Chromosomes: In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Chromosome Banding: Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.X Chromosome: The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Sex Chromosomes: The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)Chromosomes, Human, Pair 1: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Human: Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.Chromosomes, Bacterial: Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosome Segregation: The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.Chromosomes, Human, Pair 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 11: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 17: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 6: A specific pair GROUP C CHROMSOMES of the human chromosome classification.Chromosome Deletion: Actual loss of portion of a chromosome.Chromosomes, Human, Pair 9: A specific pair of GROUP C CHROMSOMES of the human chromosome classification.Chromosomes, Human, Pair 21: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosomes, Plant: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.Chromosomes, Fungal: Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosomes, Human, 6-12 and X: The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.Chromosomes, Human, Pair 2: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Human, Pair 16: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosome Pairing: The alignment of CHROMOSOMES at homologous sequences.Chromosomes, Mammalian: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.Chromosomes, Human, Pair 13: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 4: A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 10: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Y: The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.Chromosomes, Human, Pair 8: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 19: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Chromosome Disorders: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)Chromosomes, Artificial, Bacterial: DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.Chromosomes, Human, X: The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.Chromosomes, Human, 1-3: The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.Chromosomes, Human, Pair 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosome Painting: A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.Chromosomes, Human, Pair 5: One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).Chromosomes, Human, Pair 15: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Karyotyping: Mapping of the KARYOTYPE of a cell.Chromosomes, Human, Pair 14: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 18: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, 16-18: The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.In Situ Hybridization, Fluorescence: A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.Chromosomes, Human, Pair 20: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Chromosomes, Artificial, Yeast: Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.Chromosomes, Human, 13-15: The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Chromosome Breakage: A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.Chromosomes, Human, 21-22 and Y: The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.Ring Chromosomes: Aberrant chromosomes with no ends, i.e., circular.Chromosome Inversion: An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Chromosome Positioning: The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.Chromosomes, Human, 4-5: The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.X Chromosome Inactivation: A dosage compensation process occurring at an early embryonic stage in mammalian development whereby, at random, one X CHROMOSOME of the pair is repressed in the somatic cells of females.Centromere: The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Chromosomes, Insect: Structures within the CELL NUCLEUS of insect cells containing DNA.Translocation, Genetic: A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.Meiosis: A type of CELL NUCLEUS division, occurring during maturation of the GERM CELLS. Two successive cell nucleus divisions following a single chromosome duplication (S PHASE) result in daughter cells with half the number of CHROMOSOMES as the parent cells.Hybrid Cells: Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.Chromosome Structures: Structures which are contained in or part of CHROMOSOMES.Chromosomes, Human, 19-20: The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.Aneuploidy: The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).Metaphase: The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.Mitosis: A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.Recombination, Genetic: Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.Lod Score: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Crosses, Genetic: Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Microsatellite Repeats: A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Cloning, Molecular: The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.Nondisjunction, Genetic: The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none.Chromosomes, Artificial, Human: DNA constructs that are composed of, at least, all elements, such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, required for successful replication, propagation to and maintainance in progeny human cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.Kinetochores: Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.Nucleic Acid Hybridization: Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)Telomere: A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.DNA: A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).Chromosome Walking: A technique with which an unknown region of a chromosome can be explored. It is generally used to isolate a locus of interest for which no probe is available but that is known to be linked to a gene which has been identified and cloned. A fragment containing a known gene is selected and used as a probe to identify other overlapping fragments which contain the same gene. The nucleotide sequences of these fragments can then be characterized. This process continues for the length of the chromosome.Chromosomal Proteins, Non-Histone: Nucleoproteins, which in contrast to HISTONES, are acid insoluble. They are involved in chromosomal functions; e.g. they bind selectively to DNA, stimulate transcription resulting in tissue-specific RNA synthesis and undergo specific changes in response to various hormones or phytomitogens.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Chromosomal Instability: An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.Spindle Apparatus: A microtubule structure that forms during CELL DIVISION. It consists of two SPINDLE POLES, and sets of MICROTUBULES that may include the astral microtubules, the polar microtubules, and the kinetochore microtubules.Blotting, Southern: A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.Models, Genetic: Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Chromosome Fragility: Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Haplotypes: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.Chromosome Duplication: An aberration in which an extra chromosome or a chromosomal segment is made.DNA, Satellite: Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.DNA Probes: Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.Genes: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.Repetitive Sequences, Nucleic Acid: Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).Diploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Chromatids: Either of the two longitudinally adjacent threads formed when a eukaryotic chromosome replicates prior to mitosis. The chromatids are held together at the centromere. Sister chromatids are derived from the same chromosome. (Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Mosaicism: The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Abnormalities, MultiplePolytene Chromosomes: Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.Multigene Family: A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)Polyploidy: The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.DNA Replication: The process by which a DNA molecule is duplicated.Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.Prophase: The first phase of cell nucleus division, in which the CHROMOSOMES become visible, the CELL NUCLEUS starts to lose its identity, the SPINDLE APPARATUS appears, and the CENTRIOLES migrate toward opposite poles.Interphase: The interval between two successive CELL DIVISIONS during which the CHROMOSOMES are not individually distinguishable. It is composed of the G phases (G1 PHASE; G0 PHASE; G2 PHASE) and S PHASE (when DNA replication occurs).Gene Dosage: The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.Loss of Heterozygosity: The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.Cell Cycle Proteins: Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.DNA-Binding Proteins: Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.Genome, Human: The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.Cytogenetic Analysis: Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.Genetic Variation: Genotypic differences observed among individuals in a population.Cytogenetics: A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.Karyotype: The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)Nuclear Proteins: Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.Polymorphism, Genetic: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.Cosmids: Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.Chromosome Fragile Sites: Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.)Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.Chromatin: The material of CHROMOSOMES. It is a complex of DNA; HISTONES; and nonhistone proteins (CHROMOSOMAL PROTEINS, NON-HISTONE) found within the nucleus of a cell.Sex Chromosome Disorders: Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).Monosomy: The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.Plasmids: Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.Spermatocytes: Male germ cells derived from SPERMATOGONIA. The euploid primary spermatocytes undergo MEIOSIS and give rise to the haploid secondary spermatocytes which in turn give rise to SPERMATIDS.Genes, X-Linked: Genes that are located on the X CHROMOSOME.Sequence Tagged Sites: Short tracts of DNA sequence that are used as landmarks in GENOME mapping. In most instances, 200 to 500 base pairs of sequence define a Sequence Tagged Site (STS) that is operationally unique in the human genome (i.e., can be specifically detected by the polymerase chain reaction in the presence of all other genomic sequences). The overwhelming advantage of STSs over mapping landmarks defined in other ways is that the means of testing for the presence of a particular STS can be completely described as information in a database.Polymorphism, Restriction Fragment Length: Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.DNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Species Specificity: The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.Saccharomyces cerevisiae: A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.DNA Transposable Elements: Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Philadelphia Chromosome: An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE).Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Azure Stains: PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Chromosomes, Archaeal: Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.Sequence Homology, Nucleic Acid: The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.Chromosome Breakpoints: The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.Contig Mapping: Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.Cell Nucleus: Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.Ploidies: The degree of replication of the chromosome set in the karyotype.Homozygote: An individual in which both alleles at a given locus are identical.Haploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.Escherichia coli: A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.Genetic Loci: Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.DNA Primers: Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.Sex Chromatin: In the interphase nucleus, a condensed mass of chromatin representing an inactivated X chromosome. Each X CHROMOSOME, in excess of one, forms sex chromatin (Barr body) in the mammalian nucleus. (from King & Stansfield, A Dictionary of Genetics, 4th ed)Genomic Imprinting: The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)Gene Duplication: Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.Hybridization, Genetic: The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.Gene Amplification: A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.Drosophila: A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.Genes, Lethal: Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.Transcription, Genetic: The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)Genes, Bacterial: The functional hereditary units of BACTERIA.Genome, Plant: The genetic complement of a plant (PLANTS) as represented in its DNA.DNA, Neoplasm: DNA present in neoplastic tissue.Chromosomes, Artificial: DNA constructs that are composed of, at least, elements such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, that are required for successful replication, propagation to and maintenance in progeny cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.Sister Chromatid Exchange: An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME.Syndrome: A characteristic symptom complex.Pachytene Stage: The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.Microtubules: Slender, cylindrical filaments found in the cytoskeleton of plant and animal cells. They are composed of the protein TUBULIN and are influenced by TUBULIN MODULATORS.Sequence Alignment: The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Histones: Small chromosomal proteins (approx 12-20 kD) possessing an open, unfolded structure and attached to the DNA in cell nuclei by ionic linkages. Classification into the various types (designated histone I, histone II, etc.) is based on the relative amounts of arginine and lysine in each.DNA, Fungal: Deoxyribonucleic acid that makes up the genetic material of fungi.Genes, Y-Linked: Genes that are located on the Y CHROMOSOME.Euchromatin: Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.Triticum: A plant genus of the family POACEAE that is the source of EDIBLE GRAIN. A hybrid with rye (SECALE CEREALE) is called TRITICALE. The seed is ground into FLOUR and used to make BREAD, and is the source of WHEAT GERM AGGLUTININS.Genes, Tumor Suppressor: Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.DNA, Plant: Deoxyribonucleic acid that makes up the genetic material of plants.Aurora Kinases: A family of highly conserved serine-threonine kinases that are involved in the regulation of MITOSIS. They are involved in many aspects of cell division, including centrosome duplication, SPINDLE APPARATUS formation, chromosome alignment, attachment to the spindle, checkpoint activation, and CYTOKINESIS.Sex Determination Processes: The mechanisms by which the SEX of an individual's GONADS are fixed.Down Syndrome: A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)Genes, Insect: The functional hereditary units of INSECTS.DNA, Complementary: Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.Meiotic Prophase I: The prophase of the first division of MEIOSIS (in which homologous CHROMOSOME SEGREGATION occurs). It is divided into five stages: leptonema, zygonema, PACHYNEMA, diplonema, and diakinesis.Quantitative Trait, Heritable: A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)Radiation Hybrid Mapping: A method for ordering genetic loci along CHROMOSOMES. The method involves fusing irradiated donor cells with host cells from another species. Following cell fusion, fragments of DNA from the irradiated cells become integrated into the chromosomes of the host cells. Molecular probing of DNA obtained from the fused cells is used to determine if two or more genetic loci are located within the same fragment of donor cell DNA.Gene Library: A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences.Genetic Heterogeneity: The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)DNA Restriction Enzymes: Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.Sex Chromosome Disorders of Sex Development: Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM.

Interacting populations affecting proliferation of leukemic cells in culture. (1/44)

Peripheral blood cells from three patients with acute leukemic have been studied using a suspension culture method previously described.1 Cytogenetic studies in two of the patients permitted the identification of the proliferating cells in the cultures as being derived from a leukemic population. Cell separation studies using velocity sedimentation supported the concept that growth of the leukemic cells in culture is dependent on an interaction between two populations of leukemic cells.  (+info)

A mentally retarded child with a translocation involving chromosomes 12 and 19. (2/44)

This report concerns a de novo reciprocal translocation between the long arms of the chromosomes 12 and 19 in a mentally retarded child with bilateral radioulnar synostosis, agenesis of the corpus callosum, and several minor congenital malformations.  (+info)

Trisomy of the short arm of chromosome 10. (3/44)

A case of a fetus with multiple malformations is described. The mother showed a 46,XX,rcp(10;22) (p11;p11) karyotype. Amniocentesis at the 16th week of gestation revealed that the male fetus had a der(22) chromosome--that is, he was trisomic for a large part of 10p (10pter leads to 10p11). Clinical findings of cases with 10p, 10q, and mosaic 10 trisomies are briefly reviewed.  (+info)

Partial trisomy 20 (20q13) and partial trisomy 21 (21pter leads to 21q21.3). (4/44)

A patient with a double partial trisomy 20 and 21 with mild mental retardation and multiple congenital anomalies is presented. Despite trisomy for a substantial portion of chromosome 21, the patient showed only minor stigmata compatible with Down syndrome.  (+info)

Genome-wide linkage of obstructive sleep apnoea and high-density lipoprotein cholesterol in a Filipino family: bivariate linkage analysis of obstructive sleep apnoea. (5/44)

 (+info)

c-src is consistently conserved in the chromosomal deletion (20q) observed in myeloid disorders. (6/44)

The proto-oncogene c-src has been mapped to two bands in human chromosomes, 1p36 and 20q13, both of which are involved in rearrangements in human tumors. In particular, deletions (loss of part of a chromosome) of the long arm of chromosome 20, del(20q), are commonly observed in hematologic malignant diseases. By using in situ chromosomal hybridization of a c-src probe to metaphase cells prepared from leukemic bone marrow cells of three patients with a del(20q), we observed specific labeling on the deleted chromosome in each patient, indicating that the c-src locus was conserved. The presence on the rearranged chromosomes of c-src, which is normally located on the most distal band of 20q, indicated that the deletions were not terminal as they appeared to be on the basis of chromosome morphology, but rather that they were interstitial. The location of c-src relative to the distal breakpoint in these deletions is unknown. By using the v-src probe in Southern blot analysis of genomic DNA from three patients with a del(20q), we found that no major genomic rearrangements or amplification of the c-src genes had occurred within the regions homologous to v-src. Our observation that c-src is consistently preserved in these rearranged chromosomes suggests that this gene may play a role in the pathogenesis of some myeloid disorders.  (+info)

Leukemia with Down's syndrome: translocation between chromosomes 1 and 19 in acute myelomonocytic leukemia following transient congenital myeloproliferative syndrome. (7/44)

A girl with Down's syndrome was born with a myeloproliferative disorder. The child had spontaneous regression of the myeloproliferation, with acute leukemia developing at a later date. Morphologic, cytochemical, immunologic, and immunoglobulin gene configuration studies all supported the diagnosis of acute nonlymphocytic leukemia. High-resolution chromosome studies revealed that the leukemic cells consistently contained a translocation between chromosomes 1 and 19: der(19)t(1;19)(q25;p13). Spontaneous regression of the transient myeloproliferative syndrome of the newborn with Down's syndrome may not always be permanent, and the transient myeloproliferative syndrome may sometimes represent an early sign of acute nonlymphocytic leukemia.  (+info)

Isolation of duplicated human c-src genes located on chromosomes 1 and 20. (8/44)

The oncogene (v-src) of Rous sarcoma virus apparently arose by transduction of the chicken gene known as c-src(chicken). We isolated DNA fragments representative of two src-related loci from recombinant DNA bacteriophage libraries of the human genome. One of these loci, c-src1(human), appeared to direct the synthesis of a 5-kilobase polyadenylated RNA that presumably encodes pp60c-src(human). Probes specific for the other locus, c-src2(human), did not hybridize to polyadenylated RNA prepared from a variety of human cell lines. Partial nucleotide sequence determinations of the loci demonstrated that c-src1(human) is highly related to chicken c-src and that c-src2(human) is slightly more divergent. The sequences imply that the final two coding exons of each human locus are identical in length to those of chicken c-src and that the location of an amber stop codon is unchanged in all three loci. c-src1(human) has been mapped to chromosome 20, and the second locus is located on chromosome 1. We conclude that c-src1(human) is the analog of c-src(chicken) and that the duplicated locus, c-src2(human), may also be expressed.  (+info)

*Chromosome 19 (human)

Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 19". Genet Test. 1 (2): 145-9. ... The following is a partial list of genes on human chromosome 19. For complete list, see the link in the infobox on the right. ... The following are some of the gene count estimates of human chromosome 19. Because researchers use different approaches to ... People normally have two copies of this chromosome. Chromosome 19 spans more than 58.6 million base pairs, the building ...

*Centromere

"Chromosomes, Chromosome Anomalies". *Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. ... The human genome includes six acrocentric chromosomes: 13, 14, 15, 21, 22 and the Y chromosome. In an acrocentric chromosome ... A chromosome is metacentric if its two arms are roughly equal in length. In a normal human karyotype, five chromosomes are ... Humans do not possess telocentric chromosomes. If the chromosome's centromere is located closer to its end than to its center, ...

*MTA3

The Mta3 is localized on chromosome 12p in mice and MTA3 on 2p21 in human. The human MTA3 gene contains 20 exons, and 19 ... Metastasis-associated protein MTA3 is a protein that in humans is encoded by the MTA3 gene. MTA3 protein localizes in the ... However, MTA3 is also overexpressed in a variety of human cancers. Mouse Mta3 was initially identified as a partial cDNA with ... Zhang X, Zhang Y, Li Y (Aug 2013). "β-elemene decreases cell invasion by upregulating E-cadherin expression in MCF-7 human ...

*Piet Borst

... later also found in human telomeres. Introduction of PFG electrophoresis for the separation of chromosome-sized DNA molecules ... Reid G, Wielinga P, Zelcer N, Van der Heijden I, Kuil A, De Haas M, Wijnholds J, Borst P. The human multidrug resistance ... Bernards A, Michels PA, Lincke CR, Borst P. Growth of chromosome ends in multiplying trypanosomes. Nature. 1983;303:592-7. Van ... Van der Ploeg LH, Cornelissen AW, Barry JD, Borst P. Chromosomes of kinetoplastida. EMBO J. 1984;3:3109-15. Heymans HS, ...

*List of geneticists

... pioneer on human fragile sites, human genome Walter Sutton (1877-1916), US surgeon and scientist, proved chromosomes contained ... discovered XY and XX sex chromosomes Øjvind Winge (1886-1964), Danish biologist and pioneer in yeast genetics Chester B. ... Swiss ophthalmologist and human geneticist Harold Klinger (1929-2004), US pioneer on human chromosomes, founded journal ... cloned and sequenced the human Y chromosome Theophilus Painter (1889-1969), US zoologist, studied fruit fly and human testis ...

*Boolean network

"Imprinting of the human L3MBTL gene, a polycomb family member located in a region of chromosome 20 deleted in human myeloid ... 101 (19): 7341-7346. Bibcode:2004PNAS..101.7341L. doi:10.1073/pnas.0308195101. PMC 409920 . PMID 15123827. Drossel, Barbara ( ... 106 (20): 8209-8214. doi:10.1073/pnas.0900142106. ISSN 0027-8424. PMC 2688895 . PMID 19416903. Aldana, Maximino (October 2003 ... Pomerance, Andrew; Ott, Edward; Girvan, Michelle; Losert, Wolfgang (2009-05-19). "The effect of network topology on the ...

*Metabotropic glutamate receptor 7

Barbon A, Ferraboli S, Barlati S (2000). "Assignment of the human metabotropic glutamate receptor gene GRM7 to chromosome ... to human chromosome 7q". Genomics. 31 (2): 230-3. doi:10.1006/geno.1996.0036. PMID 8824806. Flor PJ, Van Der Putten H, Rüegg D ... Metabotropic glutamate receptor 7 is a protein that in humans is encoded by the GRM7 gene. L-glutamate is the major excitatory ... Wu S, Wright RA, Rockey PK, Burgett SG, Arnold JS, Rosteck PR, Johnson BG, Schoepp DD, Belagaje RM (1998). "Group III human ...

*PLCB4

2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-71. doi:10.1038/414865a. ... 1991). "Human immunodeficiency virus-1 glycoproteins gp120 and gp160 specifically inhibit the CD3/T cell-antigen receptor ... Lyu MS, Park DJ, Rhee SG, Kozak CA (1996). "Genetic mapping of the human and mouse phospholipase C genes". Mamm. Genome. 7 (7 ... Bennasser Y, Badou A, Tkaczuk J, Bahraoui E (2003). "Signaling pathways triggered by HIV-1 Tat in human monocytes to induce TNF ...

*PTK6

2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-71. doi:10.1038/414865a. ... Tyrosine-protein kinase 6 is an enzyme that in humans is encoded by the PTK6 gene. Tyrosine-protein kinase 6 (also known as ... Park SH, Lee KH, Kim H, Lee ST (September 1997). "Assignment of the human PTK6 gene encoding a non-receptor protein tyrosine ... Kang KN, Kim M, Pae KM, Lee ST (2002). "Characterization of the 5'-flanking region of the human PTK6 gene". Biochim. Biophys. ...

*DNA (cytosine-5)-methyltransferase 3A

DMT3A is a 130 kDa protein encoded by 23 exons found on chromosome 2p23 in humans. There exists a 98% homology between human ... expression and chromosome locations of the human DNMT3 gene family". Gene. 236 (1): 87-95. doi:10.1016/S0378-1119(99)00252-8. ... The enzyme is encoded in humans by the DNMT3A gene. This enzyme is responsible for de novo DNA methylation. Such function is to ... Robertson KD, Uzvolgyi E, Liang G, Talmadge C, Sumegi J, Gonzales FA, Jones PA (June 1999). "The human DNA methyltransferases ( ...

*PCK1

1993). "Human PCK1 encoding phosphoenolpyruvate carboxykinase is located on chromosome 20q13.2". Genomics. 15 (1): 219-21. doi: ... 2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-71. doi:10.1038/414865a. ... 2001). "Functional interactions of human immunodeficiency virus type 1 integrase with human and yeast HSP60". J. Virol. 75 (23 ... map to human chromosome 20, extending the known region of homology with mouse chromosome 2". Ann. Hum. Genet. 56 (Pt 4): 289-93 ...

*1955 in science

"The discovery of the human chromosome number in Lund, 1955-1956". Human Genetics. 119: 226-232. doi:10.1007/s00439-005-0121-x. ... Joe Hin Tjio working with Albert Levan at Lund University demonstrates that there are forty-six human chromosomes. February 19 ... Tjio, J.-H.; Levan, A. (1956). "The chromosome number of man". Hereditas. 42: 1-6. doi:10.1111/j.1601-5223.1956.tb03010.x. ... June 20 - Total solar eclipse of 7 min 8 sec duration, the longest between the 11th and 22nd centuries, visible in Southeast ...

*KIAA1958

... is located on the long arm of chromosome 9 (9.q32) in humans on the plus strand from 115249248 to 115427597. Its mRNA ... "Homo sapiens gene C9orf147, encoding chromosome 9 open reading frame 147". AceView. Retrieved 1 May 2012. "Q9NRY2 (SOSSC_HUMAN ... C9orf147: Chromosome 9 open reading frame 147 has an unknown function. C9orf80: Chromosome 9 open reading frame 80 is a ... Protein KIAA1958 is a protein that in humans is encoded by the KIAA1958 gene. Orthologs of KIAA1958 go as far back in evolution ...

*LYL1

"Fluorescence in situ hybridization mapping of human chromosome 19: cytogenetic band location of 540 cosmids and 70 genes or DNA ... Protein lyl-1 is a protein that in humans is encoded by the LYL1 gene. LYL1 has been shown to interact with TCF3 and NFKB1. ... LYL1 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH). ... Kuo SS, Mellentin JD, Copeland NG, Gilbert DJ, Jenkins NA, Cleary ML (June 1991). "Structure, chromosome mapping, and ...

*KCNJ4

"The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. doi:10.1038/990031. PMID 10591208. Nehring RB, Wischmeyer ... KCNJ4 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) This article incorporates text from ... Makhina EN, Kelly AJ, Lopatin AN, Mercer RW, Nichols CG (1994). "Cloning and expression of a novel human brain inward rectifier ... Potassium inwardly-rectifying channel, subfamily J, member 4, also known as KCNJ4 or Kir2.3, is a human gene. Several different ...

*FZR1

2004). "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529-535. doi:10.1038/nature02399. PMID ... Fizzy-related protein homolog is a protein that in humans is encoded by the FZR1 gene. FZR1 has been shown to interact with ... Kramer, E R; Gieffers C; Hölzl G; Hengstschläger M; Peters J M (Nov 1998). "Activation of the human anaphase-promoting complex ... Sorensen CS, Lukas C, Kramer ER, Peters JM, Bartek J, Lukas J (Oct 2000). "Nonperiodic activity of the human anaphase-promoting ...

*L3MBTL

2004). "Imprinting of the human L3MBTL gene, a polycomb family member located in a region of chromosome 20 deleted in human ... 2001). "A high-resolution 6.0-megabase transcript map of the type 2 diabetes susceptibility region on human chromosome 20". ... 2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-71. doi:10.1038/414865a. ... "A human homolog of Drosophila lethal(3)malignant brain tumor (l(3)mbt) protein associates with condensed mitotic chromosomes". ...

*Chromosome 20 (human)

The following is a partial list of genes on human chromosome 20. For complete list, see the link in the infobox on the right. ... The following are some of the gene count estimates of human chromosome 20. Because researchers use different approaches to ... Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome". Genet Test. 1 (3): 225-229. doi:10.1089/ ... 2001). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-871. doi:10.1038/414865a. ...

*X chromosome

Since the father retains his X chromosome from his mother, a human female has one X chromosome from her paternal grandmother ( ... where the SRY region of the Y chromosome has recombined to be located on one of the X chromosomes. As a result, the XX ... "X chromosome". Genetics Home Reference. Retrieved 2017-05-06. "X chromosome". Human Genome Project Information Archive 1990- ... He called this chromosome an accessory chromosome and insisted, correctly, that it was a proper chromosome, and theorized, ...

*Isogenic human disease models

Hirata R, Chamberlain J, Dong R, Russell DW (July 2002). "Targeted transgene insertion into human chromosomes by adeno- ... Cancer is one such disease for which isogenic human disease models have been widely used. Human isogenic disease models have ... Isogenic human disease models are a family of cells that are selected or engineered to accurately model the genetics of a ... "Use of human cancer cell lines mitochondria to explore the mechanisms of BH3 peptides and ABT-737-induced mitochondrial ...

*Haplogroup O-M119

In human genetics, Haplogroup O-M119 is a Y-chromosome DNA haplogroup. Haplogroup O-M119 is a descendant branch of haplogroup O ... 1999). "Y-Chromosome Evidence for a Northward Migration of Modern Humans into Eastern Asia during the Last Ice Age". The ... 2000). "Y chromosome sequence variation and the history of human populations". Nature Genetics. 26 (3): 358-61. doi:10.1038/ ... genealogy Haplogroup Haplotype Human Y-chromosome DNA haplogroup Molecular phylogenetics Paragroup Subclade Y-chromosome ...

*Haplogroup O-M117

1999). "Y-Chromosome Evidence for a Northward Migration of Modern Humans into Eastern Asia during the Last Ice Age". The ... "Human Migration through Bottlenecks from Southeast Asia into East Asia during Last Glacial Maximum Revealed by Y Chromosomes". ... 2016), "Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences." Nature Genetics 2016 ... "Human Migration through Bottlenecks from Southeast Asia into East Asia during Last Glacial Maximum Revealed by Y Chromosomes". ...

*PRKX

... recombination between this gene and a related pseudogene on chromosome Y is a frequent cause of sex reversal disorder in XX ... Protein kinase, X-linked is a protein that in humans is encoded by the PRKX gene. This gene encodes a serine threonine protein ... Pseudogenes of this gene are found on chromosomes X, 15 and Y. GRCh38: Ensembl release 89: ENSG00000183943 - Ensembl, May 2017 ... GRCm38: Ensembl release 89: ENSMUSG00000035725 - Ensembl, May 2017 "Human PubMed Reference:". "Mouse PubMed Reference:". " ...

*Chromosome 7 (human)

Chromosome 7 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 7 ... A ring chromosome occurs when both ends of a broken chromosome are reunited. G-banding ideograms of human chromosome 7 In the ... See also: Category:Genes on human chromosome 7. The following is a partial list of genes on human chromosome 7. For complete ... "Chromosome 7". Genetics Home Reference. Retrieved 2017-05-06. "Chromosome 7". Human Genome Project Information Archive 1990- ...

*Chromosome 5 (human)

Chromosome 5 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 5 ... A ring chromosome occurs when both ends of a broken chromosome are reunited. G-banding ideograms of human chromosome 5 "Human ... See also: Category:Genes on human chromosome 5. The following is a partial list of genes on human chromosome 5. For complete ... Chromosome 5 is the 5th largest human chromosome, yet has one of the lowest gene densities. This is partially explained by ...

*NFIX

"Localisation of the human nuclear factor I/X (NFI/X) gene to chromosome 19p13 and detection of five other related loci at 1p21- ... Nuclear factor 1 X-type is a protein that in humans is encoded by the NFIX gene. NFI-X3, a splice variant of NFIX, regulates ... NFIX protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) This article incorporates text from ... Apt D, Liu Y, Bernard HU (1994). "Cloning and functional analysis of spliced isoforms of human nuclear factor I-X: interference ...
Orlando - A genome-wide study of blood and bone marrow samples from more than 1,300 adults with myeloid disorders has both confirmed the role of known or suspec
Bordelon, M R., "Malignant characteristics of somatic cell hybrids of normal human and malignant mouse cells. Abstr." (1974). Subject Strain Bibliography 1974. 446 ...
Our Luau Hibiscus Theme Candy Bar Wrapper is a great party favor for a luau theme party. Add birthday wishes for a birthday luau or congratulations for a grad

Next Generation Sequencing expression profiling of mitochondrial subunits in men with Klinefelter syndromeNext Generation Sequencing expression profiling of mitochondrial subunits in men with Klinefelter syndrome

Heterogeneous gene expression from the inactive X chromosome: An X-linked gene that escapes X inactivation in some human cell ... Methylation-specific PCR allows for fast diagnosis of X chromosome disomy and reveals skewed inactivation of the X chromosome ... located in the long arm of the inactive chromosome. Studies have shown that, in humans, around 15% of X-linked genes escape ... Detection of Y chromosome microdeletions and mitochondrial DNA mutations in male infertility patients. Genet Mol Res. 2012;11: ...
more infohttp://www.medsci.org/v15p0031.htm

Find Research Outputs
             - Macquarie UniversityFind Research Outputs - Macquarie University

Orientation in childrens human figure drawings: An aspect of graphic language. Goodnow, J. J. & Friedman, S., 1972, In : ... Staskun, B., 1972, In : Tetrahedron. 28, 19, p. 5069-5079 11 p.. Research output: Contribution to journal › Article › Research ... Talent, J. A., 1972, In : Journal of the Geological Society of Australia. 19, 1, p. 81-97 17 p.. Research output: Contribution ... Street, R., Jul 1972, In : Journal of Pure and Applied Algebra. 2, 2, p. 149-168 20 p.. Research output: Contribution to ...
more infohttps://researchers.mq.edu.au/en/publications/?format=&descending=false&page=11

Assignment of a gene required for infection with endogenous baboon virus to human chromosome 19<...Assignment of a gene required for infection with endogenous baboon virus to human chromosome 19<...

Assignment of a gene required for infection with endogenous baboon virus to human chromosome 19. Cytogenetics and Cell Genetics ... Assignment of a gene required for infection with endogenous baboon virus to human chromosome 19. / Brown, S.; Oie, H.; Francke ... title = "Assignment of a gene required for infection with endogenous baboon virus to human chromosome 19", ... T1 - Assignment of a gene required for infection with endogenous baboon virus to human chromosome 19 ...
more infohttps://utsouthwestern.pure.elsevier.com/en/publications/assignment-of-a-gene-required-for-infection-with-endogenous-baboo

Gene transcriptions/STAT5s/Laboratory - WikiversityGene transcriptions/STAT5s/Laboratory - Wikiversity

Four] clusters of zinc-finger genes [occur] on human chromosome 19".[20] ... "Apart from the somewhat unexpected location of Zfp35 on mouse chromosome 18 and of the AIBG orthologs on mouse chromosome 15 ... If active in humans or murine-like STAT5s occur within or beyond ZNF497 in this distal promoter, then human A1BG is transcribed ... "The human genome is estimated to contain 700 zinc-finger genes, which perform many key functions, including regulating ...
more infohttps://en.wikiversity.org/wiki/Gene_transcriptions/STAT5s/Laboratory

Chromosome 19 (human) - WikipediaChromosome 19 (human) - Wikipedia

Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 19". Genet Test. 1 (2): 145-9. ... The following is a partial list of genes on human chromosome 19. For complete list, see the link in the infobox on the right. ... The following are some of the gene count estimates of human chromosome 19. Because researchers use different approaches to ... People normally have two copies of this chromosome. Chromosome 19 spans more than 58.6 million base pairs, the building ...
more infohttps://en.wikipedia.org/wiki/Chromosome_19_(human)

StateMaster - Encyclopedia: Chromosome 22 (human)StateMaster - Encyclopedia: Chromosome 22 (human)

Chromosome 1 is one of the 23 pairs of chromosomes in humans. ... Chromosome 10 is one of the 23 pairs of chromosomes in humans ... genome.gov , 1999 Release: First Human Chromosome Sequenced (1094 words). Chromosome 22 is the first of 23 human chromosome ... Encyclopedia , Chromosome 22 (human). Chromosome 22 is one of the 23 pairs of chromosomes in humans. People normally have two ... Chromosome 11 is one of the 23 pairs of chromosomes in humans. ... Chromosome 12 is one of the 23 pairs of chromosomes in ...
more infohttp://www.statemaster.com/encyclopedia/Chromosome-22-%28human%29

Human BiologyHuman Biology

Unit 7 Human Evolution and Ecology. 23 Human Evolution. 24 Global Ecology and Human Interferences. 25 Human Population, ... Unit 7 Human Evolution and Ecology. 23 Human Evolution. 24 Global Ecology and Human Interferences. 25 Human Population, ... Unit 3 Movement and Support in Humans. 12 Skeletal System. 13 Muscular System Unit 4 Integration and Coordination in Humans. 14 ... Unit 3 Movement and Support in Humans. 12 Skeletal System. 13 Muscular System Unit 4 Integration and Coordination in Humans. 14 ...
more infohttps://www.mheducation.com/prek-12/product/human-biology-mader-windelspecht/1259245748.html

Comparative GenomicsComparative Genomics

Of Human Genes and the Department of Energy. Humans have 23 pairs of chromosomes that are made up of DNA (deoxyribonucleic acid ... The chromosomes contain the three billion characters that make up the human genome.. Sequencing is the work of determining the ... Imagine taking human chromosomes, shattering them into pieces of varying lengths, and putting them back together in a different ... Humans have this genetic material contained in 23 pairs of chromosomes, whereas mice have 20 pairs. But this difference ...
more infohttps://str.llnl.gov/str/Stubbs.html

Biology 2010 Student Edition Chapter 14, Human Heredity - Assessment - 14.1 Human Chromosomes - Understand Key Concepts/Think...Biology 2010 Student Edition Chapter 14, Human Heredity - Assessment - 14.1 Human Chromosomes - Understand Key Concepts/Think...

14.1 Human Chromosomes - Understand Key Concepts/Think Critically - Page 412 6 including work step by step written by community ... Chapter 14, Human Heredity - Assessment - 14.1 Human Chromosomes - Understand Key Concepts/Think Critically - Page 412. 6 ... Chapter 14, Human Heredity - Assessment - 14.1 Human Chromosomes - Understand Key Concepts/Think Critically - Page 412: 6. ... Forensics Lab - Pre-Lab - Using DNA to Identify Human Remains * Assessment - 14.1 Human Chromosomes - Understand Key Concepts/ ...
more infohttps://www.gradesaver.com/textbooks/science/biology/biology-2010-student-edition/chapter-14-human-heredity-assessment-14-1-human-chromosomes-understand-key-concepts-think-critically-page-412/6

Aldosterone Synthase Inhibitor Ameliorates Angiotensin II-Induced Organ Damage | CirculationAldosterone Synthase Inhibitor Ameliorates Angiotensin II-Induced Organ Damage | Circulation

Human CYP11B2 (aldosterone synthase) maps to chromosome 8q24.3. J Clin Endocrinol Metab. 1998; 83: 1033-1036. ... Human adrenocortical carcinoma NCI-H295R cells (American Type Culture Collection, Manassas, Va) were seeded in NBS 96-well ... Krug AW, Schuster C, Gassner B, Freudinger R, Mildenberger S, Troppmair J, Gekle M. Human epidermal growth factor receptor-1 ... The rats are transgenic for the human renin and angiotensinogen genes (dTGR). The animals develop hypertension and severe ...
more infohttp://circ.ahajournals.org/content/111/23/3087

Patent US20040057932 - Adeno-associated virus serotype 1 nucleic acid sequences, vectors and host ... - Google PatentsPatent US20040057932 - Adeno-associated virus serotype 1 nucleic acid sequences, vectors and host ... - Google Patents

Such motif can also be found in the human chromosome 19 AAV-2 pre-integration region. Finally, non-structural and structural ... The concentration of human α1-antitrypsin in mouse serum was measured using ELISA. The coating antibody is rabbit anti-human ... See, e.g., Fisher et al, Nature Med., 3(3):306-312 (March 1997) and W. C. Manning et al, Human Gene Therapy, 9:477-485 (Mar. 1 ... A preferred human dosage may be about 1 1013 to 1 1016 AAV genomes. The dosage will be adjusted to balance the therapeutic ...
more infohttp://www.google.com/patents/US20040057932

Centromere - WikipediaCentromere - Wikipedia

"Chromosomes, Chromosome Anomalies". *Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. ... The human genome includes six acrocentric chromosomes: 13, 14, 15, 21, 22 and the Y chromosome. In an acrocentric chromosome ... A chromosome is metacentric if its two arms are roughly equal in length. In a normal human karyotype, five chromosomes are ... Humans do not possess telocentric chromosomes. If the chromosomes centromere is located closer to its end than to its center, ...
more infohttps://en.wikipedia.org/wiki/Centromere

Interstitial deletions in DiGeorge syndrome detected with microclones from 22q11 | SpringerLinkInterstitial deletions in DiGeorge syndrome detected with microclones from 22q11 | SpringerLink

DiGeorge syndrome in humans is charaterized by immunodeficiency, heart defects, mental retardation and facial dysmorphism; ... we have microdissected and microcloned band q11 of human Chromosome (Chr) 22. Nineteen thousand clones were obtained from ... Senger, G., Lüdecke, H-J., Horsthemke, B., and Claussen, U.: Microdissection of banded human chromosomes. Hum Genet 84: 507-511 ... Localisation of 27 DNA markers to the region of human chromosome pter-22q11 deleted in patients with the DiGeorge syndrome and ...
more infohttps://link.springer.com/article/10.1007%2FBF00431253

Chromosome 13 (human)Chromosome 13 (human)

... human) Chromosome 13 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. ... Chromosome 13 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... It uses material from the Wikipedia article "Chromosome_13_(human)". A list of authors is available in Wikipedia. ... As a result, a person has the two usual copies of chromosome 13, plus extra material from chromosome 13 attached to another ...
more infohttps://www.bionity.com/en/encyclopedia/Chromosome_13_%28human%29.html

Plus itPlus it

Aurora-A and an interacting activator, the LIM protein Ajuba, are required for mitotic commitment in human cells. Cell 2003;114 ... Frequent gain of copy number on the long arm of chromosome 20 in human pancreatic adenocarcinoma. Genes Chromosomes Cancer 1997 ... A homologue of Drosophila aurora kinase is oncogenic and amplified in human colorectal cancers. EMBO J 1998;17:3052-65. ... Although individually, both vorinostat and MK-0457 have been reported to induce in vitro growth arrest and apoptosis of human ...
more infohttp://clincancerres.aacrjournals.org/content/14/19/6106

International human genome sequencing consortium describes finished human genome sequenceInternational human genome sequencing consortium describes finished human genome sequence

The consortium s analysis found the distribution of segmental duplications varies widely across human chromosomes. The Y ... The International Human Genome Sequencing Consortium, led in the United States by the National Human Genome Research Institute ... "Only a decade ago, most scientists thought humans had about 100,000 genes. When we analyzed the working draft of the human ... "Finished" doesn t mean that the human genome sequence is perfect. There still remain 341 gaps in the finished human genome ...
more infohttps://www.innovations-report.com/html/reports/life-sciences/report-35124.html

NIH Lambda Lunch MeetingsNIH Lambda Lunch Meetings

Rep Proteins in Preferential Integration of AAV DNA into Human Chromosome 19. 3/7/02*: Jason Kahn (UMd). 3/14/02*: Susan ... U.S. Department of Health and Human Services , National Institutes of Health , National Cancer Institute , USA.gov , Policies ... Rep Proteins in Preferential Integration of AAV DNA into Human=20 Chromosome 19" 3/7/02*: Jason Kahn (UMd) 3/14/02*: Susan ... Susan=20 Gottesman or Bob Weisberg. You can join the mailing list in the following ways. If youre at NIH,=20 send this message ...
more infohttps://schneider.ncifcrf.gov/toms/lambda/lambda/lambda.2002Jan08.12:10:57.html

Evolution of trappin genes in mammals | BMC Evolutionary Biology | Full TextEvolution of trappin genes in mammals | BMC Evolutionary Biology | Full Text

The numbers and compositions of trappin paralogs vary among mammalian species: human and sheep have a single trappin-2 gene; ... Clauss A, Lilja H, Lundwall A: A locus on human chromosome 20 contains several genes expressing protease inhibitor domains with ... Nineteen species of eutherian mammals were analyzed by a search for the presence of trappin genes within their genome databases ... Fritz H: Human mucus proteinase inhibitor (human MPI). Human seminal inhibitor I (HUSI-I), antileukoprotease (ALP), secretory ...
more infohttps://bmcevolbiol.biomedcentral.com/articles/10.1186/1471-2148-10-31

How human eggs end up with the wrong number of chromosomesHow human eggs end up with the wrong number of chromosomes

Ideally, eggs are packaged with a complete set of 23 chromosomes, but the process is prone to error, especially with age. In a ... human oocytes begin to divide into what will become mature eggs. ... How human eggs end up with the wrong number of chromosomes. ... Human oocytes pack the mothers DNA into 46 chromosomes. When they divide into eggs-a process called meiosis-these 46 ... The final product of meiosis is an egg cell with 23 chromosomes. Compared to other species, there is some evidence that human ...
more infohttps://phys.org/news/2016-10-human-eggs-wrong-chromosomes.html

The Y chromosome as a marker for the history and structure of human populationsThe Y chromosome as a marker for the history and structure of human populations

... as we have done for one class of XX male (22). In many societies, Y chromosomes and surnames are coinherited, and the ... The human Y chromosome determines maleness by causing the development of the testis. It is an unusual segment of the human ... The Y chromosome as a marker for the history and structure of human populations. This project, a Wellcome Trust Senior ... Jobling, M.A. and Tyler-Smith, C. (1995) Fathers and sons: the Y chromosome and human evolution. Trends Genet. 11, 449-456. ...
more infohttps://www.le.ac.uk/genetics/maj4/project.html

NIH Lambda Lunch MeetingsNIH Lambda Lunch Meetings

Rep Proteins in Preferential Integration of AAV DNA into Human Chromosome 19. 3/7/02*: Jason Kahn (UMd). 3/14/02*: Susan ... U.S. Department of Health and Human Services , National Institutes of Health , National Cancer Institute , USA.gov , Policies ... Rep Proteins in Preferential Integration of AAV DNA into Human=20 Chromosome 19" 3/7/02*: Jason Kahn (UMd) 3/14/02*: Susan ... Susan=20 Gottesman or Bob Weisberg. You can join the mailing list in the following ways. If youre at NIH,=20 send this message ...
more infohttps://schneider.ncifcrf.gov/toms/lambda/lambda/lambda.2002Jan01.22:50:42.html

PPT - VIRAL VECTORS IN GENE THERAPY PowerPoint presentation | free to download  - id: e047d-ZDc1ZPPT - VIRAL VECTORS IN GENE THERAPY PowerPoint presentation | free to download - id: e047d-ZDc1Z

can integrate preferentially into human chromosome 19. 20. AAV vectors 21. To produce an AAV vector, the rep and cap genes are ... Gene Therapy - The viral vector was administered to mice with the same deficiency as human ... The 240bp band is the human gene ... Human Gene Therapy Application Procedures - Human Gene Therapy Application Procedures Robert J. Hashimoto The University of ... human cells. The viral genes, gag, pol and env, are replaced with the transgene of interest and expressed on plasmids in the ...
more infohttp://www.powershow.com/view1/e047d-ZDc1Z/VIRAL_VECTORS_IN_GENE_THERAPY_powerpoint_ppt_presentation

Atypical Scrapie Prions from Sheep and Lack of Disease in Transgenic Mice Overexpressing Human Prion Protein - Volume 19,...Atypical Scrapie Prions from Sheep and Lack of Disease in Transgenic Mice Overexpressing Human Prion Protein - Volume 19,...

These data are consistent with the conclusion that prion disease is less likely to develop in humans after exposure to ... we inoculated transgenic mice that overexpressed human prion protein with brain tissue from sheep with natural field cases of ... Public and animal health controls to limit human exposure to animal prions are focused on bovine spongiform encephalopathy (BSE ... CDC twenty four seven. Saving Lives, Protecting People Centers for Disease Control and Prevention. CDC twenty four seven. ...
more infohttps://wwwnc.cdc.gov/eid/article/19/11/12-1341_article

PrionsPrions

... humans by transfusion, and study design and laboratory techniques are controversial. Evidence from Studies of Humans. Human ... The familial form (5% to 10% of cases) results from mutations in the coding sequence of the PrP gene located on chromosome 20. ... Human CJD has been reported to be transmitted to mice by injecting blood from human patients directly into mouse brain (39,40 ... non-human primates by the National Institutes of Health indicated that the blood of humans with CJD injected either ...
more infohttp://www.mad-cow.org/~tom/blood_cjd.html

Human BiologyHuman Biology

... , 15th Edition by Sylvia Mader and Michael Windelspecht (9781259689796) Preview the textbook, purchase or get a ... Human Biology helps students understand the main themes of biology through the lens of the human body. ... This 15th Edition improves scientific literacy, while establishing a foundation of knowledge in human biology and physiology. ... Sylvia Mader and Michael Windelspecht Human Biology https://www.mheducation.com/cover-images/Jpeg_250-high/1259689794.jpeg ...
more infohttps://www.mheducation.com/highered/product/human-biology-mader-windelspecht/1260152480.html
  • Chromosomes from those cells are then spread on a microscope slide. (llnl.gov)
  • Chromosome 22 is the second smallest human chromosome, spanning about 49 million base pairs (the building material of DNA ) and representing between 1.5 and 2 percent of the total DNA in cells . (statemaster.com)
  • We determined the effects of vorinostat (suberoylanalide hydroxamic acid) and/or MK-0457 (VX-680), an Aurora kinase inhibitor on the cultured human (HL-60, OCI-AML3, and K562) and primary acute myelogenous leukemia (AML) and chronic myelogenous leukemia (CML), as well as on the murine pro-B BaF3 cells with ectopic expression of the unmutated and mutant forms of Bcr-Abl. (aacrjournals.org)
  • Treatment with MK-0457 decreased the phosphorylation of Aurora kinase substrates including serine (S)10 on histone H3 and survivin, and led to aberrant mitosis, DNA endoreduplication as well as apoptosis of the cultured human acute leukemia HL-60, OCI-AML3, and K562 cells. (aacrjournals.org)
  • These findings merit in vivo testing of the combination against human AML and CML cells, especially against imatinib mesylate-resistant Bcr-AblT315I-expressing CML Cells. (aacrjournals.org)
  • Aurora A overexpression is also commonly observed in human acute leukemia cells ( 2 ). (aacrjournals.org)
  • Consistent with this, deregulated Aurora kinase activity in cancer cells leads to defects in centrosome function, aberrant spindle assembly, misalignment of chromosomes, abnormal cytokinesis, and genetic instability ( 6 , 11 ). (aacrjournals.org)
  • Chromosome 13 spans about 113 million base pairs (the building material of DNA ) and represents between 3.5 and 4 % of the total DNA in cells . (bionity.com)
  • This leads to egg cells that unintentionally contain too few or too many (22 or 24) chromosomes-a condition known as aneuploidy. (phys.org)
  • UBE2E3 expression and localization in telomerase-immortalized, human RPE cells was determined with a UBE2E3-specific antibody. (arvojournals.org)
  • Public and animal health controls to limit human exposure to animal prions are focused on bovine spongiform encephalopathy (BSE), but other prion strains in ruminants may also have zoonotic potential. (cdc.gov)
  • To investigate whether sheep infected with scrapie prions could be another source of infection, we inoculated transgenic mice that overexpressed human prion protein with brain tissue from sheep with natural field cases of classical and atypical scrapie, sheep with experimental BSE, and cattle with BSE. (cdc.gov)
  • These data are consistent with the conclusion that prion disease is less likely to develop in humans after exposure to naturally occurring prions of sheep than after exposure to epizootic BSE prions of ruminants. (cdc.gov)
  • The BSE prion is an epizootic agent and causes variant Creutzfeldt-Jakob disease (vCJD) in humans after dietary exposure ( 1 - 4 ). (cdc.gov)
  • This increase has rekindled speculation that atypical scrapie in small ruminants might be a source of human prion disease ( 11 ). (cdc.gov)
  • Please see Pattern and process in human genetic diversity: from genomes to populations for information about my current Fellowship project. (le.ac.uk)
  • Evidence of prehistoric demographic expansions has been detected in the mitochondrial diversity of most human populations and in a Y-chromosome STR analysis, but not in a previous study of 11 Y-chromosome SNPs in Europeans. (springer.com)
  • Bertorelle, G, Slatkin, M 1995 The number of segregating sites in expanding human populations, with implications for estimates of demographic parameters. (springer.com)
  • Other chromosomal conditions: Other changes in the number or structure of chromosome 22 can have a variety of effects, including mental retardation, delayed development, physical abnormalities, and other medical problems. (statemaster.com)
  • Although atypical scrapie has been discovered retrospectively in 2 UK sheep culled in 1987 and 1989 ( 14 , 15 ), the level and duration of human exposure to atypical scrapie prions are unknown, and this lack of knowledge confounds a cause-and-effect investigation of epidemiologic links between this animal disease and some form of CJD ( 11 ). (cdc.gov)
  • Because the time lag between exposure and development of vCJD may be decades, uncertainty about the extent of the pathogenicity of BSE for humans continues ( 5 ), and subclinical forms of infection may exist ( 6 , 7 ). (cdc.gov)
  • One approach involves the experimental transmission of disease by inoculating homogenized brain tissue from affected animals into transgenic mice that are overexpressing 1 of the 2 common polymorphic forms of the human PrP (either methionine or valine at residue 129) on a mouse PrP null background ( 16 ). (cdc.gov)
  • That said, pharmaceutical therapies for cognitive function are largely untried, and the limited human studies conducted to date have not been encouraging. (down-syndrome.org)
  • Extra material from chromosome 13 disrupts the course of normal development, causing the characteristic signs and symptoms of trisomy 13. (bionity.com)
  • Methods and Results- We investigated the effect of the CYP11B2 inhibitor FAD286, losartan, and the consequences of ADX in transgenic rats overexpressing both the human renin and angiotensinogen genes (dTGR). (ahajournals.org)
  • The rats are transgenic for the human renin and angiotensinogen genes (dTGR). (ahajournals.org)
  • Human Biology helps students understand the main themes of biology through the lens of the human body. (mheducation.com)
  • Human Biology features three different types of boxed readings. (mheducation.com)
  • This 15th Edition improves scientific literacy, while establishing a foundation of knowledge in human biology and physiology. (mheducation.com)
  • RODENTS and people may not appear to be closely related, but consider this the next time you look in a mirror: the genes of human beings and mice are 85 percent identical. (llnl.gov)
  • I think that the current knowledge based on animal work supports the view that it is time to start these human studies but success is no means certain. (down-syndrome.org)
  • Alonso, S, Armour, JA 2001 A highly variable segment of human subterminal 16p reveals a history of population growth for modern humans outside Africa. (springer.com)
  • Ideally, eggs are packaged with a complete set of 23 chromosomes, but the process is prone to error, especially with age. (phys.org)