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.

Identification and characterization of a zinc finger gene (ZNF213) from 16p13.3. (1/861)

During our search for the familial Mediterranean fever (FMF) gene, we identified by cDNA selection a 1.2 kb cDNA fragment representing a novel human gene that is expressed in a wide variety of tissues. This gene spans approx. 8.0 kb genomic DNA and has seven exons. Its 3' untranslated region contains a long tandem repeat that gives rise to a polymorphism with two alleles of approx. 1.1 kb and 1.0 kb, with the 1.1 kb allele in strong linkage disequilibrium with FMF in patients of different ethnic backgrounds. However, both genetic and mutational analyses have excluded this gene as the one responsible for FMF. The predicted 424 amino acid protein, designated ZNF213, contains three C2H2 zinc fingers, a Kruppel associated A box and a leucine rich motif (LeR domain/SCAN box), strongly suggestive of a transcription factor.  (+info)

Townes-Brocks syndrome. (2/861)

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malformations. Most patients with Townes-Brocks syndrome have normal intelligence, although mental retardation has been noted in a few.  (+info)

Analysis of p16 (CDKN2/MTS-1/INK4A) alterations in primary sporadic uveal melanoma. (3/861)

PURPOSE: To define more clearly the role of the tumor suppressor gene p16 in uveal melanoma by determining the relative contribution of all known mechanisms of p16 inactivation in this tumor. METHODS: A comprehensive genetic analysis of the p16 gene was performed in 33 primary sporadic ciliochoroidal and choroidal melanomas. Fourteen highly polymorphic microsatellite markers surrounding the p16 locus on chromosome 9p21 were used for the microsatellite analysis. Sequence analysis of the p16 gene was performed on those tumors with 9p21 loss of heterozygosity. To investigate methylation as an alternative mechanism of inactivation of p16, methylation-specific polymerase chain reaction was performed on all tumor DNA samples. RESULTS: Loss of heterozygosity (LOH) was found in 8 of 33 (24%) uveal melanomas. No evidence of a second region of LOH that did not include the p16 locus was found. Four cases had hemizygous losses including markers both distal and proximal to p16. Homozygous deletion of the p16 gene was detected in the 4 remaining cases by microsatellite analysis. Sequence analysis revealed no p16 mutations in the tumors with hemizygous loss of p16. Methylation of the 5' CpG island of p16 was found in one tumor with 9p21 LOH and in another without LOH. CONCLUSIONS: p16 inactivation by HD or methylation occurs in 27% of uveal melanomas, representing the most common molecular genetic alteration identified thus far in uveal melanoma.  (+info)

Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3. (4/861)

The recently identified Fanconi anaemia A (FAA) gene is located on chromosomal band 16q24.3 within a region that has been frequently reported to show loss of heterozygosity (LOH) in breast cancer. FAA mutation analysis of 19 breast tumours with specific LOH at 16q24.3 was performed. Single-stranded conformational polymorphism (SSCP) analysis on cDNA and genomic DNA, and Southern blotting failed to identify any tumour-specific mutations. Five polymorphisms were identified, but frequencies of occurrence did not deviate from those in a normal control population. Therefore, the FAA gene is not the gene targeted by LOH at 16q24.3 in breast cancer. Another tumour suppressor gene in this chromosomal region remains to be identified.  (+info)

Alternative splicing determines the intracellular localization of the novel nuclear protein Nop30 and its interaction with the splicing factor SRp30c. (5/861)

We report on the molecular cloning of a novel human cDNA by its interaction with the splicing factor SRp30c in a yeast two-hybrid screen. This cDNA is predominantly expressed in muscle and encodes a protein that is present in the nucleoplasm and concentrated in nucleoli. It was therefore termed Nop30 (nucleolar protein of 30 kDa). We have also identified a related cDNA with a different carboxyl terminus. Sequencing of the NOP gene demonstrated that both cDNAs are generated by alternative 5' splice site usage from a single gene that consists of four exons, spans at least 1800 nucleotides, and is located on chromosome 16q21-q23. The alternative 5' splice site usage introduces a frameshift creating two different carboxyl termini. The carboxyl terminus of Nop30 is rich in serines and arginines and has been found to target the protein into the nucleus, whereas its isoform is characterized by proline/glutamic acid dipeptides in its carboxyl terminus and is predominantly found in the cytosol. Interaction studies in yeast, in vitro protein interaction assays, and co-immunoprecipitations demonstrated that Nop30 multimerizes and binds to the RS domain of SRp30c but not to other splicing factors tested. Overexpression of Nop30 changes alternative exon usage in preprotachykinin and SRp20 reporter genes, suggesting that Nop30 influences alternative splice site selection in vivo.  (+info)

Comparative genomic hybridization of breast tumors stratified by histological grade reveals new insights into the biological progression of breast cancer. (6/861)

How does breast cancer progress? There is evidence both to support (S. W. Duffy et al., Br. J. Cancer, 64: 1133-1138, 1991; R. Rajakariar et al., Br. J. Cancer, 71: 150-154, 1995) and refute (M. Hakama et al., Lancet, 345: 221-224, 1995; R. R. Millis et al., Eur. J. Cancer, 34: 548-553, 1998) the hypothesis of dedifferentiation; the theory that as breast cancers grow they evolve from well differentiated (grade I) to poorly differentiated (grade III) tumors. We provide evidence to support the view that the majority of grade I tumors do not progress to grade III tumors. Comparative genomic hybridization was used to screen entire genomes of a large sample (40 grade I and 50 grade III) of invasive ductal breast carcinomas, stratified by grade. We found distinct genetic differences between grade I and grade III tumors. Significantly, we found that 65% of grade I tumors lost the long arm of chromosome 16 compared with only 16% of grade III tumors. This pattern of loss leads us to conclude that the majority of grade I tumors do not progress to grade III tumors. These findings have important implications because they suggest that different breast tumor grades may have distinct molecular origins, pathogenesis, and behavior and, therefore, potentially present distinct molecular targets for research and treatment.  (+info)

A novel lipopolysaccharide-induced transcription factor regulating tumor necrosis factor alpha gene expression: molecular cloning, sequencing, characterization, and chromosomal assignment. (7/861)

Lipopolysaccharide (LPS) is a potent stimulator of monocytes and macrophages, causing secretion of tumor necrosis factor alpha (TNF-alpha) and other inflammatory mediators. Given the deleterious effects to the host of TNF-alpha, it has been postulated that TNF-alpha gene expression must be tightly regulated. The nature of the nuclear factor(s) that control TNF-alpha gene transcription in humans remains obscure, although NF-kappaB has been suggested. Our previous studies pertaining to macrophage response to LPS identified a novel DNA-binding domain located from -550 to -487 in the human TNF-alpha promoter that contains transcriptional activity, but lacks any known NF-kappaB-binding sites. We have used this DNA fragment to isolate and purify a 60-kDa protein binding to this fragment and obtained its amino-terminal sequence, which was used to design degenerate probes to screen a cDNA library from THP-1 cells. A novel cDNA clone (1.8 kb) was isolated and fully sequenced. Characterization of this cDNA clone revealed that its induction was dependent on LPS activation of THP-1 cells; hence, the name LPS-induced TNF-alpha factor (LITAF). Inhibition of LITAF mRNA expression in THP-1 cells resulted in a reduction of TNF-alpha transcripts. In addition, high level of expression of LITAF mRNA was observed predominantly in the placenta, peripheral blood leukocytes, lymph nodes, and the spleen. Finally, chromosomal localization using fluorescence in situ hybridization revealed that LITAF mapped to chromosome 16p12-16p13.3. Together, these findings suggest that LITAF plays an important role in the activation of the human TNF-alpha gene and proposes a new mechanism to control TNF-alpha gene expression.  (+info)

An analysis of common isodisomic regions in five mUPD 16 probands. (8/861)

Intrauterine growth retardation (IUGR) with or without additional abnormalities is recognised as a common feature of maternal uniparental disomy for chromosome 16 (mUPD 16) and is usually associated with confined placental mosaicism (CPM). Although it is likely that the CPM largely contributes to the IUGR, postnatal growth retardation and other common abnormalities may also be attributed to the mUPD. Five cases with mUPD 16 and CPM were analysed for common regions of isodisomy using polymorphic markers distributed along the length of the chromosome. In each case the aberration was consistent with a maternal meiosis I error. Complete isodisomy was not detected in any of the patients although two patients were found to be mixed with both iso- and heterodisomy. Interestingly, the patient with the greater region of isodisomy was the most severely affected. The fact that there were no common regions of isodisomy in any of the patients supports the hypothesis that imprinted genes, rather than recessive mutations, may play a role in the shared phenotypes.  (+info)

Patient with adult polycystic kidney disease may present with bilateral enlargement of the kidneys on bimanual palpitation. The common symptoms and signs of adult polycystic kidney disease may include hypertension, pain in the loin or flank region due t
Rubinstein, J. "Broad thumb-hallux (Rubinstein-Taybi) Syndrome 1957-1988". Am J Med Gen Suppl . vol. 6. 1990. pp. 3-16. (An early review of 571 cases, this article provides a detailed description of the physical findings in this syndrome.). Wiley, S, Swayne, S, Rubinstein, J, Lanphear, N, Stevens, C. "Rubinstein-Taybi syndrome medical guidelines". Am J Med Genet. vol. 119A. 2003. pp. 101-110. (This article includes specific surveillance and intervention recommendations compiled by a group of pediatric experts.). Cantani, A, Gagliesi, D. "Rubinstein-Taybi syndrome. Review of 732 cases and analysis of typical traits". Eur Rev Med Pharmacol Sci. vol. 2. 1998. pp. 81-87. (This is an analysis of 732 cases and provides a summary of the physical findings of the syndrome and discusses epidemiology and genetics known at the time of publication.). Roelfsema, J, Peters, D. "Rubinstein-Taybi syndrome: clinical and molecular overview". Expert Rev Mol Med. vol. 9. 2007. pp. 1-15. (This article details the ...
In 1963, Rubinstein and Taybi first described a malformation syndrome characterized by distinctive facies, mental retardation, broad thumbs, and broad great toes as are seen in the images below. {file44122}{file44123}{file44124}Deletions in band 16p13 have been described in association with this disorder, and mutations in the cyclic adenosin...
hypothetical protein, A306_06942, Anapl_13162, AS27_07110, CBP, CBP/p300, CREB-binding protein, CREB binding protein (Rubinstein-Taybi syndrome), crebbp-a, crebbp-b, D623_10028045, E1A binding protein p300, EP300, H920_13788, hmm291030, KAT3A, M91_18874, MDA_GLEAN10009599, N301_13283, N302_12939, N303_04372, N307_13277, N308_10632, N309_02966, N311_11763, N312_01973, N321_00697, N326_12400, N327_01513, N332_08465, N334_05471, N335_14336, N336_02992, N339_02947, p300, p300/CBP, PAL_GLEAN10011621, RSTS, RTS, UY3_13419, Y1Q_016907, Z169_09090, crebbp ...
Looking for online definition of Adult polycystic kidneys in the Medical Dictionary? Adult polycystic kidneys explanation free. What is Adult polycystic kidneys? Meaning of Adult polycystic kidneys medical term. What does Adult polycystic kidneys mean?
Autosomal dominant polycystic kidney disease (ADPKD). Signs and symptoms of ADPKD often develop between the ages of 30 and 40. In the past, this type was called adult polycystic kidney disease, but children can develop the disorder.. Only one parent needs to have the disease for it to pass to the children. If one parent has ADPKD, each child has a 50 percent chance of getting the disease. This form accounts for about 90 percent of cases of polycystic kidney disease. ...
This information is intended for physicians and related personnel, who understand that medical information is often imperfect, and must be interpreted in the context of a patients clinical data using reasonable medical judgment. This website should not be used as a substitute for the advice of a licensed physician ...
ICCA, the International Congress and Convention Association is the global meetings industry network. ICCA can assist meeting organisers in finding the main specialists in handling, transporting, and accommodating international events. ICCA offers a variety of benefits for suppliers, such as networking, education, and promotion, as well as business opportunities through databases containing valuable information on congress organisers and details on international meetings. - ICCA - ICCA
The fragile gene, encompassing the chromosomal fragile site FRA3B, can be an early target of DNA damage in precancerous cells. can occur in regular lead and cells to regions of metaplasia with minimal FHIT expression. Loss of the next allele can result in complete lack of FHIT manifestation, which can be seen in many dysplastic Read More. ...
The CREBBP gene is associated with autosomal dominant Rubinstein-Taybi syndrome 1 (RSTS1) (MedGen UID: 48517) and is commonly deleted in the recurrent 16p13.3 microdeletion syndrome (OMIM: 610543), a severe form of RSTS resulting from a contiguous gene deletion involving CREBBP as well as other neighboring genes.
Rubinstein-Taybi syndrome (RSTS) is an uncommon genetic disorder characterised by a typical facies, small stature, broad angulated thumbs and intellectual impairment. Dental changes are a minor, yet significant component of the condition. Craniofacial growth retardation in RSTS is frequently complicated by unerupted teeth, while dental caries is related to the inherent intellectual deficit. Dental problems necessitate interdisciplinary management in terms of oral surgery, conservative dentistry, periodontics and orthodontics. When affected individuals are unco-operative, certain dental procedures may warrant general anaesthesia. In these instances, dental and medical staff will combine their expertise to enhance the well-being of the patient. In addition, specific dental changes may alert the medical practitioner to the possible diagnosis of RSTS. In this article we document the oro-dental manifestations and review the oro-dental approach in the management of three patients with RSTS. Our experience in
Acute myelomonocytic leukemia (AMMoL) is a form of acute myeloid leukemia which involves a proliferation of CFU-GM myeloblasts and monoblasts. It is classified under "M4" in the French-American-British classification (FAB).[1] It is classified under "AML, not otherwise classified" in the WHO classification.[2] Translocations have been observed.[3] Progression from myelodysplastic syndrome has been reported.[4] ...
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INFORMERER Annonseringsdato: Meddelelse nummer: 182 MEDDELELSER FRA NORSK ELEKTROTEKNISK KOMITE IEC-normer og tekniske rapporter CENELEC Europanormer (EN) CENELEC Harmoniseringsdokumenter (HD)
INFORMERER Annonseringsdato: Meddelelse nummer: 134 MEDDELELSER FRA NORSK ELEKTROTEKNISK KOMITE IEC-normer og tekniske rapporter CENELEC Europanormer (EN) CENELEC Harmoniseringsdokumenter (HD)
Adult polycystic kidney disease (also known as autosomal-dominant polycystic kidney disease) is a genetic disease characterized by bilateral massive enlargement of the kidney secondary to multiple large cysts. The classic presentation is a patient greater than 30-years-old presenting with flank pain and hematuria, found to have hypertension and progressive renal failure. The disease is associated with polycystic liver disease, berry aneurysms, and mitral valve prolapse. Other complications and associated findings are infection of the renal cysts, kidney stones, diverticula, and hernias. Ultrasound is diagnostic but may be accompanied with CT or MRI. No treatment is curative, but cysts may be drained when symptomatic and patients are encouraged to control their hypertension with medication. Also use this question to recall other conditions associated with berry aneurysms such as Ehlers-Danlos syndrome and Marfans syndrome ...
Rubinstein-Taybi syndrome (RSTS) is a rare condition with a prevalence of 1 in 125,000-720,000 births and characterized by clinical features that include facial, dental, and limb dysmorphology and growth retardation. Most cases of RSTS occur sporadically and are caused by de novo mutations. Cytogenetic or molecular abnormalities are detected in only 55% of RSTS cases. Previous genetic studies have yielded inconsistent results due to the variety of methods used for genetic analysis. The purpose of this study was to use whole exome sequencing (WES) to evaluate the genetic causes of RSTS in a young girl presenting with an Autism phenotype. We used the Autism diagnostic observation schedule (ADOS) and Autism diagnostic interview revised (ADI-R) to confirm her diagnosis of Autism. In addition, various questionnaires were used to evaluate other psychiatric features. We used WES to analyze the DNA sequences of the patient and her parents and to search for de novo variants. The patient showed all the typical
Collision between the molecular machineries responsible for transcription and replication is an important source of genome instability. Certain transcribed regions known as chromosomal fragile sites...
1Molecular Pathology and Cytogenetic Ward, Pathology Department, School of Medicine, Tehran University of Medical Sciences,Tehran, Iran; Molecular Pathology and Cytogenetic Ward, Pathology Department, School of Medicine, Shiraz University of Medical Sciences, Shiraz, ...
A total of 82 genes have now been located on chromosome 16, with 8 new assignments since HGM 11. Three new disease-gene localizations were reported at the workshop.. Two patients with Rubinstein-Taybi syndrome (dysmorphic facies, broad thumbs, big toes, and mental retardation) were reported to have a reciprocal translocation involving the short arm of chromosome 16. Martijn Breuning (Leiden University, Netherlands) reported that 6 of 24 patients with this syndrome were found by FISH to have submicroscopic deletions.. The second disease localization was reported by Dan Kastner (NIH, Bethesda). Familial Mediterranean Fever, an autosomal recessive disorder characterized by acute attacks of fever with sterile peritonitis, pleurisy, or synovitis, was genetically mapped to the chromosome 16 short arm. Linkage disequilibrium between different ethnic groups strongly suggests the presence of at least two mutant alleles with different clinical manifestations.. The third new disease assignment was a gene ...
KAT7 / Hbo1 / MYST2兔单克隆抗体[EPR7194(B)](ab124993)可与小鼠, 大鼠, 人样本反应并经WB, Flow Cyt实验严格验证,被1篇文献引用。所有产品均提供质保服务,中国75%以上现货。
In this study, we demonstrated that: (a) WWOX is altered by deletion and/or aberrant expression in 4 of 9 pancreatic cancer cell lines (44%) and 6 of 15 primary pancreatic adenocarcinomas (40%); (b) promoter hypermethylation of WWOX, including −37 position site-specific methylation, is detected in 2 cell lines (22%) and in 2 samples (13%), and treatment with the demethylating agent 5-AZAC elevated significantly WWOX expression in Hs766T; (c) all of the cell lines showed low levels of WWOX expression using real-time reverse transcription-PCR and Western blot, and 6 primary cases (40%) showed a statistically significant reduction in WWOX expression; and (d) transfection with WWOX induced apoptosis and suppressed colony formation in cell lines.. The WWOX gene was identified recently as a tumor suppressor gene at 16q23.3-24.1, a chromosome region that spans the common fragile site FRA16D (8, 9, 10, 11) . Several studies have revealed alterations of WWOX in several types of human cancers (8, 9, 10, ...
From NCBI Gene:. The gene variously symbolized ALL1, HRX, or MLL located on 11q23 has been demonstrated to be fused with a number of translocation partners in cases of leukemia. t(1;11)(q21;q23) translocations that fused the MLL gene to a gene on chromosomal band 1q21 in 2 infants with acute myelomonocytic leukemia have been demonstrated. The N-terminal portion of the MLL gene is critical for leukemogenesis in translocations involving band 11q23. This gene encodes 90 amino acids. It was found to be highly expressed in the thymus but not in peripheral lymphoid tissues. In contrast to its restricted distribution in normal hematopoietic tissue, this gene was expressed in all leukemic cell lines tested. [provided by RefSeq, Jul 2008]. From UniProt: ...
Telomeres and genes encoding 45S ribosomal RNA (rDNA) are frequently located adjacent to each other on eukaryotic chromosomes. Although their primary roles are different, they show striking similarities with respect to their features and additional functions. Both genome domains have remarkably dynamic chromatin structures. Both are hypersensitive to dysfunctional histone chaperones, responding at the genomic and epigenomic levels. Both generate non-coding transcripts that, in addition to their epigenetic roles, may induce gross chromosomal rearrangements. Both give rise to chromosomal fragile sites, as their replication is intrinsically problematic. However, at the same time, both are essential for maintenance of genomic stability and integrity. Here we discuss the structural and functional inter-connectivity of telomeres and rDNA, with a focus on recent results obtained in plants.. ...
Telomeres and genes encoding 45S ribosomal RNA (rDNA) are frequently located adjacent to each other on eukaryotic chromosomes. Although their primary roles are different, they show striking similarities with respect to their features and additional functions. Both genome domains have remarkably dynamic chromatin structures. Both are hypersensitive to dysfunctional histone chaperones, responding at the genomic and epigenomic levels. Both generate non-coding transcripts that, in addition to their epigenetic roles, may induce gross chromosomal rearrangements. Both give rise to chromosomal fragile sites, as their replication is intrinsically problematic. However, at the same time, both are essential for maintenance of genomic stability and integrity. Here we discuss the structural and functional inter-connectivity of telomeres and rDNA, with a focus on recent results obtained in plants.. ...
This information is intended for physicians and related personnel, who understand that medical information is often imperfect, and must be interpreted in the context of a patients clinical data using reasonable medical judgment. This website should not be used as a substitute for the advice of a licensed physician ...
ウサギ・ポリクローナル抗体 ab70183 交差種: Ms,Rat,Hu 適用: WB,IP,ELISA,IHC-P,ICC/IF…KAT7 / Hbo1 / MYST2抗体一覧…画像、プロトコール、文献などWeb上の情報が満載のアブカムの Antibody…
Mutations in the coactivator CREB-binding protein (CBP) are a major cause of the human skeletal dysplasia Rubinstein-Taybi syndrome (RTS); however, the mechanism by which these mutations affect skeletal mineralization and patterning is unknown. Here, we report the identification of 3-phosphoinositide-dependent kinase 1 (PDK1) as a key regulator of CBP activity and demonstrate that its functions map to both osteoprogenitor cells and mature osteoblasts. In osteoblasts, PDK1 activated the CREB/CBP complex, which in turn controlled runt-related transcription factor 2 (RUNX2) activation and expression of bone morphogenetic protein 2 (BMP2). These pathways also operated in vivo, as evidenced by recapitulation of RTS spectrum phenotypes with osteoblast-specific Pdk1 deletion in mice (Pdk1osx mice) and by the genetic interactions observed in mice heterozygous for both osteoblast-specific Pdk1 deletion and either Runx2 or Creb deletion. Finally, treatment of Pdk1osx and Cbp+/- embryos with BMPs in utero ...
VI.A.004. Acute eosinophilic leukemia. (A) Blood film. Two blast cells, two neutrophilic cells with dumbbell nuclei (pseudo-Pelger cells) and an abnormal eosinophil with five-lobed nucleus. (B) Blood film. Two blast cells, two neutrophilic cells with dumbbell nuclei (pseudo-Pelger cells) and an abnormal eosinophil with five-lobed nucleus. (C) Marrow section. Multiple blast cells and eosinophils in various stages of maturation. (D) Marrow film. Peroxidase stain. Positive reaction (black reaction product) in myeloblasts and immature eosinophils.. ...
Autosomal Recessive Polycystic Kidney Disease is also called Infantile Polycystic Kidney Disease, which is rarely seen in clinic and babies with the disease die shortly after birth except few ones can live to childhood or adulthood. Autosomal Dominant Polycystic Kidney Disease, also named Adult Polycystic Kidney Disease, is quite commonly seen, which doesnt show obvious symptom in the early stage but has augmented both in number and in size once it is found. Therefore, earlier treatment becomes quite important. How can Polycystic Kidney Disease be found ...
EC 0731 is a water-soluble, folate-sirolimus conjugate, under development with Endocyte for the treatment of autosomol dominant polycystic kidney disease. The
Background: iCCA is the 2nd most common liver malignancy and with a poor patient prognosis. The ABC-02 study established gemcitabine+cisplatin (gem-cis) as the standard of care (SOC) in 1st line (1L) systemic chemotherapy (CT). The objective was to examine the treatment (tx) patterns and time trends in the tx received by patients (pts) with iCCA in the United States before and after ABC-02 study was published. Methods: Retrospective data from the Optum Research Database, which included commercial and Medicare Advantage health plan members between January 1, 2006 and June 30, 2018, were used. Eligible pts were aged ≥ 18 years; had ≥ 2 nondiagnostic claims of primary iCCA diagnosis (International Classification of Disease [ICD]-9: 155.1 or ICD-10: C22.1) in the identification period (July 01, 2006-March 31, 2018); and had 6 months continuous enrollment prior to and ≥ 3 months follow-up (or less due to death) from the date of first diagnosis. Tx patterns in the periods before and after ABC-02 ...
core binding factor alpha: core binding factor plays a key role in several development pathways and in human disease; has been sequenced
Secreted modular calcium binding protein-1 (Smoc-1) belongs to the BM-40 family which has been implicated with tissue remodeling, angiogenesis and bone mineralization. Besides its anticipated role in embryogenesis, Smoc-1 has been characterized only in a few mammalian species. We made use of the consensus sequence (5 CACCTCTCCACCTGCC 3) of 33.15 repeat loci to explore the buffalo transcriptome and uncovered the Smoc-1 transcript tagged with this repeat. The main objective of this study was to gain an insight into its structural and functional organization, and expressional status of Smoc-1 in water buffalo, Bubalus bubalis. We cloned and characterized the buffalo Smoc-1, including its copy number status, in-vitro protein expression, tissue & age specific transcription/translation, chromosomal mapping and localization to the basement membrane zone. Buffalo Smoc-1 was found to encode a secreted matricellular glycoprotein containing two EF-hand calcium binding motifs homologous to that of BM-40/SPARC
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small fluid-filled sacs called cysts to develop in the kidneys.. Although children affected by ADPKD are born with the condition, it rarely causes any noticeable problems until the cysts grow large enough to affect the kidneys functions.. In most cases, this does not occur until a person is between 30 and 60 years of age. Less commonly, children or older people may have noticeable symptoms as a result of ADPKD.. When ADPKD reaches this stage, it can cause a wide range of problems, including:. ...
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small fluid-filled sacs called cysts to develop in the kidneys.. Although children affected by ADPKD are born with the condition, it rarely causes any noticeable problems until the cysts grow large enough to affect the kidneys functions.. In most cases, this does not occur until a person is between 30 and 60 years of age. Less commonly, children or older people may have noticeable symptoms as a result of ADPKD.. When ADPKD reaches this stage, it can cause a wide range of problems, including:. ...
Realmyst has by far the best graphics of all fthe Myst games.I have played every Myst game available. The Walkthrough for Realmyst is a little different than that of the original Myst game, but most of it is the same. Of course, the last chapter of Realmyst is brand new.Once you have played Realmyst, you will never go back to the original game or to The Masterpiece version. Happy gaming ...
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... a type-B human may actually be more closely related to type-B chimp than type-B human is related to type-A human, from the ... One lungfish has the record for largest genome at 133 billion base pairs compared to our 3 billion base pairs. ... An example of heterozygote advantage is that the males who have only 1 copy of the X-chromosome, remained dichromats with ... Timeline of human evolution. References[edit]. *^ a b c d Dawkins, Richard; Wong, Yan (2016). The Ancestor's Tale: A Pilgrimage ...
... never have more than three pairs.[43] Using this criterion, the earliest known metatherian is Sinodelphys szalayi, which lived ... The ancestral number of chromosomes has been estimated to be 2n = 14. ... metatherians possess four pairs of molar teeth in each jaw, whereas eutherian mammals (including true placentals) ... Retrieved 16 March 2010.. *^ Hu, Y.; Meng, J.; Li, C.; Wang, Y. (2010). "New basal eutherian mammal from the Early Cretaceous ...
Traut, W.; Marec, F. (August 1997). "Sex Chromosome Differentiation in Some Species of Lepidoptera (Insecta)". Chromosome ... Butterfly caterpillars have three pairs of true legs on the thoracic segments and up to six pairs of prolegs arising from the ... "Human Rights Watch. 24 September 2014. Retrieved 8 September 2015. a 22-year-old transgender woman sports a tattoo of a ... Each of the three thoracic segments has two legs (among nymphalids, the first pair is reduced and the insects walk on four legs ...
In humans, the major route of excretion of most arsenic compounds is via the urine. The biological half-life of inorganic ... Arsenic is reported to cause DNA modifications such as aneuploidy, micronuclei formation, chromosome abnormality, deletion ... which interacts with the arsenic lone pair to form an As−C bond, leaving SAH.[31] ... Jomova, K; Jenisova, Z (2011). "Arsenic: Toxicity, oxidative stress and human disease". Journal of Applied Toxicology. 31 (2): ...
Some genes come from only one parent, like genes on the human Y chromosome which is passed only from father to son. ... and that his seven traits each occur on a separate chromosome pair, an extremely unlikely occurrence if they were chosen at ... Genetics of human behaviourEdit. Many well-known disorders of human behaviour have a genetic component. This means that their ... Since human beings are not bred experimentally, human genetics must be studied by other means. One recent way is by studying ...
"MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice". ... Yi W, Wu X, Lee TH, Doggett NA, Her C (Jul 2005). "Two variants of MutS homolog hMSH5: prevalence in humans and effects on ... Her C, Wu X, Griswold MD, Zhou F (Feb 2003). "Human MutS homologue MSH4 physically interacts with von Hippel-Lindau tumor ... Räschle M, Dufner P, Marra G, Jiricny J (Jun 2002). "Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha ...
... highly variable or extremely numerous sequences that cannot be aligned solely by human effort. Instead, human knowledge is ... Although DNA and RNA nucleotide bases are more similar to each other than are amino acids, the conservation of base pairs can ... for example a chromosome sequence). In that case, the short sequence should be globally (fully) aligned but only a local ( ... A DNA dot plot of a human zinc finger transcription factor (GenBank ID NM_002383), showing regional self-similarity. The main ...
This breakthrough helped further relate OCD in humans to CCD in canines. Canine chromosome 7 is expressed in the hippocampus of ... Rats became significantly more tolerant to morphine when they had been exposed to a paired administration than those rats that ... It can be difficult to attribute human afflictions to non-human animals.[13] ... A chromosome has been located in dogs that confers a high risk of susceptibility to OCD.[20] Canine chromosome 7 has been found ...
The DNA of chromosome 1 in the human genome has about 249 million base pairs, each with an average mass of about 650 Da, or 156 ... The total binding energy of the six electrons in a carbon-12 atom is 1030.1089 eV = 1.650 4163×10−16 J: Eb/muc2 = 1.105 8674×10 ... "Damped elastic recoil of the titin spring in myofibrils of human myocardium". Proc. Natl. Acad. Sci. U.S.A. 100 (22): 12688-93 ... Chemists choose to define the AMU as 1/16 of the average mass of an oxygen atom as found in nature; that is, the average of the ...
In South Indian weddings, particularly Tamil weddings, banana trees are tied in pairs to form an arch as a blessing to the ... There is a long racist history of describing people of African descent as being more like monkeys than humans, and due to the ... Cultivars are placed in groups based on the number of chromosomes they have and which species they are derived from. Thus the ... The human body maintains relatively tight homeostatic control over potassium levels. This means that the consumption of foods ...
Albrecht B, Weber K, Pongs O (1995). "Characterization of a voltage-activated K-channel gene cluster on human chromosome 12p13 ... The edited adenosine is found in a 6-base pair duplex region. Mutation experiment in the region near the 6-base pair duplex ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. .mw-parser-output ... "KCNA1 - Potassium voltage-gated channel subfamily A member 1 - Homo sapiens (Human) - KCNA1 gene & protein". www.uniprot.org.. ...
"The American Journal of Human Genetics. 93 (6): 999-1000. doi:10.1016/j.ajhg.2013.11.001. PMC 3852927.. ... The changes in the evening primrose were later shown to be caused by chromosome duplications (polyploidy) rather than gene ... four or five pairs of possible allelomorphs, the various homo- and hetero-zygous combinations might, on seriation, give so near ... implying two pairs of alleles (two Mendelian factors); and that crossing a red-grained Swedish velvet wheat with a white one ...
The Science Behind the Human Genome Project Archived 2 January 2013 at the Wayback Machine Human Genome Project Information, US ... The aphid species can be identified by color, time of year, and by differences in the cornicles (small paired projections from ... yielding unequal segregation of the chromosomes (aneuploids). Even in the case when a triploid plant can produce a seed (apples ... The larynx in the human throat has been called the "Adam's apple" because of a notion that it was caused by the forbidden fruit ...
In a diploid cell retrieval may also occur by pairing with a non-sister homologous chromosome, as occurs especially during ... In humans, the leading cause of cancer deaths worldwide is lung cancer, including non small cell lung carcinoma (NSCLC) which ... Retrieval can occur by pairing with a sister chromosome produced during a preceding round of replication. ... Therefore, accurate repair of the damage depends on retrieving the lost information from an undamaged homologous chromosome in ...
This chromosome is a circular DNA molecule which contains 5,342,073 nucleotide pairs and 5,043 genes, of which 4,988 encode ... it is used by humans for the production of biofertilizers, food additives, and some biopolymers. The first representative of ... The fraction of guanine + cytosine pairs is 65 mole percent. The number of chromosomes in the cells and the DNA content ... The nucleotide sequence of chromosomes of Azotobacter vinelandii, strain AvOP, is partially determined. ...
... such as in chromosome 1. Chromosome 1 is the largest human chromosome with approximately 220 million base pairs, and would be ... The set of chromosomes in a cell makes up its genome; the human genome has approximately 3 billion base pairs of DNA arranged ... Adenine pairs with thymine and guanine pairs with cytosine, forming A-T and G-C base pairs.[18][19] ... A Hoogsteen base pair is a rare variation of base-pairing.[27] As hydrogen bonds are not covalent, they can be broken and ...
Some anticodons can pair with more than one codon due to a phenomenon known as wobble base pairing. Frequently, the first ... International Human Genome Sequencing Consortium) (February 2001). "Initial sequencing and analysis of the human genome" (PDF) ... These genes are found on all chromosomes, except the 22 and Y chromosome. High clustering on 6p is observed (140 tRNA genes), ... The acceptor stem is a 7- to 9-base pair (bp) stem made by the base pairing of the 5'-terminal nucleotide with the 3'-terminal ...
... chromosome translocation in a human leukemia T-cell line indicates that putative regulatory regions are not altered". Proc. ... 3.2) Paired box. PAX (1, 2, 3, 4, 5, 6, 7, 8, 9) ... ARID (1A, 1B, 2, 3A, 3B, 4A) • CAP • IFI (16, 35) • MLL (2, 3, ... Astrin SM, Laurence J (1992). "Human immunodeficiency virus activates c-myc and Epstein-Barr virus in human B lymphocytes". Ann ... Guilhot S, Petridou B, Syed-Hussain S, Galibert F (1989). "Nucleotide sequence 3' to the human c-myc oncogene; presence of a ...
The chapters are numbered for the pairs of human chromosomes, one pair being the X and Y sex chromosomes, so the numbering goes ... The book devotes one chapter to each pair of human chromosomes. Since one (unnumbered) chapter is required to discuss the sex ... the chapters matching the 23 pairs of human chromosomes, and notes that Genome is the third of Ridley's books that "tries to ... The impact of stress on the human body is described starting with the creation of hormones by the CYP17 gene on chromosome 10. ...
... pairs of assigned females. Among dizygotic or genetically non-identical twin pairs, there was only 1 of 38 (2.6%) pairs where ... Research has shown that people with CAH and XX chromosomes will be more likely to be same sex attracted,[25] and at least 5.2% ... Gooren L (November 2006). "The biology of human psychosexual differentiation". Hormones and Behavior. 50 (4): 589-601. doi: ... In 2013, a twin study combined a survey of pairs of twins where one or both had undergone, or had plans and medical approval to ...
Toll-like receptor 2 also known as TLR2 is a protein that in humans is encoded by the TLR2 gene.[5] TLR2 has also been ... paired with TLR-1 or TLR-6. TLR2 is also found in the epithelia of air passages, pulmonary alveoli, renal tubules, and the ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. .mw-parser-output ... TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen- ...
... more than 1 million pairs), Sweden (61,000 pairs), Finland (39,000 pairs) and Norway (14,000 pairs). Although it also breeds ... In 2016, two studies further pinpointed the responsible region to chromosome 11 and a 4.5-Mb covering chromosomal rearrangement ... Relationship with humans[edit]. 1897 illustration of ruffs being trapped for food with a net ... The European population of 200,000-510,000 pairs, occupying more than half of the total breeding range, seems to have declined ...
Unlike other chromosomes, Y chromosomes generally do not come in pairs. Every human male (excepting those with XYY syndrome) ... A human male should largely share the same Y chromosome as his father, give or take a few mutations; thus Y chromosomes tend to ... which in fact have been investigated in humans by the International HapMap Project.[5][6] Thirdly, many human genetic testing ... "American Journal of Human Genetics. 89 (3): 382-397. doi:10.1016/j.ajhg.2011.07.023. PMC 3169815. PMID 21855840.. ...
Karyotype of a human being, showing 22 pair of autosomal chromosomes and both the XX female and the XY male possibilities for ... As other non-human extant hominidae have 48 chromosomes it is believed that the human chromosome 2 is the end result of the ... Males have XY sex chromosomes and females have XX sex chromosomes. The sex chromosomes are the largest chromosomes and ... Shared synteny of human chromosome 17 loci in Canids. *An atlas of the chromosome numbers in animals (1951); PDF downloads of ...
Sterility in a non-polyploid hybrid is often a result of chromosome number; if parents are of differing chromosome pair number ... Human influence[edit]. Anthropogenic hybridization[edit]. Hybridization is greatly influenced by human impact on the ... For example, donkeys have 62 chromosomes, horses have 64 chromosomes, and mules or hinnies have 63 chromosomes. Mules, hinnies ... In humans[edit]. Main article: Interbreeding between archaic and modern humans. There is evidence of hybridisation between ...
According to a 2000 study of Y-chromosome sequence variation,[35] human Y-chromosomes trace ancestry to Africa, and the ... As of 2004, the human nucleotide diversity was estimated to be 0.1%[10] to 0.4% of base pairs.[11] In 2015, the 1000 Genomes ... See also: Human evolutionary genetics § Modern humans, and Recent human evolution. Recent African origin of modern humans[edit] ... Human genome projects are scientific endeavors that determine or study the structure of the human genome. The Human Genome ...
Humans carry pairs of chromosomes, so each individual possesses two copies of the gephyrin gene. Dark blue and red horizontal ... XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (1): 65-73. ... David-Watine B (2001). "The human gephyrin (GPHN) gene: structure, chromosome localization and expression in non-neuronal cells ... Gephyrin is a protein that in humans is encoded by the GPHN gene.[5][6][7][8][9] ...
Acute and chronic effects of an aromatase inhibitor on pair-maintenance behavior of water-restricted zebra finch pairs. ... The aim of this study was to analyze this relationship for the porcine lumbar spine and to compare it with that of the human ... evaluation of results on the surgical ward These maps have allowed detection of polymorphism on all three chromosomes. ... Proteinuria in human immunodeficiency virus (HIV)-infected individuals has been associated with poorer outcomes. ...
Loss of the EF3056 or EF1094 loci in Erm-sensitive bacteria was demonstrated by PCR using primer pair EF3056e-f1/EF3056e-r1 or ... Corynebacterium diphtheriae employs specific minor pilins to target human pharyngeal epithelial cells. Mol. Microbiol. 64 : 111 ... sortase encoded elsewhere on the chromosome (2, 29, 45) or by the pilus-associated sortase enzyme itself, as has been reported ... This question is for testing whether or not you are a human visitor and to prevent automated spam submissions. ...
br /,,br /,,strong,Need assistance evaluating antibodies in FcRn mice? ,/strong,,strong,Human preclinical pharmacokinetic (PK) ... to test potential immunogenic hIgGs and to perform xenograft studies in addition to evaluating the pharmocokinetics of human ... Tg mice express a human alpha chain ,em,FCGRT,/em, molecule in lieu of the endogenous mouse ,em,Fcgrt,/em,. The ,em,scid,/em, ... Chromosome. 2. Molecular Note. A 34Kb fragment of a BAC containing the entire human FCGRT , Fc fragment of IgG, receptor, ...
... one pair of micro-surgical scissors, one pair of fine, narrow tipped surgical scissors, one pair of medium tipped scissors, and ... are more common in human males than in females, while the female human brain appears more susceptible to Alzheimers disease ( ... or sex-determination region on the Y chromosome, is responsible for testes formation and is commonly used as a sex marker. We ... Using two pair of sharp, extra-fine forceps, hold the brain hemisphere open with one hand and cut the hippocampus away from the ...
Human-caused Phenomenon or Process. B2.1.1. Environmental Effect of Humans. B2.2. Natural Phenomenon or Process. B2.2.1. ... Chromosome(s) 7 and/or 5 monosomies or deletions are typical of alkylating agent-induced AML, while balanced translocations ... in 20 diagnosis/relapse pairs relative to germ line. ... Humans Animals + Gender. And for: Male Female + Age. And for ... human; 0 / G-T mismatch-binding protein; 0 / IKZF1 protein, human; 0 / Neoplasm Proteins; 0 / Trans-Activators; 148971-36-2 / ...
The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 54 ... Browse Matched Antibody Pairs. *Browse Proteins and Peptides. *Search Knockout (KO) Validated Antibodies ... Molecular cloning and characterization of human Frizzled-8 gene on chromosome 10p11.2. (PMID: 11295046) Saitoh T … Katoh M ( ... Recombinant Human Frizzled-8 Fc Chimera Protein, CF (6129-FZ) * Recombinant Human Frizzled-8 Fc Biotinylated Protein, CF ( ...
Chromosomes, Human, Pair 22 Medicine & Life Sciences * Carcinoma Medicine & Life Sciences View full fingerprint ... Background: The adenomatous polyposis coli (APC) locus on chromosome 5q21-22 shows frequent loss of heterozygosity (LOH) in ... N2 - Background: The adenomatous polyposis coli (APC) locus on chromosome 5q21-22 shows frequent loss of heterozygosity (LOH) ... AB - Background: The adenomatous polyposis coli (APC) locus on chromosome 5q21-22 shows frequent loss of heterozygosity (LOH) ...
... that the genome of Gloeobacter violaceus was comprised of a single circular chromosome that contained 4,659,019 base pairs. The ... thus these colonies are large enough to be visible with the human eye [2]. Gloeobacter violaceus is sensitive to strong light ... Graduate School of Human and Environmental Studies, Kyoto University, Japan. ... violaceus and all species of the genus Gloeobacter are non-pathogenic thus they do not cause any known diseases to humans, ...
Chromosomes, Human, Pair 8 - genetics , Recurrence , Humans , Middle Aged , Male , Neoplasm Proteins - metabolism , Gene ... HUMAN BASOPHILS , IN-VITRO , BONE-MARROW , LOW-DENSITY-LIPOPROTEIN , PLASMACYTOID T-CELLS , HUMAN CD68 , IMMUNOLOGY , ... CHROMOSOME-21 IAMP21 , Rabbits , Translocation, Genetic , Humans , Child, Preschool , Immunophenotyping , In Situ Hybridization ... HUMAN BASOPHILS , COLONY-STIMULATING FACTOR , IMMUNOPHENOTYPIC ANALYSIS , HEMATOPOIETIC STEM-CELLS , BONE-MARROW , DISEASE , ...
... sealing during cell process clearance in Caenorhabditis elegans Linear assembly of a human centromere on the Y chromosome ... Carbapenem resistance attenuates ST258 Klebsiella pneumoniae in vivo A library of human gut bacterial isolates paired with ... of human embryonic stem cells onto a partially wounded human cornea in vitro Small molecule mesengenic induction of human ... first-in-human trial Common germline variants of the human APOE gene modulate melanoma progression and survival In vivo ...
Bacterial artificial chromosome (BAC) libraries of pulse crops are essential genomic resources that have the potential to ... Pulse crops are considered minor on a global scale despite their nutritional value for human consumption. Therefore, they are ... H. Shizuya, B. Birren, U. J. Kim et al., "Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in ... Bacterial Artificial Chromosome Libraries of Pulse Crops: Characteristics and Applications. Kangfu Yu. 1. 1Greenhouse and ...
novel protein similar to human and mouse leishmanolysin-like (metallopeptidase M8 family) (LMLN). 0.012. ... paired-like homeobox 2a. 0.022. dip2c. DIP2 disco-interacting protein 2 homolog C (Drosophila). 0.022. ... regulator of chromosome condensation 2. 0.030. tmem2. transmembrane protein 2. 0.029. zgc:110682. zgc:110682. 0.029. ...
Im human and shes a kid. Weve got a lot of learning to do.. I dont have a nice, clean ending for this post because this ... And a new pair of rain boots. I wear my old rain boots almost every day around the house and Mom says theyre two sizes too ... Apparently that one calendar year makes eggs very sticky and extra chromosomes can get attached where they didnt just a few ... Sunday, December 16, 2007. To get the amnio or not to get the amnio. That is the question. ...
The theology of the Orthodox Christian faith is very clear and unambiguous: all unborn human life is sacred and innocent human ... Nature itself, in the form of X & Y chromosome derangement genetic disorders, has made the strongest argument that there is ... The very idea that there is little difference between an "XX" and an "XY" chromosomal pair as evidenced by certain polyploidal ... Benedict XVI), will derive from unhindered preaching of the Gospel. ...
These include human C4b multimerization domains as well as a number of homologues of human C4b multimerization domain available ... an artificial chromosome vector, such as a yeast artificial chromosome vector. ... Relevant to the latter possibility is the observation that when the gl heavy chains (glHCs) of 3BNC60 and gl12A21 are paired ... VRC01-class bNAbs protect non-human primates from experimental simian/human HIV (SHIV)-infection and humanized mice from HIV-1 ...
The genome consists of a circular chromosome (3,996,255 bp) and a circular plasmid (382,976 bp). It encodes 3,861 putative ... Phenylobacterium zucineum is a recently identified facultative intracellular species isolated from the human leukemia cell line ... Sixteen pairs of histidine kinase and response regulator (1 in the plasmid) are adjacently aligned and may act as functional ... The preliminary data suggest that P. zucineum may invade humans.. Table 14 Human ESTs matching the genome sequences of P. ...
The organism has 4,214,810 base pairs which codes for 4100 protein coding genes. (6) It has a single, circular chromosome.(7)(8 ... it can be found in the gastrointestinal tract of humans but this is very rare. Many studies have been conducted by the FDA and ... This is so the chromosome can be protected within and then, and the bacteria genetic material is not harmed. (11) Another ... B. subtilis is apart of the kingdom Bacteria, which means this organism has a single circular chromosome within the nucleoid ...
Live-cell chromosome dynamics and outcome of X chromosome pairing events during ES cell differentiation. Cell 145, 447-458 ( ... Ma, H., Reyes-Gutierrez, P. & Pederson, T. Visualization of repetitive DNA sequences in human chromosomes with transcription ... Bystricky, K., Laroche, T., van Houwe, G., Blaszczyk, M. & Gasser, S. M. Chromosome looping in yeast: telomere pairing and ... a steered molecular dynamics study of human chromosome 19. PLoS Comput. Biol. 9, e1003019 (2013). ...
Chromosome territory arrangement and homologous pairing in nuclei of Arabidopsis thaliana are predominantly random except for ... Lombrana R, Almeida R, Alvarez A, Gomez M. R-loops and initiation of DNA replication in human cells: a missing link? Front ... Chromosome Res. 2006;14:71-82. Lister R, OMalley RC, Tonti-Filippini J, Gregory BD, Berry CC, Millar AH, Ecker JR. Highly ... Chromosome 4 of A. thaliana (Col-0 ecotype) contains a heterochromatic knob in its short arm, although other accessions, such ...
... human enterovirus, human poliovirus, hepatitis A virus, human parechovirus, human rhinovirus), astroviruses (e.g., human ... Two pairs of nested PCR primers were used toamplify the gene encoding the Osp-A protein of B. burgdorfer under standard ... In addition, the methods can be used to identify natural or deliberate engineering events including chromosome fragment ... In the case of human blood, human DNA and RNA will be present in white blood cells, in addition to the nucleic acid present in ...
Chromosome. External id. - DATA AVAILABILITY -. Has protein data. - DATA RELIABILITY -. Reliability score tissue (IHC). ... The adrenal glands are paired endocrine glands attached on top of each kidney. Each gland consists of an outer cortex and an ... Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics. ... Tissue-based map of the human proteome. Science. PubMed: 25613900 DOI: 10.1126/science.1260419 Yu NY et al, 2015. Complementing ...
"Human retina": a human retinal tissue as a positive control. b RT-PCR analysis for the EYS gene. The regions for exon 4-11, ... We designed primer pairs nearly upstream to c.4957dupA (exon 24-25, 3640F-3818R) and compared the expression levels of EYS gene ... Defects in the EYS gene on chromosome 6q12 were found to be a major cause of autosomal recessive (ar) retinitis pigmentosa (RP ... Derivation of human differential photoreceptor cells from adult human dermal fibroblasts by defined combinations of CRX, RAX, ...
Human telomeric DNA consists of repeated sequences of TTAGG and extends over several thousand base pairs. Because guanine-rich ... antioxidantschromosomesDNAfree radicalsIsaGenix productsoxidative stressProduct BProduct B Antioxidants Telomere Support ... To those not familiar with what telomeres are, first think of your bodys DNA and chromosomes. At both ends of every strand of ... Scientific research suggests that a variety of consistent behaviors in humans in-vivo are available to alter the amount of ...
... see the link to All About the Human Genome Project (HGP) in the Other Internet Resources section below). What was conceived as ... In humans, the genome consists of 23 pairs of chromosomes, found in the nucleus, as well as a small chromosome found in the ... Not only is the human genome relatively large (roughly 3.2 billion base pairs (bps)) and of key interest to us as human beings ... In humans, a copy of the entire genome-more than 3 billion DNA base pairs-is contained in all cells that have a nucleus. (NIH ...
Our genome is approximately 3,000,000,000 base pairs long and is packaged into 23 pairs of chromosomes. ... In humans and other complex organisms, genes are split into coding (exons) and non-coding sequences (introns). These split ... An international biological research project, launched in 1990, with the goal of sequencing the human genome for the first time ... One of the four nucleotide bases that make up RNA (instead of thymine), pairs with adenine. ...
  • Comparison of rice ( Oryza sativa ), sorghum ( Sorghum bicolor ), maize ( Zea mays ), and Brachypodium distachyon genomes revealed that one paleo-duplicated chromosome pair has experienced very different evolution than all the others. (plantcell.org)
  • From the sequences of these RNAs and the sequences of the rat and human genomes we determined which of these small RNAs are likely to have derived from stem-loop precursors typical of microRNAs. (biomedcentral.com)
  • Haploid genomes contain two sets of chromosomes. (philosophyessays.net)
  • Using ENU, we gathered a collection of 13 temperature-sensitive mutants and 80 auxotrophic mutants including two deleterious alleles of the human ortholog ATIC. (g3journal.org)
  • Forward genetics in model organisms has boosted our knowledge of the genetic bases of development, aging, and human diseases. (g3journal.org)
  • Human genetic diseases are usually provoked by hypomorphic mutations (partial loss-of-function) that allow embryo development and birth but become deleterious at later stages. (g3journal.org)
  • The Štrukelj researcher that had contacted me earlier with no genetic match to my mother did match Dianne - albeit only by a tiny singular 5 cM strand of DNA on Chromosome 2. (blogspot.com)
  • Although human papillomavirus (HPV) infection has been shown to be a significant carcinogen in cervical squamous cell carcinoma (SCC), its significance in oral SCC remains unclear. (saladgaffe.gq)
  • Burkholderia cenocepacia belongs to a group of closely related organisms called the B. cepacia complex (Bcc) which are important opportunistic human pathogens. (biomedcentral.com)
  • By introducing the FCGRT transgene the albumin levels are restored to wild type, but the IgG levels remain low due to species-specific binding of IgG by human FCGRT. (jax.org)
  • Phenylobacterium zucineum is a recently identified facultative intracellular species isolated from the human leukemia cell line K562. (biomedcentral.com)
  • The HLK1 T strain, therefore, represents the only species so far in the genus Phenylobacterium that can infect and survive in human cells. (biomedcentral.com)
  • The Neanderthals were a Eurasian human species of the genus Homo that disappeared approximately 30,000 years ago. (blogspot.com)
  • Comprises of similar homogeny with humans species. (edu.au)
  • Many species of birds are economically important as food for human consumption and raw material in manufacturing, with domesticated and undomesticated birds (poultry and game) being important sources of eggs, meat, and feathers. (wikipedia.org)
  • About 120-130 species have become extinct due to human activity since the 17th century, and hundreds more before then. (wikipedia.org)
  • Human activity threatens about 1,200 bird species with extinction, though efforts are underway to protect them. (wikipedia.org)
  • It is not threatened with extinction, but human activities, such as hunting, habitat destruction, and the introduction of foreign predatory species and parasites, have reduced its distribution in Australia. (wikipedia.org)
  • Chronic myeloid leukemia is a malignant clonal hematopoietic stem cell disorder characterized by the expression of the Philadelphia chromosome, generated by a reciprocal translocation between the long arms of chromosomes 9 and 22 ( 10 ). (aacrjournals.org)
  • We conducted a 5-year retrospective case note review of all children aged 3 months to 16 years admitted with a diagnosis of acute haematogenous osteomyelitis. (saladgaffe.tk)
  • Down-regulation of DKK1 and Wnt1/β-catenin pathway by increased homeobox B7 resulted in cell differentiation suppression of intrauterine fetal growth retardation in human placenta. (tripdatabase.com)
  • Our findings further suggest a novel mechanism for chromosome 6-mediated suppression of tumorigenesis and metastasis, i.e., through increased cell death. (ijbs.com)
  • While it is generally assumed that the suppression is due to reduced cell proliferation, apoptotic features of CMM cell lines and the chromosome 6-mediated suppressed cell sublines have not yet been defined. (ijbs.com)
  • Parkinson's disease (reviewed in 7 ) and schizophrenia (reviewed in 8 ) are more common in human males than in females, while the female human brain appears more susceptible to Alzheimer's disease (reviewed in 9 ), and mood disorders such as depression (reviewed in 10 ). (jove.com)
  • Nuclear translocation of glutaminase GLS2 in human cancer cells associates with proliferation arrest and differentiation. (ist.ac.at)
  • A new approach to rapid sequence comparison, basic local alignment search tool (BLAST), directly approximates alignments that optimize a measure of local similarity, the maximal segment pair (MSP) score. (scienceopen.com)
  • Here we show that Sph-1-P does not significantly affect PDGF-induced DNA synthesis, proliferation, or activation of mitogenic signal transduction pathways, such as the mitogen-activated protein (MAP) kinase cascade and PI 3-kinase, in human arterial SMC. (saladgaffe.tk)
  • Studies with gonectomized male and female rodents reveals that testosterone and the testosterone metabolite, dihydrotestosterone (DHT) exacerbate and estrogen decreases neuronal injury following cerebral ischemia 12-14,16-18 . (jove.com)
  • Long-range temporal correlations in the broadband resting state activity of the human brain revealed by neuronal avalanches. (ist.ac.at)
  • Pulse crops are considered minor on a global scale despite their nutritional value for human consumption. (hindawi.com)
  • We Are submitted to prevent the form as new to using aquatic as vol.. food research protection plumpox argues program coat a plasmolysis the member will yield modified for years in the virus majority, true quotes, social crops, borer-infested and human authors. (inhaltspflege.de)
  • The transgenic founder line 32 provides a model to study serum half-life of human IgG (hIgG), with a good correlation to cynomolgus monkey and human. (jax.org)
  • An antibacterial chemical in hand soap and other common hygiene products seems to weaken skeletal muscles in both humans and animals, according to a UC Davis study. (universityofcalifornia.edu)
  • CGH revealed partially recurrent alterations in four cases (with and without atypical morphology), including gains on chromosome 1q (one case), 17q (two cases), chromosome 19 (three cases) and 22q (one case) and losses on chromosome 17p (two cases) and 22q (one case). (faintpower.ga)
  • Since I can only confirm the originating grandparent of 51% my X-DNA, I tend to believe (but cannot confirm at the present) that my X-chromosome may be an exact copy of my mother's inherited X from her mother. (dna-explained.com)
  • In addition, Bcr-Abl modulates DNA repair ( 9 , 13 - 15 ) and extends G 2 -M arrest on DNA damage ( 8 , 16 ) mediated by an enhanced stimulation of ATR-CHK1 ( 8 , 17 ). (aacrjournals.org)
  • Extended tissue samples include mouse brain, human lactating breast, eye and additional samples of adrenal gland, skin and brain. (proteinatlas.org)
  • Humans have two lungs, a left and a right lung both located in the chest covered by many tissue, muscles and bones to protect them. (edu.au)
  • The MALAT-1 transcript is widely expressed in normal human and mouse tissue, has been shown to localize to the nucleus and its 3′ end can be processed to yield a tRNA-like cytoplasmic RNA. (biomedcentral.com)
  • These scid FcRn-/- hFcRn (32) Tg mice express a human alpha chain FCGRT molecule in lieu of the endogenous mouse Fcgrt . (jax.org)
  • Blood clots can happen in blood vessels and can on occasion travel to various sections of the human body including the lungs. (equipoffshore.sg)
  • If you don't understand how the X chromosome recombines and is passed from generation to generation, now would be a good time to read my article, " X Marks the Spot " about how this works. (dna-explained.com)
  • The first hint of this "problem" is apparent in Jim Owston's " Phasing the X Chromosome " article. (dna-explained.com)
  • Please note Blaine Bettinger's X maternal inheritance chart percentages from his " More X-Chromosome Chart s" article, and used with his kind permission in the X Marks the Spot article. (dna-explained.com)
  • catenin in intrauterine fetal growth retardation (FGR).Quantitative measurement of HoxB7, DKK1, Wnt1, and β-catenin was performed in human placentas collected from normal pregnancies and from FGR with quantitative real time PCR (qRT-PCR). (tripdatabase.com)
  • The luminol-enhanced chemiluminescence of zymosan-stimulated polymorphonuclear leukocytes is continuously diminished in the presence of increasing amounts of human serum albumin (from 1 to 30 mg/ml). (faintpower.cf)
  • Pulse crop seeds, which are important for human nutrition, typically have 20-25% protein and 40-50% starch, are rich in dietary fibre, and usually have only small amounts of oil. (hindawi.com)
  • The lumen was thought to be compatible to subretinal space of the human retina, which plays an important function in vision. (biomedcentral.com)
  • Intragenomic similarity near this chromosomal terminus may be important in hom(e)ologous chromosome pairing. (plantcell.org)