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)
Any method used for determining the location of and relative distances between genes on a chromosome.
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.
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.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
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)
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
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.
Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.
The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
Actual loss of portion of a chromosome.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.
Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.
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.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
The alignment of CHROMOSOMES at homologous sequences.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
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)
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.
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
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.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Mapping of the KARYOTYPE of a cell.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.
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.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
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.
The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
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.
Aberrant chromosomes with no ends, i.e., circular.
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.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.
The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.
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.
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.
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.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Structures within the CELL NUCLEUS of insect cells containing DNA.
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
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.
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.
Structures which are contained in or part of CHROMOSOMES.
The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.
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).
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.
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.
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.
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
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.
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.
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.
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).
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
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.
The possession of a third chromosome of any one type in an otherwise diploid cell.
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.
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.
Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.
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)
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.
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).
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.
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.
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.
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
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.
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.
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.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
Genetic loci associated with a QUANTITATIVE TRAIT.
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.
An aberration in which an extra chromosome or a chromosomal segment is made.
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.
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.
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.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
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.
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).
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
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)
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.
An individual having different alleles at one or more loci regarding a specific character.
Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.
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)
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
The process by which a DNA molecule is duplicated.
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.
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.
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).
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.
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.
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.
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.
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.
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.
Genotypic differences observed among individuals in a population.
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.
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)
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.
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.
Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.
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.)
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
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.
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).
The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
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.
Male germ cells derived from SPERMATOGONIA. The euploid primary spermatocytes undergo MEIOSIS and give rise to the haploid secondary spermatocytes which in turn give rise to SPERMATIDS.
Genes that are located on the X CHROMOSOME.
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.
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.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
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.
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.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
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.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE).
Genes that influence the PHENOTYPE only in the homozygous state.
PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.
Established cell cultures that have the potential to propagate indefinitely.
Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.
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.
The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.
Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.
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)
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
The degree of replication of the chromosome set in the karyotype.
An individual in which both alleles at a given locus are identical.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.
The relationships of groups of organisms as reflected by their genetic makeup.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
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.
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.
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.
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)
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)
Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
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.
A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.
Genes 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.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
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)
The functional hereditary units of BACTERIA.
The genetic complement of a plant (PLANTS) as represented in its DNA.
DNA present in neoplastic tissue.
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.
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.
A characteristic symptom complex.
The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.
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.
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.
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.
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.
Deoxyribonucleic acid that makes up the genetic material of fungi.
Genes that are located on the Y CHROMOSOME.
Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.
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 that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.
Deoxyribonucleic acid that makes up the genetic material of plants.
A family of highly conserved serine-threonine kinases that are involved in the regulation of MITOSIS. They are involved in many aspects of cell division, including centrosome duplication, SPINDLE APPARATUS formation, chromosome alignment, attachment to the spindle, checkpoint activation, and CYTOKINESIS.
The mechanisms by which the SEX of an individual's GONADS are fixed.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
The functional hereditary units of INSECTS.
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.
The prophase of the first division of MEIOSIS (in which homologous CHROMOSOME SEGREGATION occurs). It is divided into five stages: leptonema, zygonema, PACHYNEMA, diplonema, and diakinesis.
A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)
A method for ordering genetic loci along CHROMOSOMES. The method involves fusing irradiated donor cells with host cells from another species. Following cell fusion, fragments of DNA from the irradiated cells become integrated into the chromosomes of the host cells. Molecular probing of DNA obtained from the fused cells is used to determine if two or more genetic loci are located within the same fragment of donor cell DNA.
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.
The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
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.
Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.

Renal function studies in an infant with 4p (-) syndrome. (1/114)

An infant with the syndrome of deletion of the short arm of chromosome 4 is described. In addition, this child had renal insufficiency, which is found rarely in association with the 4p(--) syndrome. Previous reports of this syndrome have described only isolated gross structural abnormalites of the urinary tract. In the case discussed here, we present clinical and functional data which indicate that this patient had bilateral renal dysplasia.  (+info)

Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes. (2/114)

The techniques of somatic cell genetics have been used to establish the linkage relationships of loci coding for two forms (A and B) of hexosaminidase (EC 3.2.1.30; 2-acetamido-2-deoxy-beta-D-glucoside acetamidodeoxyglucohydrolase) and to determine whether a structural relationship exists between these forms. In a series of human-mouse hybrid cell lines, hexosaminidase A and B segregated independently. Our results and those reported by other investigators are used to analyze the proposed structural models for hexosaminidase. We have also been able to establish a syntenic relationship between the gene locus responsible for the expression of hexosaminidase A and those responsible for mannosephosphate isomerase and pyruvate kinase-3 and to assign the gene for hexosaminidase B to chromosome 5 in man. There is thus a linkage between specific human autosomes and enzymes implicated in the production of lipid storage diseases.  (+info)

Genetic analysis of the cell surface: association of human chromosome 5 with sensitivity to diphtheria toxin in mouse-human somatic cell hybrids. (3/114)

Diphtheria toxin inhibits protein synthesis in eukaryotic cells by catalyzing inactivation of elongation factor 2. The 10,000-fold greater sensitivity in vitro to diphtheria toxin of human cells as compared to mouse cells seems to be attributable to a difference at the level of the cell membrane. Mouse-human cell hybrids are as sensitive to diphtheria toxin as human cells. We have shown that the sensitivity of the hybrid cells is due to a gene or genes located on human chromosome 5. Mouse-human hybrid cells in which chromosome 5 is present are as sensitive to the toxin as human cells, which hybrids without chromosome 5 are as resistant as mouse cells. Entry of toxin into cells seems to be a two-step process involvin, (1) binding of toxin to the cell surface and (2) endocytotic uptake of toxin. The difference in sensitivity between human and mouse cells and between hybrid cells with and without chromosome 5 does not appear to be due to a difference in endocytotic activity and may be due to presence or absence of toxin-specific receptor.  (+info)

Fanconi's aplastic anaemia with short stature. Absence of response to human growth hormone. (4/114)

A patient with idiopathic marrow hypoplasia associated with short stature and other anomalies (Fanconi's anaemia) is described: treatment with human growth hormone for one year did not accelerate his growth rate or significantly affect his anaemia: androgen treatment considerably improved both features. Endocrine studies suggest that though he had poor and insufficient production of endogenous growth hormone to insulin-induced hypoglycaemia, the major defect in this syndrome is determined more at the end-organ than at the pituitary or gonadal level.  (+info)

A new hematologic syndrome with a distinct karyotype: the 5 q--chromosome. (5/114)

Five patients, four women and one man, age 32-8- yr, all whites, had refractory anemia with the same abnormal bone marrow karyotype, i.e., a partial deletion of the long arm of the No. 5 chromosome. The hematologic syndrome was practically the same in these five cases. Examination of the blood revealed a moderate to severe, generally macrocytic anemia with slight leukopenia but normal or elevated platelet count. The bone marrow showed a depressed erythroid series and some abnormalities of the granulocytic series with an occasional excess of myeloblasts. Most of the megakaryocytes had a nonlobulated nucleus. These features, as well as cytogenetic, electron microscopic, isotopic, platelet function, and immunologic studies, are described in detail. The relationship of this newly established syndrome to other hematologic diseases is discussed. The syndrome constitutes another example of the association between a specific abnormal chromosome and a distinct hematologic disorder.  (+info)

Partial trisomy for the long arms of chromosome no. 5 due to insertion and further 'aneusomie de recombinaison'. (6/114)

Five members of a family with a balanced insertion (1;5)(q32;q11q22) are presented. The daughter of one of them shows multiple malformations and a partial trisomy for the long arms of chromosome No. 5 (5q11 to 5q22 segment) resulting from a 'aneusomie de recombinaison' in her mother. The propositus' karyotype is 46,XX,rec(1;5)ins (1;5)(q32;q11q22). This case is the first reported example of an insertion between two chromosomes followed by 'aneusomie de recombinaison'. It also is the first reported case of trisomy invovling the long arms of chromosome No. 5.  (+info)

Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring. (7/114)

Five cases of chromosome imbalance resulting from 3:1 disjunction of reciprocal translocations are described. A review of the literature suggests this phenomenon is more common than has previously been recognized.  (+info)

Chromosomal banding patterns in acute nonlymphocytic leukemia. (8/114)

Bone marrow chromosomes obtained from 50 of 55 consecutive adult patients with acute nonlymphocytic leukemia were analyzed with quinacrine fluorescence. Twenty-five patients showed a normal karyotype and 25 an abnormal karyotype on the initial samples available for analysis. Among the 25 patients with abnormalities, the marrow cells contained 48 chromosomes in one case, 47 in two, 46 in ten, 45 in nine, 43 in two, and 42 chromosomes in one case. Seven of the ten patients with 46 chromosomes had abnormalities, primarily balanced translocations, that were not detected with the standard Giemsa stains. The analysis of all of the data available revealed the presence of nonrandom chromosome changes such as the addition of No. 8, the loss of No. 7, and a gain or loss of one No. 21. the most frequent structural rearrangement was the translocation between the long arm of No. 8 and No. 21, which may also be associated with the loss of a sex chromosome. Chromosomal abnormalities decreased or disappeared during remission; the same abnormality recurred in relapse. Chemotherapy did not appear to produce a stable clone of aberrant cells. Evolution of the karyotype occurred in eight patients, in five of whom an additional No. 8 was observed. This pattern of chromosomal evolution in patients with acute leukemia was very similar to that observed in patients with chronic myelogenous leukemia in the blast phase.  (+info)

1HFR: Comparison of ternary crystal complexes of F31 variants of human dihydrofolate reductase with NADPH and a classical antitumor furopyrimidine.
1HFP: Comparison of ternary crystal complexes of F31 variants of human dihydrofolate reductase with NADPH and a classical antitumor furopyrimidine.
Description of disease Acute nonlymphocytic leukemia. Treatment Acute nonlymphocytic leukemia. Symptoms and causes Acute nonlymphocytic leukemia Prophylaxis Acute nonlymphocytic leukemia
TY - JOUR. T1 - Translocation t(12;19)(q13;q13.3). A new recurrent abnormality in acute nonlymphocytic leukemia with atypical erythropoiesis. AU - Paietta, Elisabeth M.. AU - Papenhausen, Peter. AU - Gucalp, Rasim A.. AU - Wiernik, Peter H.. PY - 1988. Y1 - 1988. N2 - A new reciprocal, apparently balanced translocation between chromosomes 12 and 19, t(12;19)(q13;q13.3), was detected in 5% ( 3 59) of patients with FAB M1 or M2 acute nonlymphocytic leukemia. In either case, this translocation was part of complex but different cytogenetic abnormalities. None of the patients had a significant response to therapy. In one instance, however, the translocation was found at first relapse after 2 years of complete remission, and no information regarding the karyotype at disease onset was available. Hematologically common to these patients were marked marrow erythroid hyperplasia and severely abnormal erythropoiesis despite normal serum B12 and folate levels. A direct association between t(12;19) and these ...
Fingerprint Dive into the research topics of Treatment of acute nonlymphocytic leukemia in the elderly with intermediate high‐dose cytosine arabinoside. Together they form a unique fingerprint. ...
Enzymes involved in thymidylate biosynthesis, thymidylate synthase (TS), and dihydrofolate reductase (DHFR) are well-known targets in cancer chemotherapy. In this study, we demonstrated for the first time, that human TS and DHFR form a strong complex in vitro and co-localize in human normal and colo …
The chaperonin GroEL binds non-native polypeptides in an open ring via hydrophobic contacts and then, after ATP and GroES binding to the same ring as polypeptide, mediates productive folding in the now hydrophilic, encapsulated cis chamber. The nature of the folding reaction in the cis cavity remains poorly understood. In particular, it is unclear whether polypeptides take the same route to the native state in this cavity as they do when folding spontaneously free in solution. Here, we have addressed this question by using NMR measurements of the time course of acquisition of amide proton exchange protection of human dihydrofolate reductase (DHFR) during folding in the presence of methotrexate and ATP either free in solution or inside the stable cavity formed between a single ring variant of GroEL, SR1, and GroES. Recovery of DHFR refolded by the SR1/GroES-mediated reaction is 2-fold higher than in the spontaneous reaction. Nevertheless, DHFR folding was found to proceed by the same trajectories ...
In the development of antimalarial agents there have been important and unresolved questions regarding the targets and mechanisms of action of two compounds presumed to affect the folate pathway. For both of these compounds, WR99210 and proguanil, various lines of evidence have suggested the chemotherapeutic action was directed against one or more targets independent of the DHFR enzyme. Using the DHFR inhibitor MTX, we have selected transformed lines of P. falciparum in which the parasite DHFR activity is supplemented by a MTX-resistant human DHFR. Transformed parasites showed a 4,000-fold increase in resistance to both MTX and WR99210. This result demonstrates that the action of WR99210 must be against parasite DHFR and is consistent with previous data indicating the excellent therapeutic window of this drug (37). Significant inhibition of a second target in P. falciparum by WR99210 is not supported by these results.. WR99210 shows no cross-resistance with pyrimethamine or cycloguanil (refs. 10 ...
The Rock Krawler Wrangler X Factor Long Arm Suspension System design dominates the professional world of rock crawling while still maintaining perfect drivabili
The Rock Krawler Wrangler X Factor Long Arm Suspension System design dominates the professional world of rock crawling while still maintaining perfect drivabili
When people hear the word infection, the majority think only about bacteria. Unfortunately, there are many different types of infectious organisms, including protozoal, parasites, and fungi. This week Im sharing some information about a relatively common fungal infection called histoplasmosis. This organism can wreak havoc if not identified and treated promptly so I hope this … [Read more…] ...
Nausea and vomiting continue to be distressing side effects of cancer chemotherapy. We recently reported (1) a randomized, double-blind study in which a single 10-mg dose of intravenous dexamethasone markedly reduced the gastrointestinal side effects of mildly emetogenic chemotherapy for outpatients with breast cancer. We now report the safety and efficacy of repeated doses of dexamethasone in eliminating the nausea and vomiting of induction chemotherapy for patients with acute nonlymphocytic leukemia.. All patients included in the study were adults with acute nonlymphocytic leukemia (at diagnosis or on relapse) at the Hospital of the University of Pennsylvania and were treated with ...
Rett syndrome (RS) was diagnosed in a girl with a t(X;22) (p11.22;p11). This translocation was also present in her unaffected mother and her sister affected by a neurological disorder compatible with a forme fruste of RS. Different etiological mechanisms are considered: gene disruption, X inactivation disturbance, metabolic interference. Whatever this may be, the localization of a RS related gene to the short arm of chromosome X is likely.
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"Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution". Science. 308 (5725): 1149-54. doi:10.1126/science. ... Plexin-B3 is a protein that in humans is encoded by the PLXNB3 gene. PLXNB3 has been shown to interact with ARHGEF11. Model ... Brenner V, Nyakatura G, Rosenthal A, Platzer M (Aug 1997). "Genomic organization of two novel genes on human Xq28: compact head ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Mouse PubMed ...
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Dear, PH; Cook, PR (September 1989). "Happy mapping: a proposal for linkage mapping the human genome". Nucleic Acids Res. 17 ( ... It overcomes some limitations of Chromosome conformation capture (3C), as these methods have a reliance on digestion and ... based on a concept of a theoretical approach for linkage mapping human genome published in 1989, GAM implements the measure of ... "The statistical-mechanics of chromosome conformation capture". Nucleus. 4 (5): 390-8. doi:10.4161/nucl.26513. PMC 3899129. PMID ...
"Localization of Shaw-related K+ channel genes on mouse and human chromosomes". Mamm Genome. 4 (12): 711-5. doi:10.1007/ ... Potassium voltage-gated channel subfamily C member 2 is a protein that in humans is encoded by the KCNC2 gene. The protein ... Kv3.2+Potassium+Channel at the US National Library of Medicine Medical Subject Headings (MeSH) KCNC2+protein,+human at the US ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Mouse PubMed ...
The human PRNP gene is located on the short (p) arm of chromosome 20 between the end (terminus) of the arm and position 13, ... of a human gene homologous to the PrP gene on the p arm of chromosome 20 and detection of PrP-related antigens in normal human ... "Assignment of the human and mouse prion protein genes to homologous chromosomes". Proc. Natl. Acad. Sci. U.S.A. 83 (19): 7358- ... thought to be due to human ingestion of diseased individuals, and vCJD, thought to be due to human ingestion of BSE-tainted ...
... and mapping of Kv3.3 and Kv3.4 to human chromosomes 19 and 1". Genomics. 12 (2): 190-6. doi:10.1016/0888-7543(92)90365-Y. PMID ... "Localization of Shaw-related K+ channel genes on mouse and human chromosomes". Mamm. Genome. 4 (12): 711-5. doi:10.1007/ ... Potassium voltage-gated channel, Shaw-related subfamily, member 3 also known as KCNC3 or Kv3.3 is a protein that in humans is ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Mouse PubMed ...
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2005). "DNA sequence and analysis of human chromosome 18". Nature. 437 (7058): 551-5. doi:10.1038/nature03983. PMID 16177791. ... CDK5 and ABL1 enzyme substrate 1 is a protein that in humans is encoded by the CABLES1 gene. CABLES1 is a cyclin-dependent ... "Entrez Gene: CABLES1 Cdk5 and Abl enzyme substrate 1". Human CABLES1 genome location and CABLES1 gene details page in the UCSC ... 2004). "Loss of cables, a novel gene on chromosome 18q, in ovarian cancer". Mod. Pathol. 16 (9): 863-8. doi:10.1097/01.MP. ...
Chen H, Antonarakis SE (1998). "The SH3D1A gene maps to human chromosome 21q22.1-->q22.2". Cytogenetics and Cell Genetics. 78 ( ... and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1-->q22.2". Cytogenetics ... Intersectin-1 is a protein that, in humans, is encoded by the ITSN1 gene. The protein encoded by this gene is a cytoplasmic ... Pucharcos C, Casas C, Nadal M, Estivill X, de la Luna S (Oct 2001). "The human intersectin genes and their spliced variants are ...
... is a protein that in humans is encoded by the TSBP1 gene. C6orf10 is an open reading frame on chromosome 6 containing a ... "Entrez Gene: C6orf10 chromosome 6 open reading frame 10". "AceView: Gene:C6orf10, a comprehensive annotation of human, mouse ... C6orf10 contains seven human mRNA splice variants (a, b, c, X1, X2, X3, X4). TSBP1 contains a highly conserved stem loop ... Human C6orf10 genome location and C6orf10 gene details page in the UCSC Genome Browser. Ficarro S, Chertihin O, Westbrook VA, ...
A chromosome analysis performed the following month by Engel revealed that Speck had a normal XY karyotype. One month later, a ... Jacobs, Patricia A. (September 1982). "The William Allan Memorial Award address: human population cytogenetics: the first ... Jacobs, Patricia A.; Price, W. H.; Court Brown, W. M.; Brittain, R. P.; Whatmore, P. B. (May 1968). "Chromosome studies on men ... In May 1968, Speck's chromosomes were karyotyped a second time by Engel, with the same result: a normal 46,XY genome. After ...
2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369-74. doi:10.1038/nature02465. PMC 2734081. ... Aprataxin is a protein that in humans is encoded by the APTX gene. This gene encodes a member of the histidine triad (HIT) ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40-5. doi:10.1038/ ...
In 1995, Hirschhorn was the recipient of the William Allan Award in human medical genetics. He is a fellow of the Hastings ... Cooper H, Hirschhorn K (1961). "Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline ... Along with his wife, Rochelle, he has a son, Joel Hirschhorn, who is also a human geneticist. Wolf-Hirschhorn syndrome (WHS), ... Childs, Barton (2003-01-23). "Introductory Speech for Kurt Hirschhorn". American Society of Human Genetics. 72 (2): 241. doi: ...
... at chromosome 1p36.2-p36.1". Human Molecular Genetics. 1 (1): 65. doi:10.1093/hmg/1.1.65-a. PMID 1339476. Link DC, Gutkind SJ, ... "Isolation of duplicated human c-src genes located on chromosomes 1 and 20". Molecular and Cellular Biology. 5 (4): 831-8. doi: ... Katamine S, Notario V, Rao CD, Miki T, Cheah MS, Tronick SR, Robbins KC (Jan 1988). "Primary structure of the human fgr proto- ... Nishizawa M, Semba K, Yamamoto T, Toyoshima K (Mar 1985). "Human c-f gr gene does not contain coding sequence for actin-like ...
Madani N, Kabat D (1998). "An Endogenous Inhibitor of Human Immunodeficiency Virus in Human Lymphocytes Is Overcome by the ... Six pseudogenes have been identified on chromosomes 4, 5, 8, 10 and 13. PSME2 has been shown to interact with PSME1. ... Sheehy AM, Gaddis NC, Choi JD, Malim MH (2002). "Isolation of a human gene that inhibits HIV-1 infection and is suppressed by ... Proteasome activator complex subunit 2 is a protein that in humans is encoded by the PSME2 gene. The 26S proteasome is a ...
Horikawa I, Barrett JC (2003). "cDNA cloning of the human polybromo-1 gene on chromosome 3p21". DNA Seq. 13 (4): 211-5. doi: ... "The human SWI/SNF-B chromatin-remodeling complex is related to yeast Rsc and localizes at kinetochores of mitotic chromosomes ... Protein polybromo-1 (PB1) also known as BRG1-associated factor 180 (BAF180) is a protein that in humans is encoded by the PBRM1 ... Shain, AH; Pollack, JR (2013). "The spectrum of SWI/SNF mutations, ubiquitous in human cancers". PLOS ONE. 8 (1): e55119. doi: ...
"Cloning and chromosome mapping of human and chicken Iroquois (IRX) genes". Cytogenet. Cell Genet. 92 (3-4): 320-5. doi:10.1159/ ... IRX5 human gene location in the UCSC Genome Browser. IRX5 human gene details in the UCSC Genome Browser. This article ... 2007). "A novel human AP endonuclease with conserved zinc-finger-like motifs involved in DNA strand break responses". EMBO J. ... 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. Bibcode:2006Natur.441.. ... of a novel human opsin gene with wide tissue expression and identification of embedded and flanking genes on chromosome 1q43". ... Alberati-Giani D, Cesura AM, Broger C, Warren WD, Rover S, Malherbe P (Sep 1997). "Cloning and functional expression of human ... Kynurenine 3-monooxygenase is an enzyme that in humans is encoded by the KMO gene. Kynurenine 3-monooxygenase (KMO; EC 1.14. ...
... , IRX2, and IRX4 are found on human chromosome 5, and their orientation corresponds to that of IRX3, IRX5, and IRX6 found ... "Cloning and chromosome mapping of human and chicken Iroquois (IRX) genes". Cytogenet. Cell Genet. 92 (3-4): 320-5. doi:10.1159/ ... The human gene product is a 1858 base pair mRNA with 4 predicted exons in humans. Promoter analysis was performed using El ... on human chromosome 16. It is thought that the genomic organization of IRO genes in conserved gene clusters allows for ...
In humans the protein is encoded by the NPC1 gene (chromosome location 18q11). NPC1 was identified as the gene that when ... July 1997). "Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C". ... March 1993). "Linkage of Niemann-Pick disease type C to human chromosome 18". Proceedings of the National Academy of Sciences ... American Journal of Human Genetics. 68 (6): 1361-72. doi:10.1086/320599. PMC 1226123. PMID 11349231. NPC1+protein,+human at the ...
Lucotte G, Smets P; Smets (December 1999). "Origins of Falasha Jews studied by haplotypes of the Y chromosome". Human Biology. ... The controversial response by the Punjab State reportedly involved the use of human rights violations in the form of ... United Nations Human Development Report 2005. Griffiths, Ryan (March 26, 2008). "Globalization, Development and Separatism: The ... 2-4. ISBN 9780847685851. Archived from the original on 2015-03-19. Retrieved 2015-08-15. Link to: Archived 2008-06-11 at the ...
2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-71. doi:10.1038/414865a. ... Inosine triphosphate pyrophosphatase is an enzyme that in humans is encoded by the ITPA gene, by the rdgB gene in bacteria E. ... 1992). "Interaction of human immunodeficiency virus type I Rev protein with nuclear scaffold nucleoside triphosphatase activity ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
"Cloning and chromosome mapping of human and chicken Iroquois (IRX) genes". Cytogenet. Cell Genet. 92 (3-4): 320-5. doi:10.1159/ ... Iroquois-class homeodomain protein IRX-6, also known as Iroquois homeobox protein 6, is a protein that in humans is encoded by ... 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 1999). "Regulated expression patterns of IRX-2, an Iroquois-class homeobox gene, in the human breast". Cell Tissue Res. 296 (3 ...
"Chromosome mapping of the human ras-related rab3A gene to 19p13.2". Genomics. 5 (4): 694-8. doi:10.1016/0888-7543(89)90110-9. ... "Fluorescence in situ hybridization mapping of human chromosome 19: cytogenetic band location of 540 cosmids and 70 genes or DNA ... Ras-related protein Rab-3A is a protein that in humans is encoded by the RAB3A gene. It is involved in calcium-triggered ... Zahraoui A, Touchot N, Chardin P, Tavitian A (1989). "The human Rab genes encode a family of GTP-binding proteins related to ...
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2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375-81. doi:10.1038/nature02462 ... Kazal-type serine protease inhibitor domain-containing protein 1 is an enzyme that in humans is encoded by the KAZALD1 gene. ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40-5. doi:10.1038/ ...
1995). "The genes encoding alpha 2(IX) collagen (COL9A2) map to human chromosome 1p32.3-p33 and mouse chromosome 4". Genomics. ... 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. Bibcode:2006Natur.441.. ... collagen cDNA and assignment of the human COL9A2 gene to chromosome 1". FEBS Lett. 319 (1-2): 177-80. doi:10.1016/0014-5793(93) ... 1998). "Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule". ...
"Fine-structure genetic mapping of human chromosomes using the polymerase chain reaction on single sperm." Am J Hum Genet vol. ... Human Genetics, Oct. 9-13, 1985. Mullis KB et al. "Specific enzymatic amplification of DNA in vitro: the polymerase chain ... "Amplification of human minisatellites." Nucleic Acids Research vol. 23 pp. 10953-71 (1988). Higuchi R et al. "DNA typing from ... Primers and probes were designed for a variable segment of the Human leukocyte antigen DQα gene. This reaction was much more ...
Humans have 23 pairs of chromosomes and other great apes have 24 pairs of chromosomes. In the human evolutionary lineage, two ... Human and chimpanzee chromosomes are very similar. The primary difference is that humans have one fewer pair of chromosomes ... Human evolutionary genetics Human chromosome 2 Human Genome Project Suntsova, M.V.; Buzdin, A.A. (2020-09-10). "Differences ... producing human chromosome 2. There are nine other major chromosomal differences between chimpanzees and humans: chromosome ...
Human chromosome 2 resulted from a fusion of two ancestral chromosomes that remained separate in the chimpanzee lineage. " The ... Mitochondrial DNA and human history. The Human Genome. 2003-10-09 [2006-09-19]. (原始内容存档于2015-09-07) (英语).. ... 大多數人類基因擁有許多的外顯子,且人類的內含子比位在其兩端的外顯子更長。這些基因參差不齊地分佈在染色體中,每一個染色體
This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.. *v ... "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... Homeobox protein Hox-D8 is a protein that in humans is encoded by the HOXD8 gene.[5][6][7] ... Goodman FR (2003). "Limb malformations and the human HOX genes". Am. J. Med. Genet. 112 (3): 256-65. doi:10.1002/ajmg.10776. ...
Lamin A/C gene and a related sequence map to human chromosomes 1q12.1-q23 and 10. Somat. Cell Mol. Genet. March 1993, 19 (2): ... Human laminopathies: nuclei gone genetically awry. Nat. Rev. Genet. December 2006, 7 (12): 940-52. PMID 17139325. doi:10.1038/ ... Life at the edge: the nuclear envelope and human disease. Nat. Rev. Mol. Cell Biol. 2002, 3 (8): 575-85. PMID 12154369. doi: ... The strange case of the "lumper" lamin A/C gene and human premature ageing. Trends in molecular medicine. 2004, 9 (9): 370-5. ...
A QTL for osteoporosis on the human chromosome 20. QTL mapping[edit]. ... "Human Genetics for 1st Year Students: Multifactorial Inheritance". Retrieved 6 January 2007.. ... An example of a polygenic trait is human skin color variation. Several genes factor into determining a person's natural skin ... However, due to some advantages, now plant geneticists are attempting to incorporate some of the methods pioneered in human ...
In search of the genetic footprints of Sumerians: a survey of Y-chromosome and mtDNA variation in the Marsh Arabs of Iraq - - ... Human rights *in pre-Saddam Iraq. *in Saddam Hussein's Iraq. *in post-invasion Iraq *in ISIL-controlled territory ... 4] By the early 1990s, however, up to 60% of the total amount of fish caught in Iraq's inland waters came from the marshes.[5] ...
... and regional assignment of the human follicle-stimulating hormone beta-subunit gene to the short arm of human chromosome 11". ... 1989). "Expression of biologically active human follitropin in Chinese hamster ovary cells". J. Biol. Chem. 264 (9): 4769-75. ... 1999). "Characterization of single-nucleotide polymorphisms in coding regions of human genes". Nat. Genet. 22 (3): 231-8. PMID ... Fox KM، Dias JA، Van Roey P (2001). "Three-dimensional structure of human follicle-stimulating hormone". Mol. Endocrinol. 15 (3 ...
For a bacterium to bind, take up, and recombine exogenous DNA into its chromosome, it must enter a special physiological state ... As a significant human pathogenic bacterium S. pneumoniae was recognized as a major cause of pneumonia in the late 19th century ... pneumoniae can be found in the human upper respiratory system. A study of competition in vitro revealed S. pneumoniae ... 5 (3): 191-229. PMC 378870. PMID 16558872.. *^ Wainer H (2014). Medical Illuminations: Using Evidence, Visualization and ...
MN1 is a gene found on human chromosome 22, with gene map locus 22q12.3-qter.[5] Its official full name is meningioma ( ... 2008). "Toward a confocal subcellular atlas of the human proteome". Mol. Cell. Proteomics. 7 (3): 499-508. doi:10.1074/mcp. ... a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma". Oncogene. 10 (8): 1521-8. PMID ... 22 (5): 699-709. doi:10.1038/sj.onc.1206124. PMID 12569362.. *^ Sutton AL, Zhang X, Ellison TI, Macdonald PN (September 2005 ...
O'Donovan (1999). „Physical mapping of the CXC chemokine locus on human chromosome 4.". Cytogenet. Cell Genet. 84: 39-42. PMID ... Angiolillo (1995). „Human interferon-inducible protein 10 is a potent inhibitor of angiogenesis in vivo". J. Exp. Med. 182: 155 ... 4] CXCL10 gen je lociran na ljudskom hromozomu 4 u klasteru sa nekoliko drugih CXC hemokina.[5] Ovaj hemokin dejstvuje putem ...
... to human chromosome 4 defines an alpha 2-alpha 4-beta 1-gamma 1 gene cluster: further evidence that modern GABAA receptor gene ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. .mw-parser-output ... 2000). "Human genome search in celiac disease using gliadin cDNA as probe". J. Mol. Biol. 300 (5): 1155-1167. doi:10.1006/jmbi. ... 2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40-45. doi:10.1038/ ...
It further contends that only a minority of the genetic material is kept in circular chromosomes while the rest is in branched ... but not human mtDNA).[21] ... 978-1-4020-6570-5. .. *^ a b c d Lee DW, Lee S, Lee GJ, Lee KH ... The new cpDNA structures separate, creating daughter cpDNA chromosomes. In addition to the early microscopy experiments, this ... 978-3-540-68696-5. .. *^ a b c d Clegg MT, Gaut BS, Learn GH, Morton BR (July 1994). "Rates and patterns of chloroplast DNA ...
They argue that this is an issue with respect to the human right to water and sanitation and also from the perspective of the ... chromosomes and anatomy' at birth.[32] ... "Public Hygiene Lets Us Stay Human (PHLUSH). Retrieved June 22, ... The Human Rights Campaign, an LGBTQ advocacy group, recommends that employers grant access, and use, to public toilets ... Human Rights Campaign. "Restroom Access for Transgender Employees." Retrieved from "Restroom Access for Transgender Employees" ...
This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by expanding it. ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. ... I. Studies with recombinant human ZPA, ZPB, and ZPC". Fertil. Steril. 83 (6): 1780-90. doi:10.1016/j.fertnstert.2004.12.042. ... 2008). "Zona pellucida components are present in human fetal ovary before follicle formation". Mol. Cell. Endocrinol. 289 (1-2 ...
One research team found a correlation in male fruit flies and discussed it as a possibility in other species, even humans.[35] ... chromosome localization, and functional expression of cDNA clones". Biochemistry. 30 (44): 10640-6. doi:10.1021/bi00108a006. ... Palma C, Maggi CA (2000). "The role of tachykinins via NK1 receptors in progression of human gliomas". Life Sciences. 67 (9): ... Gerard NP, Garraway LA, Eddy RL, Shows TB, Iijima H, Paquet JL, Gerard C (Nov 1991). "Human substance P receptor (NK-1): ...
This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by expanding it. *v ... Apolipoprotein C-IV, also known as apolipoprotein C4, is a protein that in humans is encoded by the APOC4 gene.[5][6] ... Human APOC4 genome location and APOC4 gene details page in the UCSC Genome Browser. ... 2002). "Regulated expression of the apolipoprotein E/C-I/C-IV/C-II gene cluster in murine and human macrophages. A critical ...
When a human is conceived, it gets 23 chromosomes from its mother and 23 from its father. If it does not get the right number ... For example, Down syndrome happens when there are three copies of chromosome #21. (Usually people have 2 of every chromosome.) ... This developing human is called an embryo for the first eight weeks of the pregnancy, and fetus for the rest of the pregnancy. ... Humans can also chose to end the pregnancy before birth takes place. This is called an induced abortion. Often, the term ...
... in males with normal chromosomes because they have only one X chromosome and few of the same genes are on the Y chromosome. ... Human Molecular Genetics, 2nd edition by Tom Strachan and Andrew P. Read Chapter 17. (1999). ... A chromosome in a diploid organism is hemizygous when only one copy is present.[2] The cell or organism is called a hemizygote ... Most eukaryotes have two matching sets of chromosomes; that is, they are diploid. Diploid organisms have the same loci on each ...
Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene.[5] ... Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... Poleev A, Fickenscher H, Mundlos S, Winterpacht A, Zabel B, Fidler A, Gruss P, Plachov D (November 1992). "PAX8, a human paired ... PAX8+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) ...
"Is the human race evolving or devolving?". Scientific American. From a biological perspective, there is no such thing as ... ISBN 978-0-674-03248-4.. *^ a b Carroll SB (2001). "Chance and necessity: the evolution of morphological complexity and ... 44 (4): 363-373. doi:10.1134/s0031030110040015.. *^ Sharov, Alexei A (2006). "Genome increase as a clock for the origin and ... 68 (4): 686-91. doi:10.1128/MMBR.68.4.686-691.2004. PMC 539005. PMID 15590780.. CS1 maint: Multiple names: authors list (link) ...
Before the production of the pituitary hormone luteinizing hormone (LH) by the embryo starting at about weeks 11-12, human ... In males, certain Y chromosome genes, particularly SRY, control development of the male phenotype, including conversion of the ... Häggström, Mikael; Richfield, David (2014). "Diagram of the pathways of human steroidogenesis". WikiJournal of Medicine. 1 (1 ... A minor population of nonepithelial cells appear between the tubules by week 8 of human fetal development. These are Leydig ...
... is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6 (not to be ... These unique chromosomes are produced by recombination of each unique chromosome passed by each grandparent to each parent. ... At 4.7 million nucleotides in length, A1::DQ2 is the second longest haplotype identified within the human genome.[1] A1::DQ2 ... December 1993). "Human leukocyte antigen A1-B8-DR3-DQ2-DPB1*0401 extended haplotype in autoimmune hepatitis". Hepatology. 18 (6 ...
These tumors show a high frequency of co-deletions of the p and q arms of chromosome 1 and chromosome 19 respectively (1p19q co ... Human brains are surrounded by a system of connective tissue membranes called meninges that separate the brain from the skull. ... The brains of humans and other vertebrates are composed of very soft tissue and have a gelatin-like texture. Living brain ... "IARC classifies radiofrequency electromagnetic fields as possibly carcinogenic to humans" (PDF). World Health Organization ...
Because RPS6KA3 is located on the X chromosome, males (who possess only one copy of the X chromosome) display more severe ... "Coffin-Lowry syndrome". European Journal of Human Genetics 18, 627-633 (2010). doi:10.1038/ejhg.2009.189 ... The syndrome is caused by mutations in the RPS6KA3 gene.[1] This gene is located on the short arm of the X chromosome (Xp22.2 ... A condition is considered X-linked if the gene that causes the disorder is located on the X chromosome (one of the two sex ...
In humans, PR is encoded by a single PGR gene residing on chromosome 11q22,[5][6][7] it has two isoforms, PR-A and PR-B, that ... "The progesterone receptor gene maps to human chromosome band 11q13, the site of the mammary oncogene int-2". Proceedings of the ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. .mw-parser-output ... The single-copy human (hPR) gene uses separate promoters and translational start sites to produce two isoforms, hPR-A and -B, ...
"American Journal of Human Genetics. 64 (1): 225-31. doi:10.1086/302198. PMC 1377721. PMID 9915962.. ... By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... Van Den Berghe, Pierre L (2010). "Human inbreeding avoidance: Culture in nature". Behavioral and Brain Sciences. 6: 91-102. doi ... HumansEdit. See also: Incest, Incest taboo, Pedigree collapse, and Cousin marriage ...
Deletion in the 22q11.2 region of chromosome 22 has been associated with schizophrenia and autism.[22][23] Schizophrenia and ... An example of pleiotropy is phenylketonuria, an inherited disorder that affects the level of phenylalanine in the human body. ... The disease is caused by a defect in a single gene on chromosome 12 that codes for enzyme phenylalanine hydroxylase , that ... Pleiotropy not only affects humans, but also animals, such as chickens and laboratory house mice, where the mice have the "mini ...
... so each human chromosome can be identified by a characteristic color using whole-chromosome probe mixtures and a variety of ... The chromosomes can be seen in blue. The chromosome that is labeled with green and red spots (upper left) is the one where the ... Then, an interphase or metaphase chromosome preparation is produced. The chromosomes are firmly attached to a substrate, ... Probes that hybridize along an entire chromosome are used to count the number of a certain chromosome, show translocations, or ...
The amelogenin gene has been most widely studied in humans, where it is a single copy gene, located on the X and Y chromosomes ... Differences between the X chromosome and Y chromosome versions of the amelogenin gene (AMELX and AMELY respectively) enable it ... The amelogenin gene's location on sex chromosomes has implications for variability both between the X chromosome form (AMELX) ... Nakahori Y, Takenaka O, Nakagome Y (1991). "A human X-Y homologous region encodes "amelogenin"". Genomics. 9 (2): 264-9. doi: ...
"The DNA sequence of human chromosome 22". Nature 402 (402). ISSN 0028-0836, págs. 489-495.. ... Human Genome Project (2003). "International Consortium Completes Human Genome Project". Human Genome Project Information (en ... U. S. Human Genome Project (2008). Office of Science - U. S. Dpt. of Energy, ed. "Major Events in the U.S. Human Genome Project ... National Human Genome Research Istitute - NHGRI (NIH) (2004). "Scientists Compare Rat Genome With Human, Mouse" (en inglés). ...
1997). "Transcript map of the human chromosome 4p16.3 consisting of 627 cDNA clones derived from 1 Mb of the Huntington's ... Alpha-adducin is a protein that in humans is encoded by the ADD1 gene. Adducins are a family of cytoskeleton proteins encoded ... 1998). "Human alpha-adducin gene, blood pressure, and sodium metabolism". Hypertension. 32 (1): 138-43. doi:10.1161/01.HYP.32.1 ... Gilligan DM, Lieman J, Bennett V (1996). "Assignment of the human beta-adducin gene (ADD2) to 2p13-p14 by in situ hybridization ...
... submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome ...
Chromosome Location * chr9:71320329- 71624092 (+) (NM_001278253) * chr9:71320329- 71624092 (+) (NM_003558) ... 1,2-diacyl-sn-glycero-3-phospho-1D-myo-inositol 4-phosphate + ATP = a 1,2-diacyl-sn-glycero-3-phospho-1D-myo-inositol-4,5- ... Participates in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. Mediates RAC1-dependent reorganization of actin ...
"Evidence for an ancestral alphoid domain on the long arm of human chromosome 2". Human Genetics. 89 (2): 247-9. doi:10.1007/ ... Russian bionet site The dog through evolution Shared synteny of human chromosome 17 loci in Canids An atlas of the chromosome ... The list of organisms by chromosome count describes ploidy or numbers of chromosomes in the cells of various plants, animals, ... 2008). "Chromosome painting shows that skunks (Mephitidae, Carnivora) have highly rearranged karyotypes". Chromosome Research. ...
Chromosome 14 spans more than 107 million DNA building blocks (base pairs) and represents about 3.5 percent of the total DNA in ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 14, one copy inherited from ... Gilbert F. Disease genes and chromosomes: disease maps of the human genome. Chromosome 14. Genet Test. 1999;3(4):379-91. ... Ring chromosome 14 syndrome is caused by a chromosomal abnormality known as a ring chromosome 14 or r(14). A ring chromosome is ...
So, the human Y chromosome looks just as different from a chimp as the other human chromosomes do from a chicken. And to ... the human and chimp Y chromosomes were constructed entirely differently. On the human Y chromosome, there were found four major ... Human-Chimp Genetic Similarity: Is the Evolutionary Dogma Valid? * New Human-Chimp Chromosome 2 Data Challenge Common Ancestry ... within the chimpanzee Y chromosome had less than 10 percent similarity with the same class in the human Y chromosome, and vice ...
1999 Feb 4;18(5):1185-96. Research Support, U.S. Govt, P.H.S. ... The applicability of chromosome 9 allelic losses as non- ... Superimposed histologic and genetic mapping of chromosome 9 in progression of human urinary bladder neoplasia: implications for ... Allelic losses of chromosome 9 were associated with expansion of the abnormal urothelial clone which frequently involved large ... The evolution of alterations on chromosome 9, including the putative tumor suppressor genes mapped to the 9p21-22 region (the ...
Chromosome 14 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... "Chromosome 14: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 14: ... "Chromosome 14". Genetics Home Reference. Retrieved 2017-05-06. "Chromosome 14". Human Genome Project Information Archive 1990- ... Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 14". Genet Test. 3 (4): 379-91. ...
The human sex-reversing ATRX gene has a homologue on the marsupial Y chromosome, ATRY: Implications for the evolution of ... A human candidate spermatogenesis gene, RBM1, is conserved and amplified on the marsupial Y chromosome ... Organizational Variation of DYZ1 Repeat Sequences on the Human Y Chromosome and Its Diagnostic Potentials ... Retroposition of autosomal mRNA yielded testis-specific gene family on human Y chromosome ...
The DNA sequence and comparative analysis of human chromosome 5. J. Schmutz et al. ... Chromosome 5 allele loss in human colorectal carcinomas. Solomon, E. et al. ... Association between IL-4 genotype and IL-4 production in the Japanese population. Nakashima, H. et al. ...
Does Barcoding DNA Reveal a Single Human Ancestral Pair?. I dont think the study can claim all the things it does based on the ... On Prejudiced Models and Human Origins. Recently Dennis Venema joined with Scot McKnight to publish a book, Adam and the Genome ... Mitochondrial Eve and Y-Chromosome Adam, and Adam and the Genome. Both evolutionists and Darwin-skeptics believe that all ... in which they claim that there never was an original pair of humans like Adam and Eve. ...
Chromosome 8 spans more than 146 million DNA building blocks (base pairs) and represents between 4.5 and 5 percent of the total ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 8, one copy inherited from ... Ensembl Human Map View: Chromosome 8. *Feenstra I, van Ravenswaaij CM, van der Knaap MS, Willemsen MA. Neuroimaging in nine ... Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy. Prenat Diagn. 2006 Dec;26(13): ...
... Nature. 1985 Nov 28-Dec 4;318(6044):384-5. doi: 10.1038/ ... Here we report tight linkage between the CF locus and an anonymous DNA probe, pJ3.11, which has been assigned to chromosome ...
HUMAN HEREDITY presents the concepts of human genetics in clear, concise language and provides relevant examples that you can ... 6. Cytogenetics: Karyotypes and Chromosome Aberrations. 7. Development and Sex Determination. 8. The Structure, Replication, ... Human Heredity: Principles and Issues / Edition 9. HUMAN HEREDITY presents the concepts of human genetics in clear, concise ... Empowerment Series: Understanding Human Behavior and the Social Zastrow and Kirst-Ashmans UNDERSTANDING HUMAN BEHAVIOR AND THE ...
4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. ... Human chromosome 20. Human chromosome 20: entries, gene names and cross-references to MIM ... List of human entries with polymorphisms or disease mutations. *Human polymorphisms and disease mutations. Index of human ... "The consensus coding sequences of human breast and colorectal cancers.". Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J. ...
Catalyzes the phosphorylation of phosphatidylinositol 5-phosphate (PtdIns5P) on the fourth hydroxyl of the myo-inositol ring, ... 5-bisphosphate (PtdIns(4,5)P2). May exert its function by regulating the levels of PtdIns5P, which functions in the cytosol by ... Human chromosome 10. Human chromosome 10: entries, gene names and cross-references to MIM ... List of human entries with polymorphisms or disease mutations. *Human polymorphisms and disease mutations. Index of human ...
Media in category "Genes on human chromosome 4". The following 11 files are in this category, out of 11 total. ... Category:Genes on human chromosome 4. From Wikimedia Commons, the free media repository ... human chromosome (en); 人類染色體 (zh-hk); 人类染色体 (zh); menschliches Chromosom (de) 4. kromozom (tr); Chromosome 4, Chromosome 4 ( ... human chromosome 4 (en); صبغي 4 (ar); χρωμόσωμα 4 (el); kromosomi 4 (fi) cromosoma umano (it); মানব ক্রোমোজোম (bn); chromosome ...
Chromosome 8 (human). File:Human male karyotpe high resolution - Chromosome 8 cropped.png. Human chromosome 8 pair after G- ... Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 ... See also: Category:Genes on human chromosome 8.. The following are some of the gene count estimates of human chromosome 8. ... File:Human male karyotpe high resolution - Chromosome 8.png. Chromosome 8 pair. in human male karyogram. ...
Chromosomes Chromosomes, Human, 4-5 Female Growth Disorders Humans Infant Karyotyping Male Motor Activity Phenotype Trisomy ... Partial trisomy for short and long arm of chromosome no. 5: Two cases of two possible syndromes. B Zabel, W Baumann, J Gehler, ... Partial trisomy for short and long arm of chromosome no. 5: Two cases of two possible syndromes. Journal of medical genetics. ... families with malformation-retardation syndromes caused by a partial trisomy of the long and of the short arm of chromosome 5, ...
Chromosomes and Human Inheritance. 13. DNA Structure and Function. 14. From DNA to Protein. 15. Controls Over Genes. 16. ... 4. Cell Structure and Function. 5. A Closer Look at Cell Membranes. 6. Ground Rules of Metabolism. 7. Where It Starts? ...
1) Venters team used his DNA to generate an assembled diploid human genomic DNA sequencefrom both chromosomes. In the article ... the authors compared Venters sequence to reference human genome sequences to enable the study of human DNA. Transferring the ... With the help of IBMs Hyperledger fabric, DNAtix transferred the chromosome of genome pioneer Craig Venter, an accomplishment ... announced the first successful transfer of a complete chromosome using blockchain technology. ...
Textbook solution for Chemistry In Focus 7th Edition Tro Chapter 4 Problem 42E. We have step-by-step solutions for your ... Daughter cells have the following chromosome content. Has this cel.... Human Heredity: Principles and Issues (MindTap Course ... 5 H 2 O molecules b . 58 CH 4 molecules c . 1 .4 × 10 22 C 12 H 22 O 11 molecules d . 14 dozen NH 3 molecules ... 5. H. 2. O. molecules. ×. 2. H atoms. 1. H. 2. O. molecule. =. 10. H atoms. ...
The major goals of the workshop were: (1) to collate the various genetic, cytogenetic and physical maps of human chromosome 5 ... web site for the human chromosome 5 community which contains the above information in a readily accessible form. ... to catalogue the sequence-ready contigs of the chromosome; (4) to co-ordinate the various sequencing efforts to avoid future ... The Fourth International Workshop on Human Chromosome 5 was held in Manchester, UK on November 9--10, 1996 and was hosted by ...
In the cell cycle, at which stages do two chromatids make up one chromosome? a. beginning of mitosis b. end of .... Human ... How Are We Affecting the Earth? Section 1.2 What are the two key concepts for this section? How have humans imp.... ... 3-4, predict which bond in each of the following groups will be the most polar. a. CF, SiF, .... Chemistry: An Atoms First ... 4. At sea level, the normal percentage of carbon dioxide (CO2) in the atmosphere is A. 5% B. 40% C. 78% D. 0.03.... ...
... to localize TMS1 to human chromosome 16. Fine mapping was carried out using radiation hybrid panels (Stanford RH Panel G3 and ... A, Northern blots of poly(A)+ RNA isolated from various normal human tissues and human tumor-derived cell lines hybridized to a ... Passage 7 HMECs were obtained from Clonetics (Walkersville, MD). Other human breast cell lines and 293 human embryonic kidney ... bacterial artificial chromosome; CARD, caspase recruitment domain; EST, expressed sequence tag; HMEC, human mammary epithelial ...
New Human-Chimp Chromosome 2 Data Challenge Common Ancestry Claims. Acts & Facts. 40 (5): 6. ... New Chromosome Research Undermines Human-Chimp Similarity Claims. Acts & Facts. 39 (4): 4-5. ... except for a recent study on the Y chromosome, which was found to be remarkably different from human.7 Once similar data are ... Arent human-chimp genetic comparisons simply a logical extension of a process everyone would accept as valid and factual?" ...
Haplotype Phylogeny of a 200kb Region in the Human Chromosome X Terminal Band (q28). Sangsoo Kim. Genomics & Informatics 2008 ... Mapping human genetic diversity in Asia. HUGO Pan-Asian SNP Consortium, Abdulla MA, Ahmed I, Assawamakin A, Bhak J, Brahmachari ... Transcriptome analysis of human gastric cancer JH. Oh, J.O. Yang, Y. Hahn, M-R. Kim, S-S. Byun, Y-J. Jeon, J-M. Kim, K-S. Song ... 2007 Oct 31;39(5):641-52. PMID: 18059140 Meta- and gene set analysis of stomach cancer gene expression data Kim SY, Kim JH, Lee ...
A genetic linkage map of 32 loci on human chromosome 10.. Bowden DW, Gravius TC, Green P, Falls K, Wurster-Hill D, Noll W, ... Genetic linkage map of 46 DNA markers on human chromosome 16.. Keith TP, Green P, Reeders ST, Brown VA, Phipps P, Bricker A, ... Framework multipoint map of the long arm of human chromosome 4 and telomeric localization of the gene for FSHD. ... Phosphoenolpyruvate carboxykinase (GTP): characterization of the human PCK1 gene and localization distal to MODY on chromosome ...
"Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p". J. Med. Genet. 43 ( ... hands in the case of humans, wings in the case of birds, and fins in the case of whales). All of these animals are tetrapods, ... 5] Many people, especially practitioners of parkour and freerunning and Georges Héberts Natural Method,[6] find benefit in ...
Chromosome: chr20 Genbank ID: NM_020820 Orientation: - Length coding sequence : 4977 nucleotides. Region. start. end. region ... PhastCons conservation scores derived from multiple alignments of 45 vertebrate genomes to the human genome. UCSC genome ... The Gene Browser allows to navigate the human genome and investigate the relationship between PDB entries and genes. ... Previous Names: "phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1" ...
... chromosome dynamics in human pre‐implantation embryos remains elusive, largely due to the restricted availability of human ... Dosage compensation in human pre‐implantation embryos: X‐chromosome inactivation or dampening?. Roni Saiba, Maniteja Arava, ... the human counterparts also have many genes inactivated in one of the X‐chromosomes. In mouse, there are two forms of X‐ ... chromosomes during embryonic development, a phenomenon known as X‐chromosome inactivation [1]. Studies have shown that like ...
  • One of the main deficiencies with the original chimpanzee genome sequence published in 2005 3 was that it was a draft sequence and only represented a 3.6-fold random coverage of the 21 chimpanzee autosomes, and a 1.8-fold redundancy of the X and Y sex chromosomes. (icr.org)
  • In the 2005 chimpanzee genome project and resulting Nature journal publication, the sequence contigs 4 were not assembled and oriented based on a map of the chimpanzee genome, but rather on a map of the human genome. (icr.org)
  • Given the fact that the chimpanzee genome is at least 10 percent larger 5 overall than the human genome, this method of assembly was not only biased toward an evolutionary presupposition of human-chimp similarity, but was also inherently flawed. (icr.org)
  • Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). (wikipedia.org)
  • Disease genes and chromosomes: disease maps of the human genome. (wikipedia.org)
  • Recently Dennis Venema joined with Scot McKnight to publish a book, Adam and the Genome , in which they claim that there never was an original pair of humans like Adam and Eve. (evolutionnews.org)
  • With the help of IBM's Hyperledger fabric, DNAtix transferred the chromosome of genome pioneer Craig Venter , an accomplishment which further propels humanity into new discoveries in the cutting-edge frontier of genetics research and solutions. (ntbinfo.no)
  • In the article, the authors compared Venter's sequence to reference human genome sequences to enable the study of human DNA. (ntbinfo.no)
  • Our next goal is to transfer a full human genome sequence over the blockchain to enable genetic information to be shared in an anonymous and secure way," said Dr. Tal Sines, DNAtix Chief Science Officer and co-founder. (ntbinfo.no)
  • It is symbolic that the first chromosome transferred over the blockchain is Venter's as he was one of the key players in the completion of the first human genome ever sequenced as part of the human genome project," added Dr. Sines. (ntbinfo.no)
  • When the human genome project was completed in 2003 after 13 years, the costs for sequencing a single genome summed up to US $3B, today full genome sequencing can be completed at the price of approximately US $450 and will soon reach less than US $100. (ntbinfo.no)
  • The diploid genome sequence of an individual human. (ntbinfo.no)
  • The Gene Browser allows to navigate the human genome and investigate the relationship between PDB entries and genes. (rcsb.org)
  • PhastCons conservation scores derived from multiple alignments of 45 vertebrate genomes to the human genome. (rcsb.org)
  • According to the Human Genome Project Information Web site (December 9, 2003, http://www.ornl.gov/sci/techresources/Human_Genome/medicine/assist.shtml), which is operated by the Department of Energy, there are an estimated 6,000 known single-gene disorders, which occur in about 1 in every 200 births. (encyclopedia.com)
  • Since human genome varies from individual to individual, no two individuals are alike genetically or phenotypically. (frontiersin.org)
  • Nothing has turned up in Human Genome Project BLASTNn nor completed nematode genome searches but these too are subject to limitations of the query and progress to date. (mad-cow.org)
  • We have ignored the contribution of the sex chromosomes to genome-wide IBD. (gnxp.com)
  • The closest homology and similarity in genome organization is to HHV-7 and next to human cytomegalovirus (HCMV). (cdc.gov)
  • Single-cell genome analyses reveal the amount of mutations a human brain cell will collect from its fetal beginnings until death. (the-scientist.com)
  • Here, we have compared the entire human chromosome 21 with syntenic regions of the mouse genome, and have identified a large number of conserved blocks of unknown function. (epfl.ch)
  • In a separate project, an international consortium of researchers has sequenced the genome of the Anopheles gambiae mosquito*, which transmits the parasite to humans. (sanger.ac.uk)
  • The draft human genome was published by an international consortium in February 2001. (sanger.ac.uk)
  • The work was carried out in the UK at the Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, which also carried out one-third of the human genome sequencing programme , and in the USA at The Institute for Genomic Research and Stanford University . (sanger.ac.uk)
  • The Plasmodium falciparum genome, which consists of 24 million base pairs of DNA is divided into 14 chromosomes- compared to 23 in the human genome. (sanger.ac.uk)
  • The Institute for Genome Research (TIGR) sequenced 2, 10, 11 and 14 : Stanford sequenced chromosome 12. (sanger.ac.uk)
  • Staff Scientist 1989-1990 at the Human Genome Center, Lawrence Berkeley Laboratories, California, USA. (ub.edu)
  • 9. Uncovering the Architecture and Workings of the Human Genome. (akademika.no)
  • The GENCODE Genes track (version 33, Jan 2020) shows high-quality manual annotations merged with evidence-based automated annotations across the entire human genome generated by the GENCODE project . (ucsc.edu)
  • Human Genetics. (wikipedia.org)
  • HUMAN HEREDITY presents the concepts of human genetics in clear, concise language and provides relevant examples that you can apply to yourself, your family, and your work environment. (barnesandnoble.com)
  • 1. A Perspective on Human Genetics. (barnesandnoble.com)
  • 4. Pedigree Analysis in Human Genetics. (barnesandnoble.com)
  • 19. Population Genetics and Human Evolution. (barnesandnoble.com)
  • TEL-AVIV, Israel, June 29, 2018 (GLOBE NEWSWIRE) -- Digital DNAtix Ltd ., the genetics blockchain company, announced the first successful transfer of a complete chromosome using blockchain technology. (ntbinfo.no)
  • Final Review Quarter 4 Genetics Ch. 5, 6, 7 1. (coursehero.com)
  • European Journal of Human Genetics 15(9): 936-942. (els.net)
  • With the development of various molecular techniques the application of genetics to the study of human evolution gave rise to the fields of molecular evolution and molecular anthropology. (frontiersin.org)
  • Research in the Department spans both model and pathogenic organisms and the full spectrum of genetics from unicellular to multicellular eukaryotic organisms, including mice and humans. (duke.edu)
  • Tom Strachan is Emeritus Professor of Human Molecular Genetics at Newcastle University, Newcastle, UK, and is a Fellow of the Royal Society of Edinburgh and a Fellow of the Academy of Medical Sciences. (akademika.no)
  • He was the founding Head of Institute at Newcastle University's Institute of Human Genetics (now the Institute of Genetic Medicine) and its Scientific Director from 2001 to 2009. (akademika.no)
  • Andrew Read is Emeritus Professor of Human Genetics at the University of Manchester, UK and a Fellow of the Academy of Medical Sciences. (akademika.no)
  • He established one of the first DNA diagnostic laboratories in the UK over 20 years ago (it is now one of two National Genetics Reference Laboratories), and was founder chairman of the British Society for Human Genetics, the main professional body in this area. (akademika.no)
  • Human Molecular Genetics has been carefully crafted over successive editions to provide an authoritative introduction to the molecular aspects of human genetics, genomics and cell biology.Maintaining the features that have made previous editions so popular, this fifth edition has been completely updated in line with the latest developments in the field. (akademika.no)
  • 12. Human Population Genetics. (akademika.no)
  • 19. Cancer Genetics and Genomics.Part 5: Applied Human Molecular Genetics 20. (akademika.no)
  • With every edition, the authors have improved their significant contribution to the field of human molecular genetics teaching. (akademika.no)
  • In: Mulvihill JJ, Miller RW, Fraumeni JF Jr (eds) Genetics of human cancer. (springer.com)
  • To date, at least one major criticism still holds true, pending new research reports: The physical arrangement of chimp DNA sequence is largely based on the human genomic framework, except for a recent study on the Y chromosome, which was found to be remarkably different from human. (icr.org)
  • If it is true that humans are 95 to 99 percent identical to chimps at the genetic level, the evolutionist has only 1 to 5 percent of a genomic difference to work with. (icr.org)
  • 1) Venter's team used his DNA to generate an assembled diploid human genomic DNA sequence from both chromosomes. (ntbinfo.no)
  • The genomic sequence of human chromosome 21q was recently completed with 225 annotated genes, thus permitting efficient identification and precise mapping of potential cSNPs by bioinformatics approaches. (epfl.ch)
  • The maize chromosomes are found in varying numbers in the first cells of the embryo but are then selectively eliminated to leave only the wheat genomic complement. (umanitoba.ca)
  • The signs and symptoms of recombinant 8 syndrome are related to the loss of genetic material on the short arm of chromosome 8 and the presence of extra genetic material on the long arm of chromosome 8. (medlineplus.gov)
  • Partial trisomy for short and long arm of chromosome no. 5: Two cases of two possible syndromes. (nextbio.com)
  • Francke U, Francke BR (1979) Assignment of gene(s) required for herpes simplex virus Type I (HVIS) replication to the long arm of chromosome 11. (springer.com)
  • Here we present an extensive experimental and computational analysis of human chromosome 21 in an effort to assign function to sequences conserved between human chromosome 21 (ref. 8) and the syntenic mouse regions. (epfl.ch)
  • Basic Cell Biology: Structure and Function of Genes and Chromosomes -- 3. (princeton.edu)
  • Here we report tight linkage between the CF locus and an anonymous DNA probe, pJ3.11, which has been assigned to chromosome 7cen-q22. (nih.gov)
  • The Th2 gene locus is located on human chromosome 5q31 and mouse chromosome 11. (jimmunol.org)
  • However, after years of understandable confusion , the FMF susceptibility locus ( MEFV ) was mapped to chromosome 16p13 -- it encodes a 3.7-kb transcript expressed almost exclusively in mature granulocytes. (mad-cow.org)
  • The result is a data set consisting of thousands of random sequencing contigs, or islands of contiguous sequence that need to be oriented and placed in position on their respective chromosomes. (icr.org)
  • Before getting into the details of their results, it is important to understand that for the first time, the chimpanzee DNA sequence for a chromosome was assembled and oriented based on a Y chromosome map/framework built for chimpanzee and not human. (icr.org)
  • As a result, the chimpanzee DNA sequence could then be more accurately compared to the human Y chromosome because it was standing on its own merit. (icr.org)
  • On the human Y chromosome, there were found four major categories of DNA sequence that occupy specific regions. (icr.org)
  • Just as a continent like Europe is divided into countries because of different people groups, so are chromosomes with different categories of DNA sequence. (icr.org)
  • One sequence class, or category containing DNA with a characteristic sequence, within the chimpanzee Y chromosome had less than 10 percent similarity with the same class in the human Y chromosome, and vice versa. (icr.org)
  • An SRY-related sequence on the marsupial X chromosome: implications for the evolution of the mammalian testis-determining gene. (pnas.org)
  • Given the gross similarities between anatomy and physiology, it is not surprising to creation researchers that humans and chimps exhibit similarity in DNA sequence. (icr.org)
  • Transferring the full sequence of a virus was a challenging project but it is 'a piece of cake' compared to transferring the sequence of a full chromosome," says Ofer A. Lidsky, CEO & CTO and Co-founder of DNAtix . (ntbinfo.no)
  • DNAtix is the first company to successfully transfer a genetic sequence over the Ethereum Blockchain, and now the first to transfer a complete chromosome. (ntbinfo.no)
  • We then extended our analysis, applying this method to the entire sequence of the human X chromosome, in an effort to define stratum boundaries. (jax.org)
  • The results represent a step toward explaining some of the more peculiar attributes of the human Y as well as preliminary Y-linked sequence data from other mammals and Drosophila. (genetics.org)
  • The integration of the properties of the conserved components of human chromosome 21 to the rapidly accumulating functional data for this chromosome will improve considerably our understanding of the role of sequence conservation in mammalian genomes. (epfl.ch)
  • To date we have identified 377 cSNPs averaging ~1 SNP per 1.5 kb of transcribed sequence, covering 65% of known genes in the chromosome. (epfl.ch)
  • DT 28-NOV-2006, sequence version 4. (genome.jp)
  • RT "The DNA sequence of human chromosome 21. (genome.jp)
  • In a small fraction of tumours, mismatch repair deficiency leads to a microsatellite instability at the nucleotide sequence level 4,5 . (nature.com)
  • The reasons for this are numerous, but primarily it stems from the mounting realization that research programs focused solely on DNA sequence variation, despite their breadth and depth, are unlikely to address all fundamental aspects of human biology. (buchfreund.de)
  • The DNA sequence and biological annotation of human chromosome 1. (wikipedia.org)
  • So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (wikipedia.org)
  • This protein was previously thought to be a phosphatidylinositol 4-phosphate 5-kinase. (uniprot.org)
  • TMS1 is localized to chromosome 16p11.2-12.1 and encodes a 22-kDa predicted protein containing a COOH-terminal caspase recruitment domain, a recently described protein interaction motif found in apoptotic signaling molecules. (aacrjournals.org)
  • Recombinant human AKR1D1 protein, fused to His-tag at N-terminus, was expressed in E. coli and purified by using conventional chromatography techniques. (creativebiomart.net)
  • the closest markers are about 75.20 cM mouse prion are PCNA (proliferating cell nuclear antigen, P17918 or P12004 and Hs.78996 UniGene in humans), Evi4 ( ecotropic viral integration site 4, unmapped in humans), CHGB (chromogranin B or secretogranin I, P16014 ), and Bmp2 (bone morphogenetic protein 2 P21274 ). (mad-cow.org)
  • Variants 3, 4, and 5 encode the same protein. (origene.com)
  • Iroquois-class homeodomain protein IRX-2 , also known as Iroquois homeobox protein 2 , is a protein that in humans is encoded by the IRX2 gene . (wikidoc.org)
  • RT "Identification of a novel zinc finger protein gene (ZNF298) in the RT GAP2 of human chromosome 21q. (genome.jp)
  • The UBE2N/MMS2 and UBE2N/Uev1A heterodimers catalyze different modes of target protein ubiquitination to mediate various signaling pathways (3-5) including: DNA damage and recombination, p53 and check point control, the cell cycle (6-10), immunoreceptor signaling (11,12), and endocytosis (13). (cellsignal.com)
  • Link protein mRNA levels were slightly elevated, but only at the 5-h time point. (jove.com)
  • 5-HT4 receptor ( 5-hidroksitriptaminski receptor 4 ) je protein koji je kod ljudi kodiran HTR4 genom . (wikipedia.org)
  • Ovaj gen je član familije serotoninskih receptora, koji su G protein spregnuti receptori koji stimulišu cAMP produkciju u responsu na vezivanje serotonina (5-hidroksitriptamina). (wikipedia.org)
  • The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. (origene.com)
  • The Calcium homoeostasis endoplasmic reticulum protein (CHERP) gene has been recently identified and localized on chromosome 19p13.1. (abcam.com)
  • Phosphatase and tensin homolog deleted on chromosome 10 (PTEN) is a lipid and protein phosphatase that coordinates various cellular processes. (hindawi.com)
  • Phosphatase and tensin homolog deleted on chromosome 10 (PTEN) is a member of the protein tyrosine phosphatase (PTP) superfamily. (hindawi.com)
  • The best available location of the human prion gene seems to be 20pter12.17 or about 9,448,000 bp in from the telomere on the short arm of chromosome 20. (mad-cow.org)
  • For example, "chromosome 11p13" refers to band 13 on the short arm of chromosome 11. (rarediseases.org)
  • and the Center for Genomics of Microbial Systems (GeMS) brings together investigators focused on microbial communities and their interactions, including the human microbiome and environmental niches. (duke.edu)
  • 5. The Inheritance of Complex Traits. (barnesandnoble.com)
  • Moreover, we identify shifts associated with other complex traits, suggesting that polygenic adaptation has played a pervasive role in shaping genotypic and phenotypic variation in modern humans. (datadryad.org)
  • Quantitative geneticists attempt to understand variation between individuals within a population for traits such as height in humans and the number of bristles in fruit flies. (gnxp.com)
  • 4. The data table where all the data is combined, shows how many ACTUAL offspring would have each of the traits. (biologycorner.com)
  • Gene silencing associated with aberrant methylation of promoter region CpG islands is an acquired epigenetic alteration that serves as an alternative to genetic defects in the inactivation of tumor suppressor and other genes in human cancers. (aacrjournals.org)
  • Dosage compensation in human pre‐implantation embryos: X‐chromosome inactivation or dampening? (embopress.org)
  • In contrast, another study reported XIST coating on both X‐chromosomes accompanied by partial exclusion of RNA‐Pol II in most early embryonic cells without the transcriptional silencing of X‐linked genes, indicating incipient X‐inactivation during pre‐implantation development. (embopress.org)
  • 8 Steroid Sulphatase Inactivation Patterns and X-chromosome Inactivation. (indigo.ca)
  • Under evolutionary assumptions of long and gradual genetic changes, the Y chromosome structures, layouts, genes, and other sequences should be much the same in both species, given the relatively short--according to the evolutionary timeline--six-million-year time span since chimpanzees and humans supposedly diverged from a common ancestor. (icr.org)
  • Divergence between samples of chim-panzee and human DNA sequences is 5%, counting indels. (icr.org)
  • In application to human X chromosome, our method correctly classified a concatenated set of 35 previously assayed X-linked gene sequences by evolutionary strata. (jax.org)
  • 2] "Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (tcdb.org)
  • 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . (wikidoc.org)
  • People with ring chromosome 14 syndrome have one copy of this abnormal chromosome in some or all of their cells. (medlineplus.gov)
  • Aneuploidy, an abnormal chromosome number that deviates from a multiple of the haploid, is a common characteristic of tumor cells, occurring in ∼85% of all human cancers ( 1 ). (pnas.org)
  • In other tumours, an abnormal chromosome number (aneuploidy) has suggested an instability, but the nature and magnitude of the postulated instability is a matter of conjecture. (nature.com)
  • 6 Comparative Aspects of Chromosome Replication in Drosophila and Mammals. (indigo.ca)
  • The structures of the eukaryotic and prokaryotic chromosome are described, as are the processes involved in chromosomal replication. (slideshare.net)
  • This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. (genecards.org)
  • Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. (genecards.org)
  • 6. Cytogenetics: Karyotypes and Chromosome Aberrations. (barnesandnoble.com)
  • Clinical Cytogenetics: The Chromosomal Basis of Human Disease -- 7. (princeton.edu)
  • BIOLOGY 203 EXAM 4 MASTER 1) Where does the RNA polymerase II bind DNA to begin transcribing a gene to make pre-mRNA? (coursehero.com)
  • Northern blot hybridization, employing (32)P-labeled cDNA probes, showed that aggrecan steady-state mRNA levels were increased by forskolin and isobutylmethylxanthine after 1 h and 5 h incubation. (jove.com)
  • This group consists of chromosome pairs 4 and 5. (jove.com)
  • Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)
  • Two copies of chromosome 14, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
  • Chromosome 14 spans more than 107 million DNA building blocks (base pairs) and represents about 3.5 percent of the total DNA in cells. (medlineplus.gov)
  • Chromosome 14 is one of the 23 pairs of chromosomes in humans. (wikipedia.org)
  • Using this approach, the authors estimated the amount of total variation for height in humans that is due to genetic factors from 3,375 sibling pairs. (gnxp.com)
  • Comparative analysis between humans and chimpanzees suggests ongoing recombination between the gene duplicate pairs that reside on the same Y chromosome. (genetics.org)
  • Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome, and females have two X chromosomes. (rarediseases.org)
  • 2. Nondisjunction is the failure of chromosome pairs or sister chromatids to separate properly during cell division. (majortests.com)
  • In humans, there are 23 pairs of chromosomes and thousands of genes, but for this exercise, we will only focus on a few. (biologycorner.com)
  • 3. Humans have ___________ pairs of chromosomes. (biologycorner.com)
  • The dad places one set of the homologous pairs (ex: that longer set) behind his back, with a chromosome in each hand. (biologycorner.com)
  • Arrange the chromosomes into homologous pairs and figure out what phenotypes (appearance or trait) the offspring has. (biologycorner.com)
  • A deletion of genetic material from part of the long (q) arm of chromosome 14 can cause FOXG1 syndrome, which is a rare disorder characterized by impaired development and structural brain abnormalities. (medlineplus.gov)
  • A rearrangement of chromosome 8 causes recombinant 8 syndrome, a condition that involves heart and urinary tract abnormalities, moderate to severe intellectual disability, and a distinctive facial appearance. (medlineplus.gov)
  • Asbestos-Induced Mesothelioma and Chromosomal Abnormalities in Human Mesothelial Cells In Vitro. (cdc.gov)
  • Chromosomal disorders are produced by abnormalities in chromosome structure, missing or extra copies of chromosomes, or errors such as translocations (movement of a chromosome section from one chromosome to another). (encyclopedia.com)
  • Somatic mosaicism the presence of genetically distinct populations of somatic cells in a given organism due to DNA mutations/damage or chromosome abnormalities. (messybeast.com)
  • Seabright 1971), it became possible to identify chromosomal abnormalities that were specific for certain neoplastic diseases, including the Philadelphia or Ph 1 chromosome in chronic myelogenous leukemia (CML) (Nowell and Hungerford 1960), t(15;17) in acute progranulocytic leukemia (APL) (Rowley et al. (springer.com)
  • Multiregional continuity hypothesis ( Thorne and Wolpoff, 1992 ) proposes that humans began to migrate out of Africa about 1.5 million years ago as a single evolving species Homo sapiens , distributed throughout the Old World and all regional populations were connected by gene flow as they are today. (frontiersin.org)
  • Its 17 figures are mostly line-drawn maps of human species distributions and migration routes. (docme.ru)
  • Both 15s-HpETE and 15s-HETE were shown to inhibit the growth of cultured human chronic myelogenous leukemia K562 cells by a mechanism associated with reactive oxygen species (ROS) [ 11 , 14 , 15 ]. (hindawi.com)
  • They reason that if a common ancestor was shared by chimps and humans in the recent evolutionary past, the two genomes would have had very little time to deviate from one another. (icr.org)
  • Therefore, fast DB has achieved an advance in alternative splicing databases by providing resources for the functional interpretation of splicing variants for the human and mouse genomes. (biomedcentral.com)
  • As with other clonally inherited chromosomes, each evolutionary lineage of the Y is physically coupled to, and its evolutionary fate is influenced by, the presence of deleterious mutations. (genetics.org)
  • The identification of mutations in two mitotic checkpoint genes in colorectal cancer cell lines suggested a possible mechanism for CIN in human tumors ( 21 ). (pnas.org)
  • Effects of equivalent mutations on the human insulin receptor suggest an altered balance of intracellular signaling in class 2 alleles. (genetics.org)
  • The list of organisms by chromosome count describes ploidy or numbers of chromosomes in the cells of various plants, animals, protists, and other living organisms. (wikipedia.org)
  • A rearrangement (translocation) that moves genetic material from one of several other chromosomes to a region of chromosome 14 called 14q32 occurs in 20 to 60 percent of cases of multiple myeloma, which is a cancer arising from plasma cells, a type of white blood cell. (medlineplus.gov)
  • Alternately, seizures might result from instability of the ring chromosome in some cells. (medlineplus.gov)
  • Here we report the isolation and characterization of TMS1 ( t arget of m ethylation-induced s ilencing), a novel CpG island-associated gene that becomes hypermethylated and silenced in cells overexpressing DNA cytosine-5-methyltransferase-1. (aacrjournals.org)
  • We also show that TMS1 is aberrantly methylated and silenced in human breast cancer cells. (aacrjournals.org)
  • Ectopic expression of TMS1 induced apoptosis in 293 cells and inhibited the survival of human breast cancer cells. (aacrjournals.org)
  • Studies have shown that like murine adult female somatic cells, the human counterparts also have many genes inactivated in one of the X‐chromosomes. (embopress.org)
  • Using multiple approaches, we demonstrate that human Th2 cells are composed of two major subpopulations: a minority IL-5 + (IL-5 + , IL-4 + , IL-13 + ) and majority IL-5 − Th2 (IL-5 − , IL-4 + , IL-13 + ) population. (jimmunol.org)
  • IL-5 + Th2 cells comprised only 20% of all Th2 cells. (jimmunol.org)
  • Serial rounds of in vitro differentiation initially yielded IL-5 − Th2, but required multiple rounds of differentiation to generate IL-5 + Th2 cells. (jimmunol.org)
  • IL-5 + Th2 cells expressed less CD27 and greater programmed cell death-1 than IL-5 − Th2 cells, consistent with their being more highly differentiated, Ag-exposed memory cells. (jimmunol.org)
  • IL-5 + Th2 cells expressed greater IL-4, IL-13, and GATA-3 relative to IL-5 − Th2 cells. (jimmunol.org)
  • GATA-3 and H3K4me 3 binding to the IL5 promoter ( IL5p ) was greater in IL-5 + relative to IL-5 − Th2 cells, whereas there was no difference in their binding to the IL4p and IL13p . (jimmunol.org)
  • Conversely, H3K27me 3 binding to the IL5p was greater in IL-5 − Th2 cells. (jimmunol.org)
  • IL-5 + Th2 cells are phenotypically distinct and have epigenetic changes consistent with greater IL5p accessibility. (jimmunol.org)
  • Recurrent antigenic exposure preferentially drives the differentiation of IL-5 + Th2 cells. (jimmunol.org)
  • These results demonstrate that IL-5 + and IL-5 − Th2 cells, respectively, represent more and less highly differentiated Th2 cell subpopulations. (jimmunol.org)
  • Th2 cells were initially characterized as expressing IL-4, IL-5, and IL-13 ( 1 ). (jimmunol.org)
  • The induction of chromosomal aberrations in human pleural mesothelial cells by asbestos (1332214) was studied in-vitro. (cdc.gov)
  • Human primary pleural mesothelial cells obtained from noncancerous donors by pleural effusion were cultured and treated with 0 to 6.67 micrograms per square centimeter (microg/cm2) amosite (12172735) asbestos. (cdc.gov)
  • Amosite at 0.14 and 0.27microg/cm2 induced a significant incidence of chromosome aberrations, mostly chromatid breaks and gaps, in mesothelial cells. (cdc.gov)
  • Altered cells had a modal chromosome number of 45 and lacked the Y- chromosome. (cdc.gov)
  • The authors conclude that amosite and glass fibers induce chromosome aberrations in human pleural mesothelial cells. (cdc.gov)
  • Initially designated HBLV, for human B-lymphotropic virus, HHV-6 was isolated fortuitously in 1986 from interleukin 2-stimulated peripheral blood mononuclear cells (PBMCs) of patients with AIDS or lymphoproliferative disorders (1) . (cdc.gov)
  • A study on human cells reveals how cellular aging affects the 3-D architecture of chromosomes. (the-scientist.com)
  • Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. (rarediseases.org)
  • Human body cells normally have 46 chromosomes. (rarediseases.org)
  • Western blot analysis of extracts from HeLa, L929 and C6 cells, treated with 4 mM hydroxyurea for 20 hours to induce G1/S phase or treated with 100 nM paclitaxel or 100 ng/ml nocodazole for 20 hours to induce G2/M phase, using Phospho-Aurora A (Thr288)/Aurora B (Thr232)/Aurora C (Thr198) (D11A13) XP ® Rabbit mAb (upper) or Aurora B/AIM1 Antibody #3094 (lower). (cellsignal.com)
  • Human chromosome 3 corrects mismatch repair deficiency and microsatellite instability and reduces N-methyl-N'-N-nitrosoguanidine tolerance in colon tumor cells with homozygous hMLHl mutation. (nature.com)
  • Suppression of tumorigenicity in human colon carcinoma cells by introduction of normal chromosome 5 or 18. (nature.com)
  • Haploidy - is a general term designating individuals or tissues (in mosaics) that have somatic cells with a gametic chromosome number (n). (umanitoba.ca)
  • The loss of chromosomes is gradual so that 3-5 days after pollination, 40% of dividing cells are haploid. (umanitoba.ca)
  • Also, the cycle stops if chromosomes are not distributed accurately to daughter cells. (slideshare.net)
  • Note: Distributed throughout the cytoplasm and also localizes to the perinuclear region of both human erythroleukemia (HEL) cells and Jurkat cells. (abcam.com)
  • 2. Fundamentals of Cells and Chromosomes. (akademika.no)
  • 4. Aspects of Early Mammalian Development, Cell Differentiation, and Stem Cells. (akademika.no)
  • Meiosis is the way that human gametes (sex cells) divide. (openstudy.com)
  • And each of those cells has 23 chromosomes. (openstudy.com)
  • Construction of a 3-Mb contig and partial transcript map of the central region of mouse chromosome 11. (stanford.edu)
  • Genetic mapping of 21 genes on mouse chromosome 11 reveals disruptions in linkage conservation with human chromosome 5. (stanford.edu)
  • Singleton Density Score (SDS) computed for autosomal SNPs with let least 5% minor allele frequency over a set of 3,195 individuals from the UK10K project. (datadryad.org)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 14. (medlineplus.gov)
  • Ring chromosome 14 syndrome is caused by a chromosomal abnormality known as a ring chromosome 14 or r(14). (medlineplus.gov)
  • They were examined for chromosomal aberrations at every passage 3 to 5 days after subculturing. (cdc.gov)
  • For example, different genes that influence breast cancer susceptibility have been found on seven different chromosomes, rendering it more difficult to analyze than single-gene or chromosomal disorders. (encyclopedia.com)
  • Chromosomal translocations between this gene and the ret tyrosine kinase gene, also located on chromosome 10, have been associated with papillary thyroid carcinoma. (origene.com)
  • A chromosomal disorder is a chromosome anomaly, abnormality, or aberration is a missing, extra, or irregular portion of chromosomal DNA. (majortests.com)
  • While complex- ments and oncogenes in malignancy and the ities of older questions of chromosome/ parallelism between the neoplastic and phy- chromatin organization are being understood, logenetic chromosomal alterations are discussed newer dimensions and perspectives have been in the next two chapters. (indigo.ca)
  • This form of chromosomal instability reflected a continuing cellular defect that persisted throughout the lifetime of the tumour cell and was not simply related to chromosome number. (nature.com)
  • Confocal microscopy revealed that CHERP is associated with Ins(1,4,5)P3 receptor throughout the cytoplasm and perinuclear region in Jurkat T lymphocyte. (abcam.com)
  • The Fourth International Workshop on Human Chromosome 5 was held in Manchester, UK on November 9--10, 1996 and was hosted by the University of Manchester. (unt.edu)
  • 1999 Feb 4;18(5):1185-96. (nih.gov)
  • RT "Annotation of human chromosome 21 for relevance to Down syndrome: RT gene structure and expression analysis. (genome.jp)
  • Many mechanisms have been proposed for chromosome loss, including chromosome fragmentation, degradation of chromatin, lagging chromosomes or bridges, non-congressed chromosomes at metaphase or failure of chromosome migration to the anaphase poles. (umanitoba.ca)
  • Please upgrade your browser to a newer version to get the best experience on Human Metabolome Database. (hmdb.ca)
  • The two forms likely have distinct purposes based on differential expression during lymphocyte activation (4,5) and on their localization within the nucleus (5).Cyclin dependent kinases (CDKs) are activated in part by cyclin binding and by phosphorylation of a conserved threonine in the T-loop domain. (cellsignal.com)
  • Arrighi FW, Hsu TC (1971) Localization of heterochromatin in human chromosomes. (springer.com)
  • Jhanwar SC, Neel BG, Hayward WS, Chaganti RSK (1983) Localization of c-ras oncogene family on human germline chromosomes. (springer.com)
  • Assignment of 5-hydroxytryptamine receptor (HTR4) to human chromosome 5 bands q31→q33 by in situ hybridization. (wikipedia.org)
  • Assignment of panopsin (OPN3) to human chromosome band 1q43 by in situ hybridization and somatic cell hybrids. (wikipedia.org)
  • It is only recently that a phase chromosomes are structurally not homo- molecular view of the meiotic cell division is geneous through their length, a new world was beginning to emerge: chapter ten refers to human in the offing. (indigo.ca)
  • Human-Chimp Genetic Similarity: Is the Evolutionary Dogma Valid? (icr.org)
  • 1 A common manifestation of this evolutionary dogma is the claim that humans are 95 to 99 percent genetically identical to chimpanzees. (icr.org)
  • The distinction between quadrupeds and tetrapods is important in evolutionary biology , particularly in the context of tetrapods whose limbs have adapted to other roles (e.g., hands in the case of humans, wings in the case of birds, and fins in the case of whales). (wikipedia.org)
  • With the gradual development of intelligence, human got curious to know his origin and evolutionary background. (frontiersin.org)
  • In this review, we have aimed to throw light on some of the promising molecular markers which are very much in application now-a-days for not only understanding the evolutionary background and ancient migratory routes of humans but also in the field of forensics and human health. (frontiersin.org)
  • Possible evolutionary relationships are explored, as are the chromosomes and relationships of other apes. (indiana.edu)
  • 3. Predictions of similarities of chromosomes, based on the assumption of evolutionary relationships, can be tested. (indiana.edu)
  • 3. demonstrate their understanding that degrees of similarities in chromosomes correspond to degrees of evolutionary relationship. (indiana.edu)
  • 4. associate degrees of similarity with relative timing of evolutionary divergence. (indiana.edu)
  • Oxford grids provide a fully systematic way of comparing synteny between any two mammals and any two chromosomes. (mad-cow.org)
  • Seizures may occur because certain genes on the ring chromosome 14 are less active than those on the normal chromosome 14. (medlineplus.gov)
  • Superimposed histologic and genetic mapping of chromosome 9 in progression of human urinary bladder neoplasia: implications for a genetic model of multistep urothelial carcinogenesis and early detection of urinary bladder cancer. (nih.gov)
  • The evolution of alterations on chromosome 9, including the putative tumor suppressor genes mapped to the 9p21-22 region (the MTS genes), was studied in relation to the progression of human urinary bladder neoplasia by using whole organ superimposed histologic and genetic mapping in cystectomy specimens and was verified in urinary bladder tumors of various pathogenetic subsets with longterm follow-up. (nih.gov)
  • The applicability of chromosome 9 allelic losses as non-invasive markers of urothelial neoplasia was tested on voided urine and/or bladder washings of patients with urinary bladder cancer. (nih.gov)
  • Accordingly, the identification of gene targets of methylation-associated silencing could lead to novel genes involved in the initiation and progression of human neoplasia. (aacrjournals.org)
  • 13 Chromosome Alterations and Oncogenes in Human Neoplasia. (indigo.ca)
  • It has long been considered that genetic instability is an integral component of human neoplasia 1-3 . (nature.com)
  • 2008) A novel A121T mutation in human cationic trypsinogen associated with hereditary pancreatitis: functional data indicating a loss‐of‐function mutation influencing the R122 trypsin cleavage site. (els.net)
  • chromosome such functional attributes of chromosomes as research is no exception. (indigo.ca)
  • Molecular and functional characterization of a 5-HT4 receptor cloned from human atrium. (wikipedia.org)
  • This chromosome abnormality is written rec(8)dup(8q)inv(8)(p23.1q22.1). (medlineplus.gov)
  • Biedler JL, Spengler BA (1976) A novel chromosome abnormality in human neuroblastoma and anti-folate resistant chinese hamster cell lines in culture. (springer.com)
  • LncRNAs can regulate gene expression in many ways, including chromosome remodeling, transcription and post-transcriptional processing. (nih.gov)
  • Because so many diseases are caused by defective chromosomes or defective gene expression, chromosome replacement therapy of the type carried out by chromallocytes would have the potential to stop a variety of diseases, including the number one killer today, heart disease . (wisegeek.com)
  • We show here that colorectal tumours without microsatellite instability exhibit a striking defect in chromosome segregation, resulting in gains or losses in excess of 10 -2 per chromosome per generation. (nature.com)
  • Mayer, V. W. & Aguilera, A. High levels of chromosome instability in polyploids of Saccharomyces cerevisiae . (nature.com)
  • at the end of the S stage, each chromosome has two identical DNA double helix molecules, called sister chromatids. (slideshare.net)
  • Repeat this procedure for the other homologous pair (ex: shorter set) and for the sex chromosomes. (biologycorner.com)
  • 2. identify examples of inversion in homologous chromosomes. (indiana.edu)
  • Chromosome 14 likely contains 800 to 900 genes that provide instructions for making proteins. (medlineplus.gov)
  • Chromosome 8 likely contains about 700 genes that provide instructions for making proteins. (medlineplus.gov)
  • The bile acid intermediates 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one and 7-alpha-hydroxy-4-cholesten-3-one can also act as substrates. (hmdb.ca)
  • AKR1D1 is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones which carry a delta (4)-3-one structure. (creativebiomart.net)
  • 1] "Complete sequencing and characterization of 21,243 full-length human cDNAs. (tcdb.org)
  • The large, submetacentric human chromosomes, called group B in the human chromosome classification. (jove.com)
  • Even more, novel chromosome techniques tion by flow cytometry, and mapping of structural- have become an integral component of clinical ly and functionally distinct domains on metaphase and molecular genetic methodologies. (indigo.ca)
  • Considering both gene conversion and crossing over on the Y, recombination can be viewed as a factor that either constrains (via gene conversion) or promotes (via crossing over) Y chromosome degeneration. (genetics.org)
  • Lin X, Wu JF, Wang DM, Zhang J, Zhang WJ, Xue G. The correlation and role analysis of KCNK2/4/5/15 in Human Papillary Thyroid Carcinoma microenvironment. (jcancer.org)
  • Application of various molecular meiosis and the next to molecular events in techniques in chromosome research has subse- meiotic prophase in the baker's yeast. (indigo.ca)
  • SamuelAlden917 Kangaroos have 8 chromosomes in their gametes, after meiosis. (openstudy.com)
  • 5 Examination of the Structure and Function of the Mammalian Centromere. (indigo.ca)
  • The title of the recent journal article accurately sums up the research findings: 'Chimpanzee and Human Y Chromosomes are Remarkably Divergent in Structure and Gene Content. (icr.org)
  • One differed by as much as 3.3-fold (330 percent), and a class specific to human 'has no counterpart in the chimpanzee MSY [male-specific Y chromosome]. (icr.org)
  • This region shows a significant divergence between human and chimpanzee , suggesting that its high mutation rates have contributed to the evolution of the human brain. (wikidoc.org)
  • Human and Chimpanzee Karyotypes packet (four figures: 2a-2d) on 4 pages. (indiana.edu)
  • These robots would penetrate the wall of the cell, navigate to the nucleolus , remove all the chromatin content, and replace it with chromosomes custom-designed in a laboratory, using an artificial proboscis. (wisegeek.com)
  • The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. (uniprot.org)
  • The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by calcium-activated phosphatidylinositol-specific phospholipase C enzymes. (hmdb.ca)
  • Smaller molecules pass more easily than larger molecules 4. (majortests.com)
  • Human genes are transcribed as messenger RNA precursor molecules (pre-mRNAs), which are composed of short exons separated by much longer introns. (biomedcentral.com)
  • These differences cause translation initiation at a downstream AUG. This variant (5) also lacks an exon in the 3' coding region, which results in a frameshift and use of a downstream stop codon, compared to variant 1. (origene.com)
  • Most human genes produce several transcripts with different exon contents by using alternative promoters, alternative polyadenylation sites and alternative splice sites. (biomedcentral.com)
  • Carrit B, Goldfarb P (1976) A human chromosome determinant for susceptibility to herpes simplex virus. (springer.com)
  • The causative agent was identified as a herpesvirus by electron microscopy and lack of cross-hybridization to a number of human herpesviruses (2) . (cdc.gov)
  • 1 DNA Organization in the Interphase Nucleus and Metaphase Chromosome. (indigo.ca)
  • Thus, patterns of gene duplication and retention, for at least a subset of Y-linked genes, may be a general rule of Y chromosome evolution. (genetics.org)
  • Students compare banding patterns on hominid (human and ape) chromosomes, and see striking evidence of their common ancestry. (indiana.edu)
  • The banding patterns seen on stained chromosomes from humans and chimpanzees are compared in detail, showing striking similarities. (indiana.edu)
  • 1. Chromosome banding patterns provide independent confirmation of relationship in hominids, in addition to anatomical, physiological, genetic, and molecular evidence. (indiana.edu)
  • 1. actively engage in the careful analysis of chromosome banding patterns. (indiana.edu)
  • Increased levels of lipid peroxides have also been linked to the pathogenesis of a variety of human diseases through cellular oxidative damage, including neurodegeneration, atherosclerosis, type II diabetes, metabolic disorders, solid tumors, and hematologic malignancies [ 3 , 10 - 12 ]. (hindawi.com)
  • Although IL-4 and IL-13 share receptor components and signaling pathways, differences in the expression of these receptors as well as their affinity for these ligands result in the two cytokines mediating distinct functions ( 10 - 12 ). (jimmunol.org)
  • The use of a good number of uniparental and biparental markers for genetic diversity studies is a recent trend in which Y-haplogroup, mitochondrial DNA (mtDNA), human leukocyte antigen (HLA) and killer-cell immunoglobulin-like receptor (KIR) are the promising ones. (frontiersin.org)
  • GR113808: a novel, selective antagonist with high affinity at the 5-HT4 receptor. (wikipedia.org)
  • Cecilie Löe Licht, Changes in the 5-HT 4 receptor in animal models of depression and antidepressant treatment , PhD thesis, Faculty of Health Sciences, University of Copenhagen. (wikipedia.org)
  • International Standing Committee on Human Cytogenetic Nomenclature (2013). (wikipedia.org)
  • ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013). (wikipedia.org)
  • These values (ISCN start/stop) are based on the length of bands/ideograms from the ISCN book, An International System for Human Cytogenetic Nomenclature (2013). (wikipedia.org)
  • Previous cytogenetic and molecular genetic analyses suggest that the q21 band of chromosome 13 harbors a tumor suppressor gene(s) involved in prostatic carcinogenesis. (aacrjournals.org)