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ChromosomesChromosome MappingChromosome BandingX ChromosomeChromosome AberrationsSex ChromosomesChromosomes, Human, Pair 1Chromosomes, HumanChromosomes, BacterialChromosome SegregationChromosomes, Human, Pair 7Chromosomes, Human, Pair 11Chromosomes, Human, Pair 17Chromosomes, Human, Pair 6Chromosome DeletionChromosomes, Human, Pair 9Chromosomes, Human, Pair 21Chromosomes, PlantChromosomes, FungalChromosomes, Human, 6-12 and XChromosomes, Human, Pair 2Chromosomes, Human, Pair 16Chromosomes, Human, Pair 22Chromosome PairingChromosomes, Human, Pair 13Chromosomes, MammalianChromosomes, Human, Pair 4Chromosomes, Human, Pair 10Chromosomes, Human, Pair 19Chromosomes, Human, Pair 8Chromosomes, Human, YChromosome DisordersChromosomes, Artificial, BacterialChromosomes, Human, Pair 12Chromosomes, Human, Pair 5Chromosomes, Human, XChromosome PaintingChromosomes, Human, 1-3Chromosomes, Human, Pair 15KaryotypingChromosomes, Human, Pair 14Chromosomes, Human, Pair 18Chromosomes, Human, Pair 20In Situ Hybridization, FluorescenceChromosomes, Human, 16-18Chromosomes, Artificial, YeastGenetic LinkageChromosomes, Human, 13-15Chromosome BreakageChromosomes, Human, 21-22 and YMolecular Sequence DataBase SequenceRing ChromosomesGenetic MarkersChromosome InversionChromosome PositioningChromosomes, Human, 4-5X Chromosome InactivationCentromereMeiosisChromosomes, InsectTranslocation, GeneticHybrid CellsChromosome StructuresChromosomes, Human, 19-20AneuploidyMetaphaseMitosisRecombination, GeneticMutationMicrosatellite RepeatsLod ScorePedigreeCrosses, GeneticCloning, MolecularPhenotypeDNAAllelesAmino Acid SequenceNucleic Acid HybridizationModels, GeneticTrisomySequence Analysis, DNANondisjunction, GeneticKinetochoresChromosomes, Artificial, HumanTelomereBlotting, SouthernGenotypeGenesChromosome WalkingPolymerase Chain ReactionChromosomal Proteins, Non-HistoneHaplotypesRepetitive Sequences, Nucleic AcidSpindle ApparatusQuantitative Trait LociChromosomal InstabilityEvolution, MolecularChromosome FragilityDNA ProbesChromosome DuplicationDNA, SatelliteDrosophila melanogasterDiploidyPlasmidsHeterozygoteChromatidsMultigene FamilyGenetic VariationDNA-Binding ProteinsMosaicismDNA ReplicationPolyploidyAbnormalities, MultipleDNA, BacterialGene DeletionPolymorphism, GeneticSpecies SpecificitySequence Homology, Nucleic AcidPolytene ChromosomesEscherichia coliNuclear ProteinsGene DosageProphaseInterphaseCell Cycle ProteinsSaccharomyces cerevisiaeLoss of HeterozygosityKaryotypeCosmidsPhylogenyCytogenetic AnalysisChromatinCytogeneticsTranscription, GeneticGenome, HumanGene RearrangementPolymorphism, Restriction Fragment LengthCell LineDNA Transposable ElementsDNA PrimersPolymorphism, Single NucleotideChromosome Fragile SitesGenetic Predisposition to DiseaseSequence Tagged SitesSequence Homology, Amino AcidSpermatocytesMonosomyGenes, X-LinkedSex Chromosome DisordersGenes, DominantGenomeSequence AlignmentCell NucleusGenes, RecessiveGenes, BacterialAzure StainsContig MappingDNA Restriction EnzymesHomozygotePhiladelphia ChromosomeChromosome BreakpointsGene DuplicationExonsChromosomes, ArchaealHaploidyPloidiesGenetic LociHybridization, GeneticDrosophilaGenome, PlantBase PairingGene AmplificationDNA, FungalGenomic ImprintingSex ChromatinGenes, LethalDNA, NeoplasmDNA, ComplementaryHistonesIntellectual DisabilityMicrotubulesTranscription FactorsSyndromePachytene StageDNA, PlantSister Chromatid ExchangeBacterial ProteinsChromosomes, ArtificialRNA, MessengerGene LibraryNucleic Acid ConformationIntronsQuantitative Trait, HeritableTriticumGenes, Y-LinkedBiological EvolutionEuchromatinGenomic LibrarySex Determination Processes
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)

Pfam: TUSC2Pfam: TUSC2
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 [1] #=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 [2] #=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 | WireflyNokia Lumia 1520 vs BLU Advance 4.0 | Wirefly
Nokia Lumia 1520 vs BLU Advance 4.0. Compare the specs and features of the Nokia Lumia 1520 and BLU Advance 4.0 to see which is better.
Omnimed Custom 5flag System 4 Blu,grn Wh,gy,& Rd Ea - Model 291735Omnimed Custom 5flag System 4" Blu,grn Wh,gy,& Rd Ea - Model 291735
Omnimed Custom 5Flag System 4 Blu,Grn WH,GY,& RD Ea - Model 291735 : This product is a non stock item that must be ordered from the manufacturer. As
Disease InfoSearch - Familial Renal Cell Carcinoma - Definition, causes, resources and support informationDisease InfoSearch - Familial Renal Cell Carcinoma - Definition, causes, resources and support information
Are you looking for disease information or support? Simply type in the name of a disease or condition and Disease InfoSearch will locate quality information from a database of more than 13,000 diseases and thousands of support groups and foundations.
Gene Report for G00001333 - Genes2Cognition Neuroscience Research ProgrammeGene 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 | Sciencep53: 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...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 AntibodyAnti-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 AntibodyAnti-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.. ...
Plus itPlus it
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 - VikipeediaIgLON - Vikipeedia
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The $50 Blu phone with a catch - Video - CNETThe $50 Blu phone with a catch - Video - CNET
The Blu R1 HD features a 5-inch display, an 8-megapixel camera and Android Marshmallow. It also costs just $50 -- but youll have to put up with ads.
Rahul Dholakias Lamhaa starring Sanjay Dutt to release on 16 July - Businessofcinema.comRahul Dholakia's Lamhaa starring Sanjay Dutt to release on 16 July - Businessofcinema.com
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Induction of Apoptosis and Inhibition of Tumorigenicity and Tumor Growth by Adenovirus Vector-mediated Fragile Histidine Triad ...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 | ScienceDPC4, 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.comFragile histidine triad definition | Drugs.com
Definition of fragile histidine triad. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms and definitions.
WikiGenes - FHIT - fragile histidine triadWikiGenes - FHIT - fragile histidine triad
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The candidate tumor suppressor gene BLU, located at the commonly deleted region 3p21.3, is an E2F-regulated, stress-responsive...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...Sequence Similarity - 1FHI: SUBSTRATE ANALOG (IB2) COMPLEX WITH THE FRAGILE HISTIDINE TRIAD PROTEIN, FHIT Sequence...
1FHI: Genetic, biochemical, and crystallographic characterization of Fhit-substrate complexes as the active signaling form of Fhit.
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KEGG PATHWAY: Small cell lung cancer - Homo sapiens (human)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 VictoriaLung Cancer: Novel Tumour Suppressor Genes on Chromosome 9p - Cancer Council Victoria
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Past principle - india - Hindustan TimesPast principle - india - Hindustan Times
The irony is that Arjun Singh stands for everything that Rahul Gandhi is trying to change within the Congress. Barkha Dutt examines...
Hepatitis Monthly | Tumor Suppressor DLEC1 can Stimulate the Proliferation of Cancer Cells When AP-2ɑ2 is Down-Regulated in...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.Analysis of losses of heterozygosity of the candidate tumour suppressor gene DMBT1 in melanoma resection specimens.
Deleted in malignant brain tumours 1 (DMBT1), a candidate tumour suppressor gene located on chromosome 10q25.3-q26.1, has recently been identified and found to be deleted in several different types of human tumours. In melanomas, the chromosomal regi
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Nijmegen breakage syndrome gene (NBS1) is not the tumor suppressor gene at 8q21.3 involved in colorectal carcinoma. - PubMed -...Nijmegen breakage syndrome gene (NBS1) is not the tumor suppressor gene at 8q21.3 involved in colorectal carcinoma. - PubMed -...
PubMed comprises more than 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
Comprehensive molecular characterization of clear cell renal cell carcinomaComprehensive 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 …
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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 smokersMolecular 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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As of 2015, the cause of the majority of myeloma cancers is not known, but progress is being made in understanding how mutations in DNA turn tumor suppressor genes on and off, explains the American...
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Duffy antigen systemDuffy antigen system
TBR1TBR1
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RAB7ARAB7A
EndometriosisEndometriosis
TP53-inducible glycolysis and apoptosis regulatorTP53-inducible glycolysis and apoptosis regulator
NDUFB4NDUFB4
NDUFB5NDUFB5
Loss of heterozygosityLoss of heterozygosity
Human genetic variationHuman genetic variation
PRP36PRP36
PLEKHM3PLEKHM3
TMEM98TMEM98
Human genomeHuman genome
BHLHE41BHLHE41
Mothers against decapentaplegic homolog 3Mothers against decapentaplegic homolog 3
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HOXD8HOXD8
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Chloroplast DNAChloroplast DNA
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HLA A1-B8-DR3-DQ2HLA A1-B8-DR3-DQ2
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Fluorescence in situ hybridizationFluorescence in situ hybridization
PSEN1PSEN1
Mycobacterium avium subspecies paratuberculosisMycobacterium avium subspecies paratuberculosis
RAD51RAD51
Vicia fabaVicia faba
Lyudmila TrutLyudmila Trut
ArchaeaArchaea
Chromosome 16Chromosome 16
Crab-eating foxCrab-eating fox
Mexican wolfMexican wolf
Puer teaPu'er tea
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Glycogen phosphorylaseGlycogen phosphorylase
Acid alpha-glucosidaseAcid alpha-glucosidase
EmbryologyEmbryology
MSH4, a enciclopedia libreMSH4, a enciclopedia libre
History of EnglandHistory of England
MycMyc
Romani peopleRomani people
Igbo peopleIgbo people
Haplogroup Q-M242Haplogroup Q-M242
AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesDisciplines and OccupationsTechnology, Industry, AgricultureInformation Science
ChromosomesChromosome MappingChromosome BandingX ChromosomeChromosome AberrationsSex ChromosomesChromosomes, Human, Pair 1Chromosomes, HumanChromosomes, BacterialChromosome SegregationChromosomes, Human, Pair 7Chromosomes, Human, Pair 11Chromosomes, Human, Pair 17Chromosomes, Human, Pair 6Chromosome DeletionChromosomes, Human, Pair 9Chromosomes, Human, Pair 21Chromosomes, PlantChromosomes, FungalChromosomes, Human, 6-12 and XChromosomes, Human, Pair 2Chromosomes, Human, Pair 16Chromosomes, Human, Pair 22Chromosome PairingChromosomes, Human, Pair 13Chromosomes, MammalianChromosomes, Human, Pair 4Chromosomes, Human, Pair 10Chromosomes, Human, Pair 19Chromosomes, Human, Pair 8Chromosomes, Human, YChromosome DisordersChromosomes, Artificial, BacterialChromosomes, Human, Pair 12Chromosomes, Human, Pair 5Chromosomes, Human, XChromosome PaintingChromosomes, Human, 1-3Chromosomes, Human, Pair 15KaryotypingChromosomes, Human, Pair 14Chromosomes, Human, Pair 18Chromosomes, Human, Pair 20In Situ Hybridization, FluorescenceChromosomes, Human, 16-18Chromosomes, Artificial, YeastGenetic LinkageChromosomes, Human, 13-15Chromosome BreakageChromosomes, Human, 21-22 and YMolecular Sequence DataBase SequenceRing ChromosomesGenetic MarkersChromosome InversionChromosome PositioningChromosomes, Human, 4-5X Chromosome InactivationCentromereMeiosisChromosomes, InsectTranslocation, GeneticHybrid CellsChromosome StructuresChromosomes, Human, 19-20AneuploidyMetaphaseMitosisRecombination, GeneticMutationMicrosatellite RepeatsLod ScorePedigreeCrosses, GeneticCloning, MolecularPhenotypeDNAAllelesAmino Acid SequenceNucleic Acid HybridizationModels, GeneticTrisomySequence Analysis, DNANondisjunction, GeneticKinetochoresChromosomes, Artificial, HumanTelomereBlotting, SouthernGenotypeGenesChromosome WalkingPolymerase Chain ReactionChromosomal Proteins, Non-HistoneHaplotypesRepetitive Sequences, Nucleic AcidSpindle ApparatusQuantitative Trait LociChromosomal InstabilityEvolution, MolecularChromosome FragilityDNA ProbesChromosome DuplicationDNA, SatelliteDrosophila melanogasterDiploidyPlasmidsHeterozygoteChromatidsMultigene FamilyGenetic VariationDNA-Binding ProteinsMosaicismDNA ReplicationPolyploidyAbnormalities, MultipleDNA, BacterialGene DeletionPolymorphism, GeneticSpecies SpecificitySequence Homology, Nucleic AcidPolytene ChromosomesEscherichia coliNuclear ProteinsGene DosageProphaseInterphaseCell Cycle ProteinsSaccharomyces cerevisiaeLoss of HeterozygosityKaryotypeCosmidsPhylogenyCytogenetic AnalysisChromatinCytogeneticsTranscription, GeneticGenome, HumanGene RearrangementPolymorphism, Restriction Fragment LengthCell LineDNA Transposable ElementsDNA PrimersPolymorphism, Single NucleotideChromosome Fragile SitesGenetic Predisposition to DiseaseSequence Tagged SitesSequence Homology, Amino AcidSpermatocytesMonosomyGenes, X-LinkedSex Chromosome DisordersGenes, DominantGenomeSequence AlignmentCell NucleusGenes, RecessiveGenes, BacterialAzure StainsContig MappingDNA Restriction EnzymesHomozygotePhiladelphia ChromosomeChromosome BreakpointsGene DuplicationExonsChromosomes, ArchaealHaploidyPloidiesGenetic LociHybridization, GeneticDrosophilaGenome, PlantBase PairingGene AmplificationDNA, FungalGenomic ImprintingSex ChromatinGenes, LethalDNA, NeoplasmDNA, ComplementaryHistonesIntellectual DisabilityMicrotubulesTranscription FactorsSyndromePachytene StageDNA, PlantSister Chromatid ExchangeBacterial ProteinsChromosomes, ArtificialRNA, MessengerGene LibraryNucleic Acid ConformationIntronsQuantitative Trait, HeritableTriticumGenes, Y-LinkedBiological EvolutionEuchromatinGenomic LibrarySex Determination Processes
Chromosomes, Human, Pair 3 | Harvard Catalyst Profiles | Harvard CatalystChromosomes, Human, Pair 3 | Harvard Catalyst Profiles | Harvard Catalyst
Chromosome 3 - WikipediaChromosome 3 - Wikipedia
Aspscr1 MGI Mouse Gene Detail - MGI:1916188 - alveolar soft part sarcoma chromosome region, candidate 1 (human)Aspscr1 MGI Mouse Gene Detail - MGI:1916188 - alveolar soft part sarcoma chromosome region, candidate 1 (human)
Inverted insertion of chromosome 7q and ectrodactylyInverted insertion of chromosome 7q and ectrodactyly
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34
Assignment of the human stromelysin 3 (STMY3) gene to the q11.2 region of chromosome 22.Assignment of the human stromelysin 3 (STMY3) gene to the q11.2 region of chromosome 22.
Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis.Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis.
Double trans-chromosomic mice: Maintenance of two individual human chromosome fragments containing Ig heavy and κ loci and...Double trans-chromosomic mice: Maintenance of two individual human chromosome fragments containing Ig heavy and κ loci and...
The Rockefeller University » Pairing and Patterning Between Meiotic ChromosomesThe Rockefeller University » Pairing and Patterning Between Meiotic Chromosomes
Chromosomes and DNA: MedlinePlus Medical Encyclopedia ImageChromosomes and DNA: MedlinePlus Medical Encyclopedia Image
As climate changes threaten Californias giant redwoods, the key to their salvation might be within them - The Washington PostAs climate changes threaten California's giant redwoods, the key to their salvation might be within them - The Washington Post
Chromosome 3: MedlinePlus GeneticsChromosome 3: MedlinePlus Genetics
Pituitary Dwarfism | Encyclopedia.comPituitary Dwarfism | Encyclopedia.com
Six Things Everyone Should Know About Genetics| ASHGSix Things Everyone Should Know About Genetics| ASHG
Greater Than 98% Chimp/Human DNA Similarity? Not Any More. | Answers in Genesis Greater Than 98% Chimp/Human DNA Similarity? Not Any More. | Answers in Genesis
topic:Chromosomes, Human, Pair 9 - genetics found 36 records • Arctic Healthtopic:"Chromosomes, Human, Pair 9 - genetics" found 36 records • Arctic Health
French find short cut to map of human genome | New ScientistFrench find short cut to map of human genome | New Scientist
A Science Odyssey:Resources: Camp-in Curriculum: GeneticsA Science Odyssey:Resources: Camp-in Curriculum: Genetics
DNA Transistor Could Revolutionize Genetic Testing |...'DNA Transistor' Could Revolutionize Genetic Testing |...
How Sex is Determined by GeneticsHow Sex is Determined by Genetics
Histone - WikipediaHistone - Wikipedia
IJMS | Free Full-Text | Hyaluronan and Fibrin Biomaterial as Scaffolds for Neuronal Differentiation of Adult Stem Cells...IJMS | Free Full-Text | Hyaluronan and Fibrin Biomaterial as Scaffolds for Neuronal Differentiation of Adult Stem Cells...
Chromosome 16 open reading frame 13 - WikipediaChromosome 16 open reading frame 13 - Wikipedia
Chapter 3: Human Development (AP) by Anne Ginnett on PreziChapter 3: Human Development (AP) by Anne Ginnett on Prezi
Chromosome 3 Related DiseasesChromosome 3 Related Diseases
Evolution and the Bible | Xenos Christian FellowshipEvolution and the Bible | Xenos Christian Fellowship
CloningCloning
DNA AND PROTEINDNA AND PROTEIN
Chromosome 3 (human) - WikipediaChromosome 3 (human) - Wikipedia
Book Quizzes Online, Trivia, Questions & Answers - Page 3 by ProProfsBook Quizzes Online, Trivia, Questions & Answers - Page 3 by ProProfs
AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesDisciplines and OccupationsTechnology, Industry, AgricultureInformation Science
ChromosomesChromosome MappingChromosome BandingX ChromosomeChromosome AberrationsSex ChromosomesChromosomes, Human, Pair 1Chromosomes, HumanChromosomes, BacterialChromosome SegregationChromosomes, Human, Pair 7Chromosomes, Human, Pair 11Chromosomes, Human, Pair 17Chromosomes, Human, Pair 6Chromosome DeletionChromosomes, Human, Pair 9Chromosomes, Human, Pair 21Chromosomes, PlantChromosomes, FungalChromosomes, Human, 6-12 and XChromosomes, Human, Pair 2Chromosomes, Human, Pair 16Chromosomes, Human, Pair 22Chromosome PairingChromosomes, Human, Pair 13Chromosomes, MammalianChromosomes, Human, Pair 4Chromosomes, Human, Pair 10Chromosomes, Human, Pair 19Chromosomes, Human, Pair 8Chromosomes, Human, YChromosome DisordersChromosomes, Artificial, BacterialChromosomes, Human, Pair 12Chromosomes, Human, Pair 5Chromosomes, Human, XChromosome PaintingChromosomes, Human, 1-3Chromosomes, Human, Pair 15KaryotypingChromosomes, Human, Pair 14Chromosomes, Human, Pair 18Chromosomes, Human, Pair 20In Situ Hybridization, FluorescenceChromosomes, Human, 16-18Chromosomes, Artificial, YeastGenetic LinkageChromosomes, Human, 13-15Chromosome BreakageChromosomes, Human, 21-22 and YMolecular Sequence DataBase SequenceRing ChromosomesGenetic MarkersChromosome InversionChromosome PositioningChromosomes, Human, 4-5X Chromosome InactivationCentromereMeiosisChromosomes, InsectTranslocation, GeneticHybrid CellsChromosome StructuresChromosomes, Human, 19-20AneuploidyMetaphaseMitosisRecombination, GeneticMutationMicrosatellite RepeatsLod ScorePedigreeCrosses, GeneticCloning, MolecularPhenotypeDNAAllelesAmino Acid SequenceNucleic Acid HybridizationModels, GeneticTrisomySequence Analysis, DNANondisjunction, GeneticKinetochoresChromosomes, Artificial, HumanTelomereBlotting, SouthernGenotypeGenesChromosome WalkingPolymerase Chain ReactionChromosomal Proteins, Non-HistoneHaplotypesRepetitive Sequences, Nucleic AcidSpindle ApparatusQuantitative Trait LociChromosomal InstabilityEvolution, MolecularChromosome FragilityDNA ProbesChromosome DuplicationDNA, SatelliteDrosophila melanogasterDiploidyPlasmidsHeterozygoteChromatidsMultigene FamilyGenetic VariationDNA-Binding ProteinsMosaicismDNA ReplicationPolyploidyAbnormalities, MultipleDNA, BacterialGene DeletionPolymorphism, GeneticSpecies SpecificitySequence Homology, Nucleic AcidPolytene ChromosomesEscherichia coliNuclear ProteinsGene DosageProphaseInterphaseCell Cycle ProteinsSaccharomyces cerevisiaeLoss of HeterozygosityKaryotypeCosmidsPhylogenyCytogenetic AnalysisChromatinCytogeneticsTranscription, GeneticGenome, HumanGene RearrangementPolymorphism, Restriction Fragment LengthCell LineDNA Transposable ElementsDNA PrimersPolymorphism, Single NucleotideChromosome Fragile SitesGenetic Predisposition to DiseaseSequence Tagged SitesSequence Homology, Amino AcidSpermatocytesMonosomyGenes, X-LinkedSex Chromosome DisordersGenes, DominantGenomeSequence AlignmentCell NucleusGenes, RecessiveGenes, BacterialAzure StainsContig MappingDNA Restriction EnzymesHomozygotePhiladelphia ChromosomeChromosome BreakpointsGene DuplicationExonsChromosomes, ArchaealHaploidyPloidiesGenetic LociHybridization, GeneticDrosophilaGenome, PlantBase PairingGene AmplificationDNA, FungalGenomic ImprintingSex ChromatinGenes, LethalDNA, NeoplasmDNA, ComplementaryHistonesIntellectual DisabilityMicrotubulesTranscription FactorsSyndromePachytene StageDNA, PlantSister Chromatid ExchangeBacterial ProteinsChromosomes, ArtificialRNA, MessengerGene LibraryNucleic Acid ConformationIntronsQuantitative Trait, HeritableTriticumGenes, Y-LinkedBiological EvolutionEuchromatinGenomic LibrarySex Determination Processes
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
Gene48
Deletion15
Autosomes4
Short arm of chromosome2
Sets of chromosomes3
Cells50
Chromosomal7
Homologous chromosomes6
Billion base pairs5
Nucleotides5
Total of 47 chromosomes3
Organism2
Nucleus2
Diploid3
Proteins6
Sequence8
Copies of chromosome 212
Another chromosome1
Half the number of chromosomes1
Organisms1
Million base pairs6
Histones3
  • 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
Kilobases4
Cell's1
Loss of heterozygos1
Genes on each chromosome2
Structures2
21st4
Cell divides2
Meiosis1
Scientists9
Chimpanzee5
Sequences6
Evolutionary9
Sperm3
Strands6
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)
Male sex2
Trisomy5
Bacterial artificial1
Genome Project3
20171
Locus5
  • 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)
Chimpanzees9
Haploid genome1
Extra chromosome1
  • In nondisjunction, for around 90% of children, the extra chromosome comes from the mother (the egg). (verywell.com)
Descriptor1
Mammalian2
Thousands of genes2
Great apes4
Deletions2
  • 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)
Somatic cell1
20,0004
19981
Person's1
10001
Embryonic1
  • A similar approach may be useful for studying complex control regions surrounding many other genes important in embryonic development and human disease. (nih.gov)
19943
Recombination1
  • 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)
Hybridization1
  • Dot blot analysis of β3 subunit transcripts revealed expression within virtually all human tissues, while in situ hybridization showed expression of β3 mRNA in both neurons and glia of rat brain. (elsevier.com)
Mutations2
  • 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)
Genetic material1
  • A small amount of missing genetic material on the p arm of chromosome 16 causes a condition called 16p12.2 microdeletion, which is associated with physical and developmental abnormalities in some affected individuals. (nih.gov)
Artificial2
  • 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)
Tightly2
Microcell-mediated1
Determines2
Base8
Twenty three pairs1
Chromosome 3 - Wikipedia
Chromosome 3 - Wikipedia (en.wikipedia.org)
Six Things Everyone Should Know About Genetics| ASHG
Six Things Everyone Should Know About Genetics| ASHG (ashg.org)
As climate changes threaten California's giant redwoods, the key to their salvation might be within them - The Washington Post
As climate changes threaten California's giant redwoods, the key to their salvation might be within them - The Washington Post (washingtonpost.com)
Greater Than 98% Chimp/Human DNA Similarity? Not Any More. | Answers in Genesis
Greater Than 98% Chimp/Human DNA Similarity? Not Any More. | Answers in Genesis (answersingenesis.org)
French find short cut to map of human genome | New Scientist
French find short cut to map of human genome | New Scientist (newscientist.com)
Chromosome 3 Related Diseases
Chromosome 3 Related Diseases (news-medical.net)
Cloning
Cloning (abpischools.org.uk)
Evolution and the Bible | Xenos Christian Fellowship
Evolution and the Bible | Xenos Christian Fellowship (xenos.org)
How Sex is Determined by Genetics
How Sex is Determined by Genetics (brighthub.com)
Histone - Wikipedia
Histone - Wikipedia (en.wikipedia.org)
DNA AND PROTEIN
DNA AND PROTEIN (jesus-is-savior.com)
Science stuff Essay - 443 Words | Major Tests
Science stuff Essay - 443 Words | Major Tests (majortests.com)
Patents | Encyclopedia.com
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Genetic Justice by Sheldon Krimsky and Tania Simoncelli by Sheldon Krimsky and Tania Simoncelli - Read Online
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Number 23 DVD Contest
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2 Introduction | Mapping and Sequencing the Human Genome | The National Academies Press
2 Introduction | Mapping and Sequencing the Human Genome | The National Academies Press (nap.edu)
MEX3C Gene - GeneCards | MEX3C Protein | MEX3C Antibody
MEX3C Gene - GeneCards | MEX3C Protein | MEX3C Antibody (genecards.org)
Human ape fused chromosomes paradigm - creation.com
Human ape fused chromosomes paradigm - creation.com (creation.com)
Does this chromosome come in a bigger size? | [ weird things ]
Does this chromosome come in a bigger size? | [ weird things ] (worldofweirdthings.com)
DECLARATION of Emanuel Petricoin, Ph for Association For Molecular Pathology et al v. United States Patent and Trademark Office...
DECLARATION of Emanuel Petricoin, Ph for Association For Molecular Pathology et al v. United States Patent and Trademark Office... (docs.justia.com)
Structural organization and chromosomal localization of the human Na,K-ATPase β3 subunit gene and pseudogene<...
Structural organization and chromosomal localization of the human Na,K-ATPase β3 subunit gene and pseudogene<... (pennstate.pure.elsevier.com)
Microbial Genetics Flashcards by | Brainscape
Microbial Genetics Flashcards by | Brainscape (brainscape.com)
Genetics - CreationWiki, the encyclopedia of creation science
Genetics - CreationWiki, the encyclopedia of creation science (creationwiki.org)