequential binding of SeqA to paired hemi-methylated GATC ... The defects in chromosome partitioning were accompanied by changes in chromosome organization at oriC and ter, visualized by ... Studies of chromosome organization in bacterial cells show that the chromosome is an exquisitely organized and dynamic ...
  http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2958.2007.05811.x/full
*  Merotelic kinetochore orientation versus chromosome mono-orientation in the origin of lagging chromosomes in human primary...
... that in untreated human primary fibroblasts the frequency of anaphase lagging chromosomes for all the 23 chromosome pairs was ... Merotelic kinetochore orientation versus chromosome mono-orientation in the origin of lagging chromosomes in human primary ... Merotelic kinetochore orientation versus chromosome mono-orientation in the origin of lagging chromosomes in human primary ... Merotelic kinetochore orientation versus chromosome mono-orientation in the origin of lagging chromosomes in human primary ...
  http://jcs.biologists.org/content/115/3/507
*  The region 3′ to Xist mediates X chromosome counting and H3 Lys‐4 dimethylation within the Xist gene | The EMBO Journal
The location of the primer pairs is represented on the small map below the graph. A 5 kb region around the DXPas34 locus, which ... Interestingly, comparative sequence analysis has identified a 2 kb region of mouse/human conservation (80610-82632 of Genbank ... A counting process senses the X chromosome/autosome ratio and ensures that X chromosome inactivation (XCI) initiates in the ... Rastan S, Robertson EJ, Rasmussen TP, Mastrangelo MA, Eden A, Pehrson JR, Jaenisch R (1985) X‐chromosome deletions in embryo‐ ...
  http://emboj.embopress.org/content/23/3/594
*  Errors in chromosome segregation during oogenesis and early embryogenesis - WRAP: Warwick Research Archive Portal
Errors in chromosome segregation occurring during human oogenesis and early embryogenesis are very common. Meiotic chromosome ... The crucial events, including meiotic chromosome pairing and recombination, take place from around 11 weeks until birth. ... New insights into human nondisjunction of chromosome 21 in oocytes. PLoS Genet 2008;4(3):e1000033.. 10. Jones KT. Meiosis in ... Munné S, Cohen J. Chromosome abnormalities in human embryos. Hum Reprod Update 1998a;4(6):842-55.. 42. Munné S, Lee A, ...
  http://wrap.warwick.ac.uk/3796/
*  Chromosome 6 (human) - Wikipedia
The human leukocyte antigen lies on chromosome 6, with the exception of the gene for β2-microglobulin (which is located on ... See also: Category:Genes on human chromosome 6. The following is a partial list of genes on human chromosome 6. For complete ... The following are some of the genes located on p-arm (short arm) of human chromosome 6: ADTRP: encoding protein Androgen- ... October 2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805-11. doi:10.1038/nature02055. PMID ...
  https://en.wikipedia.org/wiki/Chromosome_6_(human)
*  Wellcome Sanger Institute - Wikipedia
The Institute was engaged in collaborations to sequence 8 of the 23 human pairs of chromosomes (1, 6, 9, 10, 13, 20, 22, and X ... "International Human Genome Sequencing Consortium Announces "Working Draft" of Human Genome". National Human Genome Research ... Human Genome Sequencing Consortium (2004). "Finishing the euchromatic sequence of the human genome". Nature. 431 (7011): 931- ... The Institute's research in human genetics focuses on the characterisation of human genetic variation in health and disease. ...
  https://en.wikipedia.org/wiki/Wellcome_Sanger_Institute
*  Cyclin-dependent kinase 6 - Wikipedia
The CDK6 gene is located on chromosome 7 in humans. The gene spans 231,706 base pairs and encodes a 326 amino acid protein with ... CDK6 human gene location in the UCSC Genome Browser. CDK6 human gene details in the UCSC Genome Browser. Molecular and Cellular ... Cheng A, Kaldis P, Solomon MJ (Nov 2000). "Dephosphorylation of human cyclin-dependent kinases by protein phosphatase type 2C ... These features are reached through upregulation of CDK6 due to chromosome alterations or epigenetic dysregulations. ...
  https://en.wikipedia.org/wiki/Cyclin-dependent_kinase_6
*  Chromosome 5 (human) - Wikipedia
Chromosome 5 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 5 ... A ring chromosome occurs when both ends of a broken chromosome are reunited. G-banding ideograms of human chromosome 5 "Human ... See also: Category:Genes on human chromosome 5. The following is a partial list of genes on human chromosome 5. For complete ... Chromosome 5 is the 5th largest human chromosome, yet has one of the lowest gene densities. This is partially explained by ...
  https://en.wikipedia.org/wiki/Chromosome_5_(human)
*  PTCHD4 - Wikipedia
Human PTCHD4 is located on the negative strand of chromosome 6, at 6p12.3. From there, it covers 190,350 base pairs, which ... Check date values in: ,access-date= (help) "The Human Protein Atlas". The Human Protein Atlas. Retrieved 2015. Check date ... "The Human Gene Compendium". Gene Cards. Retrieved 2015. Check date values in: ,access-date= (help) "National Center for ... Sequenced distant orthologs of human PTCHD4 have been found as far back in evolution as mold, which shows a conservation of 16 ...
  https://en.wikipedia.org/wiki/PTCHD4
*  Dictyostelid - Wikipedia
For comparison, the diploid human genome has 20,000-25,000 genes (represented twice) on 23 chromosome pairs. There is a high ... Dictyostelium shares many molecular features with macrophages, the human host of Legionella. The cytoskeletal composition of D ... Tandem repeats of trinucleotides are abundant in Dictyostelium, which in humans cause Trinucleotide repeat disorders. Sexual ... 6 (7): e1001013. doi:10.1371/journal.pgen.1001013. PMC 2895654 . PMID 20617172. O'Day DH, Keszei A (May 2012). "Signalling and ...
  https://en.wikipedia.org/wiki/Dictyostelid
*  TP53-inducible glycolysis and apoptosis regulator - Wikipedia
In humans the TIGAR gene, known as C12orf5, is found on chromosome 12p13-3, and consists of 6 exons. The C12orf5 mRNA is 8237 ... base pairs in length. Jen and Cheung first discovered the c12orf5 gene whilst using computer based searches to find novel p53- ... "NCBI Summary C12orf5 chromosome 12 open reading frame 5". Madan E, Gogna R, Kuppusamy P, Bhatt M, Pati U, Mahdi AA (July 2012 ... The second is found just prior to the first exon, binds p53 with low affinity, and is conserved between mice and humans. TIGAR ...
  https://en.wikipedia.org/wiki/TP53-inducible_glycolysis_and_apoptosis_regulator
*  Chromosome 11 (human) - Wikipedia
Chromosome 11 is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome. Chromosome ... See also: Category:Genes on human chromosome 11. The following is a partial list of genes on human chromosome 11. For complete ... At about 21.5 genes per megabase, chromosome 11 is one of the most gene-rich, and disease-rich, chromosomes in the human genome ... "Chromosome 11". Genetics Home Reference. Retrieved 2017-05-06. "Chromosome 11". Human Genome Project Information Archive 1990- ...
  https://en.wikipedia.org/wiki/Chromosome_11_(human)
*  FKBP6 - Wikipedia
FKBP6 is essential for homologous chromosome pairing in meiosis during spermatogenesis. Targeted inactivation of FKBP6 in mice ... Mutations in this gene have been associated with male infertility in humans. FKBP6 is deleted in Williams syndrome, however ... 2003). "Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis". Science. 300 (5623): 1291-5. ... PDB: 3B7X​; "RCSB Protein Data Bank - Structure Summary for 3B7X - Crystal structure of human FK506-Binding Protein 6". ...
  https://en.wikipedia.org/wiki/FKBP6
*  Chorionic gonadotropin beta - Wikipedia
Policastro P, Ovitt CE, Hoshina M, Fukuoka H, Boothby MR, Boime I (October 1983). "The beta subunit of human chorionic ... Choriogonadotropin subunit beta (CG-beta) also known as chorionic gonadotrophin chain beta is a protein that in humans is ... GRCh38: Ensembl release 89: ENSG00000104827 - Ensembl, May 2017 "Human PubMed Reference:". "Entrez Gene: chorionic gonadotropin ... The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and ...
  https://en.wikipedia.org/wiki/Chorionic_gonadotropin_beta
*  CGB7 - Wikipedia
1984). "The beta chorionic gonadotropin-beta luteinizing gene cluster maps to human chromosome 19". Hum. Genet. 67 (2): 174-7. ... Choriogonadotropin subunit beta is a protein that in humans is encoded by the CGB7 gene. This gene is a member of the ... Fiddes JC, Goodman HM (1980). "The cDNA for the beta-subunit of human chorionic gonadotropin suggests evolution of a gene by ... Morgan FJ, Birken S, Canfield RE (1975). "The amino acid sequence of human chorionic gonadotropin. The alpha subunit and beta ...
  https://en.wikipedia.org/wiki/CGB7
*  PAX7 - Wikipedia
Schäfer BW, Mattei MG (July 1993). "The human paired domain gene PAX7 (Hup1) maps to chromosome 1p35-1p36.2". Genomics. 17 (1 ... Paired box protein Pax-7 is a protein that in humans is encoded by the PAX7 gene. Pax-7 plays a role in neural crest ... Pilz AJ, Povey S, Gruss P, Abbott CM (March 1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... PAX7 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) PAX7 human gene location in the UCSC ...
  https://en.wikipedia.org/wiki/PAX7
*  ENOX2 - Wikipedia
The human ENOX2 gene is located on the long (q) arm of the X chromosome in humans, at region 2 band 6 sub band 1, from base ... pair 130,622,330 to 130,903,317 (build GRCh38.p7) (map). The gene is conserved in chimpanzee, Rhesus monkey, dog, mouse, rat, ... ENOX2 is a gene located on the long arm of the X chromosome in humans. The gene encodes the protein Ecto-NOX disulfide-thiol ... 2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325-37. doi:10.1038/nature03440. PMC 2665286 . PMID ...
  https://en.wikipedia.org/wiki/ENOX2
*  Marta Mirazón Lahr - Wikipedia
"Y-chromosome diversity is inversely associated with language affiliation in paired Austronesian- and Papuan-speaking ... She and Robert Foley were the first to propose a 'southern route' for humans out of Africa, and for human diversity to be the ... Lahr's research is in human evolution, and ranges across human and hominin morphology, prehistory and genetics. Her early work ... Lahr, M. M. & Foley, R. (1998). "Towards a theory of modern human origins: Geography, demography, and diversity in recent human ...
  https://en.wikipedia.org/wiki/Marta_Miraz%C3%B3n_Lahr
*  BHLHE41 - Wikipedia
BHLHE41 was mapped to human chromosome 12: 26,120,026-26-125-127 reverse strand and has a total length of 5,101 base pairs. The ... "Human PubMed Reference:". "Mouse PubMed Reference:". "BHLHE41 basic helix-loop-helix family, member e41 [ Homo sapiens (human ... Human BHLHE41 genome location and BHLHE41 gene details page in the UCSC Genome Browser. This article incorporates text from the ... Kurien PA, Chong SY, Ptáček LJ, Fu YH (October 2013). "Sick and tired: how molecular regulators of human sleep schedules and ...
  https://en.wikipedia.org/wiki/BHLHE41
*  Nocardia farcinica - Wikipedia
The chromosome encodes 5,674 potential protein-coding open reading frames. This genome may have undergone numerous gene ... Strains of this species have been isolated from human brain abscesses. N. farcinica contains a 6 million base pair genome with ... Holm, P (July 1975). "Seven cases of human nocardiosis caused by Nocardia farcinica". Sabouraudia. 13 (2): 161-9. doi:10.1080/ ...
  https://en.wikipedia.org/wiki/Nocardia_farcinica
*  PAX1 - Wikipedia
... a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in situ ... Paired box protein Pax-1 is a protein that in humans is encoded by the PAX1 gene. This gene is a member of the paired box (PAX ... 1989). "Conservation of the paired domain in metazoans and its structure in three isolated human genes". EMBO J. 8 (4): 1183-90 ... 2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-71. doi:10.1038/414865a. ...
  https://en.wikipedia.org/wiki/PAX1
*  Laboratory mouse - Wikipedia
This was only the second mammalian genome to be sequenced after humans. The haploid genome is about three billion base pairs ... long (3,000 Mb distributed over 20 chromosomes), therefore equal to the size of the human genome. Estimating the number of ... "Human assembly and gene annotation". Ensembl. Retrieved 29 July 2013. "JAX Mice Database - 002983 MRL.CBAJms-Fas/J". Jaxmice. ... compared to an estimated 20,774 in humans. Various mutant strains of mice have been created by a number of methods. A small ...
  https://en.wikipedia.org/wiki/Laboratory_mouse
*  RAGE (receptor) - Wikipedia
The human RAGE gene lies within the major histocompatibility complex (MHC) class III region on chromosome 6 and comprises 11 ... Total length of the gene is about 1400 base pairs (bp) including the promoter region, which partly overlaps with the PBX2 gene ... About 30 polymorphisms are known most of which are single nucleotide polymorphisms (SNP). The primary transcript of the human ... "Human PubMed Reference:". "Mouse PubMed Reference:". Neeper M, Schmidt AM, Brett J, Yan SD, Wang F, Pan YC, Elliston K, Stern D ...
  https://en.wikipedia.org/wiki/RAGE_(receptor)
*  Artificial gene synthesis - Wikipedia
It required designing and creating 273,871 base pairs of DNA - fewer than the 316,667 pairs in the original chromosome. In ... The procedure involved replacing the genes in the original chromosome with synthetic versions and the finished human made ... The method has been used to generate functional bacterial or yeast chromosomes containing approximately one million base pairs ... Recent research also suggests the possibility of creating novel nucleobase pairs in addition to the two base pairs in nature, ...
  https://en.wikipedia.org/wiki/Artificial_gene_synthesis
*  C6orf201 - Wikipedia
In humans, the gene is 51,558 base pairs long. The transcript that produces the longest protein of 140 amino acids is ... "GeneCards: The Human Gene Compendium". Retrieved 8 February 2015. "Homo sapiens chromosome 6 open reading frame 201 (C6orf201) ... "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805-11. doi:10.1038/nature02055. PMID 14574404. "EST ... is a protein that in humans is encoded by the C6orf201 gene. In humans this gene encodes for a nuclear protein that is ...
  https://en.wikipedia.org/wiki/C6orf201

Premature chromosome condensation: Premature chromosome condensation (PCC) occurs in eukaryotic organisms when mitotic cells fuse with interphase cells. Chromatin, a substance that contains genetic material such as DNA, is normally found in a loose bundle inside a cell's nucleus.Chromosome regionsSmith–Fineman–Myers syndrome: Smith–Fineman–Myers syndrome (SFMS1), also called X-linked mental retardation-hypotonic facies syndrome 1 (MRXHF1), Carpenter–Waziri syndrome, Chudley–Lowry syndrome, SFMS, Holmes–Gang syndrome and Juberg–Marsidi syndrome (JMS), is a rare X-linked recessive congenital disorder that causes birth defects. This syndrome was named after 3 men, Richard D.Genetic imbalance: Genetic imbalance is to describe situation when the genome of a cell or organism has more copies of some genes than other genes due to chromosomal rearrangements or aneuploidy.Circular bacterial chromosome: A circular bacterial chromosome is a bacterial chromosome in the form of a molecule of circular DNA. Unlike the linear DNA of most eukaryotes, typical bacterial chromosomes are circular.Immortal DNA strand hypothesis: The immortal DNA strand hypothesis was proposed in 1975 by John Cairns as a mechanism for adult stem cells to minimize mutations in their genomes.Cairns, J.Transient neonatal diabetes mellitusGenetic linkage: Genetic linkage is the tendency of alleles that are located close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction. Genes whose loci are nearer to each other are less likely to be separated onto different chromatids during chromosomal crossover, and are therefore said to be genetically linked.Coles PhillipsSymmetry element: A symmetry element is a point of reference about which symmetry operations can take place. In particular, symmetry elements can be centers of inversion, axes of rotation and mirror planes.Ring chromosome: A ring chromosome is a chromosome whose arms have fused together to form a ring. Ring chromosomes were first discovered by Lilian Vaughan Morgan in 1926.John Payne ToddCentromereOncogene: An oncogene is a gene that has the potential to cause cancer.Wilbur, Beth, editor.CP 55,940Metaphase: Metaphase (from the Greek μετά, "adjacent" and φάσις, "stage") is a stage of mitosis in the eukaryotic cell cycle in which chromosomes are at their second-most condensed and coiled stage (they are at their most condensed in anaphase. These chromosomes, carrying genetic information, align in the equator of the cell before being separated into each of the two daughter cells.Bookmarking: Bookmarking (also "gene bookmarking" or "mitotic bookmarking") refers to a potential mechanism of transmission of gene expression programs through cell division.Recombination (cosmology): In cosmology, recombination refers to the epoch at which charged electrons and protons first became bound to form electrically neutral hydrogen atoms.Note that the term recombination is a misnomer, considering that it represents the first time that electrically neutral hydrogen formed.Silent mutation: Silent mutations are mutations in DNA that do not significantly alter the phenotype of the organism in which they occur. Silent mutations can occur in non-coding regions (outside of genes or within introns), or they may occur within exons.Microsatellite: A microsatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from 2–5 base pairs) are repeated, typically 5-50 times. Microsatellites occur at thousands of locations in the human genome and they are notable for their high mutation rate and high diversity in the population.Pedigree chart: A pedigree chart is a diagram that shows the occurrence and appearance or phenotypes of a particular gene or organism and its ancestors from one generation to the next,pedigree chart Genealogy Glossary - About.com, a part of The New York Times Company.Ligation-independent cloning: Ligation-independent cloning (LIC) is a form of molecular cloning that is able to be performed without the use of restriction endonucleases or DNA ligase. This allows genes that have restriction sites to be cloned without worry of chopping up the insert.Phenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.DNA condensation: DNA condensation refers to the process of compacting DNA molecules in vitro or in vivo. Mechanistic details of DNA packing are essential for its functioning in the process of gene regulation in living systems.Infinite alleles model: The infinite alleles model is a mathematical model for calculating genetic mutations. The Japanese geneticist Motoo Kimura and American geneticist James F.Protein primary structure: The primary structure of a peptide or protein is the linear sequence of its amino acid structural units, and partly comprises its overall biomolecular structure. By convention, the primary structure of a protein is reported starting from the amino-terminal (N) end to the carboxyl-terminal (C) end.Trisomy 9DNA sequencer: A DNA sequencer is a scientific instrument used to automate the DNA sequencing process. Given a sample of DNA, a DNA sequencer is used to determine the order of the four bases: G (guanine), C (cytosine), A (adenine) and T (thymine).Kinetochore: The kinetochore is the protein structure on chromatids where the spindle fibers attach during cell division to pull sister chromatids apart.Telomere: A telomere is a region of repetitive nucleotide sequences at each end of a chromosome, which protects the end of the chromosome from deterioration or from fusion with neighboring chromosomes. Its name is derived from the Greek nouns telos (τέλος) 'end' and merοs (μέρος, root: μερ-) 'part.Ogre (2008 film): Ogre is a 2008 American television horror film directed by Steven R. Monroe.Thermal cyclerChromo shadow domain: In molecular biology, the chromo shadow domain is a protein domain which is distantly related to the chromodomain. It is always found in association with a chromodomain.Direct repeat: Direct repeats are a type of genetic sequence that consists of two or more repeats of a specific sequence.Spindle apparatus: In cell biology, the spindle apparatus refers to the subcellular structure of eukaryotic cells that separates chromosomes between daughter cells during cell division. It is also referred to as the mitotic spindle during mitosis, a process that produces genetically identical daughter cells, or the meiotic spindle during meiosis, a process that produces gametes with half the number of chromosomes of the parent cell.Molecular evolution: Molecular evolution is a change in the sequence composition of cellular molecules such as DNA, RNA, and proteins across generations. The field of molecular evolution uses principles of evolutionary biology and population genetics to explain patterns in these changes.

(1/1138) UCP4, a novel brain-specific mitochondrial protein that reduces membrane potential in mammalian cells.

Uncoupling proteins (UCPs) are a family of mitochondrial transporter proteins that have been implicated in thermoregulatory heat production and maintenance of the basal metabolic rate. We have identified and partially characterized a novel member of the human uncoupling protein family, termed uncoupling protein-4 (UCP4). Protein sequence analyses showed that UCP4 is most related to UCP3 and possesses features characteristic of mitochondrial transporter proteins. Unlike other known UCPs, UCP4 transcripts are exclusively expressed in both fetal and adult brain tissues. UCP4 maps to human chromosome 6p11.2-q12. Consistent with its potential role as an uncoupling protein, UCP4 is localized to the mitochondria and its ectopic expression in mammalian cells reduces mitochondrial membrane potential. These findings suggest that UCP4 may be involved in thermoregulatory heat production and metabolism in the brain.  (+info)

(2/1138) NKp44, a triggering receptor involved in tumor cell lysis by activated human natural killer cells, is a novel member of the immunoglobulin superfamily.

Surface receptors involved in natural killer (NK) cell triggering during the process of tumor cell lysis have recently been identified. Of these receptors, NKp44 is selectively expressed by IL-2- activated NK cells and may contribute to the increased efficiency of activated NK cells to mediate tumor cell lysis. Here we describe the molecular cloning of NKp44. Analysis of the cloned cDNA indicated that NKp44 is a novel transmembrane glycoprotein belonging to the Immunoglobulin superfamily characterized by a single extracellular V-type domain. The charged amino acid lysine in the transmembrane region may be involved in the association of NKp44 with the signal transducing molecule killer activating receptor-associated polypeptide (KARAP)/DAP12. These molecules were found to be crucial for the surface expression of NKp44. In agreement with data of NKp44 surface expression, the NKp44 transcripts were strictly confined to activated NK cells and to a minor subset of TCR-gamma/delta+ T lymphocytes. Unlike genes coding for other receptors involved in NK cell triggering or inhibition, the NKp44 gene is on human chromosome 6.  (+info)

(3/1138) The predisposition to type 1 diabetes linked to the human leukocyte antigen complex includes at least one non-class II gene.

The human leukocyte antigen (HLA) complex, encompassing 3.5 Mb of DNA from the centromeric HLA-DPB2 locus to the telomeric HLA-F locus on chromosome 6p21, encodes a major part of the genetic predisposition to develop type 1 diabetes, designated "IDDM1." A primary role for allelic variation of the class II HLA-DRB1, HLA-DQA1, and HLA-DQB1 loci has been established. However, studies of animals and humans have indicated that other, unmapped, major histocompatibility complex (MHC)-linked genes are participating in IDDM1. The strong linkage disequilibrium between genes in this complex makes mapping a difficult task. In the present paper, we report on the approach we have devised to circumvent the confounding effects of disequilibrium between class II alleles and alleles at other MHC loci. We have scanned 12 Mb of the MHC and flanking chromosome regions with microsatellite polymorphisms and analyzed the transmission of these marker alleles to diabetic probands from parents who were homozygous for the alleles of the HLA-DRB1, HLA-DQA1, and HLA-DQB1 genes. Our analysis, using three independent family sets, suggests the presence of an additional type I diabetes gene (or genes). This approach is useful for the analysis of other loci linked to common diseases, to verify if a candidate polymorphism can explain all of the association of a region or if the association is due to two or more loci in linkage disequilibrium with each other.  (+info)

(4/1138) Murine p38-delta mitogen-activated protein kinase, a developmentally regulated protein kinase that is activated by stress and proinflammatory cytokines.

The p38 mitogen-activated protein kinases (MAPK) play a crucial role in stress and inflammatory responses and are also involved in activation of the human immunodeficiency virus gene expression. We have isolated the murine cDNA clones encoding p38-delta MAPK, and we have localized the p38-delta gene to mouse chromosome 17A3-B and human chromosome 6p21.3. By using Northern and in situ hybridization, we have examined the expression of p38-delta in the mouse adult tissues and embryos. p38-delta was expressed primarily in the lung, testis, kidney, and gut epithelium in the adult tissues. Although p38-delta was expressed predominantly in the developing gut and the septum transversum in the mouse embryo at 9.5 days, its expression began to be expanded to many specific tissues in the 12.5-day embryo. At 15.5 days, p38-delta was expressed virtually in most developing epithelia in embryos, suggesting that p38-delta is a developmentally regulated MAPK. Interestingly, p38-delta and p38-alpha were similar serine/threonine kinases but differed in substrate specificity. Overall, p38-delta resembles p38-gamma, whereas p38-beta resembles p38-alpha. Moreover, p38-delta is activated by environmental stress, extracellular stimulants, and MAPK kinase-3, -4, -6, and -7, suggesting that p38-delta is a unique stress-responsive protein kinase.  (+info)

(5/1138) A genome search identifies major quantitative trait loci on human chromosomes 3 and 4 that influence cholesterol concentrations in small LDL particles.

Small, dense LDL particles are associated with increased risk of cardiovascular disease. To identify the genes that influence LDL size variation, we performed a genome-wide screen for cholesterol concentrations in 4 LDL size fractions. Samples from 470 members of randomly ascertained families were typed for 331 microsatellite markers spaced at approximately 15 cM intervals. Plasma LDLs were resolved by using nondenaturing gradient gel electrophoresis into 4 fraction sizes (LDL-1, 26.4 to 29.0 nm; LDL-2, 25.5 to 26.4 nm; LDL-3, 24.2 to 25.5 nm; and LDL-4, 21.0 to 24.2 nm) and cholesterol concentrations were estimated by staining with Sudan Black B. Linkage analyses used variance component methods that exploited all of the genotypic and phenotypic information in the large extended pedigrees. In multipoint linkage analyses with quantitative trait loci for the 4 fraction sizes, only LDL-3, a fraction containing small LDL particles, gave peak multipoint log10 odds in favor of linkage (LOD) scores that exceeded 3.0, a nominal criterion for evidence of significant linkage. The highest LOD scores for LDL-3 were found on chromosomes 3 (LOD=4.1), 4 (LOD=4.1), and 6 (LOD=2.9). In oligogenic analyses, the 2-locus LOD score (for chromosomes 3 and 4) increased significantly (P=0.0012) to 6.1, but including the third locus on chromosome 6 did not significantly improve the LOD score (P=0.064). Thus, we have localized 2 major quantitative trait loci that influence variation in cholesterol concentrations of small LDL particles. The 2 quantitative trait loci on chromosomes 3 and 4 are located in regions that contain the genes for apoD and the large subunit of the microsomal triglyceride transfer protein, respectively.  (+info)

(6/1138) Linkage of Crohn's disease to the major histocompatibility complex region is detected by multiple non-parametric analyses.

BACKGROUND: There is evidence for genetic susceptibility to Crohn's disease, and a tentative association with tumour necrosis factor (TNF) and HLA class II alleles. AIMS: To examine the potential of genetic linkage between Crohn's disease and the MHC region on chromosome 6p. METHODS: TNF microsatellite markers and, for some families, additional HLA antigens were typed for 323 individuals from 49 Crohn's disease multiplex families to generate informative haplotypes. Non-parametric linkage analysis methods, including sib pair and affected relative pair methods, were used. RESULTS: Increased sharing of haplotypes was observed in affected sib pairs: 92% (48/52) shared one or two haplotypes versus an expected 75% if linkage did not exist (p=0.004). After other affected relative pairs were included, the significance level reached 0.001. The mean proportion of haplotype sharing was increased for both concordant affected (pi=0.60, p=0.002) and unaffected sib pairs (pi=0.58, p=0. 031) compared with the expected value (pi=0.5). In contrast, sharing in discordant sib pairs was significantly decreased (pi=0.42, p=0. 007). Linear regression analysis using all three types of sib pairs yielded a slope of -0.38 at p=0.00003. It seemed that the HLA effect was stronger in non-Jewish families than in Jewish families. CONCLUSIONS: All available analytical methods support linkage of Crohn's disease to the MHC region in these Crohn's disease families. This region is estimated to contribute approximately 10-33% of the total genetic risk to Crohn's disease.  (+info)

(7/1138) Genetic linkage of IgA deficiency to the major histocompatibility complex: evidence for allele segregation distortion, parent-of-origin penetrance differences, and the role of anti-IgA antibodies in disease predisposition.

Immunoglobulin A (IgA) deficiency (IgAD) is characterized by a defect of terminal lymphocyte differentiation, leading to a lack of IgA in serum and mucosal secretions. Familial clustering, variable population prevalence in different ethnic groups, and a predominant inheritance pattern suggest a strong genetic predisposition to IgAD. The genetic susceptibility to IgAD is shared with a less prevalent, but more profound, defect called "common variable immunodeficiency" (CVID). Here we show an increased allele sharing at 6p21 in affected members of 83 multiplex IgAD/CVID pedigrees and demonstrate, using transmission/diseqilibrium tests, family-based associations indicating the presence of a predisposing locus, designated "IGAD1," in the proximal part of the major histocompatibility complex (MHC). The recurrence risk of IgAD was found to depend on the sex of parents transmitting the defect: affected mothers were more likely to produce offspring with IgAD than were affected fathers. Carrier mothers but not carrier fathers transmitted IGAD1 alleles more frequently to the affected offspring than would be expected under random segregation. The differential parent-of-origin penetrance is proposed to reflect a maternal effect mediated by the production of anti-IgA antibodies tentatively linked to IGAD1. This is supported by higher frequency of anti-IgA-positive females transmitting the disorder to children, in comparison with female IgAD nontransmitters, and by linkage data in the former group. Such pathogenic mechanisms may be shared by other MHC-linked complex traits associated with the production of specific autoantibodies, parental effects, and a particular MHC haplotype.  (+info)

(8/1138) Suppression of tumorigenicity in human ovarian cancer cell lines is controlled by a 2 cM fragment in chromosomal region 6q24-q25.

Multiple distinct regions of chromosome 6 are frequently affected by losses of heterozygosity in primary human ovarian carcinomas. We introduced a normal human chromosome 6 into HEY and SKOV-3 ovarian carcinoma cell lines using microcell-mediated chromosome transfer techniques to further investigate the role of this chromosome in ovarian tumorigenesis. The exogenous chromosome was stably propagated in the recipient cells based on fluorescence in situ hybridization (FISH) analyses with a chromosome 6 painting probe. The tumorigenicity of HEY and SKOV-3 cells was completely suppressed after transfer of chromosome 6, but not after transfer of a chromosome 11q13-qter fragment used as control. Using 46 polymorphic microsatellite markers, the region bounded by D6S1649 and D6S1564 was found to be commonly deleted in HEY: chromosome 6 tumorigenic revertant clones. The boundaries of the commonly deleted region could be further narrowed down to a 2 cM (based on the Whitehead genetic map) or 0.36 megabase (based on gdb mapping data) region between D6S1637 and D6S1564 after transferring the exogenous chromosome from revertants into mouse L cells and performing allelic deletion mapping studies against this mouse background. We conclude that this region contains a tumor suppressor gene important for the control of ovarian tumor development.  (+info)


  • genotype
  • We previously reported genome-wide significant evidence for linkage between chromosome 6q and bipolar I disorder (BPI) by performing a meta-analysis of original genotype data from 11 genome scan linkage studies. (ox.ac.uk)
  • cells
  • Similar effects were also seen on cloning efficiency and anchorage-independent growth of cells expressing RNaseT2 (Figs 6 and 7). (nih.gov)
  • Large-scale systematic screens are used to discover the impact of naturally occurring and engineered genome mutations in human induced pluripotent cells (hIPSCs), their differentiated derivatives and other cell types. (wikipedia.org)
  • G6PD deficiency is the lack of glucose-6-phosphate dehydrogenase (an enzyme present in red blood cells) in the blood, which can cause a type of anemia known as hemolytic anemia. (nyhq.org)
  • TIGAR is a recently discovered enzyme that primarily functions as a regulator of glucose breakdown in human cells. (wikipedia.org)
  • Genomics
  • Her subsequent research continues to explore human diversity from a number of different perspectives and methodological approaches, and includes archaeology, palaeobiology, genomics and human biology. (wikipedia.org)
  • locus
  • Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. (forskningsdatabasen.dk)
  • enzyme
  • The TP53-inducible glycolysis and apoptosis regulator (TIGAR) also known as fructose-2,6-bisphosphatase TIGAR is an enzyme that in humans is encoded by the C12orf5 gene. (wikipedia.org)
  • TIGAR has an active site that is structurally similar to that of PhoE (a bacterial phosphatase enzyme) and functionally similar to that of fructose-2,6-bisphosphatase. (wikipedia.org)
  • Mice
  • The second is found just prior to the first exon, binds p53 with low affinity, and is conserved between mice and humans. (wikipedia.org)
  • Although the exact mechanisms of action are still unknown, previous studies suggest that the mutation poses similar effects in both humans and mice. (wikipedia.org)
  • C6orf201 is primarily expressed in the testis of humans and is also expressed in the testis of adult mice and rats. (wikipedia.org)
  • Mice belong to the Euarchontoglires clade, which includes humans. (wikipedia.org)
  • This close relationship, the associated high homology with humans, their ease of maintenance and handling, and their high reproduction rate, make mice particularly suitable models for human-oriented research. (wikipedia.org)
  • Mice are mammals of the Glires clade ( a group consisting of an ancestor and all its descendants), which means they are amongst the closest relatives of humans along with lagomorphs, treeshrews, flying lemurs and other primates. (wikipedia.org)
  • primarily
  • A panel of 63 radiation-reduced hybrids has been derived from a mouse cell line containing a neo-marked human Chromosome (Chr) 6, primarily to provide a resource for higher resolution localization of new markers. (openrepository.com)
  • region
  • This region contains the glutamate receptor 6 (GluR6 or GRIK2) gene, a functional candidate for the syndrome. (pubmedcentralcanada.ca)
  • 6q24-related transient neonatal diabetes mellitus, a type of diabetes that occurs in infants, is caused by the overactivity (overexpression) of certain genes in a region of the long (q) arm of chromosome 6 called 6q24. (nih.gov)
  • Another 40 percent of cases of 6q24-related transient neonatal diabetes mellitus occur when the copy of chromosome 6 that comes from the father has a duplication of genetic material including the paternally expressed imprinted genes in the 6q24 region. (nih.gov)
  • The HLA region on chromosome 6 is gene-rich and under selective pressure because of the high proportion of immunity-related genes. (ox.ac.uk)
  • Amplified region of chromosome band 11q13 in breast and squamous cell carcinomas encompasses three CpG islands telomeric of FGF3, including the expressed gene EMS1. (naver.com)
  • cell
  • We present here the phenotypic effects of the ectopic expression of RNaseT2, a highly conserved ribonuclease encoded by chromosome 6q27, in SV40 immortalized cell lines. (nih.gov)
  • Chromosome 12-containing markers, including two dicentrics, in three i(12p)-negative testicular germ cell tumors. (naver.com)
  • In addition, we identified by Southern blotting and PCR of DNA from somatic human x hamster hybrid cell lines homologues of cluster-4/CD24 on the Y chromosome and chromosome 15. (ox.ac.uk)
  • Explores human gene function by studying the impact of genome variation on cell biology. (wikipedia.org)
  • It is one of the founder programmes driving the creation and organisation of the international Human Cell Atlas initiative. (wikipedia.org)
  • Because chromosome 5 is responsible for many forms of growth and development (cell divisions) changes may cause cancers. (wikipedia.org)
  • TIGAR acts as a direct regulator of fructose-2,6-bisphosphate levels and hexokinase 2 activity, and this can lead indirectly to many changes within the cell in a chain of biochemical events. (wikipedia.org)
  • The cancer associated, drug responsive variant of ENOX, tNOX, arises as a splice variant and is found on the cell surface of human cancers. (wikipedia.org)
  • regulator
  • It catalyses the removal of a phosphate group from fructose-2,6-bisphosphate (F-2,6-BP): Fructose-2,6-Bisphosphate->Fructose-6-phosphate (F-6-P) + phosphate F-2,6-BP is an allosteric regulator of cellular glucose metabolism pathways. (wikipedia.org)
  • amino acid
  • There is a known amino acid point mutation of DEC2/BHLHE41 that affects the regulation of the biological processes of sleep timing and duration in humans. (wikipedia.org)
  • sequence
  • It was conceived as a large scale DNA sequencing centre to participate in the Human Genome Project, and went on to make the largest single contribution to the gold standard sequence of the human genome. (wikipedia.org)
  • Species
  • The advances in technology allow the Sanger Institute to carry out sequencing of the genomes of individual humans, vertebrate species and pathogens, at an ever-increasing pace and reducing cost. (wikipedia.org)
  • mechanism
  • The mechanism by which specific regions of the chromosome are organized and segregated prior to division remains a mystery. (wiley.com)
  • The selected Xi becomes the target of a chromosome‐wide mechanism of transcriptional silencing, which constitutes an exciting paradigm for epigenetic regulations and confirms interest in the molecular dissection of the X‐inactivation centre ( Xic ), a locus on the X chromosome that contains the Xist gene and the elements involved in counting, choice and silencing. (embopress.org)
  • long
  • Human T-cell leukemia virus type I (HTLV-I) causes adult T-cell leukemia (ATL) after a long latent period. (biomedcentral.com)
  • It has rigid, strap-like, linear, greyish-green leaves, which are 15-23 cm (6-9 in) long and 2-3mm wide, (at flowering time). (wikipedia.org)
  • It has 3 pointed (acuminate), green, between 7-14 cm (3-6 in) long and 1.8-2 cm wide, spathes (leaves of the flower bud). (wikipedia.org)
  • It has a 4-6 cm (2-2 in) long perianth tube, 4.5 cm long pedicel, 2.5 cm long ovary and 2.5 cm long stamens. (wikipedia.org)
  • C3orf62 human protein (Q6ZUJ4) is 267 amino acids long, and has a molecular mass of 30,194 Daltons. (wikipedia.org)
  • exons
  • When inserted near or in exons, SINEs can cause improper splicing, become coding regions, or change the reading frame, often leading to disease phenotypes in humans and other animals. (wikipedia.org)
  • single
  • It is important to know if the sequencing experiment was single-end or paired-end, as the alignment software will require the user to specify both FASTQ files for a paired-end experiment. (bioconductor.org)
  • some single cell organisms have much more DNA than humans (see Junk DNA and C-value enigma). (wikipedia.org)
  • Within 100 generations in humans (about 2100 years in ancient times) one expects a few hundred of these 'blending' events to have occurred across a single chromosome, the average size is 1 centiMorgan (or 1 cM). (wikipedia.org)
  • Multiplex ligation-dependent probe amplification (MLPA) is a variation of the multiplex polymerase chain reaction that permits amplification of multiple targets with only a single primer pair. (wikipedia.org)
  • MLPA facilitates the amplification and detection of multiple targets with a single primer pair. (wikipedia.org)
  • Thus, many sequences (up to 40) can be amplified and quantified using just a single primer pair. (wikipedia.org)
  • various
  • The various tarantula hawk wasps are of a similar size and can overpower a spider many times its own weight, and move it to its burrow, with a sting that is excruciatingly painful to humans. (wikipedia.org)
  • For example, probes may be designed to target various regions of chromosome 21 of a human cell. (wikipedia.org)
  • different
  • Human ALECT2 has several different transcriptional initiation sights and codes for a mRNA composed of 1,000 to 1,300 ribonucleotides. (wikipedia.org)
  • species
  • In most species, including humans, mtDNA is inherited solely from the mother. (wikipedia.org)
  • It is not threatened with extinction, but human activities, such as hunting, habitat destruction, and the introduction of foreign predatory species and parasites, have reduced its distribution in Australia. (wikipedia.org)
  • probe
  • If a and b are the signals from two amplicons in the patient sample, and A and B are the corresponding amplicons in the experimental control, then the dosage quotient DQ = (a/b) / (A/B). Although dosage quotients may be calculated for any pair of amplicons, it is usually the case that one of the pair is an internal reference probe. (wikipedia.org)
  • Fluorescence microscopy can be used to find out where the fluorescent probe is bound to the chromosomes. (wikipedia.org)
  • Each probe for the detection of mRNA and lncRNA is composed of 20 oligonucleotide pairs, each pair covering a space of 40-50 bp. (wikipedia.org)
  • A target-specific probe, composed of 20 oligonucleotide pairs, hybridizes to the target RNA(s). (wikipedia.org)
  • regions
  • This is usually accomplished on human mitochondrial DNA by sequencing the hypervariable control regions (HVR1 or HVR2), and sometimes the complete molecule of the mitochondrial DNA, as a genealogical DNA test. (wikipedia.org)
  • These 440 base pairs are then compared to the control regions of other individuals (either specific people or subjects in a database) to determine maternal lineage. (wikipedia.org)
  • consists
  • Models of these behaviors that can be found in literature are characterized by a swarm opti on which consists in the appearance best binary options usa macroscopic patterns obtained with simple entities obeying to simple local coordination rules 6,5. (4gamers-market.ru)
  • HVR1, for example, consists of about 440 base pairs. (wikipedia.org)
  • final stage
  • The aim of this study is to estimate the influence of general environmental conditions on human organism at the final stage of the Neolithic period - in the Corded Ware culture. (blogspot.com)
  • During the final stage, cytokinesis, the chromosomes and cytoplasm separate into two new daughter cells. (wikipedia.org)
  • average
  • Mechanisms for this include simple dilution (an egg contains on average 200,000 mtDNA molecules, whereas a healthy human sperm was reported to contain on average 5 molecules ), degradation of sperm mtDNA in the male genital tract, in the fertilized egg, and, at least in a few organisms, failure of sperm mtDNA to enter the egg. (wikipedia.org)
  • similar
  • Activity anorexia (AA) is a condition where rats begin to exercise excessively while simultaneously cutting down on their food intake, similar to human anorexia nervosa or hypergymnasia. (wikipedia.org)
  • features
  • Furthermore, in humans, promoters show certain structural features characteristic for each chromosome. (wikipedia.org)
  • Other changes in the number or structure of chromosome 7 can cause delayed growth and development, mental disorder, characteristic facial features, skeletal abnormalities, delayed speech, and other medical problems. (wikipedia.org)
  • certain
  • Some of these compounds had some antioxidant activity in certain cells and some effected yeast cells expressing human estrogen. (wikipedia.org)
  • cause
  • Spiral wave breakup is believed to be a cause of ventricular fibrillation in human hearts(see movie). (blogspot.com)
  • animals
  • In non-human animals in the laboratory it has been examined through the ingestion of kaolin (a clay mineral) by rats. (wikipedia.org)
  • mental
  • Historically, there has been an anthropocentric tendency to emphasize the study of animal psychopathologies as models for human mental illnesses. (wikipedia.org)