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.

Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q. (1/181)

A severely mentally subnormal child with many physical stigmata was shown to have the karyotype 46,XY,-2,+der(2),t(2;10)(q31;q24)pat. Full evaluation of this patient's karyotype depended on the family studies. It was shown that a balanced translocation t(2,10) was present in 4 normal males in 3 generations.  (+info)

Gene dosage: evidence for assignment of erythrocyte acid phosphatase locus to chromosome 2. (2/181)

A child, trisomic for the distal short arm of chromosome 2 due to a familial 2/18 translocation, has elevated levels of activity of erythrocyte acid phosphatase [orthophosphoric-monoester phosphohydrolase (acid optimum), 3.1.3.2] Ferguson-Smith et al. [(1973) Nature New Biol. 243, 271-274] previously had found decreased levels of activity and loss of expression of an erythrocyte acid phosphatase allele in a subject who lacked one of the two homologous regions containing the distal three bands of chromosome 2. They suggested that the locus for erythrocyte acid phosphatase is located on that segment. Our findings provide further evidence for this assignment and also suggest an in vivo gene dosage effect of this autosomal locus, which depends on both the type and number of alleles present.  (+info)

Assignment of a locus required for flavoprotein-linked monooxygenase expression to human chromosome 2. (3/181)

Hybrid clones segregating human chromosomes were prepared by fusing mouse RAG cells to fresh human bone marrow cells and tested for the mixed-function oxygenase [flavoprotein-linked monooxygenase; RH, reduced-flavoprotein:oxygen oxidoreductase (RH-hydroxylating); EC 1.14.14.1] arylhydrocarbon hydrocarbon hydroxylase. Neither constitutive nor induced aryl hydrocarbon hydroxylase activity was detected in parental RAG cells. Induced aryl hydrocarbon hydroxylase was expressed in 4 out of 12 primary and 12 out of 19 secondary hybrid clones examined. Constitutive hydroxylase activity was detectable in 9 of the 15 inducible clones. All of the hybrid clones that exhibited constitutive hydroxylase activity were also inducible. There was a positive correlation between constitutive and induced hydroxylase activities although the absolute levels of the enzyme showed a wide range between different clones. Isozyme analysis performed on 12 primary and 19 secondary hybrid clones showed that aryl hydrocarbon hydroxylase activity was concordant with the expression of the human isozymes malate dehydrogenase (EC 1.1.1.37) and isocitrate dehydrogenase (EC 1.1.1.42), previously assigned to human chromosome 2. Isozyme markers for 19 other human chromosomes segregated independently from aryl hydrocarbon hydroxylase activity. The results suggest that the gene(s) required for aryl hydrocarbon hydroxylase activity are located on human chromosome 2.  (+info)

Loss of Rh antigen associated with acquired Rh antibodies and a chromosome translocation in a patient with myeloid metaplasia. (4/181)

Myeloid metaplasia is a clonal disease of the marrow pluripotent stem cell in which a constant cytogenetic abnormality could result in an altered antigenic characteristic of hematopoietic cells. A 57-yr-old man who had acquired myeloid metaplasia at age 37 was noted to be Rh negative, although blood typing at age 33 was Rh positive. His erythrocytes reacted with anti-c and anti-e, typical for an Rh negative individual. Analysis of 11 metaphase bone marrow cells by G-banding revealed 46 chromosomes with a consistent anomaly in 100% of cells involving chromosomes 1 and 13. The changes were consistent with a reciprocal translocation, with break points at approximately 1p32 and 13q22, although break points at 1p13 and 13q14 were also possible. Since previous cytogenetic data have localized the Rh gene to the short arm of chromosome 1, our data indicate the Rh gene lies within the segment u13 leads to 1p32. Serum of this patient had circulating anti-D and anti-C antibodies. Consequently, this patient lost immunologic tolerance to a "self antigen" after losing the ability to express this antigen.  (+info)

Fanconi's aplastic anaemia with short stature. Absence of response to human growth hormone. (5/181)

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)

Localization of human gene loci using spontaneous chromosome rearrangements in human-Chinese hamster somatic cell hybrids. (6/181)

Analysis of human-Chinese hamster somatic cell hybrids with spontaneously derived chromosome structural changes has provided data for the regional and subregional localization of gene loci which have previously been assigned to human chromosomes 2, 12, and X. Correlation of the expression of human gene loci with the human chromosome complements present in somatic cell hybrids indicates that the cytoplasmic malate dehydrogenase (MDH1) locus is in the 2p23yields2pter region, and red cell acid phosphatase (AcP1) is at or adjacent to 2p23. The cytoplasmic isocitrate dehydrogenase (IDH1) locus is at or adjacent to 2q11, peptidase B (Pep B) is at or adjacent to 12q21, lactate dehydrogenase B (LDH B) is in the 12q21yiedls12pter region, glucose-6-phosphate dehydrogenase (G6PD) is in the Xq24yieldsXqter region, and the gene loci for phosphoglycerate kinase (PGK), alpha-galactosidase (alpha-gal), and hypoxanthine guanine phosphoribosyltransferase (GPRT) are in the Xp21yieldsXq24 region.  (+info)

Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21). (7/181)

Close phenotypic similarity between two cases carrying a rec(3) dup q,inv(3) (p25q21), 12 additional infants from the same inv (3)(p25q21) kindred who lived less than 1 year, and eight cases studied in other medical centers has led us to postulate the existence of a distinct chromosome 3 duplication-deletion syndrome. In the presence of trisomy for (3)q21 leads to qter and monosomy for (3)p25 leads to pter, the facial dysmorphy is unique: a distorted head shape due to irregular cranial sutures, thick low eyebrows, long eyelashes, persistent lanugo, distended veins on the scalp, hypertelorism, oblique palpebral fissures, a very short nose with a broad depressed bridge and anteverted nares, protruding maxilla, thin upper lip, micrognathia, low-set ears, and a short webbed neck. Port-wine stains, congenital glaucoma, cloudy corneas, cleft palate and harelip also occur frequently. Each infant has difficulty sucking and swallowing. Congenital anomalies of the cardiovascular system, of midgut rotation, and of the urogenital system are noted for the infants who died neonatally. Most frequent is a ventricular septal defect, followed by atrial septal defect, patent ductus arteriosus, patent foramen ovale, and coarctation of the aorta. Omphalocele, umbilical hernia, hyperplastic kidneys, polycystic kidneys, double ureter, hydro-ureter, hydronephrosis, and undescended testes often occur. The extremities are short in proportion to the length of the trunk. Clinodactyly, coxa valga, talipes, and spina bifida are frequently observed.  (+info)

Spatial distribution of chromosomes 1 and Y in human spermatozoa. (8/181)

The positions of chromosomes 1 and Y inside human spermatozoa were determined by differential staining techniques. In 85/100 cells the two chromosomes were in close contact and in association with a vacuole. This observation is in contrast to previous findings for chromosome No. 9 and the Y-chromosome whose positions do not appear to be correlated.  (+info)

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Human transferrin receptor, molecular model. This molecule is found on the surface of a cell. It binds transferrins, iron-binding glycoproteins found in the blood plasma, and transports them into the cell. - Stock Image F009/6016
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TY - JOUR. T1 - Isolation of proliferating cells from whole blood using Human Transferrin Receptor in a two-stage separation system. AU - Wickramaratne, Bhagya. AU - Ivey, Mychele. AU - Pappas, Dimitri. N1 - Funding Information: This work was supported by grants from The CH Foundation and the Cancer Prevention and Research Institute of Texas ( RP 180862 ). Publisher Copyright: © 2019 Elsevier B.V.. PY - 2019/11/1. Y1 - 2019/11/1. N2 - Blood is a routinely tested biological fluid for diagnosis and monitoring of diseases as many diseases would trigger a change in white blood cell count. Thus, several methods have been established to isolate or enrich white blood cells from patient blood samples for such analyses. One method of preparing an enriched white blood cell sample is through the selective lysis of red blood cells by hypotonic shock and restoration of osmolarity to maintain viability of target white blood cells. An inherent problem with this approach is the loss of target cells during ...
Bordelon, M R., Malignant characteristics of somatic cell hybrids of normal human and malignant mouse cells. Abstr. (1974). Subject Strain Bibliography 1974. 446 ...
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Plant cells possess much of the molecular machinery necessary for receptor-mediated endocytosis (RME), but this process still awaits detailed characterization. In order to identify a reliable and well-characterized marker to investigate RME in plant cells, we have expressed the human transferrin rec …
1. Chen TR, et al. DLD-1 and HCT-15 cell lines derived separately from colorectal carcinomas have totally different chromosome changes but the same genetic origin. Cancer Genet. Cytogenet. 81: 103-108, 1995. ...
Treatments for Chromosome 4, partial trisomy distal 4q including drugs, prescription medications, alternative treatments, surgery, and lifestyle changes.
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TY - JOUR. T1 - Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error. T2 - Case report and review of the literature on partial trisomy 17qter. AU - Sarri, C.. AU - Gyftodimou, J.. AU - Avramopoulos, D.. AU - Grigoriadou, M.. AU - Pedersen, W.. AU - Pandelia, E.. AU - Pangalos, C.. AU - Abazis, D.. AU - Kitsos, G.. AU - Vassilopoulos, D.. AU - Brøndum-Nielsen, K.. AU - Petersen, M. B.. PY - 1997/5/2. Y1 - 1997/5/2. N2 - Partial trisomy 17q22-qter is a rare but well-recognized clinical entity. We present a case of partial trisomy for the long arm of chromosome 17, which was detected in a female infant with severe psychomotor and somatic retardation, Stargardt disease, short limbs, and numerous minor anomalies. Differential chromosomal staining demonstrated an excess of genetic material on the long arm of the late replicating X chromosome. FISH and DNA polymorphism analysis showed that the extra material belonged to ...
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The mouse orthologue maps to mouse chromosome 7.[27] In humans, the major POLD1 transcript (NM_002691.3) contains 27 exons and ... in human Homo sapiens Mus musculus Saccharomyces cerevisiae Schizosaccharomyces pombe A (catalytic) p125 POLD1-Chr 19q13.3 ... Figure 2: Conserved motifs in the exonuclease domain of human p125. Motifs I to III are conserved in the B-family of ... "European Journal of Human Genetics. doi:10.1038/ejhg.2015.252. PMC 5070903. PMID 26648449.. ...
... to human chromosome region 8q24.1". Genomics. 44 (1): 141-3. doi:10.1006/geno.1997.4825. PMID 9286711. Sharpe LJ, Brown AJ (Jun ... to human chromosome region 8q24.1". Genomics. 44 (1): 141-3. doi:10.1006/geno.1997.4825. PMID 9286711. Wiemann S, Arlt D, Huber ... In humans, squalene epoxidase is encoded by the SQLE gene. Squalene monooxygenase (SqMO) was formerly referred to as squalene ... Laden BP, Tang Y, Porter TD (Feb 2000). "Cloning, heterologous expression, and enzymological characterization of human squalene ...
This occurs when one X chromosome contains a segment of the Y chromosome, which was inserted into the X chromosome of the ... Reproductive system of the human male. This article is about the reproductive system in human males. For the male reproductive ... If this sperm cell contains an X chromosome it will coincide with the X chromosome of the ovum and a female child will develop ... They are found to be missing the same portion of the Y chromosome it was inserted into the chromosome of XX males. The gene for ...
Schmutz J, Martin J, Terry A, et al. (2004). «The DNA sequence and comparative analysis of human chromosome 5.». Nature 431 ( ... Xu M, Okada T, Sakai H, et al. (2002). «Functional human NAIP promoter transcription regulatory elements for the NAIP and ... Aubin D, Gagnon A, Grunder L, et al. (2004). «Adipogenic and antiapoptotic protein levels in human adipose stromal cells after ... Maier JK, Balabanian S, Coffill CR, et al. (2007). «Distribution of neuronal apoptosis inhibitory protein in human tissues.». J ...
"Distribution of genes for gap junction membrane channel proteins on human and mouse chromosomes". Somatic Cell and Molecular ... Kelsell, David P.; Dunlop, John; Hodgins, Malcolm B. (2001). "Human diseases: clues to cracking the connexin code?". Trends in ... Donahue, HJ; Li, Z; Zhou, Z; Yellowley, CE (February 2000). "Differentiation of human fetal osteoblastic cells and gap ... Reduction of gap junction-mediated metabolic cooperation with progressive subcultivation of human embryo fibroblasts (IMR-90 ...
Shiratori I., Yamaguchi M., Suzukawa M. et al. Down-regulation of basophil function by human CD200 and human herpesvirus-8 ... Douglas J., Albertson D.G., Barclay A.N. et al. RFLP and mapping of human MOX-1 gene on chromosome 3 (англ.) // Nucleic Acids ... Strausberg R.L., Feingold E.A., Grouse L.H. et al. Generation and initial analysis of more than 15,000 full-length human and ... McCaughan G.W., Clark M.J., Barclay A.N. Characterization of the human homolog of the rat MRC OX-2 membrane glycoprotein (англ ...
Genes on human chromosome 16. *Clusters of differentiation. Hidden categories: *All articles with unsourced statements ... Berx G, Becker KF, Höfler H, van Roy F (1998). "Mutations of the human E-cadherin (CDH1) gene". Human Mutation. 12 (4): 226-37 ... "American Journal of Human Genetics. 63 (6): 1588-93. doi:10.1086/302173. PMC 1377629. PMID 9837810.. ... Human CDH1 genome location and CDH1 gene details page in the UCSC Genome Browser. ...
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Barton DE, Kwon BS, Francke U (Jul 1988). "Human tyrosinase gene, mapped to chromosome 11 (q14----q21), defines second region ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. ... In humans, the tyrosinase enzyme is encoded by the TYR gene.[6] ... See Template:Leucine metabolism in humans - this diagram does ... Mammalian tyrosinase is a single membrane-spanning transmembrane protein.[12] In humans, tyrosinase is sorted into melanosomes[ ...
This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.. *v ... 1997). "Assignment of C1QBP encoding the C1q globular domain binding protein (gC1q-R) to human chromosome 17 band p13.3 by in ... Kobayashi M, Hanai R (2001). "M phase-specific association of human topoisomerase IIIbeta with chromosomes". Biochem. Biophys. ... 2001). "The human gC1qR/p32 gene, C1qBP. Genomic organization and promoter analysis". J. Biol. Chem. 276 (20): 17069-75. doi: ...
"Distribution of genes for gap junction membrane channel proteins on human and mouse chromosomes". Somatic Cell and Molecular ... Several human genetic disorders are associated with mutations in gap junction genes. Many of those affect the skin because this ... Kelsell, David P.; Dunlop, John; Hodgins, Malcolm B. (2001). "Human diseases: clues to cracking the connexin code?". Trends in ... Donahue, HJ; Li, Z; Zhou, Z; Yellowley, CE (February 2000). "Differentiation of human fetal osteoblastic cells and gap ...
We will explore chromosome specific cases in the chromosome specific section.. *Type of chromosome abnormality: The factor that ... "Human Molecular Genetics. 4 (Review Issue 1): 1757-64. PMID 8541876.. *. Los FJ, van Opstal D, van den Berg C, et al. (July ... Specific chromosomes: The influence of CPM on fetal growth is chromosome specific. Certain chromosomes carry imprinted genes ... "American Journal of Human Genetics. 63 (6): 1912-4. doi:10.1086/302149. PMC 1377663. PMID 9837845.. ...
... and 10 and human chromosome 19". Mammalian Genome. 6 (3): 212-3. doi:10.1007/BF00293017. PMID 7749232.. ... Jones JM, Popma SJ, Mizuta M, Seino S, Meisler MH (March 1995). "Synaptotagmin genes on mouse chromosomes 1, 7, ... "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs" ... "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173-8. doi:10.1038/ ...
"Regulation of the human hydroxysteroid sulfotransferase (SULT2A1) by RORα and RORγ and its potential relevance to human liver ... The ChAT gene is located on chromosome 10. Decreased expression of ChAT is one of the hallmarks of Alzheimer's disease. ... The Human Gene Compendium. Weizmann Institute of Science. Retrieved 2 December 2013. Moran, Lawrence. "Human ABO Gene". ... Lewis R (2008). Human genetics : concepts and applications (8th ed.). Boston: McGraw-Hill/Higher Education. p. 32. ISBN 978-0- ...
Libert F, Passage E, Lefort A, Vassart G, Mattei MG (1991). "Localization of human thyrotropin receptor gene to chromosome ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. ... Graves PN, Tomer Y, Davies TF (Sep 1992). "Cloning and sequencing of a 1.3 KB variant of human thyrotropin receptor mRNA ... Misrahi M, Loosfelt H, Atger M, Sar S, Guiochon-Mantel A, Milgrom E (Jan 1990). "Cloning, sequencing and expression of human ...
Human leukocyte antigen associations may even be at work. In fact, this linkage on chromosome 6 may be the most convincing and ... 10 (3): 239-254. doi:10.1093/ecco-jcc/jjv213. PMID 26614685.. *^ a b c d e f g h i j k l m n Feuerstein, JD; Moss, AC; Farraye ... doi:10.1016/s0140-6736(16)31012-1. PMC 5388903. PMID 27733281.. *^ a b c d e f g h Ford AC, Moayyedi P, Hanauer SB (February ... For example, chromosome band 1p36 is one such region thought to be linked to inflammatory bowel disease.[39] Some of the ...
Nuclear DNA in a human consists of 22 pairs of autosomes and two sex chromosomes. The 22 pairs of autosomes are derived half ... Evolution & Human Behavior 24: 99-112. Full text. *Knight, C. 2008. Early human kinship was matrilineal. In N. J. Allen, H. ... Early human kinship was matrilineal. In N. J. Allen, H. Callan, R. Dunbar and W. James (eds.), Early Human Kinship. Oxford: ... "Hierarchical patterns of global human Y-chromosome diversity". Mol Biol Evol. 18 (7): 1189-203. doi:10.1093/oxfordjournals. ...
1991). „Molecular cloning and expression of platelet-activating factor receptor from human leukocytes.". J. Biol. Chem. 266 (30 ... contains no introns and maps to chromosome 1". Genomics. 13 (3): 832-4. PMID 1322356. doi:10.1016/0888-7543(92)90162-L.. ... 1999). „Characterization of single-nucleotide polymorphisms in coding regions of human genes.". Nat. Genet. 22 (3): 231-8. PMID ... Chase PB, Halonen M, Regan JW (1993). „Cloning of a human platelet-activating factor receptor gene: evidence for an intron in ...
In humans, most mammals, and some other species, two of the chromosomes, called the X chromosome and Y chromosome, code for sex ... In humans, half of spermatozoons carry X chromosome and the other half Y chromosome.[3] A single gene (SRY) present on the Y ... In humans, the presence of the Y chromosome is responsible for triggering male development; in the absence of the Y chromosome ... Non-human mammals use several genes on the Y chromosome. Not all male-specific genes are located on the Y chromosome. Platypus ...
... map to mouse chromosome 5 within a region of conserved synteny with human chromosome 4p16.3". Genomics. 22 (1): 198-201. doi: ... 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 ...
2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805-11. doi:10.1038/nature02055. PMID ... 2002). "Human Dendritic Cells Activate Resting Natural Killer (NK) Cells and Are Recognized via the NKp30 Receptor by Activated ... Yu X, Weissman SM (2000). "Characterization of the promoter of human leukocyte-specific transcript 1. A small gene with a ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
... human (Homo sapiens). miR-181 may have a regulatory role with tumor suppressors genes of the human chromosome 1. It has been ... Human miR-181a1 and miR-181b1 are clustered together and located on the chromosome 1 (37.p5), miR-181a2 and miR-181b2 are ... miR-181c and miR-181d are activated by the human gene ERBB2, located on the chromosome 17. The expression of miR-181c is ... In humans, this microRNA is involved in the mechanisms of immunity, and in many different cancers (see below) it was found to ...
2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-71. doi:10.1038/414865a. ... is mapped to human chromosome 20p11.2 by in situ hybridization (ISH and FISH)". Genomics. 14 (3): 740-4. doi:10.1016/S0888-7543 ... Mutations in the human gene may contribute to the condition of Klippel-Feil syndrome, which is the failure of the vertebrae to ... PAX1 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) This article incorporates text from ...
"A high-resolution 6.0-megabase transcript map of the type 2 diabetes susceptibility region on human chromosome 20". Genomics. ... Paillard F (May 1999). "A novel soluble chimera for the treatment of familial hypercholesterolemia". Human Gene Therapy. 10 (7 ... Pind MT، Watson PH (May 2003). "SR protein expression and CD44 splicing pattern in human breast tumours". Breast Cancer ... Tran Q، Coleman TP، Roesser JR (January 2003). "Human transformer 2beta and SRp55 interact with a calcitonin-specific splice ...
... are found on chromosomes 22 and 2 in humans. One of these domains is called the variable domain, which is present in each heavy ... ISBN 0-534-42174-1.. *^ a b c d e f g h i j Charles Janeway (2001). Immunobiology (5th ed.). Garland Publishing. ISBN 0-8153- ... 10 (1): 60-72. PMID 8450761.. *^ a b c d e f g Maverakis E, Kim K, Shimoda M, Gershwin M, Patel F, Wilken R, Raychaudhuri S, ... Rho(D) immune globulin antibodies are specific for human RhD antigen.[67] Anti-RhD antibodies are administered as part of a ...
In the human genome, Myc is located on chromosome 8 and is believed to regulate expression of 15% of all genes[8] through ... Astrin SM, Laurence J (May 1992). "Human immunodeficiency virus activates c-myc and Epstein-Barr virus in human B lymphocytes ... Zhou C, Liu J (March 2003). "Inhibition of human telomerase reverse transcriptase gene expression by BRCA1 in human ovarian ... During the discovery of Myc gene, it was realized that chromosomes that reciprocally translocate to chromosome 8 contained ...
"The American Journal of Human Genetics. 74 (3): 564-571. doi:10.1086/382285. PMC 1182270 . PMID 14872410.. ... "Intracranial Aneurysms in Finnish Families: Confirmation of Linkage and Refinement of the Interval to Chromosome 19q13.3" ... ISBN 978-1-934115-01-5.. *^ a b c DiMaio, Vincent J.; DiMaio, Dominick (2001). Forensic pathology (2nd ed.). Boca Raton, FL [ ... ISBN 0-7216-0187-1.. *^ a b c Brisman, JL; Song, JK; Newell, DW (Aug 31, 2006). "Cerebral aneurysms". The New England Journal ...
Her works include Human Chromosomes: Structure, Behavior, Effects, a textbook on cytogenetics which is in its 4th edition. Her ... Therman, Eeva (1980). Human Chromosomes: Structure, Behavior, Effects. New York: Springer-Verlag New York. doi:10.1007/978-1- ... two rare and usually fatal genetic disorders caused by an extra copy of chromosome 13 and 18, respectively. ... multiple congenital anomalies caused by an extra chromosome". The Journal of Pediatrics. 57 (3): 338-345. doi:10.1016/S0022- ...
... and 10 and human chromosome 19". Mammalian Genome. 6 (3): 212-3. PMID 7749232. doi:10.1007/BF00293017. .mw-parser-output cite. ... Jones JM، Popma SJ، Mizuta M، Seino S، Meisler MH (March 1995). "Synaptotagmin genes on mouse chromosomes 1, 7, ... sensitivity to phagocytosis in human neutrophils". Biochimica et Biophysica Acta. 1590 (1-3): 159-66. PMID 12063179. doi: ... inositol 1,3,4,5 tetrakisphosphate binding. • clathrin binding. • syntaxin binding. • ربط بروتيني. • calcium-dependent ...
"X chromosome evidence for ancient human histories". Proceedings of the National Academy of Sciences svezak 96 (broj 6): str. ... In: The human revolution: behavioural and biological perspectives on the origins of modern humans. 1: str. 62.-108. ... Wolpoff, M. H. (1989.). "The place of Neanderthals in human evolution". In: The Emergence of Modern Humans: Biocultural ... 2006.). "A Geographically Explicit Genetic Model of Worldwide Human-Settlement History". American Journal of Human Genetics ...
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,每一個染色體皆含
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 ... BBC news, 3 March 2003 and BBC World Service 11 Nov, 2014, Atlantis Online, House of Commons Hansard debates 2 April, 1993. ... Cultivation seasons were marked by the rising and setting of certain stars, such as the Pleiades and Sirius.[3] ...
... 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 ... "MN1, a novel player in human AML". Blood Cells Mol. Dis. 39 (3): 336-9. doi:10.1016/j.bcmd.2007.06.009. PMC 2387274. PMID ...
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 ... 1]. [2]. CXCL10, hemokin (C-X-C motiv) ligand 10, ili IP-10[1] je mali citokin iz CXC hemokin familije koji je takođe poznat ... 61 (3): 246-57. PMID 9060447.. *. Neville LF, Mathiak G, Bagasra O (1998). „The immunobiology of interferon-gamma inducible ...
McLean PJ, Farb DH, Russek SJ (Aug 1995). "Mapping of the alpha 4 subunit gene (GABRA4) to human chromosome 4 defines an alpha ... Gamma-aminobutyric acid receptor subunit alpha-4 is a protein that in humans is encoded by the GABRA4 gene.[5][6] ... "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. ...
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] ... 104: 1-9.. *^ a b c d e f Bendich AJ (July 2004). "Circular ... The new cpDNA structures separate, creating daughter cpDNA chromosomes. In addition to the early microscopy experiments, this ... 978-1-4020-6570-5. .. *^ a b c d Lee DW, Lee S, Lee GJ, Lee KH, Kim S, Cheong GW, Hwang I (February 2006). "Functional ...
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). ... 1. −. ∑. i. =. 1. m. (. f. i. ). 2. {\displaystyle H_{e}=1-\sum \limits _{i=1}^{m}{(f_{i})^{2}}}. where m. {\displaystyle m}. ... A chromosome in a diploid organism is hemizygous when only one copy is present.[2] The cell or organism is called a hemizygote ...
Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene.[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 ... 6 (3): 303-324. doi:10.1007/BF00132234.. *^ Ayala, F. J. (2007). "Darwin's greatest discovery: design without designer". PNAS. ... 1 (1): 17. doi:10.1186/1745-6150-1-17.. *^ Furusawa, C.; Kaneko, K. (2000). "Origin of complexity in multicellular organisms". ... 3 (5): e75. doi:10.1371/journal.pgen.0030075. PMC 1868952. PMID 17511520.. CS1 maint: Multiple names: authors list (link) ...
During mammalian development, the gonads are at first capable of becoming either ovaries or testes.[5] In humans, starting at ... In males, certain Y chromosome genes, particularly SRY, control development of the male phenotype, including conversion of the ... Before the production of the pituitary hormone luteinizing hormone (LH) by the embryo starting at about weeks 11-12, human ... Häggström, Mikael; Richfield, David (2014). "Diagram of the pathways of human steroidogenesis". WikiJournal of Medicine. 1 (1 ...
... 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 ...
Human brains are surrounded by a system of connective tissue membranes called meninges that separate the brain from the skull. ... These tumors show a high frequency of co-deletions of the p and q arms of chromosome 1 and chromosome 19 respectively (1p19q co ... 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 ... A condition is considered X-linked if the gene that causes the disorder is located on the X chromosome (one of the two sex ... Random inactivation of one copy of the X chromosome in females mitigates the impact of possessing a mutant allele. Occasionally ...
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, ...
It is encoded in humans by the SERPINA1 gene. A protease inhibitor, it is also known as alpha1-proteinase inhibitor (A1PI) or ... The gene is located on the long arm of the fourteenth chromosome (14q32.1). Over 100 different variants of α1-antitrypsin have ... All three products showed minor differences compared to the normal human plasma A1AT, and are introduced during the specific ... This involves inhaling purified human A1AT into the lungs and trapping the A1AT into the lower respiratory tract. However, ...
"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 ... 87 (3): 469-478. doi:10.1037/0033-2909.87.3.469. PMID 7384341.. *^ a b c d e f Tadmouri GO, Nair P, Obeid T, Al Ali MT, Al ... Van Den Berghe, Pierre L (2010). "Human inbreeding avoidance: Culture in nature". Behavioral and Brain Sciences. 6: 91-102. doi ...
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). ...
In cells where whole copies of chromosome 22 were not identified, numerous fragments of this chromosome were retained and ... Additional FISH analysis using bacterial artificial chromosome probes spanning the length of chromosome 22 have allowed us to ... While cells from untreated gliomas often have over-representation of chromosome 7, chromosome 22 is typically under-represented ... Cells selected for BCNU resistance either in vivo or in vitro retain sequences mapped to chromosome 22. The specific over- ...
HUMAN for more molecular products just contact us ... Human ELISA Kit FOR Putative chromosome 1-amplified sequence 3 ... FBX11_HUMAN Human ELISA Kit FOR Putative chromosome 1-amplified sequence 3 Ask technical file . ... Product name : Human ELISA Kit FOR Putative chromosome 1-amplified sequence 3 ... Index / EIAab / Human ELISA Kit FOR Putative chromosome 1-amplified sequence 3 / Product Detail : FBX11_HUMAN Human ELISA Kit ...
A ring chromosome is denoted by the symbol r in human genetics and R in Drosophila genetics. Ring chromosomes may form in cells ... Although ring chromosomes are very rare, they have been found in all human chromosomes. Symptoms seen in patients carrying ring ... A ring chromosome is an aberrant chromosome whose ends have fused together to form a ring. Ring chromosomes were first ... "Orphanet: Ring chromosome 6 syndrome". www.orpha.net. "Orphanet: Ring chromosome 7 syndrome". www.orpha.net. "Ring chromosome 8 ...
Chromosome Location: chr1:39549890- 39951466 * Other Gene names: ABP620, ACF7, KIAA0465, KIAA1251 ... Microtubule-actin cross-linking factor 1, isoforms 1/2/3/5 - Q9UPN3 (MACF1_HUMAN) ...
Chromosome Location * chr19:2100986- 2151556 (-) (NM_001261826) * chr19:2100986- 2151556 (-) (NM_003938) ... AP-3 associates with the BLOC-1 complex (By similarity). Adaptor protein complex 3 (AP-3) is a heterotetramer composed of two ... Involved in process of CD8+ T-cell and NK cell degranulation (PubMed:26744459). In concert with the BLOC-1 complex, AP-3 is ... Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi ...
This human KCNJ16 was mapped to chromosome 17q25. The full-length cDNA was identified and its genomic structure was determined ... The human inward rectifier K(+) channel subunit kir5.1 (KCNJ16) maps to chromosome 17q25 and is expressed in kidney and ... Tissue distribution studies showed that human KCNJ16 is significantly expressed in human kidney, pancreas and thyroid gland. In ... These suggest that human Kir5.1 may be involved in the regulation of fluid and pH balance, thus making it a potential ...
Chromosome 20 is one of the 23 pairs of chromosomes in humans. Chromosome 20 spans around 63 million base pairs (the building ... "Chromosome 20: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 20: ... "Chromosome 20". Genetics Home Reference. Retrieved 2017-05-06. "Chromosome 20". Human Genome Project Information Archive 1990- ... Waardenburg syndrome G-banding ideograms of human chromosome 20 "Human Genome Assembly GRCh38 - Genome Reference Consortium". ...
... of cells had a rearrangement of chromosome 2 in the form of a ring, viz., r(2)(2p25.2 leads to 2 … ... Human chromosome 2 rod/ring mosaicism: probable origin by prezygotic breakage and intrachromosomal exchange Cytogenet Cell ... Differential selection against cells with the ring chromosome in blood and skin probably occurred during subsequent ... of cells had a rearrangement of chromosome 2 in the form of a ring, viz., r(2)(2p25.2 leads to 2q33.2). Both configurations ...
Human Y Chromosome Much Older Than Previously Thought. 03/21/2013 7:05:11 AM PDT · by Renfield · 15 replies UANews ^ , 3-1-2013 ... UA geneticists have discovered the oldest known genetic branch of the human Y chromosome the hereditary factor determining male ... branched from the Y chromosome tree before the first appearance of anatomically modern humans in the fossil record. The results ... Previous genetic research has indicated the existence of two ancient modern human individuals who passed their genes along to ...
... and human chromosome 2 represents a fusion of two acrocentric chromosomes present in chimpanzees (chromosomes 12 and 13) and ... Remarkably, the KA/KS ratios are also 1.41 times greater for rearranged chromosomes than for colinear chromosomes in humans ( ... Table 6 shows that genes in rearranged chromosomes 4, 5, and 9, as well as in colinear chromosome 22, have human expression ... The nuclear genome of the species is distributed in five large chromosome arms and one very small chromosome. The X chromosome ...
... human chromosome (en) 10. kromozom (tr); Chromosome 10 (human), Chromosome 10 (tl); chr10, kromosom 10 (nn); chr10 (nb); ... Media in category "Human chromosome 10". The following 30 files are in this category, out of 30 total. ... Human chromosome 10 with ASD genes from IJMS-16-06464.png 606 × 1,510; 183 KB. ... Human chromosome 10 from Gene Gateway - with label.png 1,439 × 1,654; 102 KB. ...
... GenEZ™ ORF cDNA clones makes it easy to order ... like human or rat) or taxon id (like 9606). ... Homo sapiens (human). Browse by Letter Index, Pathway. ... ORF cDNA Clones and Custom Clones » Species Summary » Homo sapiens » chromosome: 3 » Map Location: 3q28-q29 ...
Chromosome 20 spans about 63 million DNA building blocks (base pairs) and represents approximately 2 percent of the total DNA ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 20, one copy inherited from ... Ring chromosome 20 syndrome is caused by a chromosomal abnormality known as a ring chromosome 20 or r(20). A ring chromosome is ... Gilbert F. Disease genes and chromosomes: disease maps of the human genome. Genet Test. 1997-1998;1(3):225-9. Citation on ...
The Ratio of Number of Chromosomes in a Human Zygote and a Human Sperm is : (A) 2 : 1 (B) 3 : 1 (C) 1 : 2 (D) 1 : 3 Concept: ... The number of chromosomes in a human sperm is half the number of chromosomes in a zygote, i.e., their ratio is 2 : 1. ... The ratio of number of chromosomes in a human zygote and a human sperm is :. (a) 2 : 1. (b) 3 : 1. (c) 1 : 2. (d) 1 : 3 ... The Ratio of Number of Chromosomes in a Human Zygote and a Human Sperm is : (A) 2 : 1 (B) 3 : 1 (C) 1 : 2 (D) 1 : 3 - Science. ...
... and GPR73 on human chromosome 2p14. Interspecific mouse backcross mapping has localised the genes to mouse chromosomes 9 and 6 ... Non-isotopic in situ hybridisation and radiation hybrid mapping have identified GPR72 to be localised on human chromosome ... one from human, GPR72, and one from mouse, GPR73 have been isolated, sequenced and their genomic organisation determined. ... and GPR73 on human chromosome 2p14. Interspecific mouse backcross mapping has localised the genes to mouse chromosomes 9 and 6 ...
Foresta C, Ferlin A, Moro E (2000a) Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major ... A Rare Y Chromosome Missense Mutation in Exon 25 of Human USP9Y Revealed by Pyrosequencing. ... High mutation rates have driven extensive structural polymorphism among human Y chromosomes. Nat Genet 38(4):463-467PubMed ... Protein structure prediction for the male-specific region of the human Y chromosome. Proc Natl Acad Sci USA 101(8):2305-2310 ...
Chromosome 1 is the largest human chromosome, spanning about 249 million DNA building blocks (base pairs) and representing ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 1, one copy inherited from ... Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a ... Murphy WJ, Frönicke L, OBrien SJ, Stanyon R. The origin of human chromosome 1 and its homologs in placental mammals. Genome ...
Identical Allelic Loss on Chromosome 11q13 in Microdissected in Situ and Invasive Human Breast Cancer. Zhengping Zhuang, Maria ... Identical Allelic Loss on Chromosome 11q13 in Microdissected in Situ and Invasive Human Breast Cancer ... Identical Allelic Loss on Chromosome 11q13 in Microdissected in Situ and Invasive Human Breast Cancer ... Identical Allelic Loss on Chromosome 11q13 in Microdissected in Situ and Invasive Human Breast Cancer ...
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. ...
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification. ... "Chromosomes, Human, Pair 3" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... A QTL on chromosome 3q23 influences processing speed in humans. Genes Brain Behav. 2019 04; 18(4):e12530. ... This graph shows the total number of publications written about "Chromosomes, Human, Pair 3" by people in Harvard Catalyst ...
A human histone H2B.1 Variant gene, located on chromosome 1, utilizes alternative 3′ end processing. Journal of Cellular ... Abstract a variant human H2B histone gene (GL 105), previously shown to encode a 2300 nt replication independent mRNA, has been ... A human histone H2B.1 Variant gene, located on chromosome 1, utilizes alternative 3′ end processing. / Collart, David; ... The H2B‐GL105 histone gene was localized to chromosome region 1q21‐1q23 by chromosomal in situ hybridization and by analysis of ...
Assignment of the human a 1,3-fucosyltransferase IX gene (FUT9) to chromosome band 6q16 by in situ hybridization. / Kaneko, ... Assignment of the human a 1,3-fucosyltransferase IX gene (FUT9) to chromosome band 6q16 by in situ hybridization. Cytogenetics ... Assignment of the human a 1,3-fucosyltransferase IX gene (FUT9) to chromosome band 6q16 by in situ hybridization. In: ... Kaneko, M, Kudo, T, Iwasaki, H, Shiina, T, Inoko, H, Kozaki, T, Saitou, N & Narimatsu, H 1999, Assignment of the human a 1,3- ...
Chromosome 16 ... Human Gene Nomenclature Database. More...HGNCi. HGNC:13352 ... MAP1LC3B human. Gene expression databases. Bgeei. ENSG00000140941 Expressed in 235 organ(s), highest expression level in ... H3BTL1_HUMAN. ,p>This subsection of the Entry information section provides one or more accession number(s). These are stable ... tr,H3BTL1,H3BTL1_HUMAN Microtubule-associated protein 1 light chain 3 beta, isoform CRA_f OS=Homo sapiens OX=9606 GN=MAP1LC3B ...
Chromosome 15 ... Human Gene Nomenclature Database. More...HGNCi. HGNC:4205, ... H0YNA3_HUMAN. ,p>This subsection of the Entry information section provides one or more accession number(s). These are stable ... tr,H0YNA3,H0YNA3_HUMAN Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 3 (Fragment) OS= ... ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data ...
Banding in human chromosomes treated with trypsin. Nature New Biol. 235: 52-53, 1972.PubMedCrossRefGoogle Scholar ... Specific banding patterns of human chromosomes. Proc. Natl. Acad. Sci. U.S. 68: 2073-2077, 1971.CrossRefGoogle Scholar ... Squirrel Monkey Acrocentric Chromosome Pericentric Inversion Constitutive Heterochromatin Metacentric Chromosome This is a ... The chromosomes of some Platyrrhini (Callicebus, Ateles and Saimiri). Folia Primatol. 11: 17-27, 1969.PubMedCrossRefGoogle ...
Touch is the sense that more than any other is fundamental to human bonding and health. A French study found that when a ... Beyond the Philadelphia Chromosome. Speaker: Dr. Arline Cohn. This years talk will describe the discovery of the Philadelphia ... Lyceum Society: Beyond the Philadelphia Chromosome. Monday, May 5, 2014. The New York Academy of Sciences ... Chromosome, the development of a treatment for the disease that it caused, (chronic myeloid leukemia), how that led to a better ...
We report several different mutations of the gene (AGPAT2) encoding 1-acylglycer … ... AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34 Nat Genet. 2002 May;31(1):21-3. doi: ... Anil K Agarwal 1 , Elif Arioglu, Salome De Almeida, Nurullah Akkoc, Simeon I Taylor, Anne M Bowcock, Robert I Barnes, Abhimanyu ... phosphate O-acyltransferase 2 in 20 affected individuals from 11 pedigrees of diverse ethnicities showing linkage to chromosome ...
... among which a human ortholog with a HUGO symbol for 4002 genes was determined. The raw and normalized microarray data were ... Detection on chromosomes 1, 3, 5 and 7 of QTL for AF trait using a single trait or multi-trait model. The multi-trait model ... Genotyping for chromosomes 1, 3, 5 and 7 was performed for 11, 7, 10 and 5 markers, respectively (Additional Files 4 and 5). ... 2 Chromosome-wide significance levels (* = P , 0.05; *** = P , 0.001). 3 Location of 95% CI in cM according to drop off method ...
If the human genome is indeed the book of ...In a report in todays issue of the journal Nature a host of genom... Large ... X-chromosome,tells,the,tale,biological,biology news articles,biology news today,latest biology news,current biology news, ... numbers of medically related genes happen to fall on the ...The fact that men have just one copy of the X chromosome makes t... ... HOUSTON (March 17, 2005) If the human genome is indeed the "book of life," then the X-chromosome is all plot. In a report in ...
  • 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 ). (wikidoc.org)
  • HOUSTON (March 17, 2005) If the human genome is indeed the "book of life," then the X-chromosome is all plot. (bio-medicine.org)
  • Large numbers of medically related genes happen to fall on the X," said Dr. Steven Scherer, associate professor in the Baylor College of Medicine department of molecular and human genetics and director of mapping in the BCM Human Genome Sequencing Center. (bio-medicine.org)
  • Although it contains a few important genes, it's almost like the appendix of the human genome. (bio-medicine.org)
  • Several genome-wide screens have revealed susceptibility loci for IBD on 10 different chromosomes. (pnas.org)
  • While the human genome sequence has transformed our understanding of human biology, it isn't just the sequence of your DNA that matters, but also how you use it! (coursera.org)
  • It was the last completed chromosome, sequenced two decades after the beginning of the Human Genome Project . (wikipedia.org)
  • Single-cell genome analyses reveal the amount of mutations a human brain cell will collect from its fetal beginnings until death. (the-scientist.com)
  • 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)
  • Mitotic chromosome malsegregation produces aneuploidy and genome instability. (biologists.org)
  • This paper compares corresponding non-MHC genomic regions identified in rodent and human genome-wide association studies (GWAS). (hindawi.com)
  • Animal studies may help to fill the gaps in human genome-wide association studies (GWAS) by allowing for gene mapping and functional studies, which cannot be performed in human patients and may yield greater insights into the mechanisms of autoimmune T and B cell responses in RA [ 2 - 4 ]. (hindawi.com)
  • One of the main deficiencies with the original chimpanzee genome sequence published in 20053 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. (freerepublic.com)
  • In the case of a chimpanzee, an organism with a genome size of about 3 billion bases, a 3.6-fold coverage means that approximately 10.8 billion bases of DNA were sequenced (3.6 x 3.0). (freerepublic.com)
  • In the 2005 chimpanzee genome project and resulting Nature journal publication, the sequence contigs4 were not assembled and oriented based on a map of the chimpanzee genome, but rather on a map of the human genome. (freerepublic.com)
  • Given the fact that the chimpanzee genome is at least 10 percent larger5 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. (freerepublic.com)
  • Gompels UA , Nicholas J , Lawrence G , Jones M , Thomson BJ , Martin ME , The DNA sequence of human herpesvirus-6: structure, coding content, and genome evolution. (cdc.gov)
  • Nucleotide sequence analysis of a 38.5-kilobase-pair region of the genome of human herpesvirus 6 encoding human cytomegalovirus immediate-early gene homologs and transactivating functions. (cdc.gov)
  • 1] "Genome sequence of the human malaria parasite Plasmodium falciparum. (tcdb.org)
  • Human Genome Sciences and Xencor Announce Antibody Col... ( ROCKVILLE Md. and MONROVIA Calif. (bio-medicine.org)
  • We look forward to working with Human Genome Sciences to create novel, best-in-class biotherapeutics that are more effective in treating unmet medical needs while we continue to advance our internal pipeline of XmAb antibody candidates. (bio-medicine.org)
  • Human Genome Sciences Announces Pricing of Public Offering of Co... ( ROCKVILLE Md. July 28 /- Human. (bio-medicine.org)
  • ROCKVILLE Md. July 28 /- Human Genome Scienc. (bio-medicine.org)
  • This announcement shall not constitute an offer to sell or the solicitation of an offer to buy any securities of Human Genome Sciences, Inc., nor shall there be any sale of securities in any state or jurisdiction in which such an offer, solicitation or sale would be unlawful prior to registration or qualification under the securities laws of any such state or jurisdiction. (bio-medicine.org)
  • Human Genome Sciences is a commercially focused biopharmaceutical company. (bio-medicine.org)
  • The forward-looking statements are based on Human Genome Sciences' current intent, belief and expectations. (bio-medicine.org)
  • Human Genome Sciences undertakes no obligation to update or revise the information contained in this announcement whether as a result of new information, future events or circumstances or otherwise. (bio-medicine.org)
  • SOURCE Human Genome Sciences, Inc. (bio-medicine.org)
  • Europe's most powerful supercomputer , MareNostrum , will be used in human genome research, protein research, weather forecasting and the design of new drugs? (thefullwiki.org)
  • The human genome is the genome of Homo sapiens , which is stored on 23 chromosome pairs. (thefullwiki.org)
  • The haploid human genome occupies a total of just over 3 billion DNA base pairs . (thefullwiki.org)
  • The Human Genome Project (HGP) produced a reference sequence of the euchromatic human genome, which is used worldwide in biomedical sciences . (thefullwiki.org)
  • The haploid human genome contains ca. 23,000 protein-coding genes , far fewer than had been expected before its sequencing. (thefullwiki.org)
  • The estimate of the number of human genes has been repeatedly revised down from initial predictions of 100,000 or more as genome sequence quality and gene finding methods have improved. (thefullwiki.org)
  • In addition to protein coding genes, the human genome contains thousands of RNA genes , including tRNA , ribosomal RNA, microRNA , and other non-coding RNA genes. (thefullwiki.org)
  • The human genome has many different regulatory sequences which are crucial to controlling gene expression . (thefullwiki.org)
  • Protein-coding sequences (specifically, coding exons ) comprise less than 1.5% of the human genome. (thefullwiki.org)
  • [ 4 ] Aside from genes and known regulatory sequences, the human genome contains vast regions of DNA the function of which, if any, remains unknown. (thefullwiki.org)
  • These regions in fact comprise the vast majority, by some estimates 97%, of the human genome size . (thefullwiki.org)
  • Here, we describe iFISH, an open-source repository currently comprising 380 DNA FISH probes targeting multiple loci on the human autosomes and chromosome X, as well as a genome-wide database of optimally designed oligonucleotides and a freely accessible web interface ( http://ifish4u.org ) that can be used to design DNA FISH probes. (nature.com)
  • In the past decade, DNA FISH techniques have become increasingly popular among genome biologists, thanks to the fact that they enable direct observation of the three-dimentional (3D) genome architecture in a manner that is complementary to chromosome conformation capture methods, such as Hi-C 1 . (nature.com)
  • The human genome consists of two copies of each of 23 chromosomes (a total of 46). (wikipedia.org)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 20. (medlineplus.gov)
  • Ring chromosome 20 syndrome is caused by a chromosomal abnormality known as a ring chromosome 20 or r(20). (medlineplus.gov)
  • 1q21.1 microdeletion is a chromosomal change in which a small piece of the long (q) arm of chromosome 1 is deleted in each cell. (medlineplus.gov)
  • The H2B‐GL105 histone gene was localized to chromosome region 1q21‐1q23 by chromosomal in situ hybridization and by analysis of rodent‐human somatic cell hybrids using an H2B‐GL105 specific probe. (elsevier.com)
  • Presence of a ring chromosome either as part of a complex karyotype or as a sole chromosomal aberration is always in an unbalanced state. (atlasgeneticsoncology.org)
  • The potential of NPG di-2-ethylhexanoate (2,2-dimethylpropane-1,3-diyl 2-ethylhexanoate) to induce chromosomal damage in mammalian cells was evaluated in an in vitro mammalian chromosome aberration test performed according to GLP and OECD guideline 473, and EU method B.10 (Buskens, 2010). (europa.eu)
  • The genetic defect responsible for NF2 is a deletion of a portion of chromosome 22, the same chromosomal abnormality found in spontaneous spinal schwannomas, indicating that a single location causes Schwann cell tumor growth. (medscape.com)
  • 1 These chromosomal anomalies influence the molecular and cellular phenotype of the leukemic blasts and may be responsible for their malignant potential. (bloodjournal.org)
  • The frequency of various chromosomal abnormalities is quite different in neonates (0.7%) as compared to abortuses (about 50%), since some aneuploidies are lethal in utero [3]. (who.int)
  • What is the chromosomal make-up of humans? (brainscape.com)
  • We showed that HD-FISH probes can be used to localize individual genomic loci at sub-diffraction limit resolution, as well as to visualize chromosomal territories as discrete clouds of fluorescence spots-an approach which we named 'chromosome spotting' 2 , that allows to quantitatively assess various structural properties of chromosomes. (nature.com)
  • At the same time, another group reported Oligopaint FISH 3 , a versatile method to produce DNA FISH oligo probes, named Oligopaints, which can be used to visualize entire chromosomes or sub-chromosomal regions. (nature.com)
  • 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)
  • Rat chromosome 1 was one of the first chromosomes shown by cosegregation analysis to harbor a quantitative trait locus (QTL) regulating blood pressure (BP) and contributing to hypertension in several genetically hypertensive rat strains. (ahajournals.org)
  • In Experiment 1, L5178Y TK +/- 3.7.2c mouse lymphoma cells (heterozygous at the thymidine kinase locus) were treated with the test item at six dose levels, in duplicate, together with vehicle (solvent) and positive controls using 4-hour exposure groups both in the absence and presence of metabolic activation (2% S9 final concentration). (europa.eu)
  • Concurrent human genetic studies to identify one of two loci for primary congenital glaucoma (PCG) led to the mapping of the PCG locus GCL3A to human chromosome 2 at the 2p21 region. (cdc.gov)
  • Karyotypic analyses were done to demonstrate the genetic makeup of these cells, and fluorescent in situ hybridization analyses have defined the region(s) of chromosome 22 retained in these BCNU-resistant cells. (biomedcentral.com)
  • Fluorescent in situ hybridization analyses using whole chromosome paints confirmed this finding. (biomedcentral.com)
  • The hybrid panel includes 11 cell lines, which were characterized by Southern blot hybridization with chromosome 8-specific probes of known map location and by fluorescent in situ hybridization with a probe derived from a chromosome 8 library. (semanticscholar.org)
  • Assignment of the human adipocyte fatty acid-binding protein gene (FABP4) to chromosome 8q21 using somatic cell hybrid and fluorescence in situ hybridization techniques. (semanticscholar.org)
  • By using in situ hybridization with alphoid probes to chromosome 7 and 11 we showed that loss of a single sister is much more frequent than loss of both sisters from the same chromosome in anatelophases from human primary fibroblasts released from a nocodazole-induced mitotic arrest, as predicted from merotelic orientation of single kinetochores. (biologists.org)
  • Other molecular cytogenetics technics : Fluorescence in situ hybridization (FISH) using SKYPaint® Probe from Applied Spectral Imaging (Israel), was performed on metaphase chromosomes from cultured Bone marrow sample of this patient and analysed using GenASIs Spectral Karyotyping (HiSKY®) software. (atlasgeneticsoncology.org)
  • One of the ways speciation succeeds is blocking hybridization: humans have 46 chromosomes (23 pairs) the other great apes have 48 (24 pairs). (physicsforums.com)
  • Human cytochrome P450 1B1 (CYP1B1) was first isolated by differential hybridization as a 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD)-responsive cDNA clone from a human keratinocyte cell line treated with TCDD. (cdc.gov)
  • The results are published in the American Journal of Human Genetics. (freerepublic.com)
  • Cytogenetics and Cell Genetics , 86 (3-4), 329-330. (elsevier.com)
  • Volume 1, Cell Biology and Genetics, Enhanced Homework Edition (with Cover Sheet, Audio Book PAC, Essential Study Skills, and BiologyNOW -Personal Tutor with SMARTHINKING, InfoTrac 2-Sem. (ecampus.com)
  • Annual Review of Genomics and Human Genetics 9: 71-86. (els.net)
  • Current Protocols in Human Genetics. (els.net)
  • This fourth edition of the best-selling textbook, Human Genetics and Genomics , clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. (wiley.com)
  • A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. (wiley.com)
  • Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today's genetics teaching, and includes updated discussion of genetic risk assessment, "single gene" disorders and therapeutics. (wiley.com)
  • The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline. (wiley.com)
  • The perfect companion to the genetics component of both PBL and Integrated medical courses, Human Genetics and Genomics 4e, presents the perfect balance between the bio molecular basics of genetics and clinical cases and snapshots, and is fully supported with online supplements. (wiley.com)
  • They were selected from the outpatient clinic of the Human Genetics Department, Medical Research Institute, Alexandria University. (who.int)
  • Kathy Gordy Human Genetics Dr. Usher Homework #2 1. (coursehero.com)
  • 1. Chapter 1 Understanding genetics Modern science and medicine have taught us that genetics dictate every portion of our lives in the sense of health and what we can expect in wellness or disease. (slideshare.net)
  • Two novel G-protein-coupled receptors, one from human, GPR72, and one from mouse, GPR73 have been isolated, sequenced and their genomic organisation determined. (garvan.org.au)
  • Defects in chromosome segregation play a critical role in producing genomic instability and aneuploidy, which are associated with congenital diseases and carcinogenesis. (biologists.org)
  • Genomic analysis of the human B-lymphotropic virus (HBLV). (cdc.gov)
  • Comparative Cytogenetic Analysis Of Dog And Human Choroid Plexus Tumors Defines Syntenic Regions Of Genomic Loss. (biodiscovery.com)
  • Initial characterization of the human CYP1B1 gene described the DNA sequence of a 12-kb genomic clone corresponding to the entire 5.1-kb CYP1B1 cDNA and containing 3.0 kb of upstream DNA. (cdc.gov)
  • Comparison of the human CYPIB 1 genomic and cDNA sequences, obtained independently from two cell lines derived from different individuals, revealed three sequence differences, including an amino acid change at valine-432. (cdc.gov)
  • 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)
  • Another comparative genomic approach to locating regulatory sequences in humans is the gene sequencing of the puffer fish . (thefullwiki.org)
  • The representation of the systematically arranged chromosomes of a cell is called the karyotype of the cell (Figs. 3 and 4). (springer.com)
  • In this sense the expression "human karyotype" is used here. (springer.com)
  • Schwarzacher H.G. (1976) The Human Karyotype. (springer.com)
  • Figure 2: GTG banded karyotype showing Ring chromosome 8. (atlasgeneticsoncology.org)
  • A) A partial karyotype of G-banded chromosomes 1, 8, and 10 from EBV-LEUK1 cells. (bloodjournal.org)
  • Adaptor protein complex 3 (AP-3) is a heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta-type subunit AP3B1 or AP3B2 ), a medium adaptin (mu-type subunit AP3M1 or AP3M2 ) and a small adaptin (sigma-type subunit APS1 or AP3S2 ) (By similarity). (rcsb.org)
  • Ubiquitin-specific protease 9, Y-linked (USP9Y), is a protein encoded by the Y chromosome. (springer.com)
  • Ginalski K, Rychlewski L, Baker D, Grishin NV (2004) Protein structure prediction for the male-specific region of the human Y chromosome. (springer.com)
  • So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (wikidoc.org)
  • As compared to the wild-type allele ( Se , A1 allele in this study), seven base differences were observed within the 1-kb DNA fragment encompassing the protein coding region in the se 428 allele (see Figure 1 ). (genetics.org)
  • A schematic of the splice variants and their PPAR- protein start codons (ATG) can be seen in Figure 1 . (hindawi.com)
  • When 1,25(OH) 2 D 3 , also known as calcitriol, binds to VDR protein, VDR is stabilized and translocates to nuclei. (lww.com)
  • POU5F1 (POU Class 5 Homeobox 1) is a Protein Coding gene. (genecards.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 human caspase-3 gene encodes a cytoplasmic protein that is highly expressed in lung, spleen, heart, liver, kidney and cells of the immune system. (scbt.com)
  • 1) FMF leads indirectly to overproduction of another protein that is prone to amyloid formation. (mad-cow.org)
  • Mucin 3 Antibody (M3.1) is a high quality monoclonal Mucin 3 antibody (also designated mucin 3A, cell surface associated antibody or MUC3A antibody) suitable for the detection of the Mucin 3 protein of human origin. (scbt.com)
  • We demonstrate that the inversion creates a fusion between the 5′ end of MOZ mRNA and the 3′ end of TIF2 mRNA maintaining the translational frame of the protein. (bloodjournal.org)
  • Mammalian telomeres are specialized structures that protect eukaryotic chromosome ends from DNA repair reactions, owing to a lariat conformation and the presence of a six-subunit protein complex, called shelterin ( 1 ). (sciencemag.org)
  • Kanabinoidni receptor tip 1 ( CB 1 ) je G protein spregnuti kanabinoidni receptor . (wikipedia.org)
  • CB 1 receptor ima zajedničke strukturne karakteristike svih G protein spregnutih receptora. (wikipedia.org)
  • [1] Ovi receptori mogu da postoje kao homodimeri , heterodimeri ili oligomeri kad su koizraženi sa jednom ili više klasa G protein spregnutih receptora. (wikipedia.org)
  • There are estimated ca. 23,000 human protein-coding genes . (thefullwiki.org)
  • Homeobox protein Hox-D8 is a protein that in humans is encoded by the HOXD8 gene. (wikipedia.org)
  • HOXD8+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) This article incorporates text from the United States National Library of Medicine, which is in the public domain. (wikipedia.org)
  • Although a presumed case of NF2 was first described in 1882 by Wishart, the disease was not separated from von Recklinghausen disease until 1987, when it was demonstrated that the 2 disorders arose from different chromosomes. (medscape.com)
  • Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. (wikipedia.org)
  • The specific over-representation of sequences mapped to 22q12.3-13.32 suggest the presence of a DNA sequence important to BCNU survival and/or resistance located in this region of chromosome 22. (biomedcentral.com)
  • During handling and transportation of the Human ELISA Kit FOR Putative chromosome 1-amplified sequence 3 some of the liquid components are possible to stick on the walls and to the lids of the vials. (antibody-antibodies.com)
  • The speciation model of suppressed recombination has recently been tested by gene and DNA sequence comparisons between humans and chimpanzees, between Drosophila species, and between species related to Anopheles gambiae , the vector of malignant malaria in Africa. (pnas.org)
  • Telomeres are distinctive structures which are found at the end of our chromosomes, made up of a short, repeating sequence of DNA bases. (abpischools.org.uk)
  • CC Homo sapiens chromosome 3 GRCh37 sequence 1. (univ-lyon1.fr)
  • Stamps AC, Elmore MA, Hill ME, Kelly K, Makda AA, Finnen MJ: A human cDNA sequence with homology to non-mammalian lysophosphatidic acid acyltransferases. (hmdb.ca)
  • 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. (freerepublic.com)
  • 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. (freerepublic.com)
  • 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. (freerepublic.com)
  • On the human Y chromosome, there were found four major categories of DNA sequence that occupy specific regions. (freerepublic.com)
  • Just as a continent like Europe is divided into countries because of different people groups, so are chromosomes with different categories of DNA sequence. (freerepublic.com)
  • 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. (freerepublic.com)
  • Nicholas J . Determination and analysis of the complete nucleotide sequence of human herpesvirus 7. (cdc.gov)
  • The DNA sequence of the RK strain of human herpesvirus 7. (cdc.gov)
  • The goal of this study was to determine the prevalence of sequence variants in the class I β- tubulin (clone m40) gene and their occurrence in human tumors and cancer cell lines. (aacrjournals.org)
  • While the simultaneous creation of these new features in one step seems impossible, their step-by-step acquisition via selection of separate mutations seems highly problematic, given that the entire sequence is required for reliable production of haploid chromosome sets. (genetics.org)
  • 2] "Sequence of Plasmodium falciparum chromosomes 1, 3-9 and 13. (tcdb.org)
  • The XmAb(TM) Fv technology generates high-quality human sequence diversity in antibody variable domains in order to improve affinity, stability and production yield. (bio-medicine.org)
  • Analysis of the complete cDNA sequence of this mRNA identified a new gene subfamily of cytochrome P450, CYP1B 1, based on 40% sequence homology to other polycyclic aromatic hydrocarbon (PAH)-inducible isoforms, CYP1A1 and CYP1A2. (cdc.gov)
  • Spiegelberg BD, Xiong JP, Smith JJ, Gu RF, York JD: Cloning and characterization of a mammalian lithium-sensitive bisphosphate 3'-nucleotidase inhibited by inositol 1,4-bisphosphate. (hmdb.ca)
  • Thus, NPG di-2-ethylhexanoate (2,2-dimethylpropane-1,3-diyl 2-ethylhexanoate) did not induce chromosome aberration in mammalian cells. (europa.eu)
  • Another in vitro mammalian chromosome aberration test is available were (2,2-dimethylpropane-1,3-diyl 2-ethylhexanoate) was tested in human lymphocytes which were treated with 25, 75 and 150 µg/mL with and without metabolic activation by a S9-mix (Fox, 1995). (europa.eu)
  • Mutagenicity in mammalian cells induced by NPG di-2-ethylhexanoate (2,2-dimethylpropane-1,3-diyl 2-ethylhexanoate) was assessed in an in vitro mammalian cell gene mutation assay, where mouse lymphoma L5178Y cells were analyzed in accordance with GLP and OECD guideline 476 and EU method B.17 (Verbaan, 2010). (europa.eu)
  • Cdcs1 interacted epistatically or contributed additively with loci on other chromosomes. (pnas.org)
  • The complex nature of interactions among loci in this mouse model system, coupled with separate deleterious contributions from both parental strains, illustrates why detection of human inflammatory bowel disease linkages has proven to be so difficult. (pnas.org)
  • To date, over 30 non-MHC RA-associated loci have been identified in humans, and over 100 arthritis-associated loci have been identified in rodent models of RA. (hindawi.com)
  • The findings strongly indicate that there are at least 2 quantitative trait loci (QTLs) affecting BP in this region of rat chromosome 1. (ahajournals.org)
  • We identified loci on zebrafish chromosomes 5 (LOD score 7.9) and 16 (LOD score 9.3) governing sex determination as a complex trait, rather than as an XY or ZW genetic system. (g3journal.org)
  • CSE1L participates in regulating cell mitosis in human seminoma. (nih.gov)
  • We recently provided evidence from immunofluorescence and electron microscopy studies that merotelic kinetochore orientation is a major mechanism for lagging chromosomes during mitosis in PtK1 cells. (biologists.org)
  • Hence, the activation of the mitotic checkpoint prevents the unbalanced distribution of chromosomes during mitosis and the production of aneuploid cells. (biologists.org)
  • While meiosis almost certainly evolved from mitosis, it has not one but four novel steps: the pairing of homologous chromosomes, the occurrence of extensive recombination between non-sister chromatids during pairing, the suppression of sister-chromatid separation during the first meiotic division, and the absence of chromosome replication during the second meiotic division. (genetics.org)
  • In the evolution of the eukaryotes, it can be assumed that the earliest eukaryotic species were single-cell haploid forms, possessing just a single set of chromosomes, and that they propagated by mitosis. (genetics.org)
  • Various proteins act to stabilize DNA in interphase, while additional proteins are required to condense the chromosomes over a thousandfold to form the compact chromosomes required for mitosis and cell division. (encyclopedia.com)
  • During mitosis, DNA is packaged into chromosomes. (brainscape.com)
  • This is because it uses many epigenetic mechanisms, at many levels, to achieve really stable silencing of a whole chromosome. (coursera.org)
  • An increasing number of studies have shown that abnormalities such as aneuploidy and whole-chromosome loss of heterozygosity are commonly present in tumor cells. (biologists.org)
  • Foresta C, Ferlin A, Moro E (2000a) Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility. (springer.com)
  • 1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. (medlineplus.gov)
  • A deletion in the 1q21.1 region of chromosome 1 is involved in most cases of thrombocytopenia-absent radius (TAR) syndrome. (medlineplus.gov)
  • The deletion in chromosome 1 involved in TAR syndrome eliminates at least 200,000 DNA building blocks (200 kilobases, or 200 kb) from the long (q) arm of the chromosome, including a gene called RBM8A . (medlineplus.gov)
  • Chromosome deletion predicts aggressive neu. (bio-medicine.org)
  • The deletion of genetic material on chromosome 11 may account for a significant percentage of these high-risk neuroblastomas," said Dr. Attiyeh. (bio-medicine.org)
  • It is unknown what causes the deletion of genes on chromosome 11, at a location designated chromosome 11q23. (bio-medicine.org)
  • Five nucleotide substitutions and one single-base deletion were detected in introns 1, 2, and 3 and in the 3′ untranslated region. (aacrjournals.org)
  • Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity. (biodiscovery.com)
  • The reciprocal TIF2 - MOZ fusion gene is not expressed, perhaps as a result of a deletion near the chromosome 8 centromere. (bloodjournal.org)
  • Humans have two copies of chromosome 1, as they do with all of the autosomes , which are the non- sex chromosomes . (wikipedia.org)
  • Of the 46 chromosomes in each human cell except sperm and egg cells (which have only half that number), 44 are non-sex chromosomes or "autosomes. (brighthub.com)
  • Of these 23 pairs of chromosomes, 22 are autosomes, and one is a sex chromosome. (wikipedia.org)
  • In cells where whole copies of chromosome 22 were not identified, numerous fragments of this chromosome were retained and inserted into several marker and derivative chromosomes. (biomedcentral.com)
  • Two copies of chromosome 20, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
  • A 1q21.1 microduplication is a copied (duplicated) segment of genetic material at position q21.1 on one of the two copies of chromosome 1 in each cell. (medlineplus.gov)
  • People normally have two copies of this chromosome. (wikidoc.org)
  • Noticeably in addition to three copies of X chromosomes, there were paired Xq+ and a single Xp+ in most cells. (sigmaaldrich.com)
  • Several marker chromosomes were observed along with frequent minutes, and often 2 large chromosomes with subterminal centromeres.HeLa Marker Chromosomes: One copy of M2, two-four copies of M3 and one copy of M4 as revealed by G-banding patterns. (atcc.org)
  • 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)
  • Non-isotopic in situ hybridisation and radiation hybrid mapping have identified GPR72 to be localised on human chromosome 11q21.1, and GPR73 on human chromosome 2p14. (garvan.org.au)
  • Human breast carcinoma is thought to develop through progressive stages from atypical hyperplasias to in situ carcinoma and finally to invasive and metastatic cancer. (aacrjournals.org)
  • In this study, we used tissue microdissection to examine the loss of heterozygosity (LOH) of chromosome 11q13 in both in situ and invasive lesions of the breast, as compared to normal breast epithelium from the same patients. (aacrjournals.org)
  • Seventy-one % (15 of 21) of the microdissected in situ lesions showed LOH of chromosome 11q13. (aacrjournals.org)
  • Human chromosome 8 pair after G-banding . (wikidoc.org)
  • Chromosome 8 pair in human male karyogram . (wikidoc.org)
  • Chromosomes, Human, Pair 3" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
  • A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification. (harvard.edu)
  • This graph shows the total number of publications written about "Chromosomes, Human, Pair 3" by people in Harvard Catalyst Profiles by year, and whether "Chromosomes, Human, Pair 3" was a major or minor topic of these publication. (harvard.edu)
  • Below are the most recent publications written about "Chromosomes, Human, Pair 3" by people in Profiles. (harvard.edu)
  • The H2B‐GL105 gene is paired with a functional H2A histone gene and this H2B/H2B gene pair is seperated by a bidirectionally transcribed intergenic promoter region containing consensus TATA and CCAAT boxes and an OTF‐1 element. (elsevier.com)
  • Before the split between birds and mammals, the X and Y chromosomes were just like any other pair of chromosomes each was fairly similar and carried similar information. (bio-medicine.org)
  • One specific pair of chromosomes determines the sex or gender of the individual. (brighthub.com)
  • Twenty-two of these are autosomal chromosome pairs , while the remaining pair is sex-determining . (thefullwiki.org)
  • Mutations associated with the rearranged chromosomes cannot flow from one to another population, whereas genetic exchange will freely occur between colinear chromosomes. (pnas.org)
  • Mutations adaptive to local conditions will, therefore, accumulate differentially in the protected chromosome regions so that parapatric or partially sympatric populations will genetically differentiate, eventually evolving into different species. (pnas.org)
  • We report several different mutations of the gene (AGPAT2) encoding 1-acylglycerol-3-phosphate O-acyltransferase 2 in 20 affected individuals from 11 pedigrees of diverse ethnicities showing linkage to chromosome 9q34. (nih.gov)
  • Mutations in this gene cause cranioectodermal dysplasia-1. (jax.org)
  • Subsequent investigations have led to independent reports that identify distinct CYP1B 1 gene mutations that segregate with the GCL3A phenotype in PCG families. (cdc.gov)
  • Results have been read-across from chromosome aberrations studies using CHL cells from three structurally related analogue substances. (europa.eu)
  • abstract = "Abstract a variant human H2B histone gene (GL 105), previously shown to encode a 2300 nt replication independent mRNA, has been cloned. (elsevier.com)
  • The 3′ end of the cell cycle regulated mRNA terminates immediately following the region of hyphenated dyad symmetry typical of most histone mRNAs, whereas the constitutively expressed mRNA has a 1798 nt non‐translated trailer that contains the same region of hyphenated dyad symmetry but is polyadenylated. (elsevier.com)
  • These results demonstrate that cell cycle regulated and constitutively expressed histone mRNAs can be encoded by the same gene, and indicate that alternative 3′ end processing may be an important mechanism for regulation of histone mRNA. (elsevier.com)
  • Alignment of exons in seven PPAR mRNA splice variants is shown with 5′ end on the left and 3′ end on the right. (hindawi.com)
  • The genes on this chromosome therefore can not be transcribed into an mRNA transcript and remain unread. (wikipedia.org)
  • Telomeres are 5´ TTAGGG 3´ DNA tandem repeats located at the ends of eukaryotic chromosomes, with a structure conformed by at least six associated proteins -commonly referred to as telomere shelterin [ 1 ]. (omicsonline.org)
  • The sections that follow summarize key concepts concerning the structure of eukaryotic chromosomes. (encyclopedia.com)
  • Conventional cytogenetic techniques apply to the examination of metaphase chromosomes and provide a survey of the global integrity of genetic material in proliferating cells. (els.net)
  • Approximately 7 percent of individuals with Alagille syndrome have small deletions of genetic material on chromosome 20, in a region known as 20p12. (medlineplus.gov)
  • Chromosomes are packages of DNA, wound around proteins called histones. (creation.com)
  • Since the binding of DNA by histones interferes with this access, cells have evolved specific mechanism to destabilize nucleosomes in chromosome regions that must be transcribed. (encyclopedia.com)
  • Histones are DNA-binding proteins that help compact and fold DNA into chromosomes. (coursehero.com)
  • Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences (англ. (wikipedia.org)
  • cDNA cloning, expression, and localization to chromosome 9q34.3. (hmdb.ca)
  • for stable expression of either type 1 or type 2 11-βHSD (11 β-hydroxysteroid dehydrogenase) after transfection with 11-βHSD cDNA. (sigmaaldrich.com)
  • A cDNA library enriched for X chromosome transcripts will be constructed by laboratory in Heidelberg and made available to all participants. (europa.eu)
  • Researchers have identified several possible tumor suppressor genes in the deleted region of chromosome 1, and more research is needed to understand what role these genes play in neuroblastoma development. (medlineplus.gov)
  • The results of this study suggest that a tumor suppressor gene located on chromosome 11q13 may play an important role in the early stages of development of sporadic human breast cancer. (aacrjournals.org)
  • This gene can participate in a translocation with the Ewing's sarcoma gene on chromosome 21, which also leads to tumor formation. (genecards.org)
  • This suggests that chromosome instability and aneuploidy may play a critical role in tumor development and progression ( Sen, 2000 ). (biologists.org)
  • Based on the aggressiveness of the particular tumor, as defined by clinical and genetic features, metastasis may be detected as early as 2-3 after diagnosis and rarely as late as decades after treatment. (rarediseases.org)
  • Mucin 3 is a major com-ponent of various mucus gels and is broadly expressed in normal and tumor cells. (scbt.com)
  • Dose-response studies showed that the growth inhibition seen at lower concentrations of CDDO correlated with induction of the tumor suppressor gene caveolin-1, which is known to inhibit breast cancer cell growth. (aacrjournals.org)
  • RFLP and mapping of human MOX-1 gene on chromosome 3 (англ. (wikipedia.org)
  • Chromosome 20 spans about 63 million DNA building blocks (base pairs) and represents approximately 2 percent of the total DNA in cells. (medlineplus.gov)
  • Chromosome 8 spans about 145 million base pairs (the building material of DNA ) and represents between 4.5 and 5.0% of the total DNA in cells . (wikidoc.org)
  • Chromosome 1 spans about 249 million nucleotide base pairs , which are the basic units of information for DNA . (wikipedia.org)
  • We previously demonstrated that cells selected for resistance to 1,3-bis(2-chloroethyl)-1-nitrosourea (BCNU) are near-diploid, with over-representation of part or all of chromosomes 7 and 22. (biomedcentral.com)
  • While cells from untreated gliomas often have over-representation of chromosome 7, chromosome 22 is typically under-represented. (biomedcentral.com)
  • Karyotypic analyses demonstrated that cells selected for BCNU resistance were near-diploid with over-representation of chromosomes 7 and 22. (biomedcentral.com)
  • Cells selected for BCNU resistance either in vivo or in vitro retain sequences mapped to chromosome 22. (biomedcentral.com)
  • However, when a sufficient number of karyotypes are done it is possible to identify cells with over-representation of chromosome 22 in untreated tumors. (biomedcentral.com)
  • Thus, selection for cells with over-representation of chromosome 22 sequences by BCNU treatment suggests the presence on this chromosome of a gene or genes that confer a selective advantage to these cells. (biomedcentral.com)
  • the remaining 30% of cells had a rearrangement of chromosome 2 in the form of a ring, viz. (nih.gov)
  • Differential selection against cells with the ring chromosome in blood and skin probably occurred during subsequent embryological development. (nih.gov)
  • People with ring chromosome 20 syndrome have one copy of this abnormal chromosome in some or all of their cells. (medlineplus.gov)
  • These chromosome abnormalities are somatic, which means they are acquired during a person's lifetime and are present only in certain cells. (medlineplus.gov)
  • Studies suggest that some genes on the long arm of the chromosome may play critical roles in controlling the growth and division of cells. (medlineplus.gov)
  • Chromosome 1 is the largest human chromosome, spanning about 249 million DNA building blocks (base pairs) and representing approximately 8 percent of the total DNA in cells. (medlineplus.gov)
  • [5] It represents about 8% of the total DNA in human cells. (wikipedia.org)
  • Telomere shortening happens after each replication round in the majority of human cells, including adult stem cells, leading to telomere dysfunction and activation of senescence and/or apoptosis. (omicsonline.org)
  • Cytogenetics is the study of the genetic material in cells at the light microscopic level, with the goal of achieving optimal resolution for chromosomes or regions of chromosomes on a macrolevel. (els.net)
  • Although sodium selenite and zinc exhibit anti-cancer activity in esophageal cancer cells, their combined use can be toxic to normal human liver epithelial cells. (greenmedinfo.com)
  • The modal chromosome number was 64, occurring in 30% of cells. (sigmaaldrich.com)
  • er(12)t(8;12) (q22;p13) and four other marker chromosomes were common to most cells. (sigmaaldrich.com)
  • Here we investigate whether human primary fibroblasts exhibit similar errors in chromosome segregation and if at least part of lagging chromosomes may arise in cells entering anaphase in the presence of mono-oriented chromosomes. (biologists.org)
  • Kinetochores of lagging chromosomes in anaphase human cells were found to be devoid of the mitotic checkpoint phosphoepitopes recognized by the 3F3/2 antibody, suggesting that they attached kinetochore microtubules prior to anaphase onset. (biologists.org)
  • Live cell imaging of H2B histone-GFP-transfected cells showed that cells with mono-oriented chromosomes never enter anaphase and that lagging chromosomes appear during anaphase after chromosome alignment occurs during metaphase. (biologists.org)
  • Thus, our results demonstrate that the mitotic checkpoint efficiently prevents the possible aneuploid burden due to mono-oriented chromosomes and that merotelic kinetochore orientation is a major limitation for accurate chromosome segregation and a potentially important mechanism of aneuploidy in human cells. (biologists.org)
  • Caspase-3 is expressed in cells as an inactive precursor from which the p17 and p11 subunits of the mature caspase-3 are proteolytically generated during apoptosis. (scbt.com)
  • A second cytogenetic assay was performed, where the cells were treated for 3 h with 50, 100 and 350 µg/mL with metabolic activation and for 24 and 48 h with doses of 5, 10, 50, 150 and 200 µg/mL only without metabolic activation, respectively. (europa.eu)
  • The cells were exposed for 3 h in the presence and absence of metabolic activation and for 24 h in the absence of metabolic activation, respectively. (europa.eu)
  • In the first experiment, the cells were treated with concentrations of 0.03, 0.1, 0.3, 1, 3, 10, 33 and 100 µg/mL in ethanol with and without metabolic activation containing 8% rat liver S9-mix. (europa.eu)
  • Takeda K , Nakagawa N , Yamamoto T , Inagi R , Kawanishi K , Isegawa Y , Prokaryotic expression of an immediate-early gene of human herpesvirus 6 and analysis of its viral antigen expression in human cells. (cdc.gov)
  • Cytogenetic analysis of bone marrow cells showed that 3 cells were 46, XX and that 17 cells were inv(8)(p11q13), der(10) t(1;10)(q25;p15) (Fig 1 A). The patient was enrolled and treated on SWOG study 9034, but relapsed 30 days after induction. (bloodjournal.org)
  • The dual problem of how to store this large amount of genetic information but also to keep it accessible for use and for faithful maintenance, copying, and distribution to daughter cells during cell division , is solved by using proteins to package the DNA into chromosomes. (encyclopedia.com)
  • Cells of this line contain HeLa marker chromosomes, and were derived via HeLa contamination. (atcc.org)
  • Culture characteristics of four permanent lines of human cancer cells. (atcc.org)
  • Usually the total chromosome count was determined in 10-15 cells, but if mosaicism was suspected then 30 or more cell counts were undertaken [10]. (who.int)
  • In Experiment 2, the cells were treated with the test item at six dose levels using a 4-hour exposure group in the presence of metabolic activation ( 1% S9 final concentration) and a 24-hour exposure group in the absence of metabolic activation. (europa.eu)
  • 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)
  • In the study described here, we explored the effect of HER2 overexpression on the sensitivity of breast cancer cells to the growth-inhibitory effects of 2-cyano-3,12-dioxooleana-1,9-dien-28-oic acid (CDDO), a synthetic triterpenoid, both in vitro and in vivo in a xenograft model of breast cancer. (aacrjournals.org)
  • The novel triterpenoid 2-cyano-3,12-dioxooleana-1,9-dien-28-oic acid (CDDO) is effective in inducing apoptosis in leukemic ( 5 - 7 ), multiple myeloma ( 8 , 9 ), lung cancer ( 10 ), ovarian cancer ( 11 ), osteosarcoma ( 12 ), and melanoma ( 13 ) cells. (aacrjournals.org)
  • However, human cells make extensive use of alternative splicing to produce several different proteins from a single gene, and the human proteome is thought to be much larger than those of the aforementioned organisms. (thefullwiki.org)
  • We individually validate 153 probes and take advantage of our probe repository to quantify the extent of intermingling between multiple heterologous chromosome pairs, showing a much higher extent of intermingling in human embryonic stem cells compared to fibroblasts. (nature.com)
  • X-chromosome inactivation is random in the somatic cells of the body as either the maternal or paternal X-chromosome can become inactivated in each cell. (wikipedia.org)
  • In the somatic cells of a developing female child, one of the X-chromosomes is shortened and condensed. (wikipedia.org)
  • The specific over-representation of chromosome 22 sequences provides strong evidence that a gene(s) on this chromosome is important for survival after therapy and/or therapy resistance. (biomedcentral.com)
  • The researchers compared Y-chromosome sequences among 69 men. (freerepublic.com)
  • Jones MH, Furlong RA, Burkin H, Chalmers IJ, Brown GM, Khwaja O, Affara NA (1996) The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2. (springer.com)
  • The coding sequences (∼1 kb) of FUT2 [ABO-Secretor type α(1,2)fucosyltransferase] and of FUT6 [plasma α(1,3)fucosyltransferase] were analyzed for allelic polymorphism by direct sequencing in five populations. (genetics.org)
  • 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. (freerepublic.com)
  • ATCC confirmed this cell line is positive for the presence of human papilloma viral DNA sequences via PCR. (atcc.org)
  • Comparison of these sequences revealed the location of three exons (371, 1044, and 3707 bp) and two introns (390 and 3032 bp), with the CYP1B 1 open reading frame spanning exons 2 and 3. (cdc.gov)
  • These vertebrates have essentially the same genes and regulatory gene sequences as humans, but with only one-eighth the "junk" DNA. (thefullwiki.org)
  • The marker der(1) and M8 (or Xq+) were often paired. (sigmaaldrich.com)
  • Other molecular cytogenetics results : SKY confirmed the marker as a ring chromosome 8. (atlasgeneticsoncology.org)
  • This line was originally thought to be derived from an epidermoid carcinoma of the larynx, but was subsequently found, based on isoenzyme analysis, HeLa marker chromosomes, and DNA fingerprinting, to have been established via HeLa cell contamination. (atcc.org)
  • High-resolution chromosome mapping confirmed the previous somatic cell hybrid analysis and placed the CYP1B1 gene at 2p21-22 of human chromosome 2. (cdc.gov)
  • In other cases, individuals have a shorter or longer duplicated segment within the q21.1 region of chromosome 1. (medlineplus.gov)
  • Chromosome 20 was fully sequenced in 2001 and was reported to contain over 59 million base pairs representing 99.4% of the euchromatic DNA. (wikipedia.org)
  • The human organism contains threadlike, gene-bearing chromosomes, twenty three pairs of them. (brighthub.com)
  • In the common zebrafish model organism, heteromorphic sex chromosomes are not observed, and the potential role of a genetic component of sex determination remains largely unknown. (g3journal.org)
  • However, other affected individuals do not have gene deletions associated with the ring chromosome. (medlineplus.gov)
  • Deletions involving the long (q) arm of chromosome 20 appear to be common in blood-related cancers such as leukemia and lymphoma. (medlineplus.gov)
  • Deletions or duplications of genetic material from chromosome 20 can have a variety of effects, including intellectual disability, delayed development, distinctive facial features, skeletal abnormalities, and heart defects. (medlineplus.gov)
  • Chromosome 20 deletions in myeloid malignancies: reduction of the common deleted region, generation of a PAC/BAC contig and identification of candidate genes. (medlineplus.gov)
  • Additional FISH analysis using bacterial artificial chromosome probes spanning the length of chromosome 22 have allowed us to map the over-represented region to 22q12.3-13.32. (biomedcentral.com)
  • [5] Since then, due to sequencing improvements and fixes, the length of chromosome 20 has been updated to just over 63 million base pairs. (wikipedia.org)
  • Her works include Human Chromosomes: Structure, Behavior, Effects, a textbook on cytogenetics which is in its 4th edition. (wikipedia.org)
  • Human Chromosomes: Structure, Behavior, Effects. (wikipedia.org)
  • Sumner AT (1990) Chromosome Banding. (els.net)
  • Please upgrade your browser to a newer version to get the best experience on Human Metabolome Database. (hmdb.ca)
  • and the molecules required for chromosome condensation and sister-chromatid cohesion, members of the so-called s tructural m aintenance of c hromosomes (SMC) family. (genetics.org)
  • Definition: Chromosome having its centromere in the middle. (humpath.com)
  • Definition: Chromosome whose centromere lies very near one end. (humpath.com)
  • During M phase, each chromosome is duplicated, and each replica remains attached to its original at the centromere portion of the chromosome. (encyclopedia.com)
  • Ring chromosomes are a rare entity, which occur in less than 10% of all hematological neoplasm (Gebhart E, 2008). (atlasgeneticsoncology.org)
  • Chromosome 20 likely contains 500 to 600 genes that provide instructions for making proteins. (medlineplus.gov)
  • Telomeres are DNA tandem repeats associated with six proteins located at chromosome ends. (omicsonline.org)
  • The mucins are a family of highly glycosylated, secreted proteins with a basic structure consisting of a variable number of tandem repeats (VNTRs) encoded by 60 base pairs (Mucin 1), 69 base pairs (Mucin 2) and 51 base pairs (Mucin 3). (scbt.com)
  • Mucin 1 proteins are expressed as type I membrane proteins in addition to secreted forms. (scbt.com)
  • During interphase, the genes carried on the chromosomes are transcribed , to form proteins needed by the cell. (encyclopedia.com)
  • AEG40826, a small-molecule antagonist of IAP (inhibitor of apoptosis) proteins, is expected to enter Phase 1 clinical trials for the treatment of cancer in early 2008. (bio-medicine.org)
  • The proteins were called Ten-ms in zebrafish, teneurins in chicken, Ten-m1-4, Odz1-4, Ten-m/Odz1-4, DOC4 in mouse, neurestin in rat, and teneurin or Odz in human. (wikipedia.org)
  • Rooney DE and Czepulkowski BH (1992) Human Cytogenetics, 2nd edn. (els.net)
  • Molecular Cytogenetics 3: 1. (els.net)
  • She worked to characterize the effects and cytogenetics of trisomy 13 and trisomy 18, two rare and usually fatal genetic disorders caused by an extra copy of chromosome 13 and 18, respectively. (wikipedia.org)
  • A hybrid cell mapping panel for regional localization of probes to human chromosome 8. (semanticscholar.org)
  • Katsafanas GC , Schirmer EC , Wyatt LS , Frenkel N . In vitro activation of human herpesviruses 6 and 7 from latency. (cdc.gov)
  • In the studies using lymphocytes, the test item was considered to be non-clastogenic to human lymphocytes in vitro. (europa.eu)
  • Telomeres are specialized nucleoprotein structures that protect chromosome ends from persistent DNA damage response activation. (sciencemag.org)
  • How many base pairs of DNA do humans have in each somatic cell of our bodies? (brainscape.com)
  • Biochem J. 1997 Sep 1;326 ( Pt 2):455-61. (hmdb.ca)
  • Squalene monooxygenase (also called squalene epoxidase) is an enzyme that uses NADPH and molecular oxygen to oxidize squalene to 2,3-oxidosqualene (squalene epoxide). (wikipedia.org)
  • Vorsanova SG, Yurov YB and Iourov Y (2010) Human interphase chromosomes: a review of available molecular cytogenetic technologies. (els.net)
  • 2002 May;31(1):21-3. (nih.gov)
  • A major breakthrough in the fight against malaria is announced today (3 October 2002) by an international collaboration of scientists in the UK and America. (sanger.ac.uk)
  • 2002). «Functional human NAIP promoter transcription regulatory elements for the NAIP and PsiNAIP genes. (wikipedia.org)
  • This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. (wikipedia.org)
  • FUT1 encodes H type α(1,2)fucosyltransferase (H enzyme) that regulates the expression of the H antigen and thereafter A and/or B antigens in the erythroid lineage and in the vascular endothelia. (genetics.org)
  • FUT2 encodes Secretor type α(1,2)fucosyltransferase (Se enzyme) that regulates the expression of these antigens in the secretory glands and in the digestive mucosa. (genetics.org)
  • FUT3 encodes the Lewis α(1,3/4)fucosyltransferase that synthesizes the Lewis a and Lewis b epitopes, whereas the tissue expression of the FUT5 -encoding enzyme is not yet known. (genetics.org)
  • We have characterized a panel of somatic cell hybrids that carry fragments of human chromosome 8 and used this panel for the regional localization of anonymous clones derived from a chromosome 8 library. (semanticscholar.org)
  • They protect the ends of the chromosomes and every time a cell divides, the telomeres are shortened, losing between 25-200 bases. (abpischools.org.uk)
  • Due to the end replication problem (briefly, the incapacity of the DNA replication machinery to replicate the very ends of linear chromosomes) [ 2 ], the telomeres are shortened after each cell division. (omicsonline.org)
  • 1. Be able to list four ways of getting haploid plants. (umanitoba.ca)
  • A human egg contains only one set of chromosomes (23) and is said to be haploid. (wikipedia.org)
  • Sperm also have only one set of 23 chromosomes and are therefore haploid. (wikipedia.org)
  • Zhao H, Watkins JL, Piwnica-Worms H: Disruption of the checkpoint kinase 1/cell division cycle 25A pathway abrogates ionizing radiation-induced S and G2 checkpoints. (hmdb.ca)
  • It has been reported that LIF activates the AKT pathway in several different cell types, including human embryonic kidney 293T, liver Hep3B, and oligodendrocytes [7, 27]. (amazonaws.com)