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.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP F 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.
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.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
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.
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 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.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
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.
The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.
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 co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
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.
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.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Aberrant chromosomes with no ends, i.e., circular.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
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.
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.
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.
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.
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.
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.
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 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.
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 outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
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).
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 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.
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)
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.
The possession of a third chromosome of any one type in an otherwise diploid cell.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
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.
Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.
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.
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 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.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
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.
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.
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.
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 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.
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).
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.
Genetic loci associated with a QUANTITATIVE TRAIT.
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
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.
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.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
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.
An individual having different alleles at one or more loci regarding a specific character.
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)
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)
Genotypic differences observed among individuals in a population.
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 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.
The process by which a DNA molecule is duplicated.
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
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 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.
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.
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.
Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.
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.
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 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 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).
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.
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.
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.
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)
Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.
The relationships of groups of organisms as reflected by their genetic makeup.
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.
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.
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 biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
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.
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
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.
Established cell cultures that have the potential to propagate indefinitely.
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.
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.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
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.)
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
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.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
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.
The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
Genes that are located on the X CHROMOSOME.
Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
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.
Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Genes that influence the PHENOTYPE only in the homozygous state.
The functional hereditary units of BACTERIA.
PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.
Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.
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.
An individual in which both alleles at a given locus are identical.
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).
The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.
Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.
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.
Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.
The degree of replication of the chromosome set in the karyotype.
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.
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
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.
The genetic complement of a plant (PLANTS) as represented in its DNA.
Pairing of purine and pyrimidine bases by HYDROGEN BONDING in double-stranded DNA or RNA.
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.
Deoxyribonucleic acid that makes up the genetic material of fungi.
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)
In the interphase nucleus, a condensed mass of chromatin representing an inactivated X chromosome. Each X CHROMOSOME, in excess of one, forms sex chromatin (Barr body) in the mammalian nucleus. (from King & Stansfield, A Dictionary of Genetics, 4th ed)
Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.
DNA present in neoplastic tissue.
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.
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.
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)
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.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
A characteristic symptom complex.
The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.
Deoxyribonucleic acid that makes up the genetic material of plants.
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.
Proteins found in any species of bacterium.
DNA constructs that are composed of, at least, elements such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, that are required for successful replication, propagation to and maintenance in progeny cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
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 spatial arrangement of the atoms of a nucleic acid or polynucleotide that results in its characteristic 3-dimensional shape.
Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.
A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)
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 are located on the Y CHROMOSOME.
The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.
Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.
A form of GENE LIBRARY containing the complete DNA sequences present in the genome of a given organism. It contrasts with a cDNA library which contains only sequences utilized in protein coding (lacking introns).
The mechanisms by which the SEX of an individual's GONADS are fixed.
Deletion of sequences of nucleic acids from the genetic material of an individual.

Superimposed histologic and genetic mapping of chromosome 9 in progression of human urinary bladder neoplasia: implications for a genetic model of multistep urothelial carcinogenesis and early detection of urinary bladder cancer. (1/1281)

The evolution of alterations on chromosome 9, including the putative tumor suppressor genes mapped to the 9p21-22 region (the MTS genes), was studied in relation to the progression of human urinary bladder neoplasia by using whole organ superimposed histologic and genetic mapping in cystectomy specimens and was verified in urinary bladder tumors of various pathogenetic subsets with longterm follow-up. The applicability of chromosome 9 allelic losses as non-invasive markers of urothelial neoplasia was tested on voided urine and/or bladder washings of patients with urinary bladder cancer. Although sequential multiple hits in the MTS locus were documented in the development of intraurothelial precursor lesions, the MTS genes do not seem to represent a major target for p21-23 deletions in bladder cancer. Two additional tumor suppressor genes involved in bladder neoplasia located distally and proximally to the MTS locus within p22-23 and p11-13 regions respectively were identified. Several distinct putative tumor suppressor gene loci within the q12-13, q21-22, and q34 regions were identified on the q arm. In particular, the pericentromeric q12-13 area may contain the critical tumor suppressor gene or genes for the development of early urothelial neoplasia. Allelic losses of chromosome 9 were associated with expansion of the abnormal urothelial clone which frequently involved large areas of urinary bladder mucosa. These losses could be found in a high proportion of urothelial tumors and in voided urine or bladder washing samples of nearly all patients with urinary bladder carcinoma.  (+info)

Level of retinoblastoma protein expression correlates with p16 (MTS-1/INK4A/CDKN2) status in bladder cancer. (2/1281)

Recent studies have shown that patients whose bladder cancer exhibit overexpression of RB protein as measured by immunohistochemical analysis do equally poorly as those with loss of RB function. We hypothesized that loss of p16 protein function could be related to RB overexpression, since p16 can induce transcriptional downregulation of RB and its loss may lead to aberrant RB regulation. Conversely, loss of RB function has been associated with high p16 protein expression in several other tumor types. In the present study RB negative bladder tumors also exhibited strong nuclear p16 staining while each tumor with strong, homogeneous RB nuclear staining were p16 negative, supporting our hypothesis. To expand on these immunohistochemical studies additional cases were selected in which the status of the p16 encoding gene had been determined at the molecular level. Absent p16 and high RB protein expression was found in the tumors having loss of heterozygosity within 9p21 and a structural change (mutation or deletion) of the remaining p16 encoding gene allele, confirming the staining results. These results strongly support the hypothesis that the RB nuclear overexpression recently associated with poor prognosis in bladder cancer is also associated with loss of p16 function and implies that loss of p16 function could be equally deleterious as RB loss in bladder and likely other cancers.  (+info)

Diaphyseal medullary stenosis with malignant fibrous histiocytoma: a hereditary bone dysplasia/cancer syndrome maps to 9p21-22. (3/1281)

Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH) is an autosomal dominant bone dysplasia/cancer syndrome of unknown etiology. This rare hereditary cancer syndrome is characterized by bone infarctions, cortical growth abnormalities, pathological fractures, and eventual painful debilitation. Notably, 35% of individuals with DMS develop MFH, a highly malignant bone sarcoma. A genome scan for the DMS-MFH gene locus in three unrelated families with DMS-MFH linked the syndrome to a region of approximately 3 cM on chromosome 9p21-22, with a maximal two-point LOD score of 5.49 (marker D9S171 at recombination fraction [theta].05). Interestingly, this region had previously been shown to be the site of chromosomal abnormalities in several other malignancies and contains a number of genes whose protein products are involved in growth regulation. Identification of this rare familial sarcoma-causing gene would be expected to simultaneously define the cause of the more common nonfamilial, or sporadic, form of MFH-a tumor that constitutes approximately 6% of all bone cancers and is the most frequently occurring adult soft-tissue sarcoma.  (+info)

Identification and characterization of a homozygous deletion found in ovarian ascites by representational difference analysis. (4/1281)

We have performed representational difference analysis (RDA) on DNA from tumor cells and normal fibroblasts isolated from the ascites of a patient with ovarian cancer. Five of six products of the RDA were homozygously deleted from the tumor DNA. One of these products has been characterized and identifies a homozygous deletion of approximately 6.9 Mb at chromosome 9p21 in the original ovarian tumor material. This deletion encompasses CDKN2A (p16), CDKN2B (p15), and IFN-alpha. PCR analysis of other tumor cell lines using the novel STS based on the RDA product has shown it to lie between IFN-alpha and p16, and to identify the distal extent of a homozygous deletion in another ovarian cancer cell line. These data provide further evidence for a tumor suppressor locus distinct from, but mapping close to, p16 on 9p21. Cytogenetic analysis using comparative genomic hybridization (CGH) performed on the same primary tumor confirmed a loss of material from chromosome 9p. However, the CGH technique had neither the resolution nor the sensitivity to define a subregion of homozygous loss.  (+info)

Frequent genetic alterations in simple urothelial hyperplasias of the bladder in patients with papillary urothelial carcinoma. (5/1281)

In order to understand the origin of bladder cancer, very early urothelial lesions must be investigated in addition to more advanced tumors. Tissue from 31 biopsies of 12 patients with urothelial hyperplasias and simultaneous or consecutive superficial papillary tumors were used to microdissect urothelium from 15- microm sections of biopsies. The biopsies were obtained with the recently developed highly sensitive diagnostic method of 5-aminolevulinic acid-induced fluorescence endoscopy (AFE). Besides flat and papillary urothelial neoplasms, the method of photodynamic diagnostics also detects simple urothelial hyperplasias as fluorescent positive lesions. In addition, 12 fluorescence-positive biopsies showing histologically normal urothelium were investigated. Fluorescence in situ hybridization was done using a dual color staining technique of biotinylated centromeric probes of chromosomes 9 and 17 and digoxigenin-labeled gene-specific P1 probes for chromosomes 9q22 (FACC), 9p21(p16/CDKI2), and 17p13(p53). Ten of 14 hyperplasias (70%) showed deletions of chromosome 9. In 7 out of 8 patients with genetic alterations in the hyperplasias the genetic change was also present in the papillary tumor. Six out of 12 samples of microdissected normal urothelium also showed genetic alterations on chromosome 9. Microdissection of urothelial lesions, obtained during AFE, has led to the first unequivocal documentation of genetic changes in urothelial lesions diagnosed as normal in histopathology. Thus, this technical approach is important to provide insight into the earliest molecular alterations in bladder carcinogenesis.  (+info)

Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene. (6/1281)

Family ZMK is a large Irish kindred that segregates progressive sensorineural hearing loss and retinitis pigmentosa. The symptoms in the family are almost identical to those observed in Usher syndrome type III. Unlike that in Usher syndrome type III, the inheritance pattern in this family is compatible with dominant, X-linked dominant, or maternal inheritance. Prior linkage studies had resulted in exclusion of most candidate loci and >90% of the genome. A tentative location for a causative nuclear gene had been established on 9q; however, it is notable that no markers were found at zero recombination with respect to the disease gene. The marked variability in symptoms, together with the observation of subclinical muscle abnormalities in a single muscle biopsy, stimulated sequencing of the entire mtDNA in affected and unaffected individuals. This revealed a number of previously reported polymorphisms and/or silent substitutions. However, a C-->A transversion at position 12258 in the gene encoding the second mitochondrial serine tRNA, MTTS2, was heteroplasmic and was found in family members only. This sequence change was not present in 270 normal individuals from the same ethnic background. The consensus C at this position is highly conserved and is present in species as divergent from Homo sapiens as vulture and platypus. The mutation probably disrupts the amino acid-acceptor stem of the tRNA molecule, affecting aminoacylation of the tRNA and thereby reducing the efficiency and accuracy of mitochondrial translation. In summary, the data presented provide substantial evidence that the C12258A mtDNA mutation is causative of the disease phenotype in family ZMK.  (+info)

Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31. (7/1281)

Familial dysautonomia (FD) is an autosomal recessive disorder characterized by developmental arrest in the sensory and autonomic nervous systems and by Ashkenazi Jewish ancestry. We previously had mapped the defective gene (DYS) to an 11-cM segment of chromosome 9q31-33, flanked by D9S53 and D9S105. By using 11 new polymorphic loci, we now have narrowed the location of DYS to <0.5 cM between the markers 43B1GAGT and 157A3. Two markers in this interval, 164D1 and D9S1677, show no recombination with the disease. Haplotype analysis confirmed this candidate region and revealed a major haplotype shared by 435 of 441 FD chromosomes, indicating a striking founder effect. Three other haplotypes, found on the remaining 6 FD chromosomes, might represent independent mutations. The frequency of the major FD haplotype in the Ashkenazim (5 in 324 control chromosomes) was consistent with the estimated DYS carrier frequency of 1 in 32, and none of the four haplotypes associated with FD was observed on 492 non-FD chromosomes from obligatory carriers. It is now possible to provide accurate genetic testing both for families with FD and for carriers, on the basis of close flanking markers and the capacity to identify >98% of FD chromosomes by their haplotype.  (+info)

Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome. (8/1281)

The nail patella syndrome (NPS1) is an autosomal dominant disorder characterised by dysplasia of the finger nails and skeletal abnormalities. NPS1 has been mapped to 9q34, to a 1 cM interval between D9S315 and the adenylate kinase gene (AK1). We have mapped the breakpoints within the candidate NPS1 region in two unrelated patients with balanced translocations. One patient [46,XY,t(1;9)(q32.1;q34)] was detected during a systematic survey of old cytogenetic files in Denmark and southern Sweden. The other patient [46,XY,t(9;17)(q34.1;q25)] was reported previously. D9S315 and AK1 were used to isolate YACs, from which endclones were used to isolate PACs. Two overlapping PAC clones span the 9q34 breakpoints in both patients, suggesting that NPS1 is caused by haploinsufficiency due to truncation or otherwise inactivation of a gene at or in the vicinity of the breakpoints.  (+info)

TY - JOUR. T1 - A stul polymorphism on chromosome 3p14.1 -14.2 (D3S622) defined by two polymorphic stul sites 2.4 kb apart. AU - Secore, S. L.. AU - Walker, A. P.. AU - Herbstreith, M. H.. AU - Siddique, T.. AU - Jeffers, A. J.. AU - Deshields, T. R.. AU - Speer, H. C.. AU - Pericak-vance, M. A.. AU - Golembieski, W. A.. AU - Smith, David I. AU - Hung, W. Y.. AU - Yamaoka, L. H.. AU - Roses, A. D.. AU - Bartlett, R. J.. PY - 1991/11/25. Y1 - 1991/11/25. UR - UR - U2 - 10.1093/nar/19.22.6349. DO - 10.1093/nar/19.22.6349. M3 - Article. C2 - 1956809. AN - SCOPUS:0026001211. VL - 19. SP - 6349. JO - Nucleic Acids Research. JF - Nucleic Acids Research. SN - 0305-1048. IS - 22. ER - ...
Authors: Sarah L Spain, Luis G Carvajal-Carmona, Kimberley M Howarth, Angela M Jones, Zhan Su, Jean-Baptiste Cazier, Jennet Williams, Lauri A Aaltonen, Paul Pharoah, David J Kerr, Jeremy Cheadle, Li Li, Graham Casey, Pavel Vodicka, Oliver Sieber, Lara Lipton, Peter Gibbs, Nicholas G Martin, Grant W Montgomery, Joanne Young, Paul N Baird, Hans Morreau, Tom van Wezel, Clara Ruiz-Ponte, Ceres Fernandez-Rozadilla, Angel Carracedo, Antoni Castells, Sergi Castellvi-Bel, Malcolm Dunlop, Richard S Houlston, Ian PM Tomlinson
This software draws an image for one chromosomal rearrangement.. Enter the description of ONE rearrangement (in numbers: 1; it is exactly 1, not 2, not 3!) giving raise to one or more derivative chromosome(s) in the text field below, select the desired map viewer with which chromosomal bands are to be linked, banding resolution and color style, then click Draw. The CyDAS software will then compute an image map containing the ideogram(s) of the derivative chromosome, with links to the NCBI or Ensembl map viewer.. It is absolutely indispensible that break points are specified; denoting them at a lower resolution than the resolution for the image may yield inconsistencies. Ring chromosomes are shown linearized.. Hint: a complete karyogram can be drawn with the example program #4.. ...
Zeggini E, Weedon MN, Lindgren CM, Frayling TM, Elliott KS, Lango H, Timpson NJ, Perry JR, Rayner NW, Freathy RM, Barrett JC, Shields B, Morris AP, Ellard S, Groves CJ, Harries LW, Marchini JL, Owen KR, Knight B, Cardon LR, Walker M, Hitman GA, Morris AD, Doney AS, Burton PR, Clayton DG, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, Ouwehand WH, Samani NJ, Todd JA, Donnelly P, Davison D, Easton D, Evans D, Leung HT, Spencer CC, Tobin MD, Attwood AP, Boorman JP, Cant B, Everson U, Hussey JM, Jolley JD, Knight AS, Koch K, Meech E, Nutland S, Prowse CV, Stevens HE, Taylor NC, Walters GR, Walker NM, Watkins NA, Winzer T, Jones RW, McArdle WL, Ring SM, Strachan DP, Pembrey M, Breen G, St Clair D, Caesar S, Gordon-Smith K, Jones L, Fraser C, Green EK, Grozeva D, Hamshere ML, Holmans PA, Jones IR, Kirov G, Moskvina V, Nikolov I, ODonovan MC, Owen MJ, Collier DA, Elkin A, Farmer A, Williamson R, McGuffin P, Young AH, Ferrier IN, Ball SG, Balmforth AJ, Barrett JH, Bishop DT, Iles MM, Maqbool A, ...
Recent studies suggest that ANRIL expression mediates susceptibility to CAD1 via CDKN2B.2 We used fluorescently-labelled whole-blood RNA, from 20 healthy volunteers genotyped for the CAD-risk-SNP rs2891168, to probe custom-designed Agilent tiling expression microarrays. Raw data were normalized to probe GC content and housekeeping genes. We found that ANRIL exons 1-4 were more abundantly expressed in blood than 5-20, with exons 6, 8, 9, 20 showing low expression. We derived a set of training tiling probes from HUVEC cells in which ANRIL expression was attenuated using siRNA against exons 13 and 19. ANRIL expression (probes in exons 5,6,8,13,16,18,19) was reduced by at least 50% and CDKN2B expression (probes in exons 1,2) increased, with no effect on CDKN2A. We confirmed these data using real-time QPCR. Using the tiling probe training-set, a probe in exon 16 of ANRIL showed a CAD genotype-specific difference in expression (p,0.001), with the risk-allele lower, and probes in exon 2 of CDKN2B ...
p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.,/p> ,p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.,/p> ,p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).,/p> ,p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x,sup>64,/sup> + x,sup>4,/sup> + x,sup>3,/sup> + x + 1. The algorithm is described in the ISO 3309 standard. ,/p> ,p class=publication>Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.,br /> ,strong>Cyclic redundancy and other checksums,/strong>,br /> ,a href=>Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993),/a>),/p> Checksum:i ...
LRSAM1小鼠多克隆抗体(ab73113)可与人样本反应并经WB, ELISA实验严格验证,被2篇文献引用。所有产品均提供质保服务,中国75%以上现货。
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This study suggests that GBM can be categorized into genetic subgroups and validates aCGH for detecting CNAs in GBM. Our data also identified candidate loci for homozygous deletions and amplifications. We compared aCGH results with data obtained by chromosomal CGH, FISH, and quantitative PCR, and conclude that RR obtained from aCGH is a reliable estimate of relative copy number. Moreover, unlike chromosome CGH, aCGH detects homozygous loss and amplicon size and maps CNAs to precise locations in the genome.. Genetic subgroups. Our data suggest that there are genetically distinct subgroups within GBM (Fig. 7). We identified three provisional genetic subgroups: one with loss of chromosome 10 and gain of chromosome 7 (group C), a second with loss of chromosome 10 only (group B); and a third without chromosome 10 loss or chromosome 7 gain (group A). If the mechanisms that underlie malignant behavior in these genetic subgroups substantially differ, we expect that subgroups may behave differently and ...
In countries where comparative genomic hybridization arrays (aCGH) and next generation sequencing are not widely available due to accessibility and economic constraints, conventional 400-500-band karyotyping is the first-line choice for the etiological diagnosis of patients with congenital malformations and intellectual disability. Conventional karyotype analysis can rule out chromosomal alterations greater than 10 Mb. However, some large structural abnormalities, such as derivative chromosomes, may go undetected when the analysis is performed at less than a 550-band resolution and the size and banding pattern of the interchanged segments are similar. Derivatives frequently originate from inter-chromosomal exchanges and sometimes are inherited from a parent who carries a reciprocal translocation. We present two cases with derivative chromosomes involving a 9.1 Mb 5p deletion/14.8 Mb 10p duplication in the first patient and a 19.9 Mb 5p deletion/ 18.5 Mb 9p duplication in the second patient. These long
Gorlin syndrome is a rare genetical disorder. It is caused as a result of mutation in the gene. The gene responsible for this mutation is present on the chromosome 9. The mutation changes the gene actual sequence thus making it abnormal. This results in gorlin syndrome.. The main factor that contributes to the gene mutation is climate change from cooler climates to intense hot climates. This sudden change makes the particular regions more prone to the syndrome. The races mostly affected by this syndrome are African Americans and Caucasians.. Gorlin syndrome is autosomal dominant and equally found among both men and women. Autosomal dominant means that one copy of the mutated gene is sufficient to cause the disease. The child inherits the syndrome if either parent is affected and passes the gene to the child. Symptoms of Gorlin Syndrome ...
TY - JOUR. T1 - POT1 loss-of-function variants predispose to familial melanoma. AU - Robles-Espinoza, Carla Daniela. AU - Harland, Mark. AU - Ramsay, Andrew J.. AU - Aoude, Lauren G.. AU - Quesada, Victor. AU - Ding, Zhihao. AU - Pooley, Karen A.. AU - Pritchard, Antonia L.. AU - Tiffen, Jessamy C.. AU - Petljak, Mia. AU - Palmer, Jane M.. AU - Symmons, Judith. AU - Johansson, Peter A.. AU - Stark, Mitchell S.. AU - Gartside, Michael G.. AU - Snowden, Helen. AU - Montgomery, Grant W.. AU - Martin, Nicholas G.. AU - Lite, Jimmy Z.. AU - Choi, Jiyeon. AU - Makowski, Matthew. AU - Brown, Kevin M.. AU - Dunning, Alison M.. AU - Keane, Thomas M.. AU - Lopez-Otin, Carlos. AU - Gruis, Nelleke A.. AU - Hayward, Nicholas K.. AU - Bishop, D. Timothy. AU - Newton-Bishop, Julia A.. AU - Adams, David J.. N1 - © 2017 Macmillan Publishers Limited, part of Springer Nature. All rights reserved.. PY - 2014/5. Y1 - 2014/5. N2 - Deleterious germline variants in CDKN2A account for around 40% of familial melanoma ...
InterPro provides functional analysis of proteins by classifying them into families and predicting domains and important sites. We combine protein signatures from a number of member databases into a single searchable resource, capitalising on their individual strengths to produce a powerful integrated database and diagnostic tool.
Deleterious germline variants in CDKN2A account for around 40% of familial melanoma cases, and rare variants in CDK4, BRCA2, BAP1 and the promoter of TERT have also been linked to the disease. Here we set out to identify new high-penetrance susceptibility genes by sequencing 184 melanoma cases from 105 pedigrees recruited in the UK, The Netherlands and Australia that were negative for variants in known predisposition genes. We identified families where melanoma cosegregates with loss-of-function...
Deleterious germline variants in CDKN2A account for around 40% of familial melanoma cases, and rare variants in CDK4, BRCA2, BAP1 and the promoter of TERT have also been linked to the disease. Here we set out to identify new high-penetrance susceptibility genes by sequencing 184 melanoma cases from …
DB-ID: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro ...
Principal Investigator:KATO Koichi, Project Period (FY):1997 - 1998, Research Category:Grant-in-Aid for Scientific Research (C), Section:一般, Research Field:Physical pharmacy
• A patient with the nevoid basal cell carcinoma syndrome had been treated with radiation therapy to the hands at 5 years of age. Multiple basal cell carcinomas
Nevoid basal cell carcinoma syndrome (NBCCS) represents a series of multiorgan abnormalities known to be the consequence of abnormalities in the PTCH gene. The syndrome has been documented for 50 years, but more recent developments in molecular genetics have dramatically increased understanding of its pathophysiology and opened up molecular a...
The clinical response of the main target (and secondary target, as appropriate) BCC(s) to treatment was evaluated using the following 6-point scale comparing the assessment at the visit to the clinical presentation at Baseline: 0 = Worsening, 1 = No change, 2 = Slight clearance (1-25% improvement), 3 = Moderate clearance (26-75% improvement), 4 = Marked clearance (76-99% improvement),5 = Complete clearance (100% improvement) Complete clearance was defined as no clinical residual signs of carcinoma, as evaluated by the Investigator at a post-Baseline visit, with the exception of post-inflammatory changes such as minimal residual erythema or residual hyper-pigmentation or hypo-pigmentation or residual scarring ...
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly ...
Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a condition that affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors.In people with Gorlin syndrome, the type of cancer diagnosed most often is basal cell carcinoma, which is the most common form of skin cancer. Explore symptoms, inheritance, genetics of this condition.
The SUFU gene is associated with autosomal dominant nevoid basal cell carcinoma syndrome (NBCCS) (MedGen UID: 2554), and medulloblastoma (MedGen UID: 7517). Additionally, there is preliminary evidence supporting a correlation with susceptibility to meningioma (MedGen UID: 232281).
Hepatocellular carcinoma (HCC) is a common malignant tumor with high fatality rate. Recent studies reported that up-regulation of long non-coding RNA antisense non-coding RNA in the INK4 locus (lncRNA ANRIL) was found in HCC tissues, and which could affect HCC cells biological processes. However, the potential molecular mechanism of ANRIL in HCC is still unclear. The study aimed to uncover the effect of ANRIL on HepG2 cells growth, migration and invasion. The knockdown expression vectors of ANRIL were transfected into HepG2 cells, and qRT-PCR, CCK-8, flow cytometry, Transwell and western blot assays were performed to analyze the effect of ANRIL on cell proliferation, apoptosis, migration and invasion. The relative expression of miR-191 was then examined in ANRIL knockdown vector transfected cells. These experiments were repeated again for exploring the effect of miR-191 on HepG2 cells. NF-κB and Wnt/β-catenin signaling pathways were examined by using western blot assay. Knockdown of ANRIL inhibited
The HBL and LND1 cell lines, wt for BRAF, highly express PGC1alpha while hmel1, hmel9, hmel11, Mba72, M3, presenting BRAF mutations at the V600 residue, show a downregulation of this gene. MITF expression levels were more abundant in HBL and LND1 cell lines with respect to the other cell lines harbouring BRAF mutations. There is a direct correspondence between PGC1alpha and MITF levels: higher levels of PGC1alpha are associated with an enhanced MITF quantity. The analysis of cAMP levels in our melanoma cell lines showed a similar trend, being higher in wt BRAF cell lines compared to the other cell lines. ...
The nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin syndrome, is a multisystem autosomal dominant disorder. The salient features of this syndrome include multiple basal cell carcinomas, palmar and/or plantar pits, odontogenic keratocysts, skeletal and developmental anomalies, and ectopic calcification. Other features include such tumors as ovarian fibromas and medulloblastomas. There is extensive interfamilial as well as intrafamilial variability with respect to the manifestation and severity of the phenotype. Alterations in the human homologue (PTCH) of the Drosophila segment polarity gene patched have been identified in NBCCS patients as well as tumors associated with this syndrome. We report several mutations in this gene in NBCCS patients and present the clinical phenotypes of the individuals in whom these mutations were identified.. ...
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin-Goltz syndrome is characterized by basal cell carcinoma (BCC), odontogenic keratocy..
Normally, every cell has 2 copies of each gene: one inherited form the mother and one inherited from the father. NBCCS follows an autosomal dominant inheritance pattern, in which a mutation needs to happen in only 1 copy of the gene for a person to have the increased risk. This means that a parent with a gene mutation may pass along a copy of the normal gene or a copy of the gene with the mutation. Therefore, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. A brother, sister, or parent of a person who has a mutation also has up to a 50% chance of having the same mutation. However, if the parents test negative for the mutation (meaning each persons test results found no mutation), the risk to the siblings significantly decreases but their risk may still be higher than an average risk. It is also possible that the NBCCS in an individual was caused not by an inherited mutation but, rather, by a spontaneous gene mutation (see below).. Options exist for people ...
In August 2019, the U.S. Food and Drug Administration granted breakthrough therapy designation to an experimental immunotherapy being developed in the Center for Cancer Research (CCR) for the treatment of B-cell acute lymphoblastic leukemia (ALL), a type of blood cancer. The designation will advance CCRs development and testing of an immunotherapy for children and young
The (9;22) translocation which produces the Philadelphia (Ph1) chromosome activates the abl oncogene from chromosome 9 by recombination with the bcr gene from chromosome 22. This fusion gene is transcribed into a new 8.5-kilobase chimeric mRNA which is translated into a novel Mr 210,000 fusion protein which has a protein tyrosine kinase activity that is greatly increased in comparison to the activity of the normal abl protein. Studies from this laboratory and others have shown that virtually all patients with chronic myelogenous leukemia have this new bcr/abl fusion gene. In contrast to these findings in chronic myelogenous leukemia, a small number of patients with Ph1(+) acute lymphoblastic leukemia (ALL) have been studied and were found to lack the bcr/abl fusion gene [bcr(-)], but to have a new activation of abl, by recombination with an as yet undetermined region on chromosome 22. In this study, nine adults with Ph1(+)-ALL have been examined for evidence of a bcr/abl fusion gene. Of the nine ...
A parade recently passed by Charlotte Lalas home after she wrapped up her first year of treatment for B-Cell Acute Lymphoblastic Leukemia.
CDKN2AIPNL - CDKN2AIPNL (untagged)-Human CDKN2A interacting protein N-terminal like (CDKN2AIPNL) available for purchase from OriGene - Your Gene Company.
TY - JOUR. T1 - Successful treatment of an intractable case of hereditary basal cell carcinoma syndrome with paclitaxel [8]. AU - El Sobky, R. A.. AU - Kallab, A. M.. AU - Dainer, P. M.. AU - Jillella, A. P.. AU - Lesher, Jr. PY - 2001/7/7. Y1 - 2001/7/7. UR - UR - M3 - Letter. C2 - 11405789. AN - SCOPUS:0034969154. VL - 137. SP - 827. EP - 828. JO - JAMA Dermatology. JF - JAMA Dermatology. SN - 2168-6068. IS - 6. ER - ...
Introduction. Atrial fibrillation (AF) is a common arrhythmia in humans and a major cause of morbidity and mortality. We have previously reported a genome-wide study identifying sequence variants on chromosome 4q25 that confer risk of AF. We have now expanded our cohort for genome-wide association stud, in the attempt to discover additional variants that associate with the common forms of AF.. Methods. A sample set of 2,385 Icelandic patients with AF and/or atrial flutter (AFl) and 33,752 Icelandic population controls were genotyped with the Illumina HumanHap300 and HumanHapCNV370 bead chips, yielding 304,226 SNPs that were tested individually for association. Of the top ten SNPs, seven represented the previously discovered signal on chromosome 4q25. The remaining three SNPs were genotyped in three replication cohorts of European descent, from Iceland (989 cases and 2,027 controls), Norway (725 cases and 725 controls) and the United States (735 cases and 729 controls).. Results. One SNP, ...
Intimacy counselling. Find out more about our free, confidential counselling with medical specialists trained in intimacy, body image, sexual confidence and relationships. Available to all those facing cancer and their partners, including members of the LGBTQI community. ...
The tumor suppressor gene MEN1 and several oncogenes including CCND1/cyclin D1/PRAD1 map to chromosome 11q13. However, molecular and cytogenetic analysis suggests the presence of a second tumor suppressor locus at this chromosome region. We have identified a novel gene from chromosome 11q13, which e …
R, this data suggests that Mtap may be acting in a haploinsufficient manner. To develop evidence that germline heterozygosity for Mtap can have phenotypic
Katoh M (August 2002). "Molecular cloning and characterization of OSR1 on human chromosome 2p24". International Journal of ... "Molecular analysis of odd-skipped, a zinc finger encoding segmentation gene with a novel pair-rule expression pattern". The ... Protein odd-skipped-related 1 is a transcription factor that in humans is encoded by the OSR1 gene.[5][6][7] The OSR1 and OSR2 ... A variant human OSR1 allele which does not produce a functional transcript and found in 6% of Caucasian populations, reduces ...
In human, the gene for adipose differentiation related protein is located at short p arm of chromosome 9 at region 22 band 1 ... from base pair 19108391 to 19127606 (GRCh38.p7) (map). The proposed models for adipose differentiation related protein ( ... In humans it is encoded by the ADFP gene. This protein surrounds the lipid droplet along with phospholipids and are involved in ... In humans, a substitution mutation at the C-terminal region of perlipin 2 was shown to affect both the structure and function ...
The human FABP1 gene is located on the short (p) arm of chromosome 2 from base pair 88,122,982 to base pair 88,128,131. FABP1 ... FABP1 is a human gene coding for the protein product FABP1 (Fatty Acid-Binding Protein 1). It is also frequently known as liver ... Chan L, Wei CF, Li WH, Yang CY, Ratner P, Pownall H, Gotto AM, Smith LC (March 1985). "Human liver fatty acid binding protein ... On exon 3 of the human FABP1 gene an Ala to Thr substitution has been identified leading to a T94A missense mutation. Carriers ...
CTNS is located on the p arm of human chromosome 17, at position 13.2.[5] It spans base pairs 3,636,468 and 3,661,542, and ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. .mw-parser-output ... "American Journal of Human Genetics. 63 (5): 1352-62. doi:10.1086/302118. PMC 1377545. PMID 9792862.. ... "American Journal of Human Genetics. 69 (4): 712-21. doi:10.1086/323484. PMC 1226058. PMID 11505338.. ...
... from base pair 108,709,355 to base pair 108,775,950. Originally, it was proposed that the IKBKAP gene in humans was encoding a ... By 2001, the genetic cause of familial dysautonomia was localized to a dysfunctional region spanning 177kb on chromosome 9q31. ... The IKAP protein is thought to participate as a sub-unit in the assembly of a six-protein putative human holo-Elongator complex ... IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein) is a human gene ...
PAR1 comprises 2.6 Mbp of the short-arm tips of both X and Y chromosomes in humans and great apes (X and Y are 155 Mbp and 59 ... Pairing (synapsis) of the X and Y chromosomes and crossing over (recombination) between their pseudoautosomal regions appear to ... The function of these pseudoautosomal regions is that they allow the X and Y chromosomes to pair and properly segregate during ... between the pseudoautosomal regions of the X and Y chromosomes can disrupt pairing and recombination, and consequently cause ...
While normal cells contain 46 chromosomes, 23 pairs, gamete cells only contain 23 chromosomes, and it is when these two cells ... Human reproduction is any form of sexual reproduction resulting in human fertilization. It typically involves sexual ... Heterosexuality Antinatalism Evolution of sexual reproduction Female infertility Human Reproduction (journal) Journal of Human ... A human baby is nearly helpless and the growing child requires high levels of parental care for many years. One important type ...
Humans have one pair fewer chromosomes than the great apes. Human chromosome 2 appears to have resulted from the fusion of two ... The normal human karyotypes contain 22 pairs of autosomal chromosomes and one pair of sex chromosomes (allosomes). Normal ... The karyotype of humans includes only 46 chromosomes.[15][16] The great apes have 48 chromosomes. Human chromosome 2 is now ... Humans have FN = 82,[37] due to the presence of five acrocentric chromosome pairs: 13, 14, 15, 21, and 22 (the human Y ...
"Identification of a second human subtilisin-like protease gene in the fes/fps region of chromosome 15". DNA and Cell Biology. ... "cDNA and gene structure for a human subtilisin-like protease with cleavage specificity for paired basic amino acid residues". ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. ... "Entrez Gene: FURIN furin (paired basic amino acid cleaving enzyme)".. *^ Roebroek AJ, Schalken JA, Leunissen JA, Onnekink C, ...
The chapters are numbered for the pairs of human chromosomes, one pair being the X and Y sex chromosomes, so the numbering goes ... The book devotes one chapter to each pair of human chromosomes. Since one (unnumbered) chapter is required to discuss the sex ... the chapters matching the 23 pairs of human chromosomes, and notes that Genome is the third of Ridley's books that "tries to ... The impact of stress on the human body is described starting with the creation of hormones by the CYP17 gene on chromosome 10. ...
The human NOBOX is located in chromosome 7q35 while the mouse NOBOX is in proximal chromosome 6. ... It contains an asparagine residue at position 51 which is important for its interactions with DNA base pairs.[12][13][14] ... Homeobox protein NOBOX, also known as newborn ovary homeobox protein, is a protein that in humans is encoded by the NOBOX gene. ... The human NOBOX is a 14 kb protein and encoded by 8 exons.[6] It has a proline rich C terminus and contains putative SH3 and WW ...
COL7A1 is located on the short arm of human chromosome 3, in the chromosomal region denoted 3p21.31. The gene is approximately ... COL7A1 is transcribed into an mRNA of 9,287 base pairs. In the skin, the type VII collagen protein is synthesized by ... Collagen alpha-1(VII) chain is a protein that in humans is encoded by the COL7A1 gene. This gene encodes the alpha chain of ... Greenspan DS, Byers MG, Eddy RL, Hoffman GG, Shows TB (1993). "Localization of the human collagen gene COL7A1 to 3p21.3 by ...
Human leukocyte antigen (HLA) B27 (subtypes B*2701-2759) is a class I surface antigen encoded by the B locus in the major ... Diseases associated with the HLA-B27 subtype can be remembered with the mnemonic PAIR, and include Psoriasis, Ankylosing ... histocompatibility complex (MHC) on chromosome 6 and presents antigenic peptides (derived from self and non-self antigens) to T ... For example, about 8% of Caucasians, 4% of North Africans, 2-9% of Chinese, and 0.1-0.5% of persons of Japanese descent possess ...
Chromosome abnormalities are detected in 1 of 160 live human births. Apart from sex chromosome disorders, most cases of ... As of 2004, the human nucleotide diversity was estimated to be 0.1% to 0.4% of base pairs. In 2015, the 1000 Genomes Project, ... According to a 2000 study of Y-chromosome sequence variation, human Y-chromosomes trace ancestry to Africa, and the descendants ... Long and Kittles find that rather than 85% of human genetic diversity existing in all human populations, about 100% of human ...
Meiosis involves the intimate pairing of homologous chromosomes and recombination between them. Examples of eukaryotic ... Main article: Human parasites. Some eukaryotic organisms, including a number of protozoa and helminths, are human parasites (i. ... Examples of viruses that undergo this process are herpes simplex virus, human immunodeficiency virus, and vaccinia virus.[9] ... This process involves pairing of homologous genomes and recombination between them by a process referred to as multiplicity ...
Paired box protein Pax-6, also known as aniridia type II protein (AN2) or oculorhombin, is a protein that in humans is encoded ... van Heyningen V, Little PF (1995). "Report of the fourth international workshop on human chromosome 11 mapping 1994". Cytogenet ... The characteristic paired DNA binding domain of Pax6 utilizes two DNA-binding domains, the paired domain (PD), and the paired- ... 6pax: CRYSTAL STRUCTURE OF THE HUMAN PAX-6 PAIRED DOMAIN-DNA COMPLEX REVEALS A GENERAL MODEL FOR PAX PROTEIN-DNA INTERACTIONS ...
Human Y chromosomeEdit. In humans, the Y chromosome spans about 58 million base pairs (the building blocks of DNA) and ... Stevens proposed that chromosomes always existed in pairs and that the Y chromosome was the pair of the X chromosome discovered ... Human Y-chromosome DNA haplogroup. The human Y chromosome is normally unable to recombine with the X chromosome, except for ... The DNA in the human Y chromosome is composed of about 59 million base pairs.[5] The Y chromosome is passed only from father to ...
... is from base pair 50,384,290 to base pair 50,418,018 on chromosome 19.[26] The mouse orthologue maps to mouse chromosome 7.[27] ... in human Homo sapiens Mus musculus Saccharomyces cerevisiae Schizosaccharomyces pombe A (catalytic) p125 POLD1-Chr 19q13.3 ... Table 1: Gene names and chromosomal locations for the various subunits of polymerase delta in human, mouse, budding and fission ... Figure 2: Conserved motifs in the exonuclease domain of human p125. Motifs I to III are conserved in the B-family of ...
In humans, most mammals, and some other species, two of the chromosomes, called the X chromosome and Y chromosome, code for sex ... Not all male-specific genes are located on the Y chromosome. Platypus, a monotreme, use five pairs of different XY chromosomes ... 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 ...
Isoform 1 of TEX9 has a 5' UTR region of 27 base pairs and a 3' UTR region of 356 base pairs. The transcript is 1,559 base ... Human) - TEX9 gene & protein". Retrieved 2019-02-08. "TEX9 - Antibodies - The Human Protein Atlas". www. ... TEX9 has been experimentally determined to have interactions including coiled-coil containing 112 (CCDC112), chromosome 20 open ... "Human BLAT Search". Retrieved 2019-04-21. "Genomatix: Login Page". Retrieved 2019-05-05. " ...
For example, in the human genome, which has a 42% GC content[3], a pair of nucleotides consisting of cytosine followed by ... Based on an extensive search on the complete sequences of human chromosomes 21 and 22, DNA regions greater than 500 bp were ... "Comprehensive analysis of CpG islands in human chromosomes 21 and 22". Proc Natl Acad Sci USA. 99 (6): 3740-5. doi:10.1073/pnas ... In humans, about 70% of promoters located near the transcription start site of a gene (proximal promoters) contain a CpG island ...
Karyotype of a human being, showing 22 pair of autosomal chromosomes and both the XX female and the XY male possibilities for ... As other non-human extant hominidae have 48 chromosomes it is believed that the human chromosome 2 is the end result of the ... Males have XY sex chromosomes and females have XX sex chromosomes. The sex chromosomes are the largest chromosomes and ... Shared synteny of human chromosome 17 loci in Canids. *An atlas of the chromosome numbers in animals (1951); PDF downloads of ...
2004). „) A census of human cancer genes. Nat Rev Cancer. 4:177-183. doi: 10.1038/nrc1299".. Mentenanță CS1: Nume multiple: ... Ye CJ, Liu G, Bremer SW, Heng HHQ (2007). „The dynamics of cancer chromosomes and genomes. Cytogenet Genome Res. 118 (2-4): 237 ... 2010). „The mutation spectrum revealed by paired genome sequences from a lung cancer patient. Nature 465 (7297): 473-7. doi: ... 2007). „Patterns of somatic mutation in human cancer genomes. Nature, 446(7132): 153-158".. Mentenanță CS1: Nume multiple: ...
As this karyotype displays, a diploid human cell contains 22 pairs of homologous chromosomes and 2 sex chromosomes.. Section ... chromosomes." For example, the number of homologous sets of chromosomes in humans is 23 if one considers a "set" to be one pair ... Number of homologous pairs[edit]. The introduction states: a typical human somatic cell contains [...] 23 homologous chromosome ... What about the X chromosome and Y chromosome in male humans? By the definition they do not belong to any homologous set, since ...
... so each human chromosome can be identified by a characteristic color using whole-chromosome probe mixtures and a variety of ... Each probe for the detection of mRNA and lncRNA is composed of 20 oligonucleotide pairs, each pair covering a space of 40-50 bp ... 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, ...
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. ...
The COX14 gene is located on the q arm of chromosome 12 at position 13.12 and it spans 8,476 base pairs. The COX14 gene ... Cytochrome c oxidase assembly factor COX14 is a protein that in humans is encoded by the COX14 gene. This gene encodes a small ... The knockdown of the protein COX14 involving small interfering RNA in regular human fibroblast has been shown to result in a ... "COX14 - Cytochrome c oxidase assembly protein COX14 - Homo sapiens (Human) - COX14 gene & protein". Retrieved 2018-08-07. This ...
This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by expanding it.. *v ... paired-like homeodomain 1 is a protein that in humans is encoded by the PITX1 gene.[5][6][7] ... maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft)". Genomics. 40 (1): 108-13. doi:10.1006/geno.1996.4558. PMID ... "Identification of PITX1 as a TERT suppressor gene located on human chromosome 5". Molecular and Cellular Biology. 31 (8): 1624- ...
For instance, in human reproduction each human cell contains 46 chromosomes in 23 pairs. Meiosis in the parents' gonads produce ... the resulting child will have 23 chromosomes from each parent genetically recombined into 23 chromosome pairs or 46 total. ... See also: Human reproduction. There are three extant kinds of mammals: monotremes, placentals and marsupials, all with internal ... Sexual reproduction is a kind of life cycle where generations alternate between cells with a single set of chromosomes (haploid ...
Unlike the autosomes, the human Y-chromosome does not recombine often with the X chromosome during meiosis, but is usually ... the Y chromosome is significantly longer at 60 million base pairs, and has a lower mutation rate. These features of the Y ... Initial sequencing (Karafet et al., 2008) of the human Y chromosome suggested that two most basal Y-chromosome lineages were ... "The Divergence of Neandertal and Modern Human Y Chromosomes". The American Journal of Human Genetics. 98 (4): 728-34. doi: ...
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. ...
The institute is also the first develop a test to detect chromosome translocations in human embryos to increase the success ... 2009 First Paired Kidney Exchange in New Jersey Performed, Family Health Magazine, Spring/Summer 2006 - accessed July 11, 2009 ... Human cloning is a long way off, but bioengineered kids are already here, Washington Monthly, March 2002 - accessed July 11, ... The division performed the first paired kidney exchange in New Jersey at Saint Barnabas Medical Center in 2005. Over time, it ...
They are usually found in pairs (diplococci) and do not form spores and are nonmotile.[2] As a significant human pathogenic ... For a bacterium to bind, take up, and recombine exogenous DNA into its chromosome, it must enter a special physiological state ... The genome of S. pneumoniae is a closed, circular DNA structure that contains between 2.0 and 2.1 million base pairs depending ... pneumoniae can be found in the human upper respiratory system. A study of competition in vitro revealed S. pneumoniae ...
When adenine is deaminated, it becomes hypoxanthine, which can pair with cytosine. During replication, the cytosine will pair ... 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 ... Chloroplast DNAs are circular, and are typically 120,000-170,000 base pairs long.[4][7][8] They can have a contour length of ...
... except that the sequences at these loci may differ between the two chromosomes in a matching pair and that a few chromosomes ... For organisms in which the male is heterogametic, such as humans, almost all X-linked genes are hemizygous in males with normal ... chromosomes because they have only one X chromosome and few of the same genes are on the Y chromosome. Transgenic mice ... 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 ... Members of this gene family typically encode proteins which contain a paired box domain, an octapeptide, and a paired-type ...
... is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6 (not to be ... 1 million base pairs centromeric from DQ2.5 may also be associated with Type 1 diabetes. In addition the BAT1 and MICB variant ... 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 ...
By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... "American Journal of Human Genetics. 64 (1): 225-31. doi:10.1086/302198. PMC 1377721. PMID 9915962.. ... Van Den Berghe, Pierre L (2010). "Human inbreeding avoidance: Culture in nature". Behavioral and Brain Sciences. 6: 91-102. doi ... HumansEdit. See also: Incest, Incest taboo, Pedigree collapse, and Cousin marriage ...
Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the PSEN1 gene.[5] Presenilin-1 is one of the four ... Kang DE, Soriano S, Xia X, Eberhart CG, De Strooper B, Zheng H, Koo EH (September 2002). "Presenilin couples the paired ... "Genetic linkage evidence for a familial Alzheimer's seasesease locus on chromosome 14". Science. 258 (5082): 668-71. Bibcode: ... Tanahashi H, Tabira T (February 1999). "Isolation of human delta-catenin and its binding specificity with presenilin 1". ...
... genome of MAP strain K-10 was sequenced in 2005 and found to consist of a single circular chromosome of 4,829,781 base pairs, ... It has long been suspected as a causative agent in Crohn's disease in humans,[4][5] but studies have been unable to show ... Recent studies have shown that MAP present in milk can survive pasteurization, which has raised human health concerns due to ... It is the causative agent of Johne's disease, which affects ruminants such as cattle, and suspected causative agent in human ...
Sigurdsson S, Van Komen S, Petukhova G, Sung P (Nov 2002). "Homologous DNA pairing by human recombination factors Rad51 and ... condensed chromosome. • nuclear chromosome, telomeric region. • nucleus. • nuclear chromatin. • lateral element. • cytosol. • ... nuclear chromosome. • mitochondrial matrix. • nucleolus. • mitochondrion. • perinuclear region of cytoplasm. • chromatin. • ... condensed nuclear chromosome. • macromolecular complex. Biological process. • regulation of protein phosphorylation. • strand ...
V. faba has a diploid (2n) chromosome number of 12 (six homologous pairs). Five pairs are acrocentric chromosomes and one pair ... It is of uncertain origin[1]:160 and widely cultivated as a crop for human consumption. It is also used as a cover crop, the ... In much of the English-speaking world, the name "broad bean" is used for the large-seeded cultivars grown for human food, while ... might frown on human consumption. But in Liguria, a maritime region near northern Italy, fava beans are loved raw, and consumed ...
... even though the fox genome has 16 pairs of metacentric autosomes and the dog has 37 pairs of acrocentric autosomes.[10] ... These were foxes that were eager to have human contact. By the 10th generation 18 percent of fox pups were in this "elite" ... Using 320 microsatellites Trut and co-workers showed that all 16 fox autosomes and one X chromosome were covered, and that ... Further, to help understand the neurobiology of behavior, fox and dog orthologs of serotonin receptor genes were cloned.[9] ...
... usually have a single circular chromosome,[129] with as many as 5,751,492 base pairs in Methanosarcina acetivorans,[130 ... making up about one in ten of all the prokaryotes in the human gut.[197] In termites and in humans, these methanogens may in ... Circular chromosomes, similar translation and transcription to Eukarya. Circular chromosomes, unique translation and ... after the cell's chromosome is replicated and the two daughter chromosomes separate, the cell divides.[154] In the genus ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... See also: Category:Genes on human chromosome 16.. The following is a partial list of genes on human chromosome 16. For complete ... "Chromosome 16". Genetics Home Reference. Retrieved 2017-05-06.. *. "Chromosome 16". Human Genome Project Information Archive ... Human chromosome 16 pair after G-banding.. One is from mother, one is from father. ...
... each human diploid cell (containing 23 pairs of chromosomes) has about 1.8 meters of DNA; wound on the histones, the diploid ... This involves the wrapping of DNA around nucleosomes with approximately 50 base pairs of DNA separating each pair of ... of the human genome in five human cell lines". Genome Research. 17 (6): 691-707. doi:10.1101/gr.5704207. PMC 1891331. PMID ... is a transcription factor which activates histone gene transcription on chromosomes 1 and 6 of human cells. NPAT is also a ...
Genetically, there are 74 diploid chromosomes (36 pairs). Appearance[edit]. The crab-eating fox is predominantly greyish-brown ... its habitat is slowly shrinking due to human activity such as agriculture, as well as feral dogs' encroachment on its territory ... The adult female gives birth to one or two litters per year, and the breeding pair is monogamous. The pair ranges the plains ... It either hunts individually or lives in pairs; it eats crabs, lizards and different flying animals. It is easy to domesticate ...
Likewise, gray wolf Y-chromosomes have also been found in a few individual male Texan coyotes.[11] This study suggested that ... By late 2012, it was estimated that there were at least 75 wolves and four breeding pairs living in the recovery areas, with 27 ... The Mexican wolf persisted longer in Mexico, as human settlement, ranching and predator removal came later than in the ... A pair of Mexican wolves with pups at Sevilleta Wolf Management Facility in Socorro, New Mexico ...
Pu'er with chrysanthemum is the most common pairing, and referred as guk pou or guk bou (菊普; Cantonese Yale: guk1 pou2; pinyin ... Larger specimens of this shape are sometimes called "human-head tea" (人頭茶), due in part to its size and shape, and because in ... This notion has recently been refuted through a systematic chromosome analysis of the species attributed to many East Asian ... Wild trees (gŭshù, 古树; literally "old tree"): Teas from old wild trees, grown without human intervention, are the highest ...
Crosland, M.W.J., Crozier, R.H. Myrmecia pilosula, an ant with only one pair of chromosomes. Science. 1986, 231 (4743): 1278. ... Ijdo, J. W., Baldini, A., Ward, D. C., Reeders, S. T., & Wells, R. A. Origin of human chromosome 2: an ancestral telomere- ... 選擇可以作用在基因而非個體的層級,即使降低個體的適應度,自私DNA仍然可以演化,造成基因組內部衝突。例子包括跳躍子、減數分裂驅動者(meiotic drivers)、殺手X染色體(killer X chromosomes)、自私粒線體(
Genes on human chromosome 11. *Genes on human chromosome 14. *Genes on human chromosome 20 ... In 1943, with the help of Arda Green, the pair illustrated that glycogen phosphorylase existed in either the a or b forms ... The cloning of the human liver glycogen phosphorylase (HLGP) revealed a new allosteric binding site near the subunit interface ... 9 (15): 1177-89. doi:10.2174/1381612033454919. PMID 12769745.. *^ Moller DE (Dec 2001). "New drug targets for type 2 diabetes ...
This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.. *v ... "Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for ... "AIDS Research and Human Retroviruses. 6 (3): 371-80. doi:10.1089/aid.1990.6.371. PMID 2187500.. ... Human GAA genome location and GAA gene details page in the UCSC Genome Browser. ...
HumansEdit. Humans are bilaterals and deuterostomes. In humans, the term embryo refers to the ball of dividing cells from the ... Pair-rule genes define 7 segments of the embryo within the confines of the second broad segment that was defined by the gap ... Thus, a fly whose chromosomes are mutant in both copies of the Bicoid gene but who is born from a mother carrying one normal ... As of today, human embryology is taught as a cornerstone subject in medical schools, as well as in biology and zoology programs ...
"MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice". ... Yi W, Wu X, Lee TH, Doggett NA, Her C (Jul 2005). "Two variants of MutS homolog hMSH5: prevalence in humans and effects on ... Her C, Wu X, Griswold MD, Zhou F (Feb 2003). "Human MutS homologue MSH4 physically interacts with von Hippel-Lindau tumor ... Räschle M, Dufner P, Marra G, Jiricny J (Jun 2002). "Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha ...
"A Y Chromosome Census of the British Isles" (PDF).. *^ Härke, Heinrich; Thomas, Mark G; Stumpf, Michael P H. "Integration ... ... The Acts of Union between the Kingdom of England and the Kingdom of Scotland were a pair of Parliamentary Acts passed by both ... "Y Chromosome Evidence for Anglo-Saxon Mass Migration".. *^ " ... 9 (11th ed.). Cambridge University Press. p. 511.. *^ a b c d ...
... chromosome translocation in a human leukemia T-cell line indicates that putative regulatory regions are not altered". Proc. ... 3.2) Paired box. PAX (1, 2, 3, 4, 5, 6, 7, 8, 9) ... to the human c-myc oncogene; presence of a long inverted repeat ... Astrin SM, Laurence J (1992). "Human immunodeficiency virus activates c-myc and Epstein-Barr virus in human B lymphocytes". Ann ... HMGB (1, 2, 3) • HNF (1A, 1B) • LEF1 • SOX (1, 2, 3, 4, 5, 6, 8, 9, 10, 11, 12, 13, 14, 15, 18, 21) • SRY • SSRP1 • TCF (3, 4) ...
"Final report on the human rights situation of the Roma, Sinti and travellers in Europe". The European Commissioner for Human ... "Y CHROMOSOME SINGLE NUCLEOTIDE POLYMORPHISMS TYPING BY SNaPshot MINISEQUENCING" (PDF). Retrieved 20 December 2016. ... and art present romanticized narratives of mystical powers of fortune telling or irascible or passionate temper paired with an ... European Journal of Human Genetics. 9 (2): 97-104. doi:10.1038/sj.ejhg.5200597. PMID 11313742. Archived from the original (PDF) ...
... a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in situ ... Paired box protein Pax-1 is a protein that in humans is encoded by the PAX1 gene. This gene is a member of the paired box (PAX ... 1989). "Conservation of the paired domain in metazoans and its structure in three isolated human genes". EMBO J. 8 (4): 1183-90 ... 2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-71. doi:10.1038/414865a. ...
Modern Human Origins, and Complex Disease Mapping, Annual Review of Genomics and Human Genetics" (pdf). 9. Retrieved December ... In the 2003 PBS programme African American Lives, Bishop T.D. Jakes had his DNA analyzed; his Y chromosome showed[dubious - ... Igbo women were paired with Coromantee (Akan) men to subdue the men because of the belief that the women were bound to their ... Institute for the Study of Human Issues.. *^ ". Chisholm, Hugh, ed. (1911). "Ibo". Encyclopædia Britannica. 14 (11th ed.). ...
Chromosome Mapping Chromosomes, Human, Pair 13 - genetics Chromosomes, Human, Pair 9 - genetics Genes, Recessive Genetic ... Chromosomes, Human, Pair 11 - genetics Chromosomes, Human, Pair 9 - genetics Female Finland Genetic markers Genetic ... Chromosome Mapping Chromosomes, Human, Pair 9 - genetics Comorbidity Genetic Linkage Genetic markers Genetic Predisposition to ... Chromosomes, Human, Pair 9 - genetics Cohort Studies DNA Mutational Analysis De ...
"Chromosomes, Human, Pair 9" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... This graph shows the total number of publications written about "Chromosomes, Human, Pair 9" by people in UAMS Profiles by year ... Below are the most recent publications written about "Chromosomes, Human, Pair 9" by people in Profiles over the past ten years ... A specific pair of GROUP C CHROMSOMES of the human chromosome classification. ...
Chromosomes, Human, Pair 11 / genetics* * Chromosomes, Human, Pair 9 / genetics * Cluster Analysis ... Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13 Nat Genet. 2001 Aug;28(4): ... within the 2.5-Mb interval flanked by markers D11S4076 and D11S480 on chromosome 11q13. Analysis of 20 additional families of ...
The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major ... Chromosomes, Human, Pair 9* * Female * Finland * Frontotemporal Dementia / genetics* * Genetic Predisposition to Disease ... A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD Neuron. 2011 Oct 20;72(2):257-68. ... The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major ...
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification. ... Human, Pair 3" by people in Harvard Catalyst Profiles by year, and whether "Chromosomes, Human, Pair 3" was a major or minor ... "Chromosomes, Human, Pair 3" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 3" by people in Profiles. ...
Chromosomes, Human, Pair 9 / genetics*. Coronary Artery Bypass / adverse effects*. Female. Genetic Variation*. Humans. Linkage ... identified an association between myocardial infarction in nonsurgical populations and common genetic variants on chromosome ...
We report 16 patients with the t(6;9), of whom 13 had AML, 2 had myelodysplastic syndrome (MDS), and 1 had chronic myeloid leuk ... 9) (p22;q34) is a rare but defined subset with a poor prognosis. ... Chromosomes, Human, Pair 9*. Female. Hematopoietic Stem Cell ... Humans. Karyotyping. Leukemia, Myeloid / genetics*. Male. Middle Aged. Mutation. Retrospective Studies. Translocation, Genetic* ... Next Document: Three rearrangements of chromosome 5 in a patient with myelodysplastic syndrome: an atypical deletio.... ...
This page shows the publications Kiran Musunuru has written about Chromosomes, Human, Pair 9. ... Association of single nucleotide polymorphisms on chromosome 9p21.3 with platelet reactivity: a potential mechanism for ... Circular non-coding RNA ANRIL modulates ribosomal RNA maturation and atherosclerosis in humans. Nat Commun. 2016 08 19; 7:12429 ...
No such thing as a transgender human. There are XX and XY pairs of sex chromosomes. All the rest is choice or mental illness. ... I realize that there is are extremely rare genetic situations where some sex chromosome abnormalities exists. 99.999999 of " ...
Humans have forty-six chromosomes, arranged in twenty-three pairs. But human egg and sperm cells only have twenty-three ... For example, most cells of fruit flies have eight chromosomes, arranged as four similar pairs. But the egg or sperm cells of a ... Paragraphs 4 to 9:. For the complete story with questions: click here for printable. Weekly Reading Books Create Weekly Reading ... Cells formed through meiosis have only half the number of chromosomes or genetic material of the parent cell. ...
... base pairs) and represents approximately 4.5 percent of the total DNA in cells. Learn about health implications of genetic ... Chromosome 9 is made up of about 141 million DNA building blocks ( ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 9, one copy inherited from ... Ensembl Human Map View. *Gilbert F, Kauff N. Disease genes and chromosomes: disease maps of the human genome. Chromosome 9. ...
time of replication of the X chromosome of Microtus agrestis. 7th International Congress of Human. Genetics, Part I.. 9. ... Jablonka E., and Lamb M.J. (1988) Meiotic pairing constraints and the activity of sex chromosomes.. Journal of Theoretical ... In: Human by Nature:. Between Biology and the Social Sciences (Eds: Weingart P., Mitchell S.D., Richerson P.J. and Maasen S.). ... In: Goren-Inbar, Naama, and John D. Speth (eds). (2004) Human Paleoecology in the Levantine Corridor. Oxford, England: Oxbow ...
The finished sequence of human chromosome 10 comprises a total of 131,666,441 base pairs. It represents 99.4% of the ... of mouse chromosome 13 showing conserved synteny with human chromosome 6p22.1-6p22.3/6p25. The human region is lost in some ... Chromosome 13 has one of the lowest gene densities (6.5 genes per Mb) among human chromosomes, and contains a central region of ... The Human and Vertebrate Annotation (HAVANA) group annotators at the Sanger center are using this to annotate human chromosomes ...
A human cell contains 23 pairs of chromosomes; however, FISH analysis allows accurate assessment of only 7-9 chromosomes in ... The chromosomes in the egg are less likely to divide properly, leading to an extra or missing chromosome in the embryo (see ... They are passed by an abnormal X chromosome and manifest in sons, who do not inherit the normal X chromosome from the father. ... Probes (ie, small pieces of DNA that are a match for the chromosomes being analyzed) bind to a particular chromosome. Each ...
... similarity of DNA between chimp and humans is incorrect. ... Humans have 23 pairs of chromosomes while chimpanzees have 24. ... While 18 pairs of chromosomes are virtually identical, chromosomes 4, 9 and 12 show evidence of being remodeled.5 In other ... Evolutionary scientists believe that one of the human chromosomes has been formed through the fusion of two small chromosomes ... The Y chromosome in particular is of a different size and has many markers that do not line up between the human and chimpanzee ...
Every chromosome pair had a least one rearrangement. No normal X chromosomes were observed and Y chromosomes were absent by QM ... This is a hyper-triploid human cell line with a modal chromosome number of 75. Homogeneously staining regions and dicentric ... No normal X chromosomes were observed and Y chromosomes were absent by QM staining. Normal copies of chromosomes 2,6,11,13,16 ... a chromosome break in 3/30, a chromatid break in 5/30, a ring chromosome in 1/30, and double minutes in 11/30 (1-5 copies). ...
Chromosomes, Human, Pair 22. en_US. dc.subject.mesh. Chromosomes, Human, Pair 9. en_US. ...
The human FABP1 gene is located on the short (p) arm of chromosome 2 from base pair 88,122,982 to base pair 88,128,131. FABP1 ... FABP1 is a human gene coding for the protein product FABP1 (Fatty Acid-Binding Protein 1). It is also frequently known as liver ... Chan L, Wei CF, Li WH, Yang CY, Ratner P, Pownall H, Gotto AM, Smith LC (March 1985). "Human liver fatty acid binding protein ... On exon 3 of the human FABP1 gene an Ala to Thr substitution has been identified leading to a T94A missense mutation. Carriers ...
Humans normally have 23 pairs of chromosomes, and an extra chromosome can have a tremendous negative impact. For example, there ... Mutational errors can extend to include more than just one base of a chromosome . Humans normally have 23 pairs of chromosomes ... Chromosomes pair up before separating, as eggs or sperm are formed, and the correct pairing depends on matching sequences ... In organisms with multiple chromosomes, DNA from one chromosome can be joined to another and the actual chromosome number can ...
Coloured light micrograph of a female karyotype (chromosome set) with one defective chromosome each from pairs 9 and 22. ... The 46 chromosomes of a human karyotype are here arranged in 23 pairs of a maternal and paternal chromosome. The left-hand ... Coloured light micrograph of a female karyotype (chromosome set) with one defective chromosome each from pairs 9 and 22. The ... on the right-hand chromosomes of the two pairs, cause chronic myelogenous leukaemia (CML). ...
European Journal of Human Genetics 7 , 783-790 Rights & permissionsfor article Psoriasis susceptibility locus in chromosome ... linkage analysis of Scandinavian affected sib-pairs supports presence of susceptibility loci for celiac disease on chromosomes ... European Journal of Human Genetics 13 , 617-622 Rights & permissionsfor article Mutations and sequence variation in the human ... European Journal of Human Genetics 9 , 938-944 Rights & permissionsfor article Genome-wide linkage analysis of Scandinavian ...
Murine Oscar is localized to chromosome 7, adjacent to a region where the paired Ig-like receptors family resides. The human ... OSCAR and human diseases. Knowledge about the role of OSCAR for human disease is limited to reports on skeletal and joint ... Structure-function relationship of human OSCAR. Human OSCAR contains two Ig-like motifs and one transmembrane domain, which ... Ligation of the FcR gamma chain-associated human osteoclast-associated receptor enhances the proinflammatory responses of human ...
We conclude that CDKN2A is a promising new candidate gene potentially contributing to AD susceptibility on chromosome 9p. ... Age of Onset; Aged; Aged, 80 and over; Alzheimer Disease; Chromosomes, Human, Pair 9; Family; Genes, p16; Genetic Linkage; ... We conclude that CDKN2A is a promising new candidate gene potentially contributing to AD susceptibility on chromosome 9p. ... Annals of Human Genetics, 72 (Pt 6). ...
Humans have 23… pairs of chromosomes andbananas 11 pairs - even if the 11 banana chromosomes were identicalto human ones ( ... They also have a different number of chromosomes. Humans have 23 pairs of chromosomes and dogs have 39 pairs. ... Humans and cats have similar x and y chromosomes and have the sameancestor from the past. Cats and humans share 90 percent ... What percentage of DNA do humans share with a cat? Cats and humans share similar X and Y chromosomes, in fact the two species ...
Chromosomes, Human, Pair 9/genetics. MESH. Female. MESH. Gene Deletion. MESH. Humans. MESH. ... Six out of 12 samples of microdissected normal urothelium also showed genetic alterations on chromosome 9. Microdissection of ... showed deletions of chromosome 9. In 7 out of 8 patients with genetic alterations in the hyperplasias the genetic change was ... in situ hybridization was done using a dual color staining technique of biotinylated centromeric probes of chromosomes 9 and 17 ...
Katoh M (August 2002). "Molecular cloning and characterization of OSR1 on human chromosome 2p24". International Journal of ... "Molecular analysis of odd-skipped, a zinc finger encoding segmentation gene with a novel pair-rule expression pattern". The ... Protein odd-skipped-related 1 is a transcription factor that in humans is encoded by the OSR1 gene.[5][6][7] The OSR1 and OSR2 ... A variant human OSR1 allele which does not produce a functional transcript and found in 6% of Caucasian populations, reduces ...
In human, the gene for adipose differentiation related protein is located at short p arm of chromosome 9 at region 22 band 1 ... from base pair 19108391 to 19127606 (GRCh38.p7) (map). The proposed models for adipose differentiation related protein ( ... In humans it is encoded by the ADFP gene. This protein surrounds the lipid droplet along with phospholipids and are involved in ... In humans, a substitution mutation at the C-terminal region of perlipin 2 was shown to affect both the structure and function ...
... which consists of 24 million base pairs of DNA is divided into 14 chromosomes- compared to 23 in the human genome. The Sanger ... These latest developments mean researchers now have a detailed insight into the DNA or "book of life" for humans, parasites and ... Experts estimate the equivalent of 45 million years of productive human life are lost annually through premature death and ... "Malaria not only imposes an appalling degree of human suffering - it also constitutes an obstacle to development itself." ...
1.Humans have 23 pairs of chromosomes while chimpanzees have 24. Evolutionary scientists believe that one of the human ... Humans are unique among primates with much shorter telomeres only 10 kilobases long.3. 3.While 18 pairs of chromosomes are ... If humans can find a way to use others to their advantage , they do. Religion is just one of the many ways in which humans ... The other animals or the humans? Certainly, most humans(myself included) clearly do. As for the others... we make the taxonomy ...
  • The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases. (
  • Identifying genes on each chromosome is an active area of genetic research. (
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (
  • Chromosome 9 likely contains 800 to 900 genes that provide instructions for making proteins. (
  • People with a 9q22.3 microdeletion are missing two to more than 270 genes on chromosome 9. (
  • Research shows that several genes that control cell growth and division are located on chromosome 9. (
  • 5 In other words, the genes and markers on these chromosomes are not in the same order in the human and chimpanzee. (
  • Stretches of DNA that hold coded instructions for the manufacture of specific proteins are known as genes, of which the human race has approximately 40,000 varieties. (
  • According to evolutionarybiologist Robert May, President of Britain's Royal Society, "Weshare half our genes with the banana" (2001), but genes only makeup 2% of human DNA - the answer depends on what proportion of theremaining 98% is the same. (
  • 3) The Y chromosome in chimpanzees is smaller than that of humans and only 60% of the genes are similar to those of the y chromosome of humans. (
  • In this review, in context of a comparison permitting to trace this evolutionary pathway, we consider the structural features of mammalian sex chromosomes focusing on the X-chromosomal genes and the unique epigenetic mechanism of their regulation. (
  • Possible causes and consequences of the genes escaping X inactivation and aspects of molecular mechanism of X-chromosome inactivation are discussed. (
  • We document that the expansion of Nat CS genes occurs as duplicated blocks distributed across 10 of the 19 poplar chromosomes, likely only as a result of segmental duplication events. (
  • The mouse genes for epidermal growth factor (EGF) and Tyk2 are encodedwithin the QTL on chromosomes 3 and 9, respectively. (
  • We examined 35 genes predicted to have their major influence on insulin action, and three (9%)- INSR , PIK3R1 , and SOS1 -showed significant associations with diabetes. (
  • [6] The human Y chromosome carries an estimated 100-200 genes, with between 45 and 73 of these protein-coding. (
  • All single-copy Y-linked genes are hemizygous (present on only one chromosome) except in cases of aneuploidy such as XYY syndrome or XXYY syndrome . (
  • The Y chromosomes of humans and other mammals also contain other genes needed for normal sperm production. (
  • Over time, genes that were beneficial for males and harmful to (or had no effect on) females either developed on the Y chromosome or were acquired through the process of translocation . (
  • So, genes are found on DNA which is found in chromosomes. (
  • Background and Purpose- Recently independent studies reported an association between coronary heart disease and single-nucleotide polymorphisms (SNPs) located at chromosome 9p21, near CDKN2A and CDKN2B genes. (
  • The identification of genetic alterations and variations in RA (involving either the major histocompatibility complex (MHC) or non-MHC genes) and an understanding of their functional consequences may impact the diagnosis, therapy, and prevention of RA [ 1 ], an autoimmune disease that affects approximately 1% of the human population. (
  • At one point in the cell's life, its chromosomes become untangled and open up to expose their genes. (
  • Chromosome changes like these can cause oncogenes to be turned on or tumor suppressor genes turned off. (
  • Here we have attempted to address this question in pairs of non-invasive and invasive human bladder tumors using a combination of technology that included comparative genomic hybridization, high density oligonucleotide array-based monitoring of transcript levels (5600 genes), and high resolution two-dimensional gel electrophoresis. (
  • These chromosomes hold the DNA that contains the instructions (genes) that control the cells in your body. (
  • Genes from chromosome 9 combine with genes from chromosome 22 to create a new gene called BCR-ABL. (
  • Mutations in the genes associated with the establishment and function of nodal cilia are one of the genetic causes of human LR asymmetry disorders ( 4 , 12 ). (
  • No less than 69 genes have been reported to be associated with human LR asymmetry disorders ( 5 , 13-22 ). (
  • One of two chromosomes, the X and Y chromosomes, that determine sex in humans and that carry the genes for sex-linked characteristics. (
  • The human X chromosome, sequenced in 2005, has approximately 1100 genes. (
  • How many genes do humans have? (
  • Contain distinct DNA (containing 37 known genes) not associated with chromosomes. (
  • These genes are lined up in chromosomes. (
  • Analysis of chromosome 1 alleles for several genes in an interspecific cross between Mus spretus and C3H HeJ- gld gld mice indicates that glutaminase can be positioned within 5.5 ± 2.0 cM proximal to Ctla-4. (
  • These 100,000 genes are sited across 23 pairs of chromosomes. (
  • The first chromosome, for example, contains our oldest genes, genes which we have in common with plants. (
  • Everything that makes us human can be read in our genes. (
  • Our comparative analysis was then used to identify two X-linked genes that may escape MSCI in spermatocytes, and 21 that are specifically re-activated in spermatids of human, mouse and dog. (
  • Although traditional human genetic analysis has been limited in identifying causative genes for complex disorders, mutational screens in animals can provide insights into disease etiology. (
  • A recent genome-wide association study identified an association between myocardial infarction in nonsurgical populations and common genetic variants on chromosome 9p21. (
  • Since then, ten members of the FABP family have been identified on the human genome. (
  • In a separate project, an international consortium of researchers has sequenced the genome of the Anopheles gambiae mosquito*, which transmits the parasite to humans. (
  • The draft human genome was published by an international consortium in February 2001. (
  • 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 . (
  • 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. (
  • The Institute for Genome Research (TIGR) sequenced 2, 10, 11 and 14 : Stanford sequenced chromosome 12. (
  • Although genome-wide investigation and characterization of Nat catalytic subunits (CS) and auxiliary subunits (AS) have been conducted in yeast and humans they remain unexplored in plants. (
  • With a 30% difference between humans and chimpanzees, the Y chromosome is one of the fastest-evolving parts of the human genome . (
  • Duplicated chromosome segments suggest that a genome duplication occurred in ray-fin phylogeny, and comparative studies suggest that this event happened deep in the ancestry of teleost fish. (
  • Despite genome duplication, zebrafish and humans have about the same number of chromosomes, and zebrafish chromosomes are mosaically orthologous to several human chromosomes. (
  • To do this we analyzed data from our recently completed first stage of a whole genome analysis of IS that used more than 400 000 single-nucleotide polymorphisms (SNPs) from Illumina Infinium Human-1 and HumanHap300 assays, on a cohort of 249 samples with ischemic stroke (IS) and 268 controls. (
  • This paper compares corresponding non-MHC genomic regions identified in rodent and human genome-wide association studies (GWAS). (
  • 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 ]. (
  • We used whole human genome microarray data of 68 well characterized GIST and LMS samples to identify a simple gene expression classifier that would differentiate these tumor types with high accuracy. (
  • Human genome sequencing is the process by which the exact order of nucleic acid base pairs in the 24 human chromosomes is determined. (
  • Since the completion of the Human Genome Project in 2003, genomic sequencing is rapidly becoming a major part of our translational research efforts to understand and improve human health and disease. (
  • It has also had its genome sequenced, primarily to derive data in comparison to its relative Bordetella pertussis, which causes whooping cough in humans. (
  • Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination. (
  • Recurrent rearrangements of the human genome resulting in disease or variation are mainly mediated by non-allelic homologous recombination (NAHR) between low-copy repeats. (
  • We hypothesized that HERV elements throughout the genome can serve as substrates for genomic instability and result in human copy-number variation (CNV). (
  • We used these parameters to identify HERV pairs genome-wide that may cause instability. (
  • Our analysis highlighted 170 pairs, flanking 12.1% of the genome. (
  • This predicted susceptibility, genome-wide, is considerably more than the 9% predicted by Sharp et al. (
  • Aneuploidy is a common feature of most human cancers ( 1 ), but little is known about the genome-wide effect of this phenomenon at both the transcription and translation levels. (
  • In this investigation we have combined genome-wide technology for detecting genomic gains and losses (CGH) with gene expression profiling techniques (microarrays and proteomics) to determine the effect of gene copy number on transcript and protein levels in pairs of non-invasive and invasive human bladder TCCs. (
  • The genome is the collective recipe for the building and running of the human body. (
  • To gain more insight into the regulation and significance of MSCI and PSCR among different eutherian species, we have performed a global analysis of XY pairing dynamics, DSB repair, MSCI and PSCR in the domestic dog ( Canis lupus familiaris ), for which the complete genome sequence has recently become available, allowing a thorough comparative analyses. (
  • Here, choosing a DNA sample from a population of interest due to its relative geographical isolation and genetic impact on further populations, we extend the above studies through the generation of 11-fold coverage of the first Irish human genome sequence. (
  • This analysis has implications for future re-sequencing studies and validates the imputation of Irish haplotypes using data from the current Human Genome Diversity Cell Line Panel (HGDP-CEPH). (
  • Our findings show that there remains utility in generating whole genome sequences to illustrate both general principles and reveal specific instances of human biology. (
  • The two versions of the human genome published in 2001, while both seminal achievements, were mosaic renderings of a number of individual genomes. (
  • The structure and sequence of the genome across human populations is highly variable, and generation of entire genome sequences from a number of individuals from a variety of geographical backgrounds will be required for a comprehensive assessment of genetic variation. (
  • Do patterns of genome change help to describe the range of physical disparity between these various species pairs? (
  • The answer is a resounding no: the physically most similar pair, the nematodes, shows the most differences in terms of rate of genome evolution ( Fig. 1 ). (
  • The translocation involved in this condition, written as t(9;22), fuses part of the ABL1 gene from chromosome 9 with part of the BCR gene from chromosome 22, creating an abnormal fusion gene called BCR-ABL1 . (
  • The abnormal chromosome 22, containing a piece of chromosome 9 and the fusion gene, is commonly called the Philadelphia chromosome. (
  • FABP1 is a human gene coding for the protein product FABP1 (Fatty Acid-Binding Protein 1). (
  • The human FABP1 gene is located on the short (p) arm of chromosome 2 from base pair 88,122,982 to base pair 88,128,131. (
  • On exon 3 of the human FABP1 gene an Ala to Thr substitution has been identified leading to a T94A missense mutation. (
  • In humans it is encoded by the ADFP gene. (
  • In human, the gene for adipose differentiation related protein is located at short p arm of chromosome 9 at region 22 band 1 from base pair 19108391 to 19127606 (GRCh38.p7) (map). (
  • We conclude that CDKN2A is a promising new candidate gene potentially contributing to AD susceptibility on chromosome 9p. (
  • 2010. Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content. (
  • Fluorescence in situ hybridization was done using a dual color staining technique of biotinylated centromeric probes of chromosomes 9 and 17 and digoxigenin-labeled gene-specific P1 probes for chromosomes 9q22 (FACC), 9p21(p16/CDKI2), and 17p13(p53). (
  • Protein odd-skipped-related 1 is a transcription factor that in humans is encoded by the OSR1 gene . (
  • This SSR is used to exclude COL5A1 as a candidate gene in hereditary hemorrhagic telangiectasia (Osler-Rendu-Weber disease) and to add COL5A1 to the existing map of "index" markers of chromosome 9 by evaluation of the COL5A1 locus on the CEPH 40-family reference pedigree set. (
  • In mammals, the Y chromosome contains the gene SRY , which triggers male development. (
  • In mammals, the Y chromosome contains a gene, SRY , which triggers embryonic development as a male. (
  • for example, to cut out a gene that has an erroneous base pair. (
  • Gene maps showed that blocks of conserved syntenies between zebrafish and humans were large, but gene orders were frequently inverted and transposed. (
  • Consideration of duplicate chromosome segments shows that at least 20% of duplicated gene pairs may be retained from this event. (
  • This finding suggests that in general, CTCF binding is not subject to global dosage compensation, the process which equalizes gene expression levels from the two female X chromosomes and the single male X. (
  • Gene loci for BFNC have been mapped to chromosome 20q13.3 ( 3 ) and to chromosome 8q24 ( 4 ). (
  • The KVLQT1 potassium channel gene will be renamed KCNQ1 ( 9 ), and we name the present homolog KCNQ2 . (
  • We chose to use a supervised top scoring pair (TSP) analysis ( 13 , 14 ), which finds pairs where the relative expression of a gene pair is reversed between the two cancers. (
  • It is believed to have 5,007 coding sequences with an average gene size of 978 base pairs. (
  • The terms chromosome and gene were used long before biologists really understood what these structures were. (
  • The Watson and Crick discovery made it possible to express biological concepts (such as the gene) and structures (such as the chromosome) in concrete chemical terms. (
  • Recent research has found that about 9 times out of 10, WM cells have a mutation (change) in a gene known as MYD88 , which normally helps immune system cells signal each other and helps keep them alive. (
  • Lastly, we performed targeted RNA sequencing (RNAseq) using a custom bladder cancer panel, which confirmed gene expression signature differences between paired non-invasive/invasive components. (
  • Second, the abnormal chromosome creates a new gene. (
  • The Philadelphia chromosome creates a new gene. (
  • The protein caused by the BCR-ABL gene causes too many white blood cells and most or all of these contain the abnormal Philadelphia chromosome. (
  • Specialized tests, such as fluorescence in situ hybridization (FISH) analysis and polymerase chain reaction (PCR) test, analyze blood or bone marrow samples for the presence of the Philadelphia chromosome or the BCR-ABL gene. (
  • The findings of our study extend the mutational spectrum of the CCDC114 gene, and contribute to clarifying the pathogenesis of human ciliopathies and benefit genetic counseling. (
  • For the human, establishment of MSCI and PSCR have also been reported, but X-linked gene silencing appears to be more variable compared to mouse. (
  • The example shows an exonic STR region located in the nestin ( NES ) gene on chromosome 1. (
  • The Int6 gene has been highly conserved through evolution, from fission yeast to humans, with the intriguing exception of budding yeasts that have a related protein called Pci8p ( 4 ). (
  • Finally, we identify gene duplication events as constituting significant targets of recent positive selection in the human lineage. (
  • The condition is much less common in women than in men, since women have two "X" chromosomes, and it is highly unlikely that both of them will have the hemophilia gene. (
  • Post GR, Holloman D, Christiansen L, Smith J, Stuart R, Lazarchick J. Translocation t(3;8;9)(p25;p21;q34) in a patient with features of 8p11 myeloproliferative syndrome: a unique case and review of the literature. (
  • A rearrangement (translocation) of genetic material between chromosomes 9 and 22 causes a type of cancer of blood-forming cells called chronic myeloid leukemia. (
  • Nor is an extra chromosome the only chromosomal abnormality that causes problems: if chromosomes 9 and 22 exchange materials, a phenomenon known as translocation, the result can be a certain type of leukemia. (
  • A genomic analysis indicated that NPC1-MELK arose from a complex interchromosomal translocation event involving chromosomes 18, 3, and 9 with 3 rearrangement points, and this was consistent with chromoplexy. (
  • In a translocation, a piece of one chromosome becomes attached to a different chromosome. (
  • An abnormal chromosome 22 in which there is translocation of the distal portion of its long arm to chromosome 9. (
  • 1 The Philadelphia chromosome is defined as translocation of chromosome 9 and 22, 2 and this structural chromosomal change provided new insight into the pathogenesis of leukaemia. (
  • Common genetic variants on chromosome 9p21 predict perioperative myocardial injury after coronary artery bypass graft surgery. (
  • Recently, independent studies have reported an association between myocardial infarction (MI) and common genetic variation on chromosome 9p21. (
  • Single nucleotide polymorphisms (SNPs) on chromosome 9p21 are associated with coronary artery disease, diabetes, and multiple cancers. (
  • These were the t(9;22) in the patient with CML and deletion 9q, addition 13q, and an isochromosome 8q in the other three patients. (
  • the largest reported deletion included 20.5 million base pairs (20.5 Mb). (
  • Many cases of NMIBC tumors have a chromosome 9 deletion, which typically occurs early in tumor formation. (
  • Chromosome 9, Partial Monosomy 9p is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of the 9th chromosome. (
  • The most common chromosome defect seen in WM is a deletion of part of chromosome 6. (
  • Chromosome 9 is made up of about 141 million DNA building blocks (base pairs) and represents approximately 4.5 percent of the total DNA in cells. (
  • Affected individuals are missing at least 352,000 base pairs, also written as 352 kilobases (kb), in the q22.3 region of chromosome 9. (
  • Chimpanzees and other apes have about 23 kilobases (a kilobase is 1,000 base pairs of DNA) of repeats. (
  • 1000 base pairs long. (
  • Surprisingly, the indels added an additional 3.4 % of base pairs that were different. (
  • Human telomeres are programmed to lose ∼100 base pairs (bp) per population doubling (PD), resulting in senescence after ∼50 PDs ( 2-4 ). (
  • The DNA in the human Y chromosome is composed of about 59 million base pairs . (
  • A: The 3-plus billion nucleic acid base pairs of human DNA, coded on 46 chromosomes, are the hereditary map that encodes production and control of 20,000-plus necessary proteins. (
  • Many genetic mutations in these base pairs that contribute to the development of certain diseases have been identified. (
  • If/when the same type of virus later attacks, this bacterium uses this stored information to produce a protective virus-specific enzyme (called Cas9) designed to destroy the virus' specific sequence of base pairs. (
  • Bordetella bronchiseptica has a circular chromosome consisting of approximately 5,338,400 base pairs. (
  • How many base pairs of DNA do humans have in each somatic cell of our bodies? (
  • AT in ATATATATAT) is repeated at least three times, (3) there are only few base pairs that do not match the periodic motif (see Methods). (
  • In humans, a substitution mutation at the C-terminal region of perlipin 2 was shown to affect both the structure and function of the protein. (
  • Thus, mutation in perlipin 2 may influence the development of different metabolic diseases in human. (
  • Using entry to the Americas as a calibration point, we estimate a mutation rate of 0.82 × 10−9 per base pair (bp) per year [95% confidence interval (CI): 0.72 × 10−9 to 0.92 × 10−9/bp/year] (table S3). (
  • Down syndrome is a mutation of a certain chromosome that humans have. (
  • The sequence of chromosome 21 was a turning point for the understanding of Down syndrome. (
  • TRF2 is a sequence-specific DNA binding protein that binds to the duplex array of TTAGGG repeats at human telomeres and protects chromosome ends from end-to-end fusion ( 14-17 ). (
  • Considering that our analysis focused on approximately 8.97 Mbp of sequence from the Y chromosome X-degenerated region, this rate is equivalent to 0.53 × 10−9 bp−1 year−1. (
  • A segment of DNA is defined as STR if (1) the minimum length is 9 bp, (2) a sequence motif (e.g. (
  • With the completion of the sequence to the last base pair (all 100,258,171 of them 4 ) in late 2002, these numbers have grown respectively to around 21,000 and 3,000. (
  • Association of single nucleotide polymorphisms on chromosome 9p21.3 with platelet reactivity: a potential mechanism for increased vascular disease. (
  • The human body has nearly 1013 cells. (
  • Each cell (except for red blood cells) contains a nucleus that houses these chromosomes. (
  • Cells formed through meiosis have only half the number of chromosomes or genetic material of the parent cell. (
  • For example, most cells of fruit flies have eight chromosomes, arranged as four similar pairs. (
  • But the egg or sperm cells of a fruit fly have only four chromosomes. (
  • But human egg and sperm cells only have twenty-three chromosomes. (
  • In humans, OSCAR is expressed by macrophages, monocytes, and monocyte-derived dendritic cells and modulates the response of the innate and adaptive immune systems by promoting cell activation and maturation, Ag presentation, and proinflammatory circuits. (
  • While normal cells contain 46 chromosomes, 23 pairs, gamete cells only contain 23 chromosomes, and it is when these two cells merge into one zygote cell that genetic recombination occurs and the new zygote contains 23 chromosomes from each parent, giving them 23 pairs. (
  • This paper will examine the moral status of the human embryo especially focusing on the current issue of dismembering them to obtain embryonic stem (ES) cells. (
  • Any remaining cells will not become a human. (
  • Perhaps one could catch the embryo before it reaches a stage of being judged human and then take the ES cells without any concern. (
  • Primary human cells in culture invariably stop dividing and enter a state of growth arrest called replicative senescence. (
  • Replicative senescence of human cells occurs as a consequence of the progressive shortening of the TTAGGG repeat tracts at chromosome ends ( 1 ). (
  • The data presented here argue against this view and suggest that the main event heralding the end of the replicative life of primary human cells is a failure in the protective function of critically shortened telomeres. (
  • Retroviral-mediated overexpression of TRF2 in primary human IMR90 fibroblasts ( 19 ) resulted in accelerated telomere shortening ( Fig. 1 , A and B). Although IMR90 cells normally lose telomeric DNA at a rate of 99 to 112 bp per end per PD, TRF2 accelerated telomere attrition by 50 to 80%, from 165 to 181 bp per end per PD ( Fig. 1 B) ( Table 1 ). (
  • The modal chromosome number is 57 although cells with 58 chromosomes occurred with a comparable frequency. (
  • Seven marker chromosomes, der(9)t(1;9)(q21;p24), der(9)t(7;9)(p11;p22), t(10q14q), der(16)t(7;16)(q11.23;q22), a small ring (about 1/2 the size of a G chromosome) and two others, were common to all cells. (
  • Cells that have 2 copies of each chromosome- All cells (except gametes) have 2 copies of each of the 23 chrom. (
  • Normal human reproductive cells have 23 chromosomes. (
  • A chromosome is a structure that occurs within cells and that contains the cell's genetic material. (
  • In prokaryotes, or cells without a nucleus, the chromosome is merely a circle of DNA. (
  • In eukaryotes, or cells with a distinct nucleus, chromosomes are much more complex in structure. (
  • In some WM cells, a piece of a chromosome is missing. (
  • Human cells normally contain 23 pairs of chromosomes. (
  • In people with chronic myelogenous leukemia , the chromosomes in the blood cells swap sections with each other. (
  • The Philadelphia chromosome is present in the blood cells of 90 percent of people with CML. (
  • For humans, the diploid number is 46 (23 pairs in all somatic cells). (
  • The male-determining member of a pair of human chromosomes (XY) present in the somatic cells of all male humans. (
  • Each organism of a species is normally characterized by the same number of chromosomes in its somatic cells, 46 being the number normally present in humans, including 22 pairs of autosomes and the two sex chromosomes (XX or XY), which determine the sex of the organism. (
  • A condition known as mosaicism results from an error in the distribution of chromosomes between daughter cells during an early embryonic cell division, producing two and sometimes three populations of cells with different chromosome numbers in the same individual. (
  • We estimate that in normal human cells ≈1% of single-strand lesions are converted to ≈50 EDSBs per cell per cell cycle. (
  • Rates of Production of DSBs in Human Cells. (
  • Normal cells grown in vitro display very little evidence of phenomena commonly associated with DSBs, namely, chromosome and chromatid breaks, large deletions, and rearrangements. (
  • In the first meiotic division, homologous chromosomes need to segregate faithfully, to generate two daughter cells that both carry a haploid set of chromosomes. (
  • Normal human somatic cells have 23 pairs of chromosomes. (
  • Human cells with a chromosome number different from 46 or with an abnormal complement of chromosomes that add up to 46 are aneuploid. (
  • This imbalance of chromosome number may be in germ cells or somatic cells. (
  • Cells with less than a diploid chromosome content are referred to as having hypodiploid aneuploidy. (
  • Cells with more than a diploid but less than a tetraploid complement of chromosomes are referred to as having hyperdiploid aneuploidy. (
  • The DNA index of a tumour indicates the degree of aneuploidy and it is calculated as modal number of chromosomes of the tumour population divided by the reference number of chromosomes of the normal diploid cells. (
  • Zakian, S. 2004-10-19 00:00:00 The X and Y chromosomes of mammals, which significantly differ in structure and genetic composition, are thought to originate from a pair of autosomes. (
  • The X and Y chromosomes are thought to have evolved from a pair of identical chromosomes, [10] [11] termed autosomes , when an ancestral animal developed an allelic variation, a so-called "sex locus" - simply possessing this allele caused the organism to be male. (
  • Of these, 22 are autosomes and one is the sex chromosome (X or Y). At fertilization, the chromosomes from the sperm unite with the chromosomes from the ovum. (
  • Chromosome 3q arm gain linked to immunotherapy response in advanced cutaneous squamous cell carcinoma. (
  • however, the invasive carcinoma component uniquely showed focal CDKN2A loss and chromosome 9 LOH and did not harbor gains of chromosomes 5p or X that were present in the other tumor samples. (
  • Humans normally have 23 pairs of chromosomes, and an extra chromosome can have a tremendous negative impact. (
  • an extra CHROMOSOME (supernumerary) above the normal number for the SPECIES . (
  • They could be 'mentally retarded', but they wouldn't have Down's, as it is a specific condition caused by an extra chromosome 21, which is only a human chromosome. (
  • By contrast, inactive chromosomal regions can be cytogenetically detected by a simple trypsin-Giemsa technique or 4′, 6-diamino-2-phenylindole dihydrochloride (DAPI) staining, which can produce the differential bands called G-bands on the basis of different chromosome structures. (
  • We identified a new disease locus, designated BSCL2, within the 2.5-Mb interval flanked by markers D11S4076 and D11S480 on chromosome 11q13. (
  • Interestingly, we have also identified ( 10 ) another KCNQ homolog ( KCNQ3 ) on human chromosome 8q24 close to the second locus ( 4 ) for BFNC. (
  • We have systematically measured the effect of normal genetic variation present in a human population on the binding of a specific chromatin protein (CTCF) to DNA by measuring its binding in 51 human cell lines. (
  • Nucleolar expansion due to abnormal increases in polyamines could disrupt nearby chromatin, such as the inactive X chromosome, leading to expression of previously sequestered DNA. (
  • In the hypothesis it was proposed that enlargement of the nucleolus in response to cellular stress could disrupt neighboring chromatin, such as the inactive X chromosome. (
  • The large-scale chromatin organization of the major histocompatibility complex and other regions of chromosome 6 was studied by three-dimensional image analysis in human cell types with major differences in transcriptional activity. (
  • Large chromatin loops containing several megabases of DNA were observed extending outwards from the surface of the domain defined by the specific chromosome 6 paint. (
  • During evolution of sex chromosomes in placental mammals, the degradation of the Y chromosome and inactivation spreading along the X chromosome occurred gradually and in concert. (
  • A number of hypotheses are considered on evolutionary relationships of X-chromosome inactivation and other molecular processes in mammals. (
  • Asynapsis of these arms and the persistent DSBs then trigger transcriptional silencing through meiotic sex chromosome inactivation (MSCI), resulting in formation of the XY body. (
  • A QTL analysis was performed to identify genetic loci that differentially regulate CNS repair following chronic demyelination in these strains and two QTL were detected: one on chromosome 3 with a LOD score of 9.3 and a second on chromosome 9 with a LOD score of 14.0. (
  • Benign familial neonatal convulsions (BFNC) is an autosomal dominant epilepsy of infancy, with loci mapped to human chromosomes 20q13.3 and 8q24. (
  • 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. (
  • A chromosome specially stained to delineate bands of various widths on its regions or loci. (
  • Recent studies generating complete human sequences from Asian, African and European subgroups have revealed population-specific variation and disease susceptibility loci. (
  • Percentage of each chromosome consisting of potential HERV susceptibility regions. (
  • The 170 overlapping pairs that we predicted can be condensed into 70 susceptibility regions (Figure 1, purple bars). (
  • Chromosome 19 was determined to have the largest fraction of reference sequences within susceptibility regions as a percentage of chromosome length (Figure 2). (
  • Our study suggests that modulation of ANRIL expression mediates susceptibility to several important human diseases. (
  • Subsequently, stable associations form through homologous chromosome synapsis. (
  • Combine to make a diploid cell (n+ n =2n) -"fertilized egg" Examples of chromosome counts in other organisms Organism n (haploid number) 2n (diploid number) Humans 23 46 Gorillas 24 48 Dogs 39 78 Shrimp 127 254 Sweet potatoes 45 90 # of chrom. (
  • SNPs associated with disease in the chromosome 9p21.3 region. (
  • Comparative genomics is beginning to identify the functional components of the chromosome and that in turn will set the stage for the functional characterization of the sequences. (
  • At the end of each chromosome is a string of repeating DNA sequences called a telomere. (
  • Divergence between samples of chimpanzee and human DNA sequences is 5% counting indels. (
  • Most of the 10 2.4x10 9 possible sequences of nucleotides would lead to complete biological malfunction (Sagan, 1997, 22:967, emp. (
  • 1996 ). Evolutionary dynamics of non-coding sequences within the class II region of the human MHC. (
  • Currently, six types of Nats (NatA-F) complexes conserved from yeast to humans are responsible for these Nα-acetylation events: each of the three major Nats, NatA, NatB and NatC contain a catalytic subunit, and one or two auxiliary subunits, whereas NatD, NatE and NatF are composed of only one catalytic subunit [ 8 , 9 ]. (
  • Other studies conducted on the fission yeast Saccharomyces pombe have shown that yin6, the yeast Int6 homologue, positively regulates the 26S proteasome by binding to and mediating the nuclear import and assembly of a proteasome regulatory subunit, Rpn5 ( 9 ). (
  • Deletions of part or all of chromosome 9 are commonly found in bladder cancer. (
  • Ten of 14 hyperplasias (70%) showed deletions of chromosome 9. (
  • Notably, recurrent deletions of Yq12 conveying azoospermia, as well as non-pathogenic reciprocal duplications, are mediated by human endogenous retroviral elements (HERVs). (
  • Every chromosome pair had a least one rearrangement. (
  • I think human people should get more deference than ones from other species, and that is how it generally happens in society. (
  • The sperm may contribute an X or a Y chromosome. (
  • Harry Klinefelter who published first a report on 9 men with enlarged breasts, little facial and body hair, small testes, and inability to produce sperm (Klinefelter et al, 1942). (
  • 6. Jablonka E. , Goitein R., Marcus M., and Cedar H. (1985) DNA hypomethylation causes an increase in DNase-I sensitivity and an advance in the time of replication of the entire inactive X chromosome. (
  • This is a hyper-triploid human cell line with a modal chromosome number of 75. (
  • Chromosomes, Human, Pair 9" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (
  • In human bladder tumors, karyotyping, fluorescent in situ hybridization, and comparative genomic hybridization (CGH) 1 have revealed chromosomal aberrations that seem to be characteristic of certain stages of disease progression. (
  • Individual genomic regions showed distinct configurations in relation to the chromosome 6 terrritory. (
  • Nevertheless, it has been clear for some time that sequencing additional representative genomes would be needed for a more complete understanding of genomic variation and its relationship to human biology. (
  • FABP1 is expressed abundantly in the human liver where it accounts for 7-11% of the total cytosolic protein, and can also be found in the intestine, kidney, pancreas stomach and lung. (
  • Thus Kurzweil fights a war against a protein-based machine-the human body-whose basic design is about to become obsolete. (
  • Recent studies indicate that Int6 is a multifaceted protein involved in the regulation of protein translation and degradation through binding with three complexes: the eukaryotic translation initiation factor 3, the proteasome regulatory lid, and the constitutive photomorphogenesis 9 signalosome. (
  • Indeed, Int6 seems a multifaceted protein in that through its proteasome/constitutive photomorphogenesis 9 signalosome/eIF3 domain, it can bind not only the eIF3 and the proteasome regulatory lid but also the constitutive photomorphogenesis 9 signalosome, which is best known for its role in plants to regulate photomorphogenesis ( 10 - 12 ). (
  • Mouse GWAS appear to be far ahead of rat studies, and significantly more mouse QTLs correspond to human RA risk alleles. (
  • Humans have 23 pairs of chromosomes while chimpanzees have 24. (
  • The Britten 9 study looked at 779 kilobase pairs to carefully examine differences between chimpanzees and humans. (
  • What percentage of DNA do humans and chimpanzees share? (
  • One Perspective Although it has commonly been stated in the past that humans and chimpanzees have 98.5% DNA similarity, this figure has recently been found to be incorrect. (
  • Newer research has suggested that there is approximately 96% genetic similarity between Humans and chimpanzees overall. (
  • Specifically, 18 of the chromosomes of humans are nearly identical to those of chimpanzees, the rest are very different (eg: chromosomes 4, 9, 12, 21, and y). (
  • Some specific examples of differences include: 1) Humans have 23 pairs of chromosomes in total while chimpanzees have 24. (
  • 2) Chimpanzees and other apes have telomeres about 23 kilobases long, whereas humans are completely unique among primates with much shorter telomeres only 10 kilobases long. (
  • The online version of this article ( ) contains supplementary material, which is available to authorized users. (
  • Segregation of rat and mouse chromosomes among somatic cell hybrids indicated assignment to rat chromosome 9 and mouse chromosome 1. (
  • Similarly, human-hamster somatic cell hybrids were examined for RFLPs, and four human EcoRI restriction fragments were found to hybridize with the rat glutaminase probe. (
  • By contrast, heterochromatin enriched with H3K9me3, including mouse chromosomal G-bands, pericentric repeats, human satellite 2 and 3, and inactive X chromosomes, was not enriched with 5hmC. (
  • Today we know that a chromosome contains a single molecule of DNA along with several kinds of proteins. (
  • For instance, there are about three times more synonymous substitutions ('silent' base-pair changes that do not affect encoded proteins) between the two nematodes than there are between mice and humans. (
  • Internal organs of the human and other vertebrates exhibit a highly conserved left-right (LR) asymmetry arrangement which is the base for their function and position ( 1 , 2 ). (
  • The Y chromosome in particular is of a different size and has many markers that do not line up between the human and chimpanzee. (
  • At least 45 distinct derivative chromosomes were detected in most metaphases, including two large metacentric markers which are approximately 1.5 times longer than a normal A group chromosome. (
  • The markers, t(7;9) and t(7;16) were mostly paired. (
  • In addition to PAR synapsis between X and Y, we observed extensive self-synapsis of part of the dog X chromosome, and rapid loss of known markers of DSB repair from that part of the X. Sequencing of RNA from purified spermatocytes and spermatids revealed establishment of MSCI. (
  • This may be partially explained by extensive, but transient, self-synapsis of the X chromosome, in association with rapid completion of meiotic DSB repair. (
  • The chromosomes can be stained by one of several techniques that produce a distinct pattern of light and dark bands along the chromosomes, and each chromosome can be recognized by its size and banding pattern. (
  • The t(6;9)(p22;q34) in myeloid neoplasms: a retrospective study of 16 cases. (
  • I realize that there is are extremely rare genetic situations where some sex chromosome abnormalities exists. (
  • As noted above, Chromosome 9, Partial Monosomy 9p is also associated with characteristic abnormalities of the skull and facial (craniofacial) region. (
  • Cytogenetic disorders with visible chromosomal abnormalities are evidenced by either an abnormal number of chromosomes or some alteration in the structure of one or more chromosomes. (
  • Either trisomy or monosomy involving the sex chromosomes yields relatively mild abnormalities. (
  • When it comes to the 23rd pair of human chromosomes that determines the sex of a person, similar chromosomal abnormalities can occur, which may lead to "primary amenorrhea- in women (that means girls never had a menstrual period) and infertility in men (McGehee et al, 1976). (
  • They found a number of regions that 'might correspond to insertions that are specific to the human lineage. (
  • Homogeneously staining regions and dicentric chromosomes were observed. (
  • Northern blot analysis ( 32 ) of polyadenylated RNA from multiple human tissues (left) and from different human brain regions (center and right). (
  • In male mouse meiosis, the largely heterologous X and Y chromosomes synapse only in their short pseudoautosomal regions (PARs), and DSBs persist along the unsynapsed non-homologous arms of these sex chromosomes. (