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.
A genome search identifies major quantitative trait loci on human chromosomes 3 and 4 that influence cholesterol concentrations in small LDL particles. (1/1292)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)
SAG, a novel zinc RING finger protein that protects cells from apoptosis induced by redox agents. (2/1292)SAG (sensitive to apoptosis gene) was cloned as an inducible gene by 1,10-phenanthroline (OP), a redox-sensitive compound and an apoptosis inducer. SAG encodes a novel zinc RING finger protein that consists of 113 amino acids with a calculated molecular mass of 12.6 kDa. SAG is highly conserved during evolution, with identities of 70% between human and Caenorhabditis elegans sequences and 55% between human and yeast sequences. In human tissues, SAG is ubiquitously expressed at high levels in skeletal muscles, heart, and testis. SAG is localized in both the cytoplasm and the nucleus of cells, and its gene was mapped to chromosome 3q22-24. Bacterially expressed and purified human SAG binds to zinc and copper metal ions and prevents lipid peroxidation induced by copper or a free radical generator. When overexpressed in several human cell lines, SAG protects cells from apoptosis induced by redox agents (the metal chelator OP and zinc or copper metal ions). Mechanistically, SAG appears to inhibit and/or delay metal ion-induced cytochrome c release and caspase activation. Thus, SAG is a cellular protective molecule that appears to act as an antioxidant to inhibit apoptosis induced by metal ions and reactive oxygen species. (+info)
Role of amplified genes in the production of autoantibodies. (3/1292)A variety of previously published studies have shown the presence of autoantibodies directed against oncogenic proteins in the sera of patients with tumors. Generally the underlying genetic aberration responsible for the induction of an immune response directed against an abnormal protein is unknown. In our studies we analyzed the role of gene amplification in the production of autoantibodies in squamous cell lung carcinoma. We screened a cDNA expression library with autologous patient serum and characterized the isolated cDNA clones encoding tumor expressed antigens termed LCEA (lung carcinoma expressed antigens). As determined by sequence analysis, the 35 identified cDNA clones represent 19 different genes of both known and unknown function. The spectrum of different clones were mapped by polymerase chain reaction (PCR) and fluorescence in-situ hybridization, showing that a majority are located on chromosome 3, which is frequently affected by chromosomal abnormalities in lung cancer. Gene amplification of 14 genes was analyzed by comparative PCR. Nine genes (65% of all analyzed genes) were found to be amplified; furthermore, most of them are also overrepresented in the pool of cDNA clones, suggesting an overexpression in the corresponding tumor. These results strongly suggest that gene amplification is one possible mechanism for the expression of immunoreactive antigens in squamous cell lung carcinoma. (+info)
Loss of heterozygosity at 3p14.2 in clear cell renal cell carcinoma is an early event and is highly localized to the FHIT gene locus. (4/1292)The VHL tumor suppressor gene (TSG) at 3p25-26 is strongly implicated in the pathogenesis of clear cell renal cell carcinoma (cRCC). In addition, 3p14.2 and 3p21 are suspected of harboring additional TSGs in cRCC, with FHIT being a candidate TSG at 3p14.2. We examined 87 microdissected, histologically well-defined cRCCs classified according to tumor-node-metastasis (TNM) stage (stage 1, 23 cases; stage 2, 14 cases; stage 3, 24 cases; stage 4, 26 cases) and Fuhrman grade (grade 1, 24 cases; grade 2, 19 cases; grade 3, 19 cases; grade 4, 8 cases; sarcomatoid cRCC, 17 cases) for loss of heterozygosity (LOH) at 3p14.2 and 3p25-26 using a series of precisely mapped microsatellite probes. We found that LOH at 3p14.2 exceeded LOH at 3p25-26 in frequency (69% versus 48.3%; P < 0.03) and was highly localized to markers within the FHIT gene locus (D3S1300 and D3S4260), with the majority of chromosomal breakpoints also mapping to this region. In addition, 3p14.2 LOH (P < 0.03), but not 3p25-26 LOH (P = nonsignificant), was associated with lower tumor grades (grades 1-3). These findings suggest that 3p14.2 genomic deletions may be among the earliest events in cRCC pathogenesis, preceding genomic deletions at the VHL locus. FHIT, or an as yet undiscovered TSG mapping to the D3S4103-D3S4260 interval, could be the molecular target of the 3p14.2 deletions. (+info)
Frequent loss of heterozygosity at the DNA mismatch-repair loci hMLH1 and hMSH3 in sporadic breast cancer. (5/1292)To study the involvement of DNA mismatch-repair genes in sporadic breast cancer, matched normal and tumoral DNA samples of 22 patients were analysed for genetic instability and loss of heterozygosity (LOH) with 42 microsatellites at or linked to hMLH1 (3p21), hMSH2 (2p16), hMSH3 (5q11-q13), hMSH6 (2p16), hPMS1 (2q32) and hPMS2 (7p22) loci. Chromosomal regions 3p21 and 5q11-q13 were found hemizygously deleted in 46% and 23% of patients respectively. Half of the patients deleted at hMLH1 were also deleted at hMSH3. The shortest regions of overlapping (SRO) deletions were delimited by markers D3S1298 and D3S1266 at 3p21 and by D5S647 and D5S418 at 5q11-q13. Currently, the genes hMLH1 (3p21) and hMSH3 (5q11-q13) are the only known candidates located within these regions. The consequence of these allelic losses is still unclear because none of the breast cancers examined displayed microsatellite instability, a hallmark of mismatch-repair defect during replication error correction. We suggest that hMLH1 and hMSH3 could be involved in breast tumorigenesis through cellular functions other than replication error correction. (+info)
Skin pigmentary anomalies and mosaicism for an acentric marker chromosome originating from 3q. (6/1292)We report on a 22 year old man with hyperpigmentation distributed along the lines of Blaschko in whom cytogenetic analysis showed mosaicism for an unusual supernumerary marker chromosome. The patient was of normal intelligence and was not dysmorphic. The marker was present in 30% of his lymphocytes and in 6% of his skin fibroblasts from a dark area, while fibroblasts from a light area showed a normal karyotype, 46,XY. We have identified the origin of the marker using fluorescence in situ hybridisation (FISH) with whole chromosome painting probes and YAC specific clones. The marker was found to consist of duplicated chromosome material from the distal part of chromosome 3q and was interpreted as inv dup(3)(qter-->q27.1::q27.1-->qter). Hence, this marker did not include any known centromeric region and no alpha satellite DNA could be detected at the site of the primary constriction. The patient was therefore tetrasomic for 3q27-q29 in the cells containing the marker chromosome. We postulate that, in our case, pigmentary anomalies may result directly from the gain of specific pigmentation genes localised on chromosome 3q. (+info)
Identification of the activating and conjugating enzymes of the NEDD8 conjugation pathway. (7/1292)NEDD8 is a ubiquitin-like molecule that can be covalently conjugated to a limited number of cellular proteins, such as Cdc53/cullin. We have previously reported that the C terminus of NEDD8 is efficiently processed to expose Gly-76, which is required for conjugation to target proteins. A combination of data base searches and polymerase chain reaction cloning was used to identify a cDNA encoding human UBA3, which is 38% identical to the yeast homologue, 22% identical to human UBA2, and 19% identical to the C-terminal region of human UBE1. The human UBA3 gene is located on chromosome 3p13 and gave rise to a 2.2-kilobase pair transcript that was detected in all tissues. Human UBA3 could be precipitated with glutathione S-transferase (GST)-NEDD8, but not with GST-ubiquitin or GST-sentrin-1. Moreover, human UBA3 could form a beta-mercaptoethanol-sensitive conjugate with NEDD8 in the presence of APP-BP1, a protein with sequence homology to the N-terminal half of ubiquitin-activating enzyme. We have also cloned human UBC12 and demonstrated that it could form a thiol ester linkage with NEDD8 in the presence of the activating enzyme complex. Identification of the activating and conjugating enzymes of the NEDD8 conjugation pathway should allow for a more detailed study of the role of NEDD8 modification in health and disease. (+info)
Correlation of abnormal RB, p16ink4a, and p53 expression with 3p loss of heterozygosity, other genetic abnormalities, and clinical features in 103 primary non-small cell lung cancers. (8/1292)This study was performed to determine the frequency of inactivation and clinical correlates in non-small cell lung cancer (NSCLC) of three known tumor suppressor genes [TSGs; RB, MTS1/CDKN2 (p16), and p53] and various regions of 3p loss of heterozygosity (LOH) as other major potential TSG sites. Paraffin sections from 103 resected NSCLCs were analyzed for expression of pRB, p16, and p53 by immunohistochemistry, whereas DNA from tumor and normal tissue were tested for LOH at 3p25-26, 3p21, and 3p14. Previously published LOH data for 5q, 11p, 17q, and 18q were also available. Loss of pRB or p16 expression and overexpression of p53 were considered abnormal. The immunohistochemical and LOH data were correlated with a variety of clinical parameters including stage, age, sex, smoking history, and survival. With respect to pRB, p16, and p53, the tumors could be grouped into four categories: normal for all three proteins (21%); abnormal for pRB or p16 and normal for p53 (30%); normal for pRB and p16 and abnormal for p53 (20%); and abnormal in both pathways (28%). Aberrant expression of pRB, p16, p53, and 3p LOH, either individually or in combination, was not associated with survival differences or any other clinical parameters, with the exception that pRB/pl6 abnormalities were more common in older patients (P = 0.0005). pRB and p16 expression showed a strong inverse correlation (P = 0.002), whereas there was no correlation between expression of pRB, p16, and p53. Abnormal expression of any of the three genes inversely correlated with K-ras codon 12 mutations (P = 0.004), but not with 3p LOH or LOH at other TSG loci. We conclude that resectable NSCLCs show distinct patterns of TSG inactivation, but that no clear clinical correlates exist either alone or in combination for pRB, p16, p53, and 3p abnormalities. (+info)
GF ID TUSC2 #=GF AC PF15000.7 #=GF DE Tumour suppressor candidate 2 #=GF AU Eberhardt R;0000-0001-6152-1369 #=GF SE Jackhmmer:O75896 #=GF GA 25.00 25.00; #=GF TC 25.10 25.00; #=GF NC 24.60 24.80; #=GF BM hmmbuild HMM.ann SEED.ann #=GF SM hmmsearch -Z 47079205 -E 1000 --cpu 4 HMM pfamseq #=GF TP Family #=GF WK TUSC2 #=GF RN  #=GF RM 11593436 #=GF RT Overexpression of candidate tumor suppressor gene FUS1 isolated #=GF RT from the 3p21.3 homozygous deletion region leads to G1 arrest #=GF RT and growth inhibition of lung cancer cells. #=GF RA Kondo M, Ji L, Kamibayashi C, Tomizawa Y, Randle D, Sekido Y, #=GF RA Yokota J, Kashuba V, Zabarovsky E, Kuzmin I, Lerman M, Roth J, #=GF RA Minna JD; #=GF RL Oncogene. 2001;20:6258-6262. #=GF RN  #=GF RM 15126327 #=GF RT Myristoylation of the fus1 protein is required for tumor #=GF RT suppression in human lung cancer cells. #=GF RA Uno F, Sasaki J, Nishizaki M, Carboni G, Xu K, Atkinson EN, #=GF RA Kondo M, Minna JD, Roth JA, Ji L; #=GF RL Cancer Res. ...
Nokia Lumia 1520 vs BLU Advance 4.0 | Wirefly
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Disease InfoSearch - Familial Renal Cell Carcinoma - Definition, causes, resources and support information
Gene Report for G00001333 - Genes2Cognition Neuroscience Research Programme
Lerman MI and Minna JD. Laboratory of Immanobiology, National Cancer Institute, Frederick Cancer Research and Development Center, Maryland 21702, USA. [email protected] We used overlapping and nested homozygous deletions, contig building, genomic sequencing, and physical and transcript mapping to further define a approximately 630-kb lung cancer homozygous deletion region harboring one or more tumor suppressor genes (TSGs) on chromosome 3p21.3. This location was identified through somatic genetic mapping in tumors, cancer cell lines, and premalignant lesions of the lung and breast, including the discovery of several homozygous deletions. The combination of molecular manual methods and computational predictions permitted us to detect, isolate, characterize, and annotate a set of 25 genes that likely constitute the complete set of protein-coding genes residing in this approximately 630-kb sequence. A subset of 19 of these genes was found within the deleted overlap region of approximately 370-kb. ...
p53: a frequent target for genetic abnormalities in lung cancer | Science
Allele loss is a hallmark of chromosome regions harboring recessive oncogenes. Lung cancer frequently demonstrates loss of heterozygosity on 17p. Recent evidence suggests that the p53 gene located on 17p13 has many features of such an antioncogene. The p53 gene was frequently mutated or inactivated in all types of human lung cancer. The genetic abnormalities of p53 include gross changes such as homozygous deletions and abnormally sized messenger RNAs along with a variety of point or small mutations, which map to the p53 open reading frame and change amino acid sequence in a region highly conserved between mouse and man. In addition, very low or absent expression of p53 messenger RNA in lung cancer cell lines compared to normal lung was seen. These findings, coupled with the previous demonstration of 17p allele loss in lung cancer, strongly implicate p53 as an anti-oncogene whose disruption is involved in the pathogenesis of human lung cancer. ...
NDST4 Is a Novel Candidate Tumor Suppressor Gene at Chromosome 4q26 and Its Genetic Loss Predicts Adverse Prognosis in...
Background Genomic deletion at tumor suppressor loci is a common genetic aberration in human cancers. The study aimed to explore candidate tumor suppressor genes at chromosome 4q25-q28.2 and to delineate novel prognostic biomarkers associated with colorectal cancer (CRC). Methods Deletion mapping of chromosome 4q25-q28.2 was conducted in 114 sporadic CRC by loss of heterozygosity study with 11 microsatellite markers. A novel candidate tumor suppressor gene, namely NDST4, was identified at 4q26. Gene expression of NDST4 was investigated in 52 pairs of primary CRC tissues by quantitative reverse transcription-polymerase chain reaction. Allelic loss of NDST4 gene was further determined in 174 colorectal carcinomas by loss of heterozygosity analysis, and then was assessed for clinical relevance. Results One minimal deletion region was delineated between D4S2297 and D4S2303 loci at 4q26, where NDST4 was the only gene that had markedly been downregulated in CRC tumors. By laser capture microdissection,
Anti-Human FHIT Antibody | Human FHIT Antibody | FHIT Antibody | Fragile Histidine Triad Protein Antibody
The human fragile histidine triad (FHIT) gene encodes a protein that is involved in purine metabolism. Aberrant transcripts from this gene, typically from carcinogen-induced damage and translocations, have been found in about half of all esophageal, stomach, and colon carcinomas. Although the exact function of human FHIT protein is not known, animal studies have demonstrated its role as a tumor suppressor in breast and lung cancers. FHIT protein is also known as bis(5-adenosyl)-triphosphatase, diadenosine 5,5-P1,P3-triphosphate hydrolase, AP3A hydrolase, AP3Aase, dinucleosidetriphosphatase, and FRA3B.. ...
Anti-Human FHIT Antibody | Human FHIT Antibody | FHIT Antibody | Fragile Histidine Triad Protein Antibody
The human fragile histidine triad (FHIT) gene encodes a protein that is involved in purine metabolism. Aberrant transcripts from this gene, typically from carcinogen-induced damage and translocations, have been found in about half of all esophageal, stomach, and colon carcinomas. Although the exact function of human FHIT protein is not known, animal studies have demonstrated its role as a tumor suppressor in breast and lung cancers. FHIT protein is also known as bis(5-adenosyl)-triphosphatase, diadenosine 5,5-P1,P3-triphosphate hydrolase, AP3A hydrolase, AP3Aase, dinucleosidetriphosphatase, and FRA3B.. ...
In this study, we have demonstrated that 44% of colorectal cancers have markedly reduced expression of Fhit protein. A similar reduction of Fhit protein expression has been reported in other human tumors such as lung (4) , cervical (12) , renal (11) , pancreatic (10) , head and neck (6) , and breast (5) carcinomas. The frequent loss of Fhit protein expression, the expression of aberrant FHIT transcripts, and numerous deletions within the FHIT gene suggest that FHIT is a candidate suppressor gene common to many cancers (reviewed in Ref. 1 ). In addition to the loss of Fhit protein expression, our studies found additional evidence that suggests that Fhit is important in colon tumorigenesis. A trend of increased proportions of colorectal cancers expressed reduced levels of Fhit (a) with decreasing degrees of differentiation, (b) with more advanced stages (Dukes stage C and D) compared with less advanced stages (Dukes stage A and B) of primary tumors, and (c) in metastatic lesions compared with ...
IgLON - Vikipeedia
Lsamp geen kodeerib membraanvalku LSAMP (limbilise süsteemiga assotsieeritud membraani proteiin), mille funktsiooni seostatakse peamiselt aju limbilise süsteemiga. LSAMP on 64-68-kDa (kilodalton) glükoproteiin, mis koosneb valgust ja polüsahhariidide ahelast. LSAMP valgul esineb IgLON perekonnale iseloomulikult kolm Ig domeeni ja GPI (glükosüül-fosfatidüül-inositooli) ankur. LSAMP on inimesel ja närilistel 99%-lise identsusega, samuti esineb kanal ja ahvil sarnane geeni avaldumismuster. Inimesel asub LSAMP geen 3. kromosoomis, olles 2,2 Mb (megaaluspaari) suurune, sisaldades 11 eksonit (DNA lõik, mis ühendatakse mRNA pidevasse järjestusse) ja kahte ekson ühte (1a ja 1b), mis paiknevad üksteisest 1,6 Mb kaugusel. Hiirel esineb Lsamp 16. kromosoomis, geen on 2,28 Mb suurune ja sisaldab samuti 11 eksonit ning kolme ekson ühte (1a, 1a ja 1b). Ekson 1a ei oma eraldi promootorit (transkriptsiooni alguspunkti) nii nagu 1a ja 1b. Eksonid 1a ja 1a kodeerivad alternatiivseid ...
phone refuses to boot. stays stuck on BLU screen. - BLU Advance 4.0 - iFixit
My phone powered down regularly after running out of juice and after charging (the phone showed no signs of charging even) however when powered on it is stuck on the BLU screen and will not go past that. I have not dropped or damaged the phone in any way and dont understand how it just stopped work... - BLU Advance 4.0
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Induction of Apoptosis and Inhibition of Tumorigenicity and Tumor Growth by Adenovirus Vector-mediated Fragile Histidine Triad ...
We have shown: (a) that adenoviral vector-mediated overexpression of the wild-type FHIT gene efficiently inhibited growth of tumor cells of varying FHIT gene and gene product status in vitro; (b) that the tumorigenicity of the Ad-FHIT-transduced tumor cells was eliminated in vivo; and (c) that tumor growth was significantly suppressed by direct injection of the FHIT-expressing adenoviral vector into s.c. tumors in nude mice. These results provided direct evidence for the biological function of FHIT as a tumor suppressor gene both in vitro and in vivo.. The lung cancer cell lines H1299, A549, and H460 and the head and neck carcinoma cell line 1483 all exhibit an altered or inactivated FHIT gene, as shown by reverse transcription-PCR and Northern blot analysis (7 , 9 , 18) , lack endogenous Fhit protein expression, as shown by Western blot analysis, and are highly tumorigenic. Alterations in the FHIT locus have been shown to be correlated with loss or reduction of Fhit protein expression in tumors ...
DPC4, A Candidate Tumor Suppressor Gene at Human Chromosome 18q21.1 | Science
About 90 percent of human pancreatic carcinomas show allelic loss at chromosome 18q. To identify candidate tumor suppressor genes on 18q, a panel of pancreatic carcinomas were analyzed for convergent sites of homozygous deletion. Twenty-five of 84 tumors had homozygous deletions at 18q21.1, a site that excludes DCC (a candidate suppressor gene for colorectal cancer) and includes DPC4, a gene similar in sequence to a Drosophila melanogaster gene (Mad) implicated in a transforming growth factor-β (TGF-β)-like signaling pathway. Potentially inactivating mutations in DPC4 were identified in six of 27 pancreatic carcinomas that did not have homozygous deletions at 18q21.1. These results identify DPC4 as a candidate tumor suppressor gene whose inactivation may play a role in pancreatic and possibly other human cancers.. ...
Fragile histidine triad definition | Drugs.com
WikiGenes - FHIT - fragile histidine triad
The candidate tumor suppressor gene BLU, located at the commonly deleted region 3p21.3, is an E2F-regulated, stress-responsive...
Qiu, G.-H.,Lim, C.Y.,Tao, Q.,Tan, L.K.S.,Loh, K.S.,Srivastava, G.,Tsai, S.-T.,Tsao, S.W. (2004). The candidate tumor suppressor gene BLU, located at the commonly deleted region 3p21.3, is an E2F-regulated, stress-responsive gene and inactivated by both epigenetic and genetic mechanisms in nasopharyngeal carcinoma. Oncogene 23 (27) : 4793-4806. [email protected] Repository. https://doi.org/10.1038/sj.onc.1207632 ...
Sequence Similarity - 1FHI: SUBSTRATE ANALOG (IB2) COMPLEX WITH THE FRAGILE HISTIDINE TRIAD PROTEIN, FHIT Sequence...
Recombinant Human FHIT protein (ab95856) | Abcam
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MEDDELELSER FRA NORSK ELEKTROTEKNISK KOMITE - PDF
MEDDELELSER FRA NORSK ELEKTROTEKNISK KOMITE - PDF
KEGG PATHWAY: Small cell lung cancer - Homo sapiens (human)
Lung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% of all lung cancer cases. Molecular mechanisms altered in SCLC include induced expression of oncogene, MYC, and loss of tumorsuppressor genes, such as p53, PTEN, RB, and FHIT. The overexpression of MYC proteins in SCLC is largely a result of gene amplification. Such overexpression leads to more rapid proliferation and loss of terminal differentiation. Mutation or deletion of p53 or PTEN can lead to more rapid proliferation and reduced apoptosis. The retinoblastoma gene RB1 encodes a nuclear phosphoprotein that helps to regulate cell-cycle progression. The fragile histidine triad gene FHIT encodes the enzyme diadenosine triphosphate hydrolase, which is thought to have an indirect role in proapoptosis and cell-cycle control ...
Lung Cancer: Novel Tumour Suppressor Genes on Chromosome 9p - Cancer Council Victoria
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Hepatitis Monthly | Tumor Suppressor DLEC1 can Stimulate the Proliferation of Cancer Cells When AP-2ɑ2 is Down-Regulated in...
Our and others previous reports have demonstrated that the tumor suppressor DLEC1 is able to suppress cancer cell growth in vitro and in vivo (2, 6). The present study further confirmed the cell suppression function of DLEC1 by inducing G1 arrest and apoptosis in DLEC1 stable clones in colorectal cancer cell line HCT116. Induction of G1 arrest is a complex process, involving numerous factors. In addition to those tested in our study, others, such as p27 and pRb, also regulate G1/S transition (34). In this study, we found that over-expression of DLEC1 stimulated the expression of AP-2α2 (Figure 4), another tumor suppressor known to induce cell cycle arrest at G1 and apoptosis in various cancers (19-21). Therefore, cancer cell suppression by DLEC1 may be mediated through up-regulation of AP-2α2.. Nevertheless, given that DLEC1 is unlikely to be a transcription factor (Figure 1), and that AP-2α2 was up-regulated at transcriptional level by DLEC1 over-expression (Figure 4), DLEC1 is not likely ...
Analysis of losses of heterozygosity of the candidate tumour suppressor gene DMBT1 in melanoma resection specimens.
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Nijmegen breakage syndrome gene (NBS1) is not the tumor suppressor gene at 8q21.3 involved in colorectal carcinoma. - PubMed -...
Comprehensive molecular characterization of clear cell renal cell carcinoma
Genetic changes underlying clear cell renal cell carcinoma (ccRCC) include alterations in genes controlling cellular oxygen sensing (for example, VHL) and the maintenance of chromatin states (for example, PBRM1). We surveyed more than 400 tumours using different genomic platforms and identified 19 s …
In the present study, we investigated serum DNA methylation for p16, p15, and RASSF1A, three tumor suppressor genes frequently hypermethylated in HCC. Blood samples were collected from 50 HCC cases 0 to 9 years before diagnosis. The frequencies of detection of gene methylation in the available samples collected closest to diagnosis are consistent with previous studies of serum DNA from HCC patients using blood collected at the time of diagnosis: p16, 44.% versus 48% (22); p15, 22% versus 25% (12); and RASSF1A, 70% versus 43% (19). The detection frequencies for p16 and RASSF1A are also similar to our previous findings in HCC tissue DNAs (14). Hypermethylation was detected 1 to 8 years before clinical diagnosis for p16, 1 to 5 years for p15, and 1 to 9 years for RASSF1A. These findings show that p16, p15, and RASSF1A hypermethylation are early events in the development of HCC.. A specific missense mutation in the p53 tumor suppressor gene at codon 249 has been reported in ,50% of HCC tumors and in ...
Molecular damage in the bronchial epithelium of current and former smokers
LOH and microsatellite alterations were observed in biopsy specimens from both current and former smokers, but no statistically significant differences were observed between the two groups. Among individuals with a history of smoking, 86% demonstrated LOH in one or more biopsy specimens, and 24% showed LOH in all biopsy specimens. About half of the histologically normal specimens from smokers showed LOH, but the frequency of LOH and the severity of histologic change did not correspond until the carcinoma in situ stage. A subset of biopsy specimens from smokers that exhibited either normal or preneoplastic histology showed LOH at multiple chromosomal sites, a phenomenon frequently observed in carcinoma in situ and invasive cancer. LOH on chromosomes 3p and 9p was more frequent than LOH on chromosomes 5q, 17p (17p13; TP53 gene), and 13q (13q14; retinoblastoma gene). Microsatellite alterations were detected in 64% of the smokers. No genetic alterations were detected in nonsmokers. Conclusions: ...
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Clear cell renal cell carcinoma
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... each human diploid cell (containing 23 pairs of chromosomes) has about 1.8 meters of DNA; wound on the histones, the diploid ... This involves the wrapping of DNA around nucleosomes with approximately 50 base pairs of DNA separating each pair of ... of the human genome in five human cell lines". Genome Research. 17 (6): 691-707. doi:10.1101/gr.5704207. PMC 1891331. PMID ... is a transcription factor which activates histone gene transcription on chromosomes 1 and 6 of human cells. NPAT is also a ...
Protein FAM43A is a protein that is encoded in humans by the FAM43A gene. The acronym means "family with sequence similarity 43 ... FAM43A is located on chromosome 3 at location 3q29. It encodes a 3182 base pair mRNA which possesses one Pleckstrin homology- ... "Human PubMed Reference:". "Mouse PubMed Reference:". NCBI entry on FAM43A Wan D, Gong Y, Qin W, Zhang P, Li J, Wei L, Zhou X, ...
On the positive strand of human chromosome ten, located next to the 5' end of ANKRD26 is MASTL, microtubule associated serine/ ... ANKRD26 is found on chromosome 10, at 10q21. It has 6816 base pairs in the reference sequence mRNA transcript. LOC100289548 ( ... 2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375-81. doi:10.1038/nature02462 ... In humans ANKRD26 was seen to be most highly expressed in the ear, lymph, esophagus, parathyroid, and placenta, as well as, ...
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 ...
Collagen, type VII, alpha 1
COL7A1 is located on the short arm of human chromosome 3, in the chromosomal region denoted 3p21.31. The gene is approximately ... COL7A1 is transcribed into an mRNA of 9,287 base pairs. In the skin, the type VII collagen protein is synthesized by ... Collagen alpha-1(VII) chain is a protein that in humans is encoded by the COL7A1 gene. This gene encodes the alpha chain of ... Greenspan DS, Byers MG, Eddy RL, Hoffman GG, Shows TB (1993). "Localization of the human collagen gene COL7A1 to 3p21.3 by ...
In humans, aldolase B is encoded by the ALDOB gene located on chromosome 9. The gene is 14,500 base pairs long and contains 9 ... 1988). "Human aldolase B gene: characterization of the genomic aldolase B gene and analysis of sequences required for multiple ... Ali M, Sebastio G, Cox TM (1994). "Identification of a novel mutation (Leu 256→Pro) in the human aldolase B gene associated ... Aldolase B at the US National Library of Medicine Medical Subject Headings (MeSH) Human ALDOB genome location and ALDOB gene ...
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 ...
Aliases for LSMEM1 include C7orf53, chromosome 7 open reading frame 53, and FLJ39575. The human mRNA is 1686 base pairs long ... In humans, LSMEM1 is located on chromosome 7q31.1. LSMEM1 neighbors the gene IFRD1 in humans. ... It also shows expression in both the fetal and adult stages of life in humans. LSMEM1 is predicted to have a 615 base pair ... In humans, LSMEM1 is very highly expressed in skeletal muscle. In humans, LSMEM1 also shows high expression in nerve tissue, ...
The gene is located on chromosome 19 at p13.3 on the forward strand. The gene is 4041 base pairs in length and contains 29 ... ANKRD24 has no human paralogs. Orthologous proteins are found in other organisms. The following table represents some of the ... Ankyrin repeat domain-containing protein 24 is a protein in humans that is coded for by the ANKRD24 gene. The gene is also ... The protein's function in humans is currently unknown. ANKRD24 is in the protein family that contains ankyrin-repeat domains. ...
Transmembrane protein 251
The TMEM251 gene is located on human chromosome 14, at 14q32.12, on the plus strand. The gene size is 1,277 base pairs. It ... "Q8N6I4 - TM251_HUMAN". UniProt. UnitProt. Retrieved 9 May 2015. "Human BLAT Search". UCSC Genome Browser. UCSC. Retrieved 9 May ... EST Profile data shows the tissue expression of TMEM251 in humans. TMEM251 has no paralogs in humans. It does have orthologs ... In the human body, microarray-assessed tissue expression patterns show TMEM251 to be highly expressed in ascites, bladder, bone ...
Coiled-coil domain-containing 37 (FLJ40083)
The human gene CCDC37 is found on chromosome 3 at the band 3q21.3. It extends from base pairs 90,403,731 to 90,429,231, making ... the gene 25,500 base pairs long. It is located on the plus strand and contains 17 exons. There is only one paralog for CCDC37 ... found in humans, CCDC38. CCDC38 is located on chromosome 12. The ortholog space of CCDC37 is fairly broad including mammals, ... Coiled-coil domain-containing 37, also known as FLJ40083, is a protein that in humans is encoded by the CCDC37 gene (3q21.3). ...
Nuclear DNA in a human consists of 22 pairs of autosomes and two sex chromosomes. The 22 pairs of autosomes are derived half ... Evolution & Human Behavior 24: 99-112. Full text. *Knight, C. 2008. Early human kinship was matrilineal. In N. J. Allen, H. ... Early human kinship was matrilineal. In N. J. Allen, H. Callan, R. Dunbar and W. James (eds.), Early Human Kinship. Oxford: ... "Hierarchical patterns of global human Y-chromosome diversity". Mol Biol Evol. 18 (7): 1189-203. doi:10.1093/oxfordjournals. ...
Duffy antigen system
DARC protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) Duffy at BGMUT Blood Group Antigen ... The gene was first localised to chromosome 1 in 1968, and was the first blood system antigen to be localised. It is a single ... The mouse gene has two exons (100 and 1064 nucleotides in length respectively), separated by a 461 base pair intron. In the ... The ancestral form of extant DARC alleles in humans appears to be the FY*B allele. The gene appears to be under strong ...
The human TBR1 gene is located on the q arm of the positive strand of chromosome 2. It is 8,954 base pairs in length. TBR1 is ... "Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins". ... Orthologs of the human TBR1 gene have been identified in chimpanzee, dog, cow, rat, mouse, and zebrafish. In mice, TBR1 has ... It was discovered that Tbr-1 is expressed by postmitotic cortical neurons in mice and in humans. One target gene of TBR1 in the ...
"C12orf66 chromosome 12 open reading frame 66 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-02-25 ... C12orf66 variant 1 is 36 Mbp in length spanning the base pairs 64,186,312 - 64,222,296 on chromosome 12. There are 3 total ... The human C12orf66 protein is 446 amino acids in length with a molecular weight of 50kdal . C12orf66 contains the domain of ... C12orf66 is a protein that in humans is encoded by the C12orf66 gene. The C12orf66 protein is one of four proteins in the ...
The unspliced version of this gene is the longest and most common variant found in human cells and is 1298 base pairs in length ... CCDC109B contains eight exons and is located on the positive strand of chromosome four. CCDC109B has nine transcript variants ... Coiled-coil domain containing 109B (CCDC109B) is a potential calcium uniporter protein found in the membrane of human cells and ... The table below shows CCDC109B conservation among vertebrate organisms: CCDC109B has a single paralog in the human genome. This ...
"NotI linking/jumping clones of human chromosome 3: mapping of the TFRC, RAB7 and HAUSP genes to regions rearranged in leukemia ... specifically on the long q arm from base pair 128,726,135 to 128,814,797. The location was found using mapping which was first ... "Human PubMed Reference:". "Mouse PubMed Reference:". Davies JP, Cotter PD, Ioannou YA (Apr 1997). "Cloning and mapping of human ... Ras-related protein Rab-7a is a protein that in humans is encoded by the RAB7A gene. Ras-related protein Rab-7a is involved in ...
... study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome ... Signorile PG, Baldi F, Bussani R, D'Armiento M, De Falco M, Baldi A (April 2009). "Ectopic endometrium in human foetuses is a ... Changes on chromosome 1 near WNT4. Changes on chromosome 2 near GREB1. Changes on chromosome 6 near ID4. Changes on chromosome ... Changes on chromosome 9 near CDKN2BAS. Changes on chromosome 10 at region 10q26. Changes on chromosome 12 near VEZT. In ...
TP53-inducible glycolysis and apoptosis regulator
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 ...
The human NDUFB4 gene codes for a subunit of Complex I of the respiratory chain, which transfers electrons from NADH to ... The NDUFB4 gene, located on the q arm of chromosome 3 in position 13.33, is 6,130 base pairs long. The NDUFB4 protein weighs 15 ... NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa is a protein that in humans is encoded by the NDUFB4 gene. The ... GRCh38: Ensembl release 89: ENSG00000065518 - Ensembl, May 2017 "Human PubMed Reference:". "Mouse PubMed Reference:". "Entrez ...
The human NDUFB5 gene codes for a subunit of Complex I of the respiratory chain, which transfers electrons from NADH to ... The NDUFB5 gene, located on the q arm of chromosome 3 in position 26.33, is 19,713 base pairs long. The NDUFB5 protein weighs ... NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa is a protein that in humans is encoded by the NDUFB5 gene. The ... "Human PubMed Reference:". "Mouse PubMed Reference:". "Entrez Gene: NDUFB5 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 ...
Loss of heterozygosity
Most diploid cells, for example human somatic cells, contain two copies of the genome, one from each parent (chromosome pair); ... because there still is one functional gene left on the other chromosome of the chromosome pair. The remaining copy of the tumor ... Most of the chromosomes within somatic cells of individuals are paired, allowing for SNP locations to be potentially ... In UPD, a person receives two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other ...
Human genetic variation
Chromosome abnormalities are detected in 1 of 160 live human births. Apart from sex chromosome disorders, most cases of ... The human nucleotide diversity is estimated to be 0.1% to 0.4% of base pairs. A difference of 1 in 1,000 amounts to ... According to a 2000 study of Y-chromosome sequence variation, human Y-chromosomes trace ancestry to Africa, and the descendants ... No two humans are genetically identical. On average, in DNA sequence, each human is 99.5% similar to any other human. Even ...
The human PRR36 gene consists of 7 exons and is 5723 base pairs long. PRR36 is located on the short arm of human chromosome 19 ... both on human chromosome 19 and other chromosomes, tend to more frequently produce proteins that are involved in protein- ... The gene spans between base pair numbers 7868719 and 7874441 on chromosome 19 and is located between two other genes-LYPLA2P2, ... DUF4596 on human PRP36 is 47 amino acids long, has an isoelectric point of 3.77, and is almost completely conserved across ...
... is a valid, protein coding gene that is located on the minus strand of the q-arm of chromosome 2. Its exact location is ... Its genomic mRNA length is 9,807 base pairs. Its genomic DNA length is 24.3 kilobases. It has 8 exons, 4 common splice forms. ... is the hypothetical protein that in humans is encoded by the PLEKHM3 gene. PLEKHM3 is also known as DAPR (differentiation ... PLEKHM3 contains 3 domains. Two domains are highly conserved across mammalian species. The most highly conserved region is the ...
This gene is found on the plus strand of chromosome 17 at locus 17q11.2. It spans from base pairs 31,254,928 to 31,272,124. ... "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome ... This missing region corresponds to 85 base pairs near the end of the 5' UTR. Variant one is more abundant than Variant two with ... Transmembrane protein 98 is a single-pass membrane protein that in humans is encoded by the TMEM98 gene. The function of this ...
The human genome is the complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in ... Chromosome lengths were estimated by multiplying the number of base pairs by 0.34 nanometers, the distance between base pairs ... The genome is organized into 22 paired chromosomes, plus the X chromosome (one in males, two in females) and, in males only, ... The human genome was the first of all vertebrates to be completely sequenced. As of 2012, thousands of human genomes have been ...
... 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 ...
Mothers against decapentaplegic homolog 3
The human SMAD3 gene is located on chromosome 15 on the cytogenic band at 15q22.33. The gene is composed of 9 exons over ... 129,339 base pairs. It is one of several human homologues of a gene that was originally discovered in the fruit fly Drosophila ... Lu S, Lee J, Revelo M, Wang X, Lu S, Dong Z (October 2007). "Smad3 is overexpressed in advanced human prostate cancer and ... Lu S, Lee J, Revelo M, Wang X, Lu S, Dong Z (October 2007). "Smad3 is overexpressed in advanced human prostate cancer and ...
... 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. ...
This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.. *v ... "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... Homeobox protein Hox-D8 is a protein that in humans is encoded by the HOXD8 gene. ... Goodman FR (2003). "Limb malformations and the human HOX genes". Am. J. Med. Genet. 112 (3): 256-65. doi:10.1002/ajmg.10776. ...
They are usually found in pairs (diplococci) and do not form spores and are nonmotile. As a significant human pathogenic ... For a bacterium to bind, take up, and recombine exogenous DNA into its chromosome, it must enter a special physiological state ... The genome of S. pneumoniae is a closed, circular DNA structure that contains between 2.0 and 2.1 million base pairs depending ... pneumoniae can be found in the human upper respiratory system. A study of competition in vitro revealed S. pneumoniae ...
When adenine is deaminated, it becomes hypoxanthine, which can pair with cytosine. During replication, the cytosine will pair ... It further contends that only a minority of the genetic material is kept in circular chromosomes while the rest is in branched ... but not human mtDNA). ... Hypoxanthine can bind to cytosine, and when the XC base pair is ... Chloroplast DNAs are circular, and are typically 120,000-170,000 base pairs long. They can have a contour length of ...
... except that the sequences at these loci may differ between the two chromosomes in a matching pair and that a few chromosomes ... For organisms in which the male is heterogametic, such as humans, almost all X-linked genes are hemizygous in males with normal ... chromosomes because they have only one X chromosome and few of the same genes are on the Y chromosome. Transgenic mice ... A chromosome in a diploid organism is hemizygous when only one copy is present. The cell or organism is called a hemizygote ...
Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene. ... Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... Poleev A, Fickenscher H, Mundlos S, Winterpacht A, Zabel B, Fidler A, Gruss P, Plachov D (November 1992). "PAX8, a human paired ... Members of this gene family typically encode proteins which contain a paired box domain, an octapeptide, and a paired-type ...
... is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6 (not to be ... 1 million base pairs centromeric from DQ2.5 may also be associated with Type 1 diabetes. In addition the BAT1 and MICB variant ... These unique chromosomes are produced by recombination of each unique chromosome passed by each grandparent to each parent. ... At 4.7 million nucleotides in length, A1::DQ2 is the second longest haplotype identified within the human genome. A1::DQ2 ...
By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... "American Journal of Human Genetics. 64 (1): 225-31. doi:10.1086/302198. PMC 1377721. PMID 9915962.. ... 87 (3): 469-478. doi:10.1037/0033-2909.87.3.469. PMID 7384341.. *^ a b c d e f Tadmouri GO, Nair P, Obeid T, Al Ali MT, Al ... Van Den Berghe, Pierre L (2010). "Human inbreeding avoidance: Culture in nature". Behavioral and Brain Sciences. 6: 91-102. doi ...
Fluorescence in situ hybridization
... so each human chromosome can be identified by a characteristic color using whole-chromosome probe mixtures and a variety of ... Each probe for the detection of mRNA and lncRNA is composed of 20 oligonucleotide pairs, each pair covering a space of 40-50 bp ... The chromosomes can be seen in blue. The chromosome that is labeled with green and red spots (upper left) is the one where the ... Then, an interphase or metaphase chromosome preparation is produced. The chromosomes are firmly attached to a substrate, ...
Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the PSEN1 gene. Presenilin-1 is one of the four ... Kang DE, Soriano S, Xia X, Eberhart CG, De Strooper B, Zheng H, Koo EH (September 2002). "Presenilin couples the paired ... "Genetic linkage evidence for a familial Alzheimer's seasesease locus on chromosome 14". Science. 258 (5082): 668-71. Bibcode: ... Tanahashi H, Tabira T (February 1999). "Isolation of human delta-catenin and its binding specificity with presenilin 1". ...
Mycobacterium avium subspecies paratuberculosis
... genome of MAP strain K-10 was sequenced in 2005 and found to consist of a single circular chromosome of 4,829,781 base pairs, ... It has long been suspected as a causative agent in Crohn's disease in humans, but studies have been unable to show ... Recent studies have shown that MAP present in milk can survive pasteurization, which has raised human health concerns due to ... It is the causative agent of Johne's disease, which affects ruminants such as cattle, and suspected causative agent in human ...
Sigurdsson S, Van Komen S, Petukhova G, Sung P (Nov 2002). "Homologous DNA pairing by human recombination factors Rad51 and ... condensed chromosome. • nuclear chromosome, telomeric region. • nucleus. • nuclear chromatin. • lateral element. • cytosol. • ... nuclear chromosome. • mitochondrial matrix. • nucleolus. • mitochondrion. • perinuclear region of cytoplasm. • chromatin. • ... condensed nuclear chromosome. • macromolecular complex. Biological process. • regulation of protein phosphorylation. • strand ...
V. faba has a diploid (2n) chromosome number of 12 (six homologous pairs). Five pairs are acrocentric chromosomes and one pair ... It is of uncertain origin:160 and widely cultivated as a crop for human consumption. It is also used as a cover crop, the ... In much of the English-speaking world, the name "broad bean" is used for the large-seeded cultivars grown for human food, while ... might frown on human consumption. But in Liguria, a maritime region near northern Italy, fava beans are loved raw, and consumed ...
... even though the fox genome has 16 pairs of metacentric autosomes and the dog has 37 pairs of acrocentric autosomes. ... These were foxes that were eager to have human contact. By the 10th generation 18 percent of fox pups were in this "elite" ... Using 320 microsatellites Trut and co-workers showed that all 16 fox autosomes and one X chromosome were covered, and that ... Retrieved 3 March 2018.. *^ a b Kukekova, A.V.; Trut, L.N.; Oskina, I.N.; Kharlamova, A.V.; Shikhevich, S.G.; Kirkness, E.F.; ...
... usually have a single circular chromosome, with as many as 5,751,492 base pairs in Methanosarcina acetivorans,[130 ... making up about one in ten of all the prokaryotes in the human gut. In termites and in humans, these methanogens may in ... Circular chromosomes, similar translation and transcription to Eukarya. Circular chromosomes, unique translation and ... after the cell's chromosome is replicated and the two daughter chromosomes separate, the cell divides. In the genus ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... See also: Category:Genes on human chromosome 16.. The following is a partial list of genes on human chromosome 16. For complete ... "Chromosome 16". Genetics Home Reference. Retrieved 2017-05-06.. *. "Chromosome 16". Human Genome Project Information Archive ... Human chromosome 16 pair after G-banding.. One is from mother, one is from father. ...
Genetically, there are 74 diploid chromosomes (36 pairs). Appearance. The crab-eating fox is predominantly greyish-brown ... its habitat is slowly shrinking due to human activity such as agriculture, as well as feral dogs' encroachment on its territory ... The adult female gives birth to one or two litters per year, and the breeding pair is monogamous. The pair ranges the plains ... It either hunts individually or lives in pairs; it eats crabs, lizards and different flying animals. It is easy to domesticate ...
Likewise, gray wolf Y-chromosomes have also been found in a few individual male Texan coyotes. This study suggested that ... By late 2012, it was estimated that there were at least 75 wolves and four breeding pairs living in the recovery areas, with 27 ... The Mexican wolf persisted longer in Mexico, as human settlement, ranching and predator removal came later than in the ... A pair of Mexican wolves with pups at Sevilleta Wolf Management Facility in Socorro, New Mexico ...
Pu'er with chrysanthemum is the most common pairing, and referred as guk pou or guk bou (菊普; Cantonese Yale: guk1 pou2; pinyin ... Larger specimens of this shape are sometimes called "human-head tea" (人頭茶), due in part to its size and shape, and because in ... This notion has recently been refuted through a systematic chromosome analysis of the species attributed to many East Asian ... Wild trees (gŭshù, 古树; literally "old tree"): Teas from old wild trees, grown without human intervention, are the highest ...
分子演化 - 维基百科，自由的百科全书
Crosland, M.W.J., Crozier, R.H. Myrmecia pilosula, an ant with only one pair of chromosomes. Science. 1986, 231 (4743): 1278. ... Ijdo, J. W., Baldini, A., Ward, D. C., Reeders, S. T., & Wells, R. A. Origin of human chromosome 2: an ancestral telomere- ... 選擇可以作用在基因而非個體的層級，即使降低個體的適應度，自私DNA仍然可以演化，造成基因組內部衝突。例子包括跳躍子、減數分裂驅動者（meiotic drivers）、殺手X染色體（killer X chromosomes）、自私粒線體（
Genes on human chromosome 11. *Genes on human chromosome 14. *Genes on human chromosome 20 ... In 1943, with the help of Arda Green, the pair illustrated that glycogen phosphorylase existed in either the a or b forms ... The cloning of the human liver glycogen phosphorylase (HLGP) revealed a new allosteric binding site near the subunit interface ... 19 (3): 185-92. doi:10.1007/BF03188920. PMID 7867660.. *^ Hopfinger AJ, Reaka A, Venkatarangan P, Duca JS, Wang S (Sep 1999). " ...
This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.. *v ... "Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for ... "AIDS Research and Human Retroviruses. 6 (3): 371-80. doi:10.1089/aid.1990.6.371. PMID 2187500.. ... Human GAA genome location and GAA gene details page in the UCSC Genome Browser. ...
HumansEdit. Humans are bilaterals and deuterostomes. In humans, the term embryo refers to the ball of dividing cells from the ... Pair-rule genes define 7 segments of the embryo within the confines of the second broad segment that was defined by the gap ... Thus, a fly whose chromosomes are mutant in both copies of the Bicoid gene but who is born from a mother carrying one normal ... As of today, human embryology is taught as a cornerstone subject in medical schools, as well as in biology and zoology programs ...
MSH4, a enciclopedia libre
"MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice". ... Yi W, Wu X, Lee TH, Doggett NA, Her C (Jul 2005). "Two variants of MutS homolog hMSH5: prevalence in humans and effects on ... Her C, Wu X, Griswold MD, Zhou F (Feb 2003). "Human MutS homologue MSH4 physically interacts with von Hippel-Lindau tumor ... Räschle M, Dufner P, Marra G, Jiricny J (Jun 2002). "Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha ...
History of England
"A Y Chromosome Census of the British Isles" (PDF).. *^ Härke, Heinrich; Thomas, Mark G; Stumpf, Michael P H. "Integration ... earthsky.org/human-world/jawbone-is-earliest-evidence-of-modern-humans-in-europe ... The Acts of Union between the Kingdom of England and the Kingdom of Scotland were a pair of Parliamentary Acts passed by both ... "Y Chromosome Evidence for Anglo-Saxon Mass Migration".. *^ " ... Continuous human habitation in England dates to around 13,000 ...
... chromosome translocation in a human leukemia T-cell line indicates that putative regulatory regions are not altered". Proc. ... 3.2) Paired box. PAX (1, 2, 3, 4, 5, 6, 7, 8, 9) ... ARID (1A, 1B, 2, 3A, 3B, 4A) • CAP • IFI (16, 35) • MLL (2, 3, ... Astrin SM, Laurence J (1992). "Human immunodeficiency virus activates c-myc and Epstein-Barr virus in human B lymphocytes". Ann ... ARX • CDX (1, 2) • CRX • CUTL1 • DBX (1, 2) • DLX (3, 4, 5) • EMX2 • EN (1, 2) • FHL (1, 2, 3) • HESX1 • HHEX • HLX • Homeobox ...
"Final report on the human rights situation of the Roma, Sinti and travellers in Europe". The European Commissioner for Human ... "Y CHROMOSOME SINGLE NUCLEOTIDE POLYMORPHISMS TYPING BY SNaPshot MINISEQUENCING" (PDF). Bjmg.edu.mk. Retrieved 20 December 2016. ... and art present romanticized narratives of mystical powers of fortune telling or irascible or passionate temper paired with an ... European Journal of Human Genetics. 9 (2): 97-104. doi:10.1038/sj.ejhg.5200597. PMID 11313742. Archived from the original (PDF) ...
Modern Human Origins, and Complex Disease Mapping, Annual Review of Genomics and Human Genetics" (pdf). 9. Retrieved December ... In the 2003 PBS programme African American Lives, Bishop T.D. Jakes had his DNA analyzed; his Y chromosome showed[dubious - ... Igbo women were paired with Coromantee (Akan) men to subdue the men because of the belief that the women were bound to their ... Institute for the Study of Human Issues.. *^ ". Chisholm, Hugh, ed. (1911). "Ibo". Encyclopædia Britannica. 14 (11th ed.). ...
... a minimal reference phylogeny for the human Y chromosome". Human Mutation. 35 (2): 187-91. doi:10.1002/humu.22468. PMID ... Position (base pair): 180. Total size (base pairs): 366. Forward 5′→ 3′: aactcttgataaaccgtgctg. Reverse 5′→ 3′: ... a b c The Y Chromosome Consortium 2008 *^ a b c d e f g Cristofaro; et al. (2013). "Afghan Hindu Kush: Where Eurasian Sub- ... 2004). "Excavating Y-chromosome haplotype strata in Anatolia". Human Genetics. 114 (2): 127-48. doi:10.1007/s00439-003-1031-4. ...
Chromosomes, Human, Pair 3 | Harvard Catalyst Profiles | Harvard Catalyst
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification. ... "Chromosomes, Human, Pair 3" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... This graph shows the total number of publications written about "Chromosomes, Human, Pair 3" by people in Harvard Catalyst ... Below are the most recent publications written about "Chromosomes, Human, Pair 3" by people in Profiles. ...
Chromosome 3 - Wikipedia
G-bands of human chromosome 3 in resolution 850 bphs Chr. Arm Band ISCN. start ISCN. stop Basepair. start ... Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e. ... Wikimedia Commons has media related to Human chromosome 3.. *. National Institutes of Health. "Chromosome 3". Genetics Home ... "Human chromosome 3: entries, gene names and cross-references to MIM". UniProt. 2018-02-28. Retrieved 2018-03-16.. ...
Aspscr1 MGI Mouse Gene Detail - MGI:1916188 - alveolar soft part sarcoma chromosome region, candidate 1 (human)
Inverted insertion of chromosome 7q and ectrodactyly
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34
Chromosomes, Human, Pair 9 / genetics* * Female * Genes, Recessive * Genetic Linkage * Humans * Lipodystrophy / congenital ... AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34 Nat Genet. 2002 May;31(1):21-3. doi: ... phosphate O-acyltransferase 2 in 20 affected individuals from 11 pedigrees of diverse ethnicities showing linkage to chromosome ... We report several different mutations of the gene (AGPAT2) encoding 1-acylglycerol-3- ...
Assignment of the human stromelysin 3 (STMY3) gene to the q11.2 region of chromosome 22.
... and has been localized by in situ hybridization to the long arm of chromosome 22. As demonstrated usi ... The human stromelysin 3 (STMY3) gene, a new member of the matrix metalloproteinase (MMP) gene family, may contribute to breast ... Chromosome Mapping. Chromosomes, Human, Pair 22*. Female. Humans. Hybrid Cells. Matrix Metalloproteinase 11. ... The human stromelysin 3 (STMY3) gene, a new member of the matrix metalloproteinase (MMP) gene family, may contribute to breast ...
Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis.
Chromosome Mapping. Chromosomes, Human, Pair 3*. DNA Primers. DNA, Satellite / genetics. Female. Genes, Dominant. Humans. ... Title: Human molecular genetics Volume: 3 ISSN: 0964-6906 ISO Abbreviation: Hum. Mol. Genet. Publication Date: 1994 Jun ... 10987648 - Isolation of cag/ctg repeats from within the chromosome 2p21-p24 locus for autosomal do.... 7647798 - The gene for ... 2688928 - Molecular cloning of chromosome i dna from saccharomyces cerevisiae: localization of a .... 8582338 - Mutation ...
Double trans-chromosomic mice: Maintenance of two individual human chromosome fragments containing Ig heavy and κ loci and...
The AKT1 primer pair was 5′-ACGGGCACATTAAGATCACA-3′, 5′-TGCCGCAAAAGGTCTTCATG-3′. ... human chromosome fragment;. KO mouse,. knockout mouse;. HSA,. human serum albumin;. hu-mAbs,. human monoclonal antibodies;. ES ... In addition, hybridomas producing human IgG/κ antibodies against human proteins other than HSA, human tumor necrosis factor α ( ... They mounted an antigen-specific human antibody response upon immunization with human serum albumin, and human serum albumin- ...
The Rockefeller University » Pairing and Patterning Between Meiotic Chromosomes
How Can Mammals Learn New Vocalizations and Can Humans Learn How to Reduce Environmental Stressors to Maintain Critical ... 2:00 PM - 3:00 PM. , A LEVEL PHYSICS SEMINAR ROOM, ROOM A30, SMITH HALL ANNEX (CRC) ... Sciences has announced that Vosshall will receive the honor for her research into how disease-carrying mosquitoes select human ...
Chromosomes and DNA: MedlinePlus Medical Encyclopedia Image
... or 46 chromosomes in total. Chromosomes are made up of long strands of DNA, which contain all the bodys genes. ... Humans typically have 23 pairs chromosomes, or 46 chromosomes in total. Chromosomes are made up of long strands of DNA, which ... U.S. National Library of Medicine 8600 Rockville Pike, Bethesda, MD 20894 U.S. Department of Health and Human Services National ...
As climate changes threaten California's giant redwoods, the key to their salvation might be within them - The Washington Post
... "base pairs" of DNA on its chromosomes; a redwood has 38 billion. ... The same is true of humans.. "On a pretty routine basis, we ... As Californias climate changes to one of extremes and humans continue to harvest, the only coast redwoods on the planet are in ... For the first time, scientists are mapping the coast redwoods genome, a genetic code 12 times larger than that of a human ... describing how the information will be used in terms similar to how genetic material is applied in human health care. "Once the ...
Chromosome 3: MedlinePlus Genetics
Chromosome 3 spans about 198 million base pairs (the building blocks of DNA) and represents approximately 6.5 percent of the ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 3, one copy inherited from ... which occurs when a chromosome breaks in two places and the ends of the chromosome arms fuse together. When the ring chromosome ... Ensembl Human Map View: Chromosome 3. *Glassford MR, Rosenfeld JA, Freedman AA, Zwick ME, Mulle JG; Unique Rare Chromosome ...
Pituitary Dwarfism | Encyclopedia.com
The human cell contains 46 chromosomes arranged in 23 pairs. Most of the genes in the two chromosomes of each pair are ... The human cell contains 46 chromosomes arranged in 23 pairs. Most of the genes in the two chromosomes of each pair are ... The human cell contains 46 chromosomes arranged in 23 pairs. Most of the genes in the two chromosomes of each pair are ... Human Growth Hormone , Human growth hormone Human growth hormone (GH), also called somatotropin, is a protein that stimulates ...
Six Things Everyone Should Know About Genetics| ASHG
Genes reside on chromosomes. If a gene is like a chapter in a book, the chromosome is the book itself. Proteins and RNA ... The human genome has 3 billion pairs of bases. The order of these nucleotides are critical to the accuracy of the instructions ... The number of human genes is about 20,000-25,000. Different genes can vary in length and cover thousands of bases. ... Our mission is to advance human genetics in science, health, and society through excellence in research, education, and ...
Greater Than 98% Chimp/Human DNA Similarity? Not Any More. | Answers in Genesis
... similarity of DNA between chimp and humans is incorrect. ... Humans have 23 pairs of chromosomes while chimpanzees have 24. ... While 18 pairs of chromosomes are virtually identical, chromosomes 4, 9 and 12 show evidence of being remodeled.5 In other ... Evolutionary scientists believe that one of the human chromosomes has been formed through the fusion of two small chromosomes ... The Y chromosome in particular is of a different size and has many markers that do not line up between the human and chimpanzee ...
topic:"Chromosomes, Human, Pair 9 - genetics" found 36 records • Arctic Health
Chromosomes, Human, Pair 13 - genetics Chromosomes, Human, Pair 9 - genetics Genes, Recessive Genetic Linkage Humans Phenotype ... Chromosomes, Human, Pair 11 - genetics Chromosomes, Human, Pair 9 - genetics Female Finland Genetic markers Genetic ... Chromosomes, Human, Pair 9 - genetics Cohort Studies DNA Mutational Analysis De Lange Syndrome - genetics Female Humans Male ... Chromosome Mapping Chromosomes, Human, Pair 9 - genetics Comorbidity Genetic Linkage Genetic markers Genetic Predisposition to ...
French find short cut to map of human genome | New Scientist
The researchers in Paris who invented the technique say they will have mapped about 90 per cent of the human genetic ... International efforts to decode the human genome will be speeded up dramatically by a powerful new technique for handling long ... chromosome that can store up to one million base pairs of DNA. The French. map of chromosome 21 is spread over 250 megaYACs. A ... Building physical maps of chromosomes out of cloned stretches of human. DNA is a key first goal of the international genome ...
A Science Odyssey:Resources: Camp-in Curriculum: Genetics
We now know that in the center of every cell are pairs of chromosomes. Each chromosome is a tightly wound thread of DNA. These ... They have already charted over 2,300 of the suspected 100,000 genes that make up the human genome.. Benchmarks for Science ... A new person starts as just one tiny cell with 23 pairs of chromosomes containing a unique mixture of genes. As the person ... Genes have from a few hundred pairs to many thousands of pairs of As, Ts, Cs, and Gs joined together in a precise code that is ...
'DNA Transistor' Could Revolutionize Genetic Testing |...
For humans, the complete genome contains about 20,000 genes on 23 pairs of chromosomes. ... In comparison, the first complete sequencing of a human genome, done by the Human Genome Project, cost about $3 billion when it ... "If we could have a big enough database of human genomes then you can see the interplay of genetics. That would change how we ... A nanometer is one one-billionth of a meter or about 100,000 times smaller than the width of a human hair. ...
How Sex is Determined by Genetics
Two X chromosomes produce a female, and one X and one Y chromosome produce a male. When a baby is conceived, it receives one X ... chromosome from the mother and either an X or a Y chromosome from the father. ... Gender or sex is determined in humans genetically by one pair of chromosomes out of a total of 23 pairs. ... The human organism contains threadlike, gene-bearing chromosomes, twenty three pairs of them. These chromosomes contain the ...
Histone - Wikipedia
... each human diploid cell (containing 23 pairs of chromosomes) has about 1.8 meters of DNA; wound on the histones, the diploid ... This involves the wrapping of DNA around nucleosomes with approximately 50 base pairs of DNA separating each pair of ... of the human genome in five human cell lines". Genome Research. 17 (6): 691-707. doi:10.1101/gr.5704207. PMC 1891331. PMID ... is a transcription factor which activates histone gene transcription on chromosomes 1 and 6 of human cells. NPAT is also a ...
IJMS | Free Full-Text | Hyaluronan and Fibrin Biomaterial as Scaffolds for Neuronal Differentiation of Adult Stem Cells...
The normal human karyotype contains 22 pairs of autosomal chromosomes and one pair of sex chromosomes. Normal karyotypes for ... The chromosomes are depicted (by rearranging a microphotograph) in a standard format known as a karyogram: in pairs, ordered by ... Chromosome Stability. Chromosome stability of cell cultures has been detected by means of the karyotipe analyses. The karyotype ... Characterization of human adult stem-cell populations isolated from visceral and subcutaneous adipose tissue. FASEB J 2009, 23 ...
Chromosome 16 open reading frame 13 - Wikipedia
C16orf13 is located on the short arm of chromosome 16 in humans, in the thirteenth open reading frame. There are five ... The primary transcript of this gene is 1,919 base pairs long. Using the Dotlet program, a dot plot was constructed comparing ... "Human PubMed Reference:". "Mouse PubMed Reference:". "C16orf13 - UPF0585 protein C16orf13 - human protein (Identifiers)". ... Chromosome 16 open reading frame 13, also called C16orf13, is a protein-coding gene of unknown function, also known as JFP2. ...
Chapter 3: Human Development (AP) by Anne Ginnett on Prezi
Human Development. Gene characteristics from parents to their children. Chromosomes: 46 segments of DNA containing genes. Small ... Recessive gene: the genes feature will appear only if it is paired with another recessive gene. Still only 25% chance trait ... Human Development. Chapter 3. I-message: tells children the effect their behavior had on you (use this). You-message: threats, ... Chromosomes: 46 segments of DNA containing genes. 23 come from mother and 23 come from father. Heredity ("Nature"). Study of ...
Chromosome 3 Related Diseases
... of the genetic material in the human genome and spans almost 200 million base pairs, the building blocks of DNA. ... The third largest of the 23 pairs of chromosomes found in human cells is chromosome 3. It represents around 6.5% to 7% ... The third largest of the 23 pairs of chromosomes found in human cells is chromosome 3. It represents around 6.5% to 7% of the ... genetic material in the human genome and spans almost 200 million base pairs, the building blocks of DNA. ...
Evolution and the Bible | Xenos Christian Fellowship
In humans, there are a total of 46 chromosomes, half of which come from each parent. Chromosomes come in pairs. We have 23. 22 ... A piece of DNA that is 10bp long has 10 base pairs in it. Likewise, a gene that is 2Kb long has 2,000 base pairs. The human ... Base "A" always pairs with "T," and "G" always pairs with "C." Base pairs are also used as a unit of measure to indicate a ... Human evolution (that humans are descended from non-human animals by an evolutionary process of mutation and natural selection ...
Chromosome. A chromosome is like a packet of coiled up DNA. Humans have 23 pairs of chromosomes. They are in the nucleus of ... A year after her birth it was discovered that the telomeres at the end of her chromosomes were shorter than would be expected ... Telomeres are distinctive structures which are found at the end of our chromosomes, made up of a short, repeating sequence of ... They protect the ends of the chromosomes and every time a cell divides, the telomeres are shortened, losing between 25-200 ...
DNA AND PROTEIN
Inside each cell are tens of thousands of such genes, grouped into 23 pairs of chromosomes. ... WHY ONLY THE L FORM You might wonder why the D form of protein would not work equally well in humans and animals. The problem ... Inside the chromosomes are genes. The genes are attached to chromosomes like beads on a chain. Inside the genes is the ... In the nucleus of each cell are 46 chromosomes. In the chromosomes of each cell are about 10 billion of those DNA ladders. ...
Chromosome 3 (human) - Wikipedia
See also: Category:Genes on human chromosome 3. The following is a partial list of genes on human chromosome 3. For complete ... Partial list of the genes located on p-arm (short arm) of human chromosome 3: ALAS1: aminolevulinate, delta-, synthase 1 APEH: ... The following are some of the gene count estimates of human chromosome 3. Because researchers use different approaches to ... People normally have two copies of this chromosome. Chromosome 3 spans almost 200 million base pairs (the building material of ...
Book Quizzes Online, Trivia, Questions & Answers - Page 3 by ProProfs
GeneDeletionAutosomesShort arm of chromosomeSets of chromosomesCellsChromosomalHomologous chromosomesBillion base pairsNucleotidesTotal of 47 chromosomesOrganismNucleusDiploidProteinsSequenceCopies of chromosome 21Another chromosomeHalf the number of chromosomesOrganismsMillion base pairsHistonesLong arm of chromosomeKilobasesCell'sLoss of heterozygosGenes on each chromosomeStructures21stCell dividesMeiosisScientistsChimpanzeeSequencesEvolutionarySpermStrandsRegion of chromosomeMale sexTrisomyBacterial artificialGenome Project2017LocusChimpanzeesHaploid genomeExtra chromosomeDescriptorMammalianThousands of genesGreat apesDeletionsSomatic cell20,0001998Person's1000Embryonic1994RecombinationHybridizationMutationsGenetic materialArtificialTightlyMicrocell-mediatedDeterminesBaseTwenty three pairs
- The following are some of the gene count estimates of human chromosome 3. (wikipedia.org)
- Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction ). (wikipedia.org)
- So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (wikipedia.org)
- We report several different mutations of the gene (AGPAT2) encoding 1-acylglycerol-3-phosphate O-acyltransferase 2 in 20 affected individuals from 11 pedigrees of diverse ethnicities showing linkage to chromosome 9q34. (nih.gov)
- Assignment of the human stromelysin 3 (STMY3) gene to the q11.2 region of chromosome 22. (biomedsearch.com)
- The human stromelysin 3 (STMY3) gene, a new member of the matrix metalloproteinase (MMP) gene family, may contribute to breast cancer cell invasion, and has been localized by in situ hybridization to the long arm of chromosome 22. (biomedsearch.com)
- Using two additional chromosome 3 markers we were able to map the OPA1 gene in the region between D3S1314 and D3S1265 (3q28-qter). (biomedsearch.com)
- Technical advances that enable larger stretches of human DNA to be introduced into mice allow not only for introduction of large genes or gene clusters but also correct expression of transgenes by inclusion of essential remote regulatory elements ( 1 ). (pnas.org)
- If a gene is like a chapter in a book, the chromosome is the book itself. (ashg.org)
- The term gene was accepted as a description of the genetic mechanism located in the chromosome. (pbs.org)
- Genes have from a few hundred pairs to many thousands of pairs of As, Ts, Cs, and Gs joined together in a precise code that is unique to each gene. (pbs.org)
- The human organism contains threadlike, gene-bearing chromosomes, twenty three pairs of them. (brighthub.com)
- Chromosome 16 open reading frame 13, also called C16orf13, is a protein-coding gene of unknown function, also known as JFP2. (wikipedia.org)
- Underexpression of this gene has also been linked to disease consequences in humans. (wikipedia.org)
- The primary transcript of this gene is 1,919 base pairs long. (wikipedia.org)
- Using the Dotlet program, a dot plot was constructed comparing the Human gene with its Chimpanzee ortholog. (wikipedia.org)
- The plot indicates sequence conservation at the beginning and end of the gene, suggesting conservation and similarity in the 5' and 3' untranslated regions. (wikipedia.org)
- This sequence similarity in the 5' UTR and 3' UTR does not extend past mammalian species, and shows almost no similarity in a Dot Plot of the Human gene with distantly related species, such as Xenopus tropicalis. (wikipedia.org)
- Near the start of transcription site in the human C16orf13 gene, there is high conservation among the primates in which upstream data was available, specifically the human, orangutan, and rhesus monkey C16orf13 gene orthologs. (wikipedia.org)
- The human expression profile from NCBI UniGene suggests that this gene has widespread expression in many different tissues in the body. (wikipedia.org)
- The C16orf13 gene is located near the end of chromosome 16, potentially subject to deletion mutations. (wikipedia.org)
- CRBN cereblon [Homo sapiens (human)] - Gene - NCBI Genome Decoration Page, NCBI. (wikipedia.org)
- The terms chromosome and gene were used long before biologists really understood what these structures were. (encyclopedia.com)
- The Watson and Crick discovery made it possible to express biological concepts (such as the gene) and structures (such as the chromosome) in concrete chemical terms. (encyclopedia.com)
- The generation of animal models that accurately recapitulate these types of genetic lesions will facilitate the study of human disease, and this will eventually enable the definition of specific gene-function relationships in these clinical syndromes. (genetics.org)
- In humans, a single gene may be on average around 10 to 50 thousand base pairs long. (bartleby.com)
- MEX3C (Mex-3 RNA Binding Family Member C) is a Protein Coding gene. (genecards.org)
- This study identifies the DYT1 gene on human chromosome 9q34 as being responsible for this dominant disease. (nih.gov)
- Scientists have identified a pair of treatments that may restore brain function to autism patients who lack a gene critical to maintaining connections between neurons, according to a study from the Peter O'Donnell Jr. Brain Institute at UT Southwestern Medical Center. (news-medical.net)
- It is the presence or the absence of the SRY gene (sex determining region of the Y chromosome) that determines which way the embryo will develop. (brighthub.com)
- However, because VHL mutations have not been detected in sporadic pheochromocytomas, VHL and/or another chromosome arm 3p gene may be involved in the etiology of these tumors. (elsevier.com)
- The gene science community has made leaps and bounds in the last two decades since the start of the Human Genome Project and the discovery of techniques to rapidly sequence DNA, but it still has a long way to go. (hackaday.com)
- We have cloned and characterized the Na,K-ATPase β3 subunit gene (ATP1B3), and a β3 subunit pseudogene (ATP1B3P1), from a human PAC genomic library. (elsevier.com)
- Comparison of the promoter region of the human and mouse β3 subunit gene reveals a high degree of homology within a 300-bp segment located immediately upstream of the translation start site, suggesting that control elements that serve to regulate the cell-specific expression of the β3 subunit gene are likely to be located within this conserved region. (elsevier.com)
- Each gene is composed of 2 alternative copies known as alleles, one originating from the maternally derived chromosome and the other originating from the paternally derived chromosome of each chromosome pair. (aappublications.org)
- Efficient studies of long-distance Bmp5 gene regulation using bacterial artificial chromosomes. (nih.gov)
- Here we describe the use of bacterial artificial chromosome clones to rapidly survey hundreds of kilobases of DNA for potential regulatory sequences surrounding the mouse bone morphogenetic protein-5 (Bmp5) gene. (nih.gov)
- The CF gene is found on chromosome number 7. (rchsd.org)
- Scientists don't know exactly why the CF gene evolved in humans, but they have some evidence to show that it helped to protect earlier generations from the bacteria that cause cholera, a severe intestinal infection. (rchsd.org)
- In sexually reproducing organisms, each gene in an individual is represented by two copies, called alleles -one on each chromosome pair. (creationwiki.org)
- The patient's sequencing data showed a 1-Mb loss of heterozygosity region in chromosome 4, including the LRBA gene. (frontiersin.org)
- Yo will use chromosome and gene models to create four offspring and determine their genotypes and phenotypes. (biologycorner.com)
- The app finds the gene on one of the 23 human chromosomes, displaying an interactive image of its precise location among the genome's 3 billion base pairs. (eurekalert.org)
- One part of chromosome 3 contains the gene for the protein p63. (innovationtoronto.com)
- 2010. Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content. (answers.com)
- Artificial chromosomes, which harbor hundreds of kilobases of genomic DNA, preserve a large sequence landscape containing most, if not all, regulatory elements controlling the expression of a particular gene. (physiology.org)
- The completion of the sequencing phase of the Human Genome Project has provided important raw data for the mining of regulatory elements governing the expression profile of a gene ( 54 ). (physiology.org)
- An important outgrowth of the Human Genome Project that has assisted investigators in defining the boundaries of genomic DNA necessary for the complete expression of a particular gene has been the development of artificial chromosomes ( 4 , 50 ). (physiology.org)
- 3p deletion syndrome is caused by the deletion of the end of the small (p) arm of chromosome 3. (medlineplus.gov)
- The size of the deletion varies among affected individuals, from approximately 150,000 DNA building blocks (base pairs) to 11 million base pairs and can include 4 to 71 known genes. (medlineplus.gov)
- In some individuals, the deletion involves material near the end of the chromosome but does not include the tip (the telomere). (medlineplus.gov)
- 3q29 microdeletion syndrome is a condition that results from the deletion of a small piece of chromosome 3 in each cell. (medlineplus.gov)
- Almost all cases of early-onset dystonia have a unique 3-bp deletion that appears to have arisen idependently in different ethnic populations. (nih.gov)
- This deletion results in loss of one of a pair of glutamic-acid residues in a conserved region of a novel ATP-binding protein, termed torsinA. (nih.gov)
- Patients have a 3 million base pair deletion of one copy of chromosome 22q11.2. (yu.edu)
- 16p11.2 deletion syndrome is caused by a deletion of about 600,000 base pairs, also written as 600 kilobases (kb), at position 11.2 on the short (p) arm of chromosome 16. (nih.gov)
- This deletion affects one of the two copies of chromosome 16 in each cell. (nih.gov)
- A 16p11.2 duplication is an extra copy of the same 600 kb segment of chromosome 16 that is missing in 16p11.2 deletion syndrome (described above). (nih.gov)
- In particular, studies indicate that individuals with a 16p12.2 microdeletion who have neurological or behavioral problems often have an additional, larger deletion or duplication affecting another chromosome. (nih.gov)
- It can be caused by a deletion of genetic material on chromosome 16 in a region known as 16q24.1. (nih.gov)
- Children with a deletion of a portion of the long arm of one of the two copies of chromosome 18 (18q) have numerous neurologic deficiencies ( 1 ), with a high incidence of dysmyelination of about 95%, as reported from MR imaging studies ( 2 ). (ajnr.org)
- This finding suggested that either one copy of the paternal chromosome 4 bore a deletion including the LRBA locus, or the patient inherited two copies of the mutant maternal LRBA allele. (frontiersin.org)
- An example of disorder caused by deletion is Wolf-Hirschhorn Syndrome which occurs due to partial deletion of the short arm of chromosome 4. (bartleby.com)
- Of the 46 chromosomes in each human cell except sperm and egg cells (which have only half that number), 44 are non-sex chromosomes or "autosomes. (brighthub.com)
- For example, the human genome has approximately six billion base pairs (6 Gbp) in 46 chromosomes (22 paired autosomes + sex chromosomes). (scienceblogs.com)
- Scientists believe that the modern Y chromosome evolved from the autosomes and slowly specialized into functioning as a sex determining agent. (brighthub.com)
- 22 pairs are considered autosomes, and the other pair are the sex chromosomes-either XY for a boy and XX for a girl. (verywell.com)
Short arm of chromosome2
Sets of chromosomes3
- When these two special cells merge together, the two half sets of chromosomes combine to produce a fertilized egg or seed. (pbs.org)
- Diploid - cell/organism that contains two sets of chromosomes. (csbsju.edu)
- In reality every cell has two sets of chromosomes, so nearly every human cell has 1.5GB of data shoved inside. (hackaday.com)
- Chromosome 3 spans almost 200 million base pairs (the building material of DNA ) and represents about 6.5 percent of the total DNA in cells . (wikipedia.org)
- In the resultant double-Tc/double-knockout mice, substantial proportion of the somatic cells retained both hCFs, and the rescue in the defect of Ig production was shown by high level expression of human Ig heavy and κ chains in the absence of mouse heavy and κ chains. (pnas.org)
- In our previous study ( 7 ), various hCFs were introduced into mouse embryonic stem (ES) cells via microcell-mediated chromosome transfer, and viable chimeric mice were produced from them. (pnas.org)
- This division, meiosis, results in cells that have half the number of chromosomes as the original cell. (pbs.org)
- When the diploid cells are duplicated and condensed during mitosis , the result is about 120 micrometers of chromosomes . (wikipedia.org)
- Indeed, stem cells seem to give the best chance for human tissue engineering, and particularly, mesenchymal stem cells (MSCs) represent a great tool in regenerative medicine because of their ability to differentiate into a variety of specialized cells in addition to their immuno-privileged characteristics [ 1 , 2 ]. (mdpi.com)
- The third largest of the 23 pairs of chromosomes found in human cells is chromosome 3. (news-medical.net)
- COILED STRIPS (*#3/33 The Origin of DNA*) Your own DNA is scattered all through your body in about 100 thousand billion specks , which is the average number of living cells in a human adult. (jesus-is-savior.com)
- The human body has nearly 1013 cells. (cdc.gov)
- Each cell (except for red blood cells) contains a nucleus that houses these chromosomes. (cdc.gov)
- A chromosome is a structure that occurs within cells and that contains the cell's genetic material. (encyclopedia.com)
- In prokaryotes, or cells without a nucleus, the chromosome is merely a circle of DNA. (encyclopedia.com)
- In eukaryotes, or cells with a distinct nucleus, chromosomes are much more complex in structure. (encyclopedia.com)
- To begin to define functional information for a small portion of chromosome 11 , deficiencies, duplications, and inversions were constructed in embryonic stem cells with sizes ranging from 1 Mb to 22 cM. (genetics.org)
- Alterations in chromosomes also occur spontaneously in somatic cells during the life of the organism, and these alterations are usually less of a problem to the organism. (genetics.org)
- It is based on microcell mediated transfer of human chr3 into mouse or human tumor cells and analysis of the monochromosomal hybrids after their growth in vivo. (dissertations.se)
- Introduction All living organisms are composed of cells, each no wider than a human hair. (nap.edu)
- Each of our cells contains the same complement of DNA constituting the human genome (Figure 1-1. (nap.edu)
- The DNA sequence of every person's genome is the blueprint for his or her development from a single cell to a complex, integrated organism that is composed of more than 10~3 (10 million million) cells. (nap.edu)
- During mitosis, the nucleus divides resulting in two daughter cells each with the same chromosome number as the parent. (csbsju.edu)
- If a parental cell has 1000 chromosomes, or even just 1 chromosome, the daughter cells have 1000 and 1 chromosomes, respectively, after mitosis. (csbsju.edu)
- Mitosis results in daughters with the same chromosome number as the parental cells. (csbsju.edu)
- This extra copy of chromosome 21 is present in the cells of the body and is responsible for the typical features of Down syndrome. (mydr.com.au)
- Chromosome 16 spans about 89 million base pairs (the building blocks of DNA) and represents almost 3 percent of the total DNA in cells. (news-medical.net)
- The findings could lead to answers to questions concerning the mechanisms leading to birth defects and chromosome instability in cancer cells. (news-medical.net)
- In children with mosaic Down syndrome, not all cells have 3 copies of chromosome 21. (verywell.com)
- The symptoms that a child has will depend on the percent of cells in the body which have the extra chromosome. (verywell.com)
- This is the means by which a human being produces haploid (containing only 23 chromosomes) sex cells, or gametes. (thefreelibrary.com)
- 3 Special cells, sperm and egg cells, are used in sexual reproduction. (edhelper.com)
- Cells formed through meiosis have only half the number of chromosomes or genetic material of the parent cell. (edhelper.com)
- For example, most cells of fruit flies have eight chromosomes, arranged as four similar pairs. (edhelper.com)
- But the egg or sperm cells of a fruit fly have only four chromosomes. (edhelper.com)
- But human egg and sperm cells only have twenty-three chromosomes. (edhelper.com)
- Chromosome 16 spans more than 90 million DNA building blocks (base pairs) and represents almost 3 percent of the total DNA in cells. (nih.gov)
- By replacing select nucleo-tides-the ACGTs of life, which are scattered throughout the chromosomes-and changing, say, a T to an A or a C to a G in a process called recoding, Church envisions being able to make cells resistant to viruses. (wired.com)
- Church and others who are working to synthesize human DNA have created their own effort within GP-Write-the Human Genome Project-Write, or HGP-Write-and its prospects for success have biologists abuzz over the potential for treating diseases and for creating bioengineered cells and possibly even organs. (wired.com)
- Theoretically, scientists could one day manufacture genomes, human or otherwise, almost as easily as writing code on a computer, transforming digital DNA on someone's laptop into living cells of, say, Homo sapiens . (wired.com)
- Cells that have 2 copies of each chromosome- All cells (except gametes) have 2 copies of each of the 23 chrom. (coursehero.com)
- 3. Describe the major events of cell division that enable the genome of one cell to be passed on to two daughter cells. (coursehero.com)
- State which cells in the human body are diploid and which are haploid. (coursehero.com)
- With the potential to give rise to all somatic cell types, human embryonic stem cells (hESC) have generated enormous interest as agents of cell replacement therapy. (pnas.org)
- Human embryonic stem cells (hESCs) ( 1 ) can be maintained in culture in a self-renewing state and differentiate into all three embryonic germ layers ( 2 ). (pnas.org)
- The maturation of germ line stem cells into gametes requires that the diploid number of each chromosome be reduced by half. (creationwiki.org)
- The modal chromosome number was 64, occurring in 30% of cells. (sigmaaldrich.com)
- er(12)t(8;12) (q22;p13) and four other marker chromosomes were common to most cells. (sigmaaldrich.com)
- Noticeably in addition to three copies of X chromosomes, there were paired Xq+ and a single Xp+ in most cells. (sigmaaldrich.com)
- The early human embryo contains many stem cells. (abpischools.org.uk)
- Mouse 3T3 fibroblast cells are extensively used as feeder layers to enhance the cultivation of human keratinocyte in vitro. (google.es)
- Within cells, DNA is organized into structures called chromosomes . (newworldencyclopedia.org)
- These chromosomes are duplicated before cells divide, in a process called DNA replication. (newworldencyclopedia.org)
- The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 3. (medlineplus.gov)
- Chromosome engineering in mice enables the construction of models of human chromosomal diseases and provides key reagents for genetic studies. (genetics.org)
- ONE of the most common causes of human developmental disorders and fetal loss are chromosomal abnormalities such as inversions, duplications, deficiencies, translocations, and nondisjunction. (genetics.org)
- A chromosomal disorder is a chromosome anomaly, abnormality, or aberration is a missing, extra, or irregular portion of chromosomal DNA. (majortests.com)
- We report here the use of fluorescent in situ hybridization to examine the chromosomal complement of interphase neuronal nuclei in the adult human brain. (jneurosci.org)
- People with this chromosomal abnormality are missing a sequence of about 520,000 base pairs, also written as 520 kb, at position p12.2 on chromosome 16. (nih.gov)
- Down Syndrome is the most common example of a trisomy chromosomal abnormality among humans. (bartleby.com)
- 2. identify examples of inversion in homologous chromosomes. (indiana.edu)
- Homologous chromosomes - matching chromosomes in a diploid cell. (csbsju.edu)
- Homologous chromosomes pair during meiosis (not during mitosis). (csbsju.edu)
- 1. Prophase I--homologous chromosomes (each is composed of 2 chromatids) come together as pairs, a complex of 4 chromosomes known as a tetrad. (thefreelibrary.com)
- The term diploid describes a state in which a cell has two sets of homologous chromosomes, or two chromosomes that are the same. (creationwiki.org)
- Hence, gametes are said to be haploid-having only a single set of homologous chromosomes. (creationwiki.org)
Billion base pairs5
- 3 billion base pairs of the human genome would require more than 30 000 megaYACs, says Cohen. (newscientist.com)
- The human genome, with 3 billion base pairs can store up to 750MB of data. (hackaday.com)
- The human genome contains approximately 3 billion base pairs (bps) of DNA, which are organized in 23 chromosomes. (frontiersin.org)
- A human DNA strand has 3 billion base pairs. (worldofweirdthings.com)
- The human haploid genome contains 3 billion base pairs and has between 20,000 and 25,000 functional genes. (oercommons.org)
- In this formula, the abbreviations N 1 , N 2 , N 3 , and N 4 stand for the four different nucleotides used in making DNA. (encyclopedia.com)
- Unprecedented advances in molecular and cellular biology, in bio- chemistry, in genetics, and in structural biology-occurring at an accelerating rate over the past decade define this as a unique and opportune moment in our history: For the first time we can envision obtaining easy access to the complete sequence of the 3 billion nucleotides in human DNA and deciphering much of the information contained therein. (nap.edu)
- When the cell divides, the whole chromosomes split in half, and then nucleotides that pair with the half-chain combine with the strand to make two complete copies. (hackaday.com)
- Approximately 3 billion pairs of nucleotides are in the chromosomes of a human cell, and each person's genetic makeup has a unique sequence of nucleotides. (kidshealth.org)
- The Ad insert was shown to consist of a colinear segment from nucleotides 1 to 4344 integrated into chromosome 19 (19q13.2). (sigmaaldrich.com)
Total of 47 chromosomes3
- Klinefelter's syndrome is a genetic disorder in which there is at least one extra x chromosome to a normal human male karyotype, for a total of 47 chromosomes. (healthtap.com)
- It is a genetic disorder in which there is an extrax chromosome for a total of 47 chromosomes, and happens in 1in500to1in1000live male births it causes hypogonadism (decrease testosterone ), less muscular body, less facial and body hair , broader hips and teenagers10% have gynecomastia (large breasts), weaker bones and low energy the genetic variation is not reversible.With ivf technology10%successful preg. (healthtap.com)
- An individual who suffers from Down Syndrome, also known as Trisomy 21 would have three copies of chromosome 21 instead of the usual two, resulting in a total of 47 chromosomes. (bartleby.com)
- Mendel hypothesized that each organism has a pair of factors that determine each trait. (pbs.org)
- Combine to make a diploid cell (n+ n =2n) -"fertilized egg" Examples of chromosome counts in other organisms Organism n (haploid number) 2n (diploid number) Humans 23 46 Gorillas 24 48 Dogs 39 78 Shrimp 127 254 Sweet potatoes 45 90 # of chrom. (coursehero.com)
- To summarize, in diploid organisms, chromosomes come in pairs. (csbsju.edu)
- Each diploid cell with 46 chromosomes contains 6 billion bps of DNA. (frontiersin.org)
- This reduction is accomplished through a process called meiosis , where one chromosome in a diploid pair is sent to each daughter gamete. (creationwiki.org)
- Chromosome 3 likely contains 1,000 to 1,100 genes that provide instructions for making proteins. (medlineplus.gov)
- During mitosis and meiosis, the condensed chromosomes are assembled through interactions between nucleosomes and other regulatory proteins. (wikipedia.org)
- Today we know that a chromosome contains a single molecule of DNA along with several kinds of proteins. (encyclopedia.com)
- Chromosomes are packages of DNA, wound around proteins called histones. (creation.com)
- This protein has homologues in nematode, rat, mouse and humans, with some resemblance to the family of heat-shock proteins and Clp proteases. (nih.gov)
- Within the chromosomes, chromatin proteins such as histones compact and organize DNA, which helps control its interactions with other proteins and thereby control which genes are transcribed. (newworldencyclopedia.org)
- Stanford researcher Stephen Quake recently showed the Heliscope Single Molecule Sequencer that can sequence a human genome in about four weeks at a cost of $1 million. (wired.com)
- Telomeres are distinctive structures which are found at the end of our chromosomes, made up of a short, repeating sequence of DNA bases. (abpischools.org.uk)
- Encoded in the DNA sequence are fundamental determinants of those mental capacities- learning, language, memory essential to human culture. (nap.edu)
- To understand the reasons for varied severity, we are analyzing whole genome sequence from human subjects with 22q11.2DS to identify genetic modifiers. (yu.edu)
- Using these DNA samples, the researchers scanned the same small section of chromosome 3 for SNPs that differed in sequence between individuals with and without coronary heart disease. (science20.com)
- He and his team want to use the Y chromosome sequence from an actual person's genome: mine. (wired.com)
- Not only has Genome Reference Consortium build 38 (GRCh38) eliminated some pesky previous gaps, it will be the first human reference assembly to have sequence information for centromeres. (nature.com)
- Long and accurate polymerase chain reaction, sequencing, and in silico analyses facilitated the complete sequence annotation of a BAC harboring human SM-Calp (hSM-Calp). (physiology.org)
Copies of chromosome 212
- This process results in 3 copies of chromosome 21, but one copy is attached to another chromosome, often chromosome 14. (verywell.com)
- When these parents have children, however, the babies end up with 3 copies of chromosome 21, but unlike nondisjunction trisomy, the extra chromosome is attached to another chromosome. (verywell.com)
Half the number of chromosomes1
Million base pairs6
- Most people with 3q29 microdeletion syndrome are missing about 1.6 million base pairs, also written as 1.6 megabases (Mb), on the long (q) arm of the chromosome at a position designated q29. (medlineplus.gov)
- The technology propelling the French effort is the 'megaYAC', an artificial chromosome that can store up to one million base pairs of DNA. (newscientist.com)
- It represents around 6.5% to 7% of the genetic material in the human genome and spans almost 200 million base pairs, the building blocks of DNA. (news-medical.net)
- The Y chromosome is made up of some 58 million base pairs and more than 95% of it is male specific. (brighthub.com)
- Up until now, centromeres, which are specialized structural components of chromosomes, have been represented in the reference by gaps of 3 million base pairs. (nature.com)
- The Plasmodium falciparum genome, which consists of 24 million base pairs of DNA is divided into 14 chromosomes- compared to 23 in the human genome. (sanger.ac.uk)
- Without histones, the unwound DNA in chromosomes would be very long (a length to width ratio of more than 10 million to 1 in human DNA). (wikipedia.org)
- In animals, genes encoding canonical histones are typically clustered along the chromosome, lack introns and use a stem loop structure at the 3' end instead of a polyA tail. (wikipedia.org)
- The protruding N-terminal tails of histones undergo post-translational chemical modifications including but not limited to acetylation (ac), methylation (me), phosphorylation (P), ubiquitination (ubi), and SUMOylation (SUMO) ( 3 , 4 ). (frontiersin.org)
Long arm of chromosome1
- Chimpanzees and other apes have about 23 kilobases (a kilobase is 1,000 base pairs of DNA) of repeats. (answersingenesis.org)
- Humans are unique among primates with much shorter telomeres only 10 kilobases long. (answersingenesis.org)
- We introduce high-throughput and massive paired-end mapping (PEM), a large-scale genome-sequencing method to identify structural variants (SVs) ∼3 kilobases (kb) or larger that combines the rescue and capture of paired ends of 3-kb fragments, massive 454 sequencing, and a computational approach to map DNA reads onto a reference genome. (sciencemag.org)
- 2) Chimpanzees and other apes have telomeres about 23 kilobases long, whereas humans are completely unique among primates with much shorter telomeres only 10 kilobases long. (answers.com)
Loss of heterozygos1
- We examined 14 pheochromocytomas (four from VHL patients, nine from sporadic patients, and one from a patient with familial pheochromocytoma) for loss of heterozygosity on chromosome arm 3p by using the polymerase chain reaction and restriction fragment length polymorphisms at eight loci. (elsevier.com)
Genes on each chromosome2
- Usually, we humans have 23 pairs of chromosomes - the threadlike structures containing our DNA and genes. (mydr.com.au)
- The information molecule, the DNA, is tightly packed into structures called chromosomes which are responsible for carrying over the information from the parent to the offspring. (brighthub.com)
- The cell which receives 2 copies of the 21st chromosome is responsible for Down's syndrome. (verywell.com)
- In other words, the baby (the parent that is) ends up with 45 chromosomes, but lives and functions normally because all of the genetic material required on the 21st chromosome is still present. (verywell.com)
- In Jul 1958, while examining the chromosomes of a so-called "Mongol" child, Lejeune discovered the existence of an extra chromosome on the 21st pair. (todayinsci.com)
- Three copies of the 21st chromosome is Trisomy-21, also called Downs Syndrome. (danielwillingham.com)
- For the first time, scientists are mapping the coast redwood's genome, a genetic code 12 times larger than that of a human being. (washingtonpost.com)
- Evolutionary scientists believe that one of the human chromosomes has been formed through the fusion of two small chromosomes in the chimp instead of an intrinsic difference resulting from a separate creation. (answersingenesis.org)
- Scientists have prepared a human-chimpanzee comparative clone map of chromosome 21 in particular. (answersingenesis.org)
- It has also been shown that regions of the Y chromosome are constantly being lost by either deletions or recombination which might - so some scientists believe - eventually wipe out the male species from the human race. (brighthub.com)
- Although such genetic happenings are common on the Y chromosome, scientists have also identified regions which contain palindromic sequences which seem to help the Y chromosome retain its active functions. (brighthub.com)
- Scientists believe that every human has about 25,000 genes per cell. (kidshealth.org)
- Scientists found that certain growth and fertility problems could be corrected with this therapy, which led them to think that the same could be true for humans. (kidshealth.org)
- His plan is to design and build long chains of human DNA, not solely by cutting and pasting small fixes-a now-routine practice, thanks to recent technologies like Crispr that let scientists edit DNA cheaply and easily-but by rewriting critical stretches of chromosomes that can then be stitched together with a naturally occurring genome. (wired.com)
- A major breakthrough in the fight against malaria is announced today (3 October 2002) by an international collaboration of scientists in the UK and America. (sanger.ac.uk)
- 5 In other words, the genes and markers on these chromosomes are not in the same order in the human and chimpanzee. (answersingenesis.org)
- The Y chromosome in particular is of a different size and has many markers that do not line up between the human and chimpanzee. (answersingenesis.org)
- Human and Chimpanzee Karyotypes packet (four figures: 2a-2d) on 4 pages. (indiana.edu)
- Divergence between samples of chimpanzee and human DNA sequences is 5% counting indels. (answers.com)
- 2002. 'Construction and analysis of a Human-Chimpanzee Comparative Clone Map. (answers.com)
- In addition, the constant region of the human IgH locus is known to contain sequences difficult to be cloned ( 6 ). (pnas.org)
- This chromosome segment is normally surrounded by short, repeated sequences of DNA that make it prone to rearrangement during cell division. (medlineplus.gov)
- At the end of each chromosome is a string of repeating DNA sequences called a telomere. (answersingenesis.org)
- Consequently, breakpoint junction sequences of a limited number of SVs and/or CNVs have been reported ( 2 , 3 , 11 ). (sciencemag.org)
- Upcoming versions of the app will provide access to genome sequences of over three dozen non-human species, including dogs, cats, mice, chimpanzees, elephants, and 11 species of fruit fly, plus further improvements in the touch interface. (eurekalert.org)
- Inference of human population history from individual whole-genome sequences. (psu.edu)
- Regarding the creation of humans, we propose that a faithful reading of Genesis one and two allows for an evolutionary origin for Adam's body, but evolution cannot explain the origin of spiritual life. (xenos.org)
- We will demonstrate that scripture is compatible with an evolutionary view of the origin of life, including, with exceptions, the origin of human life. (xenos.org)
- Possible evolutionary relationships are explored, as are the chromosomes and relationships of other apes. (indiana.edu)
- 3. Predictions of similarities of chromosomes, based on the assumption of evolutionary relationships, can be tested. (indiana.edu)
- 3. demonstrate their understanding that degrees of similarities in chromosomes correspond to degrees of evolutionary relationship. (indiana.edu)
- To help understand the human evolutionary history of this region, we performed Y chromosome analyses on ancient human remains from archaeological sites ranging in age from 6500 to 2700 BP. (daum.net)
- The Y chromosome serves as an evolutionary tracker since it is mostly conserved and transmitted from male to male offspring, this helps us make phylogenetic studies and identification of ancestry . (brighthub.com)
- This will be a major boon to evolutionary studies of human populations and to the many groups doing mechanistic work on human centromeres and kinetochores," says Stanford University researcher Aaron Straight, whose work focuses on cell division and chromosome segregation. (nature.com)
- In general, more far is a specie (speaking in evolutionary terms) to human and more big is the difference. (answers.com)
- This comes about because of the fertilization of the female egg (with its 23 chromosomes, one of which is an X) with a sperm from the male (with its 23 chromosomes, one of which is either an X or a Y). (brighthub.com)
- Example: A human sperm or egg, which is haploid, contains 23 chromosomes (n=23). (csbsju.edu)
- For every chromosome in one of dad's sperm, there is a matching (homologous) chromosome in mom's egg. (csbsju.edu)
- Chromosomes are made up of long strands of DNA, which contain all the body's genes. (medlineplus.gov)
- We have multiple chromosomes because if the strands get too long they break in the wrong places, so splitting them up makes sure this doesn't happen. (hackaday.com)
- Genes are composed of strands of a molecule called DNA and are located in single file within the chromosomes. (kidshealth.org)
- The enzyme is involved in the breakdown of the hydrogen bonds between the two strands of DNA in the formation of mRNA, and the build up of the mRNA strand from 5-3 end. (abpischools.org.uk)
- DNA is a double helix made from two strands which are joined together by pairs of bases. (abpischools.org.uk)
- Each cell in the human body has 23 pairs of chromosomes, strands of DNA. (danielwillingham.com)
Region of chromosome3
- It is the same region of chromosome 3 that is abnormally copied (duplicated) in people with 3q29 microduplication syndrome (described below). (medlineplus.gov)
- It is the same region of chromosome 3 that is deleted in people with 3q29 microdeletion syndrome (described above). (medlineplus.gov)
- Fluorescence in situ hybridization with PAC DNA clones localized ATP1B3 to the q22 → 23 region of Chromosome (Chr) 3, and the β3 pseudogene to the p13 → 15 region of Chr 2. (elsevier.com)
- The problem lies in the unusual nature of the human male sex chromosomes, the only two on the long string of human DNA that are unequally matched, with an X and Y pairing up to create a male. (amherst.edu)
- We want to start with a human Y," he says, referring to the male sex chromosome, which he explains has the fewest genes of a person's 23 chromo-somes and is thus easier to build. (wired.com)
- Down syndrome-trisomy 21-occurs when there are 3 rather than 2 number 21 chromosomes (hence, trisomy 21). (verywell.com)
- By way of background, Trisomy-18 is a chromosome disorder. (danielwillingham.com)
- Trisomy means that there are three copies, not two, of one of the pairs. (danielwillingham.com)
- Three copies of the 18th chromosome give you Trisomy-18, also called Edwards Syndrome. (danielwillingham.com)
- So now you know why they picked the eighteenth of March-3/18-as Trisomy-18 awareness day. (danielwillingham.com)
- In comparison, the first complete sequencing of a human genome, done by the Human Genome Project , cost about $3 billion when it was finally completed in 2003. (wired.com)
- Human Genome Project Information Archive 1990-2003. (wikipedia.org)
- The din has faded from the 2001 celebration marking the end of the Human Genome Project. (nature.com)
- In the case of a human chromosome 2 (hChr.2)-derived hCF [hCF(2-W23), ≈5-20 Mb] ( 8 ) containing the Igκ locus, it was found to be transmitted to the offspring through the germ line, demonstrating the establishment of a trans-chromosomic (Tc) mouse [Tc(W23)] expressing the human Ig κ light chain (hκ) ( 7 ). (pnas.org)
- The Duchenne muscular dystrophy ( Dmd ) locus lies in a region of the X chromosome that experiences a high rate of recombination and is thus expected to be relatively unaffected by the effects of selection on nearby genes. (genetics.org)
- To provide a picture of nucleotide variability at a high-recombination locus in humans, we sequenced 5.4 kb from two introns of Dmd in a worldwide sample of 41 alleles from Africa, Asia, Europe, and the Americas. (genetics.org)
- A genetic locus is the place on homologous chromosome pairs where genes are located. (aappublications.org)
- METHODS Based on a whole genome linkage analysis, in a six generation consanguineous family with autosomal recessive inheritance, the first locus for isolated microphthalmia was mapped to chromosome 14q32. (bmj.com)
- Humans have 23 pairs of chromosomes while chimpanzees have 24. (answersingenesis.org)
- The Britten 9 study looked at 779 kilobase pairs to carefully examine differences between chimpanzees and humans. (answersingenesis.org)
- The banding patterns seen on stained chromosomes from humans and chimpanzees are compared in detail, showing striking similarities. (indiana.edu)
- What percentage of DNA do humans and chimpanzees share? (answers.com)
- One Perspective Although it has commonly been stated in the past that humans and chimpanzees have 98.5% DNA similarity, this figure has recently been found to be incorrect. (answers.com)
- Newer research has suggested that there is approximately 96% genetic similarity between Humans and chimpanzees overall. (answers.com)
- Specifically, 18 of the chromosomes of humans are nearly identical to those of chimpanzees, the rest are very different (eg: chromosomes 4, 9, 12, 21, and y). (answers.com)
- Some specific examples of differences include: 1) Humans have 23 pairs of chromosomes in total while chimpanzees have 24. (answers.com)
- 3) The Y chromosome in chimpanzees is smaller than that of humans and only 60% of the genes are similar to those of the y chromosome of humans. (answers.com)
- The similarity between humans and mice in many salient aspects of mammalian anatomy and physiology, coupled with the close genome homology between these two species, makes mice an excellent model for illustrating the function of human genes. (genetics.org)
- The main areas of research include human genetics and mammalian embryonic development. (yu.edu)
Thousands of genes2
- A review by Gagneux and Varki 2 described a list of genetic differences between humans and the great apes. (answersingenesis.org)
- One of the ways speciation succeeds is blocking hybridization: humans have 46 chromosomes (23 pairs) the other great apes have 48 (24 pairs). (physicsforums.com)
- Genetic differences between humans and great apes. (answers.com)
- A review by Gagneux and Varki2 described a list of genetic differences between humans and the great apes. (sciforums.com)
- 4 These include over 100 genetic traits (autosomal dominant, autosomal recessive, and sex linked) and deletions or translocations of virtually all the chromosomes 1 (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/OMIM/ ). (bmj.com)
- Deletions are when a part of a chromosome is either missing or deleted. (bartleby.com)
- The number of human genes is about 20,000-25,000. (ashg.org)
- Briefly, if a 500 million base pair genome is sequenced to a 10x coverage, 20,000 bases will be missed. (scienceblogs.com)
- Genes on chromosome 16 are among the estimated 20,000 to 25,000 total genes in the human genome. (news-medical.net)
- Humans are estimated to have about 20,000 to 30,000 genes in their genome. (bartleby.com)
- Mutation, migration, drift, recombination, selection at individual loci, the effects of selection at linked sites, and demographic history undoubtedly all play a role in shaping patterns of human genetic variation, although the relative importance of these different factors is not yet clear. (genetics.org)
- Encoded there as well are the mutations and variations that cause or increase susceptibility to many diseases responsible for much human suffering. (nap.edu)
- It's a difficult question to explore since the answer involves tracking human DNA and the harmful mutations genomes accumulate over long periods of time. (amherst.edu)
- Although the introduction of entire human Ig loci into mice to reconstitute full diverse human antibody repertoires has been a next major challenge, this has never been achieved because the cloning of over megabase-sized DNA fragments encompassing whole human Ig loci remains difficult even with the use of yeast artificial chromosomes ( 1 , 5 ). (pnas.org)
- The megaYAC's forebear, the yeast artificial chromosome, was invented in the late 1980s for cloning stretches of DNA that are too long to be manipulated in bacteria. (newscientist.com)
- Surprisingly, the indels added an additional 3.4 % of base pairs that were different. (answersingenesis.org)
- A conventional YAC can only hold up to 200 000 base pairs of DNA: it is the fivefold expansion of this capacity which makes the megaYAC such a boon to genome mappers. (newscientist.com)
- Around 146 base pairs (bp) of DNA wrap around this core particle 1.65 times in a left-handed super-helical turn to give a particle of around 100 Angstroms across. (wikipedia.org)
- This involves the wrapping of DNA around nucleosomes with approximately 50 base pairs of DNA separating each pair of nucleosomes (also referred to as linker DNA ). (wikipedia.org)
- A chromosome consists of millions of base pairs, some of which are called genes. (bartleby.com)
- The blackened boxes indicate base pairs that are identical in all three species. (nih.gov)
- Which type of mutation only affects one base pair? (brainscape.com)
- We propose a model that produces predictions at the base pair level, allowing strand-specific GC-effect correction regardless of the downstream smoothing or binning. (psu.edu)