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.

Conserved mechanism of PLAG1 activation in salivary gland tumors with and without chromosome 8q12 abnormalities: identification of SII as a new fusion partner gene. (1/1201)

We have previously shown (K. Kas et al, Nat. Genet., 15: 170-174, 1997) that the developmentally regulated zinc finger gene pleomorphic adenoma gene 1 (PLAG1) is the target gene in 8q12 in pleomorphic adenomas of the salivary glands with t(3;8)(p21;q12) translocations. The t(3;8) results in promoter swapping between PLAG1 and the constitutively expressed gene for beta-catenin (CTNNB1), leading to activation of PLAG1 expression and reduced expression of CTNNB1. Here we have studied the expression of PLAG1 by Northern blot analysis in 47 primary benign and malignant human tumors with or without cytogenetic abnormalities of 8q12. Overexpression of PLAG1 was found in 23 tumors (49%). Thirteen of 17 pleomorphic adenomas with a normal karyotype and 5 of 10 with 12q13-15 abnormalities overexpressed PLAG1, which demonstrates that PLAG1 activation is a frequent event in adenomas irrespective of karyotype. In contrast, PLAG1 was overexpressed in only 2 of 11 malignant salivary gland tumors analyzed, which suggests that, at least in salivary gland tumors, PLAG1 activation preferentially occurs in benign tumors. PLAG1 over-expression was also found in three of nine mesenchymal tumors, i.e., in two uterine leiomyomas and one leiomyosarcoma. RNase protection, rapid amplification of 5'-cDNA ends (5'-RACE), and reverse transcription-PCR analyses of five adenomas with a normal karyotype revealed fusion transcripts in three tumors. Nucleotide sequence analysis of these showed that they contained fusions between PLAG1 and CTNNB1 (one case) or PLAG1 and a novel fusion partner gene, i.e., the gene encoding the transcription elongation factor SII (two cases). The fusions occurred in the 5' noncoding region of PLAG1, leading to exchange of regulatory control elements and, as a consequence, activation of PLAG1 gene expression. Because all of the cases had grossly normal karyotypes, the rearrangements must result from cryptic rearrangements. The results suggest that in addition to chromosomal translocations and cryptic rearrangements, PLAG1 may also be activated by mutations or indirect mechanisms. Our findings establish a conserved mechanism of PLAG1 activation in salivary gland tumors with and without 8q12 aberrations, which indicates that such activation is a frequent event in these tumors.  (+info)

Identification of a human HECT family protein with homology to the Drosophila tumor suppressor gene hyperplastic discs. (2/1201)

Use of the differential display technique to isolate progestin-regulated genes in T-47D human breast cancer cells led to identification of a novel gene, EDD. The cDNA sequence contains a 2799 amino acid open reading frame sharing 40% identity with the predicted 2894 amino acid product of the Drosophila melanogaster tumor suppressor gene hyperplastic discs, while the carboxy-terminal 889 amino acids show 96% identity to a rat 100 kDa HECT domain protein. EDD mRNA was progestin-induced in T-47D cells and was highly abundant in testes and expressed at moderately high levels in other tissues, suggesting a broad role for EDD. Anti-EDD antibodies immunoprecipitated an approximately 300 kDa protein from T-47D cell lysates. HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for ubiquitin-mediated proteolysis. EDD is likely to function as an E3 as in vitro translated protein bound ubiquitin reversibly through a conserved HECT domain cysteine residue. EDD was localized by FISH to chromosome 8q22, a locus disrupted in a variety of cancers. Given the homology between EDD and the hyperplastic discs protein, which is required for control of imaginal disc growth in Drosophila, EDD potentially has a role in regulation of cell proliferation or differentiation.  (+info)

Angiopoietins 3 and 4: diverging gene counterparts in mice and humans. (3/1201)

The angiopoietins have recently joined the members of the vascular endothelial growth factor family as the only known growth factors largely specific for vascular endothelium. The angiopoietins include a naturally occurring agonist, angiopoietin-1, as well as a naturally occurring antagonist, angiopoietin-2, both of which act by means of the Tie2 receptor. We now report our attempts to use homology-based cloning approaches to identify new members of the angiopoietin family. These efforts have led to the identification of two new angiopoietins, angiopoietin-3 in mouse and angiopoietin-4 in human; we have also identified several more distantly related sequences that do not seem to be true angiopoietins, in that they do not bind to the Tie receptors. Although angiopoietin-3 and angiopoietin-4 are strikingly more structurally diverged from each other than are the mouse and human versions of angiopoietin-1 and angiopoietin-2, they appear to represent the mouse and human counterparts of the same gene locus, as revealed in our chromosomal localization studies of all of the angiopoietins in mouse and human. The structural divergence of angiopoietin-3 and angiopoietin-4 appears to underlie diverging functions of these counterparts. Angiopoietin-3 and angiopoietin-4 have very different distributions in their respective species, and angiopoietin-3 appears to act as an antagonist, whereas angiopoietin-4 appears to function as an agonist.  (+info)

An ankyrin-like protein with transmembrane domains is specifically lost after oncogenic transformation of human fibroblasts. (4/1201)

We have identified a novel transformation-sensitive mRNA, which is present in cultured fibroblasts but is lacking in SV40 transformed cells as well as in many mesenchymal tumor cell lines. The corresponding gene is located on human chromosome 8 in band 8q13. The open reading frame of the mRNA encodes a protein of 1119 amino acids forming two distinct domains. The N-terminal domain consists of 18 repeats that are related to the cytoskeletal protein ankyrin. The C-terminal domain contains six putative transmembrane segments that resemble many ion channels. This overall structure is reminiscent of TRP-like proteins that function as store-operated calcium channels. The novel protein with an Mr of 130 kDa is expressed at a very low level in human fibroblasts and at a moderate level in liposarcoma cells. Overexpression in eukaryotic cells appears to interfere with normal growth, suggesting that it might play a direct or indirect role in signal transduction and growth control.  (+info)

Human NDUFB9 gene: genomic organization and a possible candidate gene associated with deafness disorder mapped to chromosome 8q13. (5/1201)

Human NADH dehydrogenase (ubiquinone) 1beta-subcomplex, 9 (NDUFB9) is a nuclear encoded mitochondrial protein with the respiratory electron transport chain. It has been physically mapped to a 1-Mb deletion at chromosome 8q13 which also contains the gene for branchio-oto-renal (BOR) syndrome. BOR syndrome is characterized by branchial and renal abnormalities with hearing impairment. Since several hereditary deafness disorders have been associated with mitochondrial mutations, NDUFB9 was considered a candidate gene for BOR syndrome. Recently, EYA1 gene has been identified in the region which underlies the BOR syndrome but majority of BOR families did not show mutations in the EYA1 gene. Here we have determined the genomic structure of the NDUFB9 gene, including the nucleotide sequence, organization and the boundaries of the four coding exons. PCR primers were designed from the adjacent intron sequences that allow amplification of the four exons that encode the complete open reading frame. To identify whether mutations in NDUFB9 are involved in causing the BOR syndrome, we screened 9 BOR families which did not show mutations in the EYA1 gene by heteroduplex analysis; however, no mutations were found.  (+info)

Trisomies 8 and 20 characterize a subgroup of benign fibrous lesions arising in both soft tissue and bone. (6/1201)

Trisomy 8 and trisomy 20 are nonrandom aberrations in desmoid tumors. The presence of these trisomies in related benign fibrous lesions of bone has not been previously addressed. In this study, 22 specimens from 19 patients diagnosed with desmoid tumor, desmoplastic fibroma, periosteal desmoid tumor, osteofibrous dysplasia, or fibrous dysplasia were examined by cytogenetic analysis of short-term cultures and bi-color fluorescence in situ hybridization of cytological touch preparations or paraffin-embedded tissue with centromeric probes for chromosomes 8 and 20. Trisomy 8 and trisomy 20 were detected by molecular cytogenetic methodologies in 15 specimens, including 10 primary bone lesions. Traditional cytogenetic analysis revealed trisomy 8 in two cases of osteofibrous dysplasia. Our findings demonstrate that trisomy 8 and trisomy 20 are also nonrandom aberrations in histologically similar, but clinically distinct, benign fibrous lesions of bone.  (+info)

Differential expression assay of chromosome arm 8p genes identifies Frizzled-related (FRP1/FRZB) and Fibroblast Growth Factor Receptor 1 (FGFR1) as candidate breast cancer genes. (7/1201)

Deletions and amplifications are frequent alterations of the short arm of chromosome 8 associated with various types of cancers, including breast cancers. This indicates the likely presence of tumor suppressor genes and oncogenes. In the present study, we have used the expressed sequence tag (EST) map of 8p11-21 to assemble a set of available cDNAs representing genes from this region. DNA arrays were prepared for expression analysis and search for genes potentially involved in breast cancer. Underexpresion in tumoral breast cells (versus normal breast) was observed for 15 transcripts. Among these, the Frizzled-related gene FRP1/FRZB, was turned off in 78% of breast carcinomas, suggesting that the lack of its product may be associated with malignant transformation. Overexpression in tumoral breast cells was observed for 13 genes. The FGFR1 gene, that encodes a tyrosine kinase receptor for members of the fibroblast growth factor family, was identified as a good candidate for one amplification unit. Taken together, our results demonstrate that such a strategy can rapidly identify genes with an altered pattern of expression and provide candidate genes for malignancies.  (+info)

Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. (8/1201)

Deletions in the distal region of chromosome 8p (del8p) are associated with congenital heart malformations. Other major manifestations include microcephaly, intrauterine growth retardation, mental retardation, and a characteristic hyperactive, impulsive behavior. We studied genotype-phenotype correlations in nine unrelated patients with a de novo del8p, by using the combination of classic cytogenetics, FISH, and the analysis of polymorphic DNA markers. With the exception of one large terminal deletion, all deletions were interstitial. In five patients, a commonly deleted region of approximately 6 Mb was present, with breakpoints clustering in the same regions. One patient without a heart defect or microcephaly but with mild mental retardation and characteristic behavior had a smaller deletion within this commonly deleted region. Two patients without a heart defect had a more proximal interstitial deletion that did not overlap with the commonly deleted region. Taken together, these data allowed us to define the critical deletion regions for the major features of a del8p.  (+info)

There are a wide assortment of worms and other parasites that are a danger to your pets health. Find out the symptoms and treatments for the 10 most
Hereditary multiple exostosis (HME) / Hereditäre Multiple Exostose, Multiple exostosis disease, Multiple cartilagenous exostoses, Multiple osteochondroma, Multiple cartilagenous exostosis, Diaphyseal aclasis, Endochondromatosis
: Hereditary multiple exostoses (HME) is a rare genetic disorder, which can be associated with severe complications that may significantly affect the health-related quality of life (HRQL). Our primary objective was to describe the baseline HRQL in HM
by Barbara Stranger, Qiyuan Li, Ji-Heui Seo, Aaron McKenna, Itsik Peer, Thomas LaFramboise, Myles Brown, Svitlana Tyekucheva, Matthew L. Freedman Germline determinants of gene expression in tumors are infrequently studied due to the complexity of transcript regulation caused by somatically acquired alterations. We performed expression quantitative trait locus (eQTL)-based analyses using the multi-level information provided in The Cancer Genome Atlas (TCGA). Of the factors we measured, cis-acting eQTLs accounted for 1.2% of the total variation of tumor gene expression, while somatic copy-number alteration and CpG methylation accounted for 7.3% and 3.3%, respectively. eQTL analyses of 15 previously reported breast cancer risk loci resulted in the discovery of three variants that are significantly associated with transcript levels (false discovery rate [FDR] < 0.1). Our trans-based analysis identified an additional three risk loci to act through ESR1, MYC, and KLF4. These findings provide a more ...
TY - JOUR. T1 - Association analysis identifies 65 new breast cancer risk loci. AU - Michailidou, Kyriaki. AU - Lindström, Sara. AU - Dennis, Joe. AU - Beesley, Jonathan. AU - Hui, Shirley. AU - Kar, Siddhartha. AU - Lemaçon, Audrey. AU - Soucy, Penny. AU - Glubb, Dylan. AU - Rostamianfar, Asha. AU - Bolla, Manjeet K. AU - Wang, Qin. AU - Tyrer, Jonathan. AU - Dicks, Ed. AU - Lee, Andrew. AU - Wang, Zhaoming. AU - Allen, Jamie. AU - Keeman, Renske. AU - Eilber, Ursula. AU - French, Juliet D. AU - Qing Chen, Xiao. AU - Fachal, Laura. AU - McCue, Karen. AU - McCart Reed, Amy E. AU - Ghoussaini, Maya. AU - Carroll, Jason S. AU - Jiang, Xia. AU - Finucane, Hilary. AU - Adams, Marcia. AU - Adank, Muriel A. AU - Ahsan, Habibul. AU - Aittomäki, Kristiina. AU - Anton-Culver, Hoda. AU - Antonenkova, Natalia N. AU - Arndt, Volker. AU - Aronson, Kristan J. AU - Arun, Banu. AU - Auer, Paul L. AU - Bacot, François. AU - Barrdahl, Myrto. AU - Baynes, Caroline. AU - Beckmann, Matthias W. AU - Behrens, ...
Figure 1 -- Multiple bony thoracic sessile & pedunculated osteochondromas. Note the abnormal dysplastic bones. The underlying inferior aspect of the posterior 6th rib ...
kabuki syndrome - I am from south Africa and i have a son with kabuki syndrome. I want to know if there is other moms with kids with this...
FGFR1 (Fibroblast growth factor receptor 1), also known as fms-related tyrosine kinase-2/Pfeiffer syndrome, is a member of the fibroblast growth factor receptor (FGFR) family. FGFR family is cell surface membrane receptor that possesses tyrosine kinase activity. When combined with appropriate FGF, FGFR1 elicits cellular responses such as proliferation, migration, and differentiation by activating a series of intracellular signaling pathways including Ras subfamily/ERK, PKC, phospholipase C/PI3K/AKT, Ip3-induced raising of cytosolic Ca2+, Ca2+/calmodulin-activated elements and pathways.. Studies have shown that mutations in FGFR1 are associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, Osteoglobulin dysplasia, and autosomal dominant Kallmann syndrome2. And chromosomal aberrations involving FGFR1 are associated with stem cell myeloproliferative disorders and stem cell leukemia lymphoma syndrome. At the same time, FGFR1 also has a certain correlation with tumors (Table ...
TY - JOUR. T1 - Prognostic value of AML 1/ETO fusion transcripts in patients with acute myelogenous leukemia.. AU - Cho, Eun Kyung. AU - Bang, Soo Mee. AU - Ahn, Jeong Yeal. AU - Yoo, Seung Min. AU - Park, Pil Whan. AU - Seo, Yieh Hea. AU - Shin, Dong Bok. AU - Lee, Jae Hoon. PY - 2003/1/1. Y1 - 2003/1/1. N2 - BACKGROUND: The t (8;21) (q22;q22), which produces the fusion gene AML1/ETO, is associated with relatively good prognosis and, in particular, with a good response to cytosine arabinoside. Analysis of t (8;21) positive leukemic blasts has shown characteristic morphological and immunological features. We performed this study to investigate the incidence of AML1/ETO rearrangement in adult acute myelogenous leukemia (AML), especially in M2 subtype, to make a comparison of clinical, morphological and immunophenotypic characteristics between AML1/ETO rearrangement positive and negative group in patients with AML and to analyze the correlation with other biological parameters. METHODS: From May ...
TY - JOUR. T1 - Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. AU - Sobreira, Nara. AU - Brucato, Martha. AU - Zhang, Li. AU - Ladd-Acosta, Christine Marie. AU - Ongaco, Chrissie. AU - Romm, Jane. AU - Doheny, Kimberly. AU - Mingroni-Netto, Regina C.. AU - Bertola, Debora. AU - Kim, Chong A.. AU - Perez, Ana Ba. AU - Melaragno, Maria I.. AU - Valle, David. AU - Meloni, Vera A.. AU - Bjornsson, Hans Tomas. PY - 2017/12/1. Y1 - 2017/12/1. N2 - Kabuki syndrome is a monogenic disorder caused by loss of function variants in either of two genes encoding histone-modifying enzymes. We performed targeted sequencing in a cohort of 27 probands with a clinical diagnosis of Kabuki syndrome. Of these, 12 had causative variants in the two known Kabuki syndrome genes. In 2, we identified presumptive loss of function de novo variants in KMT2A (missense and splice site variants), a gene that encodes another histone modifying enzyme previously exclusively associated with ...
Kabuki Syndrome. Kabuki syndrome is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature.The specific symptoms associated with Kabuki syndrome can vary greatly from one person to another. The first gene is KMT2D (formerly MLL2) and the second gene, which accounts for fewer cases of Kabuki syndrome, is KDM6A. Clinical genetic testing is available for both genes. Kabuki syndrome was first reported in medical literature in 1981 by Japanese physicians. The disorder was originally called Kabuki-makeup syndrome because the facial features of many affected children resembled the makeup used by actors in kabuki, a form of Japanese theater. The term makeup has since been dropped and the preferred term for the disorder is Kabuki syndrome.. Signs and Symptoms Some symptoms of Kabuki syndrome are present at birth (congenital). Other symptoms become ...
Build: Sat Feb 17 08:59:16 EST 2018 (commit: 16064c5). National Center for Advancing Translational Sciences (NCATS), 6701 Democracy Boulevard, Bethesda MD 20892-4874 • 301-435-0888. ...
Tspyl2 - mouse gene knockout kit via CRISPR, 1 kit. |dl||dt|Kit Component:|/dt||dd|- |strong|KN318369G1|/strong|, Tspyl2 gRNA vector 1 in |a href=
Bethesda, Md., Sun., Aug. 15, 2010 - Using a new, rapid and less expensive DNA sequencing strategy, scientists have discovered genetic alterations that account for most cases of Kabuki syndrome, a rare disorder that causes multiple birth defects and mental retardation. Instead of sequencing the entire human genome, the new approach sequences just the exome, the 1-2 percent of the human genome that contains protein-coding genes.. Kabuki syndrome, which has an estimated incidence of 1 in 32,000 births, was originally described by Japanese scientists in 1981. Patients with the disorder often have distinct facial features that resemble the make-up worn by actors of Kabuki, a Japanese theatrical form.. The work, published in todays advanced online edition of Nature Genetics, was carried out by scientists at the University of Washington in Seattle as part of a larger effort to use second generation DNA sequencing technologies in new ways to identify genes for rare disorders. The project is funded ...
TY - JOUR. T1 - MLL2 Mutation Spectrum in 45 Patients with Kabuki Syndrome. AU - Paulussen, Aimee D. C.. AU - Stegmann, Alexander P. A.. AU - Blok, Marinus J.. AU - Tserpelis, Demis. AU - Posma-Velter, Crool. AU - Detisch, Yvonne. AU - Smeets, Eric E. J. G. L.. AU - Wagemans, Annemieke M. A.. AU - Schrander, Jaap J. P.. AU - van den Boogaard, Marie Jose H.. AU - van der Smagt, Jasper J.. AU - van Haeringen, Arie. AU - Stolte-Dijkstra, Irene. AU - Kerstjens-Frederikse, Wilhelmina S.. AU - Mancini, Grazia M. S.. AU - Wessels, Marja W.. AU - Hennekam, Raoul C. M.. AU - Vreeburg, Maaike. AU - Geraedts, Joep. AU - de Ravel, Thomy. AU - Fryns, Jean-Pierre. AU - Smeets, Hubert J T. AU - Devriendt, Koenraad. AU - Schrander-Stumpel, Constance T. R. M.. PY - 2011/2. Y1 - 2011/2. KW - Kabuki syndrome. KW - KS. KW - MLL2. KW - histone methyl transferase. U2 - 10.1002/humu.21416. DO - 10.1002/humu.21416. M3 - Article. VL - 32. SP - E2018-E2025. JO - Human Mutation. JF - Human Mutation. SN - 1059-7794. IS - ...
Objective This study describes 5 novel variants of 7 KMT2D/KDM6A gene and summarizes the clinical manifestations and the mutational spectrum of 47 Chinese Kabuki syndrome (KS) patients.
Notice: This site is no longer being actively maintained. While much of the information is still relevant, some of it has become out-of-date.. There are several Facebook groups. Just search Kabuki syndrome from within Facebook.. For a current site see one of the following:. ...
Notice: This site is no longer being actively maintained. While much of the information is still relevant, some of it has become out-of-date.. There are several Facebook groups. Just search Kabuki syndrome from within Facebook.. For a current site see one of the following:. ...
Zeng, C., Guo, X., Long, J., Kuchenbaecker, K.B., Droit, A., Michailidou, K., Ghoussaini, M., Kar, S., Freeman, A., Hopper, J.L., Milne, R.L., Bolla, M.K., Wang, Q., Dennis, J., Agata, S., Ahmed, S., Aittomaki, K., Andrulis, I.L., Anton-Culver, H., Antonenkova, N.N., Arason, A., Arndt, V., Arun, B.K., Arver, B., Bacot, F., Barrowdale, D., Baynes, C., Beeghly-Fadiel, A., Benitez, J., Bermisheva, M., Blomqvist, C., Blot, W.J., Bogdanova, N.V., Bojesen, S.E., Bonanni, B., Borresen-Dale, A.-L., Brand, J.S., Brauch, H., Brennan, P., Brenner, H., Broeks, A., Brüning, T., Burwinkel, B., Buys, S.S., Cai, Q., Caldes, T., Campbell, I., Carpenter, J., Chang-Claude, J., Choi, J.Y., Claes, K.B.M., Clarke, C., Cox, A., Cross, S.S., Czene, K., Daly, M.B., de la Hoya, M., De Leeneer, K., Devilee, P., Diez, O., Domchek, S.M., Doody, M.M., Dorfling, C.M., Dörk, T., Dos Santos Silva, I., Dumont, M., Dwek, M., Dworniczak, B., Egan, K.M., Eilber, U., Einbeigi, Z., Ejlertsen, B., Ellis, S., Frost, D., Lalloo, F., ...
Loss of RUNX1/ETO Triggers C/EBPα-Driven Reorganization of the Leukemic Transcriptional Network(A) RUNX1/ETO and CEBPA mRNA expression levels in Kasumi-1 cells
C. sinensis has 28 pairs of chromosomes (2n=56) in a cell. The chromosome pairs are groups in two: 8 large group and 20 small ... It infects fish-eating mammals, including humans. In humans, it infects the common bile duct and gall bladder, feeding on bile ... Endemic to Asia and Russia, C. sinensis is the most prevalent human fluke in Asia and third-most in the world. It is still ... Humans are the major definitive hosts. Infection occurs when raw or undercooked fish contaminated with the metacercariae is ...
... is essential for homologous chromosome pairing in meiosis during spermatogenesis. Targeted inactivation of FKBP6 in mice ... FK506 binding protein 6, also known as FKBP6, is a human gene. The encoded protein shows structural homology to FKBP ... 2003). "Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis". Science. 300 (5623): 1291-5. ... Mutations in this gene have been associated with male infertility in humans. FKBP6 is deleted in Williams syndrome, however ...
... human)]. [3] RNA Folding Form TargetScan Human NCBI Protein. Uncharacterized protein C8orf58 isoform 1 [Homo sapiens].[4] SDSC ... Chromosome 8 open reading frame 58 is an uncharacterised protein that in humans is encoded by the C8orf58 gene. The protein is ... It spans a total of 4,550 base pairs and has seven exons. C8orf58 is flanked by the genes PDLIM2 and CCAR2. There are no ... Orthologs of the human gene C8orf58 are limited to vertebrates of the animal kingdom. GRCh38: Ensembl release 89: ...
... spanning the chromosomal locus from base pair 34,502,909 to 34,398,027. The span of the gene is 104,882 base pairs In humans ... In humans, C9orf25 is located at the 9p13.3 position on chromosome 9. The gene is encoded on the sense strand (-) ... Chromosome 9 open reading frame 25 (C9orf25) is a domain that encodes the FAM219A gene. The terms FAM219A and C9orf25 are ... C9orf25 has a paralog FAM219B which is located on the long arm of chromosome 9 and is 198 amino acids long. The C9orf25 and ...
Human gene SIGIRR is localized on chromosome 11. It is composed of 10 exons spanning about 11 700 base pairs. In mouse, this ... gene is on chromosome 7, where it is composed of 9 exons spanning about 9 400 base pairs. SIGIRR is 410 amino acids long ... In human cells from colonic cancer, there was observed an increased expression of one variant of SIGIRR. This variant lacks its ... Human and mouse SIGIRR protein sequences are 82 %, identical and they are overall 23 % identical with IL-1R1. SIGIRR is ...
... is located on chromosome one in the p arm at location 1p36.132. It covers 36.74 kb, from base pairs 19451486 to ... KIAA0090 is a human gene coding for a protein of unknown function. KIAA0090 has two aliases OTTHUMP00000002581 and RP1-43E13.1 ... Gupta R, Brunak S (2002). "Prediction of glycosylation across the human proteome and the correlation to protein function". Pac ... The gene has 8 probable promoters. The gene is flanked by UBR4 on its right and MRTO4 on its left. This Information is ...
This gene is found on the plus strand of chromosome 17 at locus 17q11.2. It spans from base pairs 31,254,928 to 31,272,124. ... "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome ... This missing region corresponds to 85 base pairs near the end of the 5' UTR. Variant one is more abundant than Variant two with ... Transmembrane protein 98 is a single-pass membrane protein that in humans is encoded by the TMEM98 gene. The function of this ...
In humans, lactoferrin gene LTF is located on the third chromosome in the locus 3q21-q23. In oxen, the coding sequence consists ... insertions and mutations of stop codons affect the coding part and its length varies between 2,055 and 2,190 nucleotide pairs. ... Human colostrum ("first milk") has the highest concentration, followed by human milk, then cow milk (150 mg/L). Lactoferrin is ... lactoferrin shows potent activity against both human immunodeficiency virus and human cytomegalovirus replication in vitro". J ...
... six pairs) of chromosomes, i.e. 2n = 12. The draft genome and transcriptomes were published in 2014. Its genome is 634.5 Mb in ... In humans,O. viverrini inhabits mainly the bile ducts, and rarely, the gall bladder and pancreatic duct. Heavy infection can ... The first human specimen was described by a British parasitologist Robert Thomson Leiper in 1915, but without knowing the exact ... The first human case was discovered by Robert Thomson Leiper in 1915. O. viverrini (together with Clonorchis sinensis and ...
The human gene TMEM8A is found on chromosome 16 at the band 16p13.3. The span of this gene on chromosome 16 spans from base ... pair 420,773 to 437,113 making this gene 16,340 base pairs in length. This gene is found on the minus strand of the chromosome ... There are two paralogs for TMEM8A found in humans, C9orf127 and TMEM8C. Both of these paralogs are found on Chromosome 9. The ... December 2004). "The sequence and analysis of duplication-rich human chromosome 16" (PDF). Nature. 432 (7020): 988-94. Bibcode: ...
Family with sequence similarity 167, member A is a protein in humans that is encoded by the FAM167A gene located on chromosome ... a total of 53,253 base pairs. The promoter spans from 11324145 to 11324476 on the negative strand, thereby the first basepair ... "SymAtlas Human tissue expression". BioGPS. "Tissue expression in house mouse". Sun F, Xu J, Wu Z, Li P, Chen H, Su J, You X, Li ... On chromosome 8, FAM167A is positioned between c8orf12 (anti-sense) and BLK (anti-sense). The exact locus of FAM167A is 8p23-22 ...
The location of the gene in humans is on the first chromosome at locus p36.1-p35. The gene is coded in 1,162 base pairs, ... This editing has been shown in monocytes and some human lymphoid cell-lines, and is enhanced by hypoxia. Click on genes, ... The mRNA transcripts of the SDHB gene in human are edited through an unknown mechanism at ORF nucleotide position 136 causing ... "Entrez Gene: succinate dehydrogenase complex". Kita K, Oya H, Gennis RB, Ackrell BA, Kasahara M (January 1990). "Human complex ...
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- ...
The coding region is made up of 5,604 base pairs and 5 exons. FAM83H is ubiquitously expressed throughout the human body at ... FAM83H is located on the long arm of chromosome 8 (8q24.3), starting at 143723933 and ending at 143738030. The FAM83H gene ... "Genecards". The Gene Human Database. "Aceview". NCBI. "Genecards". The Gene Human Database. "BLAST". NCBI. Hedges, SB. " ... In humans, there is only one known major product of the FAM83H gene. There are no paralogs of FAM83H Below is a table of a ...
Chromosome X Open Reading Frame 38 (CXorf38) is a protein which, in humans, is encoded by the CXorf38 gene. CXorf38 appears in ... Including 5' and 3' untranslated regions, isoform 1 is 18,515 base pairs long, spanning chromosome X at 40,626,921 - 40,647,554 ... UCSC entry on CXorf38 variant 1 "CXorf38 chromosome X open reading frame 38 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm ... However, unlike mice, there is a positive clustering of escape genes in humans, which suggests that human XCI escape could be ...
The human form as 323 amino acid residues, with an isoelectric point of 5.618 and a molecular mass of 37,086 Daltons. There are ... The gene product is a 1,441 base pair mRNA with 8 predicted exons in the human gene. As predicted by Ensemble, there exists one ... The predicted promoter region spans 714 basepairs from 4,246,532 to 4,247,245 on the plus strand of chromosome 19. CCDC94 is ... Coiled-coil domain containing 94 (CCDC94), is a protein that in humans is encoded by the CCDC94 gene. The CCDC94 protein ...
Y-chromosome haplotypes and implications for human history in the Pacific". Human Mutation. 17 (4): 271-80. doi:10.1002/humu.23 ... "Y-chromosome diversity is inversely associated with language affiliation in paired Austronesian- and Papuan-speaking ... "Reduced Y-Chromosome, but Not Mitochondrial DNA, Diversity in Human Populations from West New Guinea". The American Journal of ... and East Indonesia by human Y-chromosome DNA haplogroups based on relevant studies. Oceania Languages of Oceania Demographics ...
The gene locus is located on the long arm of chromosome 2 at 2q21.1, and spans 5991 base pairs. A common alternative alias is ... In humans, CCDC74A has one important paralog, CCDC74B. Gene duplication is estimated to have occurred approximately 7 million ... Coiled-coil domain containing 74A is a protein that in humans is encoded by the CCDC74A gene. The protein is most highly ... However, distant orthologs prior to gene duplication are conserved in species that diverged from humans between 92-797 MYA. ...
Cox, Murray P.; Mirazón Lahr, Marta (2006). "Y-chromosome diversity is inversely associated with language affiliation in paired ... Spread of Haplogroup M, from National Geographic Genetic genealogy Haplogroup Haplotype Human Y-chromosome DNA haplogroup ... "Reduced Y-Chromosome, but Not Mitochondrial DNA, Diversity in Human Populations from West New Guinea". The American Journal of ... Haplogroup M, also known as M-P256 and Haplogroup K2b1b (previously K2b1d) is a Y-chromosome DNA haplogroup. M-P256 is a ...
The NDUFA8 gene is located on the q arm of chromosome 9 in position 33.2 and spans 27,354 base pairs. The gene produces a 20 ... Related pseudogenes have also been identified on four other chromosomes. The human NDUFA8 gene codes for a subunit of Complex I ... Smeitink J, van den Heuvel L (1999). "Human mitochondrial complex I in health and disease". Am. J. Hum. Genet. 64 (6): 1505-10 ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
The NDUFAF6 gene is located on the q arm of chromosome 8 in position 22.1 and spans 222,728 base pairs. The gene produces a ... NADH:ubiquinone oxidoreductase complex assembly factor 6 is a protein that in humans is encoded by the NDUFAF6 gene. The ... GRCm38: Ensembl release 89: ENSMUSG00000050323 - Ensembl, May 2017 "Human PubMed Reference:". National Center for Biotechnology ...
... and spans 27,566 base pairs. There is a promoter approximately 4,000 base pairs upstream as predicted by the tool ElDorado by ... Li Y, Dong X, Yin Y, Su Y, Xu Q, Zhang Y, Pang X, Zhang Y, Chen W (December 2005). "BJ-TSA-9, a novel human tumor-specific gene ... Deletions in this part of the chromosome, including the FAM83A gene, often result in Langer-Giedion syndrome. The FAM83A mRNA ... Protein FAM83A (family member with sequence similarity 83) also known as tumor antigen BJ-TSA-9 is a protein that in humans is ...
... is a valid, protein coding gene that is located on the minus strand of the q-arm of chromosome 2. Its exact location is ... Its genomic mRNA length is 9,807 base pairs. Its genomic DNA length is 24.3 kilobases. It has 8 exons, 4 common splice forms. ... Pleckstrin Homology domain containing Family M Member 3, or PLEKHM3, is the hypothetical protein that in humans is encoded by ... EntrezGene 51526: plekstrin homology domain containing family member 3 GeneCards Human Gene Database. "PLEKHM3 Gene - GeneCards ...
The PLA2G6 gene is located on the p arm of chromosome 22 at position 13.1 and it spans 80,605 base pairs. The PLA2G6 gene ... "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. doi:10.1038/990031. PMID 10591208. Kim SJ, Gershov D, Ma ... Different from rodent PLA2G6, which is known to share 90% overall amino acid sequence identity with that of the humans, the ... Larsson PK, Claesson HE, Kennedy BP (Jan 1998). "Multiple splice variants of the human calcium-independent phospholipase A2 and ...
The COA5 gene is located on the q arm of chromosome 2 at position 11.2 and it spans 9,195 base pairs. The COA5 gene produces an ... Cytochrome c oxidase assembly factor 5 is a protein that in humans is encoded by the COA5 gene. This gene encodes an ortholog ... "COA5 - Cytochrome c oxidase assembly factor 5 - Homo sapiens (Human) - COA5 gene & protein". Retrieved 2018-08 ... which is conserved in the 74-amino acid deduced human protein. An example of the twin CX9C would be a repeated motif of 2 ...
Chromosome 8 open reading frame 82 is a protein encoded in humans by the C8orf82 gene. C8orf82 is a gene located on the minus ... The mRNA produced by the C8orf82 gene is 1,979 base pairs long with coding sequence that starts at base 159 and ends at base ... The Human Protein Atlas entry on C8orf82 NCBI GEO Profile entry on C8orf82 GDS3113 Unigene entry for C8orf82. ... Isoleucine (0.5%) and lysine (1.4%) within C8orf82 were found to occur in lower frequencies compared to other normal human ...
Chromosome 1 open reading frame (C1orf167) is a protein which in humans is encoded by the C1orf167 gene. The NCBI accession ... The mRNA sequence was found to be 4689 base pairs in length. It can be located on chromosome 1 at position 1p36.22 on the plus ... "C1orf167 chromosome 1 open reading frame 167 [Homo sapiens (human)] - Gene - NCBI". Retrieved 2019-04-22 ... The promoter GXP_5109290 spans 1507 base pairs on chromosome 1. GXP_5109290 was found to be conserved in the bonobo (Pan ...
Sequences of major human α-defensins: Genes encoding cryptdins are located on the proximal arm of mouse chromosome 8. They are ... The topology that arises from this structure is an amphipathic globular form in which the termini are paired opposite a pole ... Initially human alpha defensin peptides were isolated from the neutrophils and are thus called human neutrophil peptides. Human ... Human neutrophil peptides are found in human atherosclerotic arteries, inhibit LDL metabolism and fibrinolysis and promote Lp(a ...
For human gametes, with 23 pairs of chromosomes, the number of possibilities is 223 or 8,388,608 possible combinations.[8] The ... Of the 46 chromosomes in a normal diploid human cell, half are maternally derived (from the mother's egg) and half are ... zygote will normally end up with 23 chromosomes pairs, but the origin of any particular chromosome will be randomly selected ... Mendel also found that each pair of alleles segregates independently of the other pairs of alleles during gamete formation. ...
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] ... Hypoxanthine can bind to cytosine, and when the XC base pair is ... 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 ...
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 ... "Distinct functional properties of three human paired-box-protein, PAX8, isoforms generated by alternative splicing in thyroid, ...
... 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 ...
Because RPS6KA3 is located on the X chromosome, males (who possess only one copy of the X chromosome) display more severe ... "Coffin-Lowry syndrome". European Journal of Human Genetics 18, 627-633 (2010). doi:10.1038/ejhg.2009.189 ... In 2002, Helen Fryssira and RJ Simensen identified a 3 base pair deletion in the gene encoding RSK2, which was the first report ... The syndrome is caused by mutations in the RPS6KA3 gene.[1] This gene is located on the short arm of the X chromosome (Xp22.2 ...
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 ...
... 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, ...
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 ... 8] They showed that selection for tame behavior caused the levels of 11-oxycorticosteroids in the blood to be reduced; ...
... 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 ... Glycogen phosphorylase was the first allosteric enzyme to be discovered.[8] This accomplishment was one of many landmark ...
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".. *^ " ... Continuous human habitation in England dates to around 13,000 ...
... 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. ...
Chromosomes, Human, Pair 8 * European Continental Ancestry Group / genetics * Gene Frequency * Genetic Predisposition to ...
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. ...
Autosomes are any chromosome other than a sex chromosome. Humans have 22 pairs of autosomes. ... Full assembly of human chromosome 8 reveals novel genes, disease risks The full assembly of human chromosome 8 is reported this ... Move over, Y chromosome - its time X got some attention In the first evolutionary study of the chromosome associated with ... the process of genes leaving and arriving on the chromosome-on the mammalian X chromosome. They also have overturned a ...
Chromosomes, Human, Pair 8* * European Continental Ancestry Group * Female * Genetic Linkage* * Genetic Loci ... 1 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale ... Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ... 8); odds ratio of PTB for AA versus AG/GG = 3.09 [1.99-4.78]). The association with rs2726600 (p = 0.04) was subsequently ...
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 8, one inherited from each ... Chromosome 8 spans about 146 million base pairs (the chemicals that comprise DNA), represents about 5 percent of the total DNA ... The rs1447295 SNP is located nearby on the same arm of chromosome 8. The old and the new susceptibility loci, or gene locations ... "CGEMS allows us to look systematically across the entire human genome and search for common genetic variations that confer risk ...
... base pairs) and represents between 4.5 and 5 percent of the total DNA in cells. Learn about health implications of genetic ... Chromosome 8 spans more than 146 million DNA building blocks ( ... Ensembl Human Map View: Chromosome 8. *Feenstra I, van ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 8, one copy inherited from ... Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy. Prenat Diagn. 2006 Dec;26(13): ...
Chromosome Banding, Chromosome Mapping, Chromosomes; Human; Pair 2/*genetics, Chromosomes; Human; Pair 8/genetics, Humans, In ... Genes, Chromosomes and Cancer On the subject. Cell and Molecular Biology Search outside of DiVA. GoogleGoogle Scholar. ... 2004 (English)In: Genes, Chromosomes and Cancer, ISSN 1045-2257, E-ISSN 1098-2264, Vol. 41, no 2, p. 133-144Article in journal ... The telomeres at the chromosome ends are essential for genomic stability, and limit the growth potential of most cells. With ...
Humans have 22 chromosome pairs and two sex chromosomes. ... They are made of protein and one molecule of DNA, which contains ... A chromosome is an entire chain of DNA along with a group of ... Females have a pair of X chromosomes, males have an X and Y chromosome. ... A chromosome is a deoxyribonucleic acid (DNA) molecule with part or all of the genetic .... In addition to these, human cells ...
Most humans have 23 pairs of chromosomes, for a total of 46 chromosomes. In some cases of CMML, a copy of chromosome 7 is ... Abnormal Chromosomes. Twenty to forty percent of people with CMML have chromosomes that are abnormal in structure or number ( ... Abnormalities in Chromosome 7 and Chromosome 8. The most common chromosomal abnormalities in CMML patients involve chromosome 7 ... a piece of one chromosome breaks off and attaches to another chromosome, which can lead to the development of an "oncogene" ( ...
Humans have 46 chromosomes arranged in 23 pairs. Trisomy 8 (also called Warkany Syndrome 2) is caused by three copies of ... a male has an X and Y sex chromosome (at lower right). Trisomy 8 is found in some cases of leukaemia, and has severe effects on ... Light micrograph of the chromosomes (karyotype, with G banding) of a male with trisomy 8 in acute myeloid leukaemia (AML). ... Humans have 46 chromosomes arranged in 23 pairs. Trisomy 8 (also called Warkany Syndrome 2) is caused by three copies of ...
Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e. ... G-bands of human chromosome 8 in resolution 850 bphs[4] Chr. Arm[19] Band[20] ISCN. start[21] ISCN. stop[21] Basepair. start ... human). File:Human male karyotpe high resolution - Chromosome 8 cropped.png. Human chromosome 8 pair after G-banding.. One is ... Wikimedia Commons has media related to Human chromosome 8.. *. National Institutes of Health. "Chromosome 8". Genetics Home ...
8;21)(q22;q22). - Felicetto Ferrara, Ettore Mariano Schiavone, Salvatore Palmieri, Giuseppina Mele, Barbara Pocali, Giulia ... Chromosomes, Human, Pair 21. *Chromosomes, Human, Pair 8. *Female. *Flow Cytometry. *Granulocyte Colony-Stimulating Factor ( ... Complete remission induced by G-CSF in a patient with acute myeloid leukemia with t(8;21)(q22;q22).. Abstract. We describe a ... This case adds further evidence for a specific role of G-CSF in the treatment of AML with t(8;21), namely in patients who are ...
A single inherited trait of an individual can be determined by one pair or by many pairs of genes. A human cell contains ... Genes are composed of DNA that makes up the chromosomes of cells.. * Identify functions of plant cell parts (5-O.1) ... 2.1c Each human cell contains a copy of all the genes needed to produce a human being.. ... In many species, including plants and humans, eggs and sperm are produced.. * Identify flower parts and their functions (5-L.4) ...
The human genome consists of 22 pairs of autosomes plus two sex chromosomes. Any unique DNA sequence should thus be represented ... 6A). TheBACE2 locus is near the end of the long arm of human chromosome 21 (q22.3) (Fig. 2), and thus, at least two chromosomal ... The first probe consisted of overlapping BAC clones encompassing theBACE1 locus on human chromosome 11 (Fig.2). To assess the ... Cultured human lymphocytes (line GM07038A) were received from the Human Genetics service of University Hospitals/Case Western ...
Ideogram of chromosome 8. (B) Results of SNP-array integrated with CNV probes. Blue spots, B allele freq; Red line, ... Chromosome Deletion. *Chromosomes, Human, Pair 8. *Comparative Genomic Hybridization. *Echocardiography. *Female. *Genetic ... Health and Human Services • 8600 Rockville Pike,Bethesda,MD 20894 Privacy • Accessibility • Freedom of Information Act • ... Health and Human Services • 8600 Rockville Pike,Bethesda,MD 20894 Privacy • Accessibility • Freedom of Information Act • ...
The Y chromosome provides a male sex to the human embryo and is inherited from the father, it is also considerably shorter than ... In this article we will have a closer look at the Y chromosome; what we currently know about the male chromosome and what the ... The Y chromosome is one of the sex chromosomes that is involved in sex determination. ... Humans have 23 pairs of chromosomes which contain all information required for the creation of an offspring. Out of the 23 ...
22 pairs of chromosomes). All human cells (except sperm & ovum) contain 46 chromosomes arranged in 23 pairs. ... is due to the presence of 2 or more X chromosomes along with a single Y chromosome (due to an abnormal level of sex chromosomes ... Some aspects of human development may depend on critical periods, but,. for many human characteristics & behaviors, sensitive ... Occurs in females when 1 X chromosome is missing or incomplete (due to abnorm # of sex chromosomes). ...
Human cells have 23 pairs of homologous chromosomes. 23 come from the father and 23 come from the mother. So all genes occur in ... Yeah, I am doing a PCR genomic DNA from a diploid organism i.e. Human.. I think I require some basic explanations in the first ... Post by Jamus » Tue Dec 09, 2008 8:59 am Thanks for the reply. How can a nucleotide site be heterozygote (i.e. have two bases ... Post by Jamus » Mon Dec 08, 2008 8:08 am Dear all,. (Please see attached file). I am having complications with reading ...
The following is a partial list of genes on human chromosome 8. For complete list, see the link in the infobox on the right. ... "Human chromosome 8: entries, gene names and cross-references to MIM". UniProt. 2018-02-28. Retrieved 2018-03-16. "Search ... The following are some of the gene count estimates of human chromosome 8. Because researchers use different approaches to ... 2006). "DNA sequence and analysis of human chromosome 8". Nature. 439 (7074): 331-5. Bibcode:2006Natur.439..331N. doi:10.1038/ ...
Interestingly, humans have 23 pairs of chromosomes while chimpanzees have 24. How do scientists explain this? ... When comparing the chromosomes of humans and chimpanzees, scientists have found 16 instances of human ERVs matching exactly ... Scientists believe this can be explained by two small chromosomes found in chimpanzees having fused to form one of the human ... 2. Human cytochrome c contains 104 amino acids.. 3. Regardless of the species tested, 37 of these have been found at the same ...
The human genome of Homo sapiens is stored on 23 chromosome pairs. 22 of these are autosomal chromosome pairs, while the ... The haploid human genome occupies a total of just over 3 billion DNA base pairs that means 6 billion base pairs per diploid ... The human mitochondrial genome, while usually not included when referring to the "human genome", is of tremendous interest to ... How many genes does the Human Genome contain?. The Human Genome Project has revealed that there are probably about 20,000- ...
"The great apes have 24 pairs of chromosomes whereas humans have 23. This difference is caused by a fusion of two acrocentric ... They compared parts of the Neanderthal genome with pairs of modern humans. While the European and Asian pairs had similar ... "Genetic history of indigenous peoples of the Americas primarily focus on Human Y-chromosome DNA haplogroups and Human ... "The first anatomically modern human fossils date back only 195,000 years ... [But the Y chromosome of a recently deceased ...
C. sinensis has 28 pairs of chromosomes (2n=56) in a cell. The chromosome pairs are groups in two: 8 large group and 20 small ... It infects fish-eating mammals, including humans. In humans, it infects the common bile duct and gall bladder, feeding on bile ... Endemic to Asia and Russia, C. sinensis is the most prevalent human fluke in Asia and third-most in the world. It is still ... Humans are the major definitive hosts. Infection occurs when raw or undercooked fish contaminated with the metacercariae is ...
Different versions of the same gene found on a pair of chromosomes in the nucleus of a cell are called alleles. These can ... Humans have two sex chromosomes. What are the ones in women known as? ... Genes are always found in pairs. One of the pair was inherited from Mum and the other one of the pair of genes comes from Dad ... Chromosomes are made from long strands of DNA (deoxyribonucleic acid). Genes are small sections of the chromosomes. But what ...
Chromosome Deletion. MESH. Chromosomes, Human, Pair 8. MESH. DNA Methylation. MESH. Disease Progression. MESH. ... Allelic loss on chromosome 8p in at least one marker was found in 25/99 (25%) tumors. There was a significant correlation of 8p ... Deletions of chromosome 8p and loss of sFRP1 expression are progression markers of papillary bladder cancer ... Deletions of chromosome 8p are frequently found in several tumor types and are often associated with progressive disease. In ...
Chromosomes, Human, Pair 8. MESH. DNA/chemistry. MESH. DNA Repair. MESH. DNA Sequence, Unstable. MESH. ... Genetic alterations at chromosome arm 8p are associated with advanced disease and poor patient outcome in several types of ... Genetic alterations at chromosome arm 8p are associated with advanced disease and poor patient outcome in several types of ... Microsatellite instability at chromosome 8p in non-small cell lung cancer is associated with lymph node metastasis and squamous ...
Chapter 8 Cell division Mitosis/Meiosis Review. This spot that holds the 2 chromatid copies together is called a ... 46(23 pairs). Humans have ______ chromosomes.. Type of cell division in eukaryoticcells that results in 2 identical daughter ... True OR FalseThis organismis a human.. False; only 40 chromosomes Humans have 46 ... Homologous pairs line up, crossing over happens; end up with 4 cells that have ½ the chromosome number you started with ...
... base pairs) and representing approximately 8 percent of the total DNA in cells. Learn about health implications of genetic ... Chromosome 1 is the largest human chromosome, spanning about 249 million DNA building blocks ( ... form one of the pairs. Chromosome 1 is the largest human chromosome, spanning about 249 million DNA building blocks (base pairs ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 1, one copy inherited from ...
... or whether the nucleic acid sequence of interest is localized in the chromosomes, nucleus, or cytoplasm of a cell. The methods ... Genes on homologous chromosomes are not closely paired. Because the neu oncogene is more centrally localized at interphase than ... virus in infected human lymphocytes and empirically detected the presence of human muscular dystrophy DNA in human cells taken ... Harper, Mary E. et al., "Localization of Single Copy DNA Sequences on G-Banded Human Chromosomes by in situ Hybridization" ...
  • Identifying genes on each chromosome is an active area of genetic research. (
  • Translocations of genetic material between chromosome 8 and other chromosomes can cause 8p11 myeloproliferative syndrome. (
  • A type of blood cancer known as core binding factor acute myeloid leukemia (CBF-AML) is associated with a rearrangement (translocation) of genetic material between chromosomes 8 and 21. (
  • While t(8;21) is important for leukemia development, one or more additional genetic changes are typically needed for the myeloid blasts to develop into cancerous leukemia cells. (
  • The signs and symptoms of recombinant 8 syndrome are related to the loss of genetic material on the short arm of chromosome 8 and the presence of extra genetic material on the long arm of chromosome 8. (
  • Trichorhinophalangeal syndrome type II (TRPS II) is caused by a deletion of genetic material on the long (q) arm of chromosome 8. (
  • CGEMS allows us to look systematically across the entire human genome and search for common genetic variations that confer risk for prostate cancer, a very common and very complex disease" said Stephen Chanock, M.D., director of NCI's Core Genotyping Facility in the Advanced Technology Center. (
  • Most of our knowledge of the immortalization process is based on analyses of human fibroblast and epithelial cell cultures immortalized by genetic modification. (
  • As we know Homo sapiens or human beings are made from the information encoded in their genetic map which is written with DNA. (
  • Although such genetic happenings are common on the Y chromosome, scientists have also identified regions which contain palindromic sequences which seem to help the Y chromosome retain its active functions. (
  • We demonstrate that a significant fraction of the hippocampal pyramidal and basal forebrain neurons in AD have fully or partially replicated four separate genetic loci on three different chromosomes. (
  • The experimentation with the DNA strands from different species suggests an increasing genetic distance between humans and the other primate groups as one progresses from chimpanzees, to gorillas, to orang-utans, to gibbons and to Old World monkeys. (
  • Genetic alterations at chromosome arm 8p are associated with advanced disease and poor patient outcome in several types of malignant tumors. (
  • 1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. (
  • A 1q21.1 microduplication is a copied (duplicated) segment of genetic material at position q21.1 on one of the two copies of chromosome 1 in each cell. (
  • To further investigate the genetic mechanism giving rise to species differences in AVPR1A expression patterns and associated social behaviors, and to create a preclinical mouse model useful for screening drugs targeting AVPR1A, we engineered and extensively characterized bacterial artificial chromosome (BAC) transgenic mice harboring the entire human AVPR1A locus with the surrounding regulatory elements. (
  • Researchers have found that a small fragment of the genetic code that has been inherited by modern humans from Neanderthals could carry the secret of why some people succumb to a severe form of COVID-19 requiring hospitalization, while others recover. (
  • Genetic changes as biomarkers of mouse lung adenocarcinoma: comparison to human. (
  • We used Spectral Karyotyping (SKY), mapping with fluorescently labeled genomic clones (FISH), comparative genomic hybridization (CGH) arrays, gene expression arrays, Western immunoblot and real time polymerase chain reaction (PCR) to analyze 15 early passage mouse lung adenocarcinoma cell strains and nine pairs of high-invasive and low-invasive mouse lung adenocarcinoma tumor cell strain pairs to detect genetic biomarkers associated with mouse lung adenocarcinoma phenotype and tumor invasion. (
  • 4 These include over 100 genetic traits (autosomal dominant, autosomal recessive, and sex linked) and deletions or translocations of virtually all the chromosomes 1 (Online Mendelian Inheritance in Man, ). (
  • Any proposed legal or regulatory change to permit this should involve thorough public debate.8,9 Involving patients and practitioners In 2016 and 2017, two UK charities-the Progress Educational Trust (PET) and Genetic Alliance UK-carried out a joint project entitled 'Basic Understanding of Genome Editing', in order to address the need for understanding and clear vocabulary in this area. (
  • Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. (
  • Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. (
  • A genetic analysis of 409 pairs of gay brothers, including sets of twins, has provided the strongest evidence yet that gay people are born gay. (
  • Chromosome rearrangements, such as inversions, can suppress recombination thus contributing to a reduction of gene flow across genomic regions and the accumulation of genetic incompatibilities. (
  • The sequence, composed out of randomly selected fragments of all human chromosomes, contains over 5.3 billion base pairs, which constitute the letters of the human genetic code, at greater than 99 percent accuracy. (
  • The millions of sequences representing billions of letters of genetic code are then assembled into the proper order using proprietary genome assembly algorithms and the Celera supercomputer facility, which results in a reconstruction of the linear sequence of the 23 pairs of human chromosomes. (
  • An infertility doctor from Ireland presented research at the 25th annual conference of the European Society of Human Reproduction and Embryology in July 2009 that appears to show that IVF success may partly depend on genetic factors. (
  • It has been a revolutionary method that has resulted in reductions in the rate of miscarriage and babies with chromosome abnormalities and has accurately identified hundreds of different genetic disorders in the embryos of IVF patients. (
  • The ovum now no longer needs to be fertilized as it contains the correct amount of genetic material(a diploid number of chromosomes) and, in theory, it can be implanted into the uterus of a same-species animal and allowed to develop. (
  • Third, recombination produces new combinations of alleles at different loci, resulting in greater genetic variation upon which natural selection can act and allowing detrimental mutations to be removed from chromosomes bearing favorable alleles at other loci (reviewed in Otto and Lenormand 2002 ). (
  • Sturtevant (1913) generated the first genetic maps, based on crossover frequencies between pairs of genes, 100 years ago. (
  • Within a few years several researchers, including Painter and Muller (1929) , Dobzhansky (1930) , and Beadle (1932) , concluded from comparison of physical and genetic maps that the frequency of crossovers per unit distance varies along Drosophila chromosomes, with the most noticeable effect being suppression of crossing over near the centromere. (
  • Researchers are working to determine which genes are involved in the deletion and duplication on chromosome 8. (
  • Rats with spermatogenic failure at meiosis were found to have a deletion in the exon 8 portion of the FKBP6 gene. (
  • A deletion in the 1q21.1 region of chromosome 1 is involved in most cases of thrombocytopenia-absent radius (TAR) syndrome. (
  • The deletion in chromosome 1 involved in TAR syndrome eliminates at least 200,000 DNA building blocks (200 kilobases, or 200 kb) from the long (q) arm of the chromosome, including a gene called RBM8A . (
  • The duplication of chromosomes 1 and 15 and deletion of chromosome 8 were significantly associated with a high-invasive phenotype. (
  • The overwhelming majority of the 22q11 deletions are 3 Mb in size, whereas a smaller percentage (≈8%) involve the same proximal breakpoint but a different distal breakpoint resulting in a smaller 1.5-Mb deletion ( 9 , 10 ). (
  • Chromosome 8 spans more than 146 million DNA building blocks (base pairs) and represents between 4.5 and 5 percent of the total DNA in cells. (
  • Chromosome 8 spans about 146 million base pairs (the chemicals that comprise DNA), represents about 5 percent of the total DNA in cells, and contains an estimated 700 to 1,100 genes. (
  • Chromosome 8 spans about 145 million base pairs (the building material of DNA ) and represents between 4.5 and 5.0% of the total DNA in cells . (
  • The Y chromosome is made up of some 58 million base pairs and more than 95% of it is male specific. (
  • The haploid human genome occupies a total of just over 3 billion DNA base pairs that means 6 billion base pairs per diploid cell. (
  • Chromosome 1 is the largest human chromosome, spanning about 249 million DNA building blocks (base pairs) and representing approximately 8 percent of the total DNA in cells. (
  • Most commonly, affected individuals are missing about 1.35 million DNA building blocks (base pairs), also written as 1.35 megabases (Mb), in the q21.1 region. (
  • 1q21.1 microduplications most often involve the same segment of about 1.35 million base pairs that is missing in 1q21.1 microdeletions (described above). (
  • Chromosome 1 spans about 249 million nucleotide base pairs , which are the basic units of information for DNA . (
  • Chromosome 2 is the second largest human chromosome, spanning more than 237 million base pairs (the building material of DNA) and representing almost 8% of the total DNA in cells. (
  • 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 human genome, with 3 billion base pairs can store up to 750MB of data. (
  • It turns out the coast redwood genome has six sets of chromosomes and 27 billion base pairs of DNA. (
  • It even puts to shame the giant sequoia, which has more than 8 billion base pairs of DNA and is roughly three times the size of the human genome. (
  • The largest belongs to the axolotl, a North American salamander whose genome has more than 28 billion base pairs, giving it a remarkable ability to not only regenerate limbs but also grow back internal organs, according to the researchers. (
  • Human telomeres are programmed to lose ∼100 base pairs (bp) per population doubling (PD), resulting in senescence after ∼50 PDs ( 2-4 ). (
  • However, these reads are only a couple of hundred base pairs long making it difficult for an assembler ( e.g. , [ 1 , 2 ]) to reconstruct the genome. (
  • The stored 5.3 billion base pairs represent 2.58 billion base pairs of unique sequence which have been calculated to cover about 81 percent of an estimated genome size of 3.18 billion base pairs. (
  • This technique involves the randomly shearing of human chromosomes into millions of different pieces of 2000 and 10.000 base pairs in length. (
  • For the next several months, Celera plans to continue its full-scale effort on human genome sequencing, with the anticipated addition of approximately two billion base pairs per month. (
  • they exclusively pair as A to T and C to G, and are known as base pairs . (
  • A strand of DNA actually looks like a twisting ladder, with the base pairs forming the rungs or steps, and the sugar and phosphate molecules creating the sidepieces of the ladder or railings of the staircase. (
  • Chromosome 13 spans about 113 million base pairs (the building material of DNA ) and represents between 3.5 and 4 % of the total DNA in cells . (
  • The human DAP10 and DAP12 genes are on human chromosome 19q13.1 in opposite transcriptional orientation, separated by only ∼130 base pairs (bp) ( 6 ). (
  • Two copies of chromosome 8, one copy inherited from each parent, form one of the pairs. (
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 8. (
  • People normally have two copies of this chromosome. (
  • Females have two copies of the X chromosome, while males have one X and one Y chromosome. (
  • there are three copies of Chromosome 8, a common finding in certain leukaemias. (
  • Humans have two copies of chromosome 1, as they do with all of the autosomes , which are the non- sex chromosomes . (
  • Noticeably in addition to three copies of X chromosomes, there were paired Xq+ and a single Xp+ in most cells. (
  • When the cell divides, the whole chromosomes split in half, and then nucleotides that pair with the half-chain combine with the strand to make two complete copies. (
  • The chromosome fragments are inserted into a plasmid vector and propagated in E. coli to produce millions of copies of each fragment. (
  • Trisomy 13 occurs when each cell in the body has three copies of chromosome 13 instead of the usual two copies. (
  • As a result, a person has the two usual copies of chromosome 13, plus extra material from chromosome 13 attached to another chromosome. (
  • An example of this is the modern cultivated species of wheat , Triticum Aestivum L. , a hexaploid species whose somatic cells contain six copies of every chromosome. (
  • The amplified regions of chromosome 1 contain mouse lung susceptibility loci. (
  • Adnan A, Rakha A, Lao O, Kayser M (2018) Mutation analysis at 17 Y-STR loci (Yfiler) in father-son pairs of male pedigrees from Pakistan. (
  • We tested hypotheses concerning the origin of bird and mammal sex chromosomes by mapping the location of amniote sex-chromosome loci in a salamander amphibian (Ambystoma). (
  • The most common translocation involved in this condition, written as t(8;13)(p11;q12), fuses part of the FGFR1 gene on chromosome 8 with part of the ZMYM2 gene on chromosome 13. (
  • The translocation, written as t(8;21), fuses part of the RUNX1T1 gene (also known as ETO ) from chromosome 8 with part of the RUNX1 gene from chromosome 21. (
  • The fusion protein produced from the t(8;21) translocation, called RUNX1-ETO, retains some function of the two individual proteins. (
  • A chromosome translocation involving the PDGFR-β and TEL genes. (
  • About 1 to 4 percent of CMML patients have an abnormality called a "translocation" (a piece of one chromosome breaks off and attaches to another chromosome, which can lead to the development of an "oncogene" (cancer-causing gene). (
  • 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. (
  • Representation of the different types of balanced chromosomal reorganisations (fusion, fission, inversion and translocation) that can contribute to chromosome evolution. (
  • A lot of people get genes and chromosomes confused. (
  • The DNA that makes up genes and chromosomes is like a computer code of instructions. (
  • The telomeres at the chromosome ends are essential for genomic stability, and limit the growth potential of most cells. (
  • Human cells have 23 pairs of homologous chromosomes. (
  • The offspring of the infected individual will then have a copy of the ERV in the same place, in the same chromosome, in every single one of their cells. (
  • Sperm cells carry which of the following chromosomes? (
  • Type of eukaryotic cell divisionwhich produces cells with ½ thenumber of chromosomes as the original cell. (
  • [5] It represents about 8% of the total DNA in human cells. (
  • The modal chromosome number was 64, occurring in 30% of cells. (
  • er(12)t(8;12) (q22;p13) and four other marker chromosomes were common to most cells. (
  • In the nuclei of sex cells ( gametes ) there is only a single set of chromosomes. (
  • The der(1)t(1;15) (q42;q13), der(19)t(3;19) (q12;q13), der(12)t(8;12) (q22;p13), and four other marker chromosomes were common to most cells. (
  • 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 ). (
  • Human body cells normally have 46 chromosomes. (
  • Normal human reproductive cells have 23 chromosomes. (
  • This is the means by which a human being produces haploid (containing only 23 chromosomes) sex cells, or gametes. (
  • Thomas Hunt Morgan and his assistants later integrated Mendel's theoretical model with the chromosome theory of inheritance, in which the chromosomes of cells were thought to hold the actual hereditary material, and created what is now known as classical genetics , a highly successful foundation which eventually cemented Mendel's place in history. (
  • During normal cell division for growth or cell replacement and repair, chromosomes double and then split apart to form two cells from one. (
  • Now both of these cells will end up with identical chromosomes within their nuclei. (
  • Instead of doubling, the germinal cells are produced by splitting up the original chromosomes. (
  • These reproductive germinal cells, the sperm and the eggs (ova), therefore will contain only HALF the number of chromosomes as do the other cells of the body. (
  • Humans have 46 chromosomes, arranged in 23 pairs, that divide and split up to form germinal cells, and they assort independently. (
  • Each sire can produce roughly 550 BILLION different assortments of chromosomes in their sperm cells. (
  • In this particular experiment, the Y chromosomes were extracted from cells in culture. (
  • Kolean clearly states that there are 2 X chromosomes in the female's cells at the beginning, add 22 pairs to this and you start with 24. (
  • Trisomy 13 can also result from an extra copy of chromosome 13 in only some of the body's cells (mosaic trisomy 13). (
  • In most cells, over 50% of the chromosomes in each cell complement belonged to structurally altered marker chromosomes. (
  • Abundant ∼500-bp DAP10 transcripts were detected in human peripheral blood leukocytes, spleen, thymus, NK cells, α/β− and γ/δ−T cell receptor + T cells, and U937 (myeloid cell), but not substantially in other tissues or JY (B lymphoblastoid cell), 293T (epithelial cell), or primary fibroblasts ( Fig. 2 A) ( 6 ). (
  • Mouse 3T3 fibroblast cells are extensively used as feeder layers to enhance the cultivation of human keratinocyte in vitro. (
  • Typically, human chromosome ends have 2 - 10 kilobase pairs of detectable telomere repeats depending on the type of tissue, the age of the donor and the replicative history of the cells. (
  • In humans, somatic cells contain 46 individual chromosomes, organized into 23 pairs of chromosomes. (
  • Human somatic cells contain twice as many chromosomes as germline cells (sex cells). (
  • Germline cells contain only 23 chromosomes. (
  • The sex of the child is dependent on the chromosome the germline cells contains (X or Y). Due to the "fusion" of the germline cells, a zygote contains 46 chromosomes (i.e. 23 pairs). (
  • However, a large number of species arrange the chromosomes in their somatic cells in fours ("tetraploid") or even sixes ("hexaploid") which means that they can have diploid or even triploid germline cells. (
  • This animation represents a simplified example of gamete formation during meiosis, in the case of a diploid cell with two pairs of homologous chromosomes. (
  • This information promises to revolutionize the processes of finding chromosomal locations for disease-associated sequences and tracing human history. (
  • Our study showed that an elevated MSI at selected tetranucleotide sequences (EMAST) on chromosome 8p is frequent in early stage squamous cell carcinomas of the lung with lymphatic spread. (
  • There are differences in amino acid sequences: 8 in Homo sapiens, 6 in Mus musculus, 6 in Capra hircus, 10 in Bos taurus and 20 in Sus scrofa. (
  • 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. (
  • The additional sequences should provide redundant coverage of the chromosome sequences, improve accuracy, and aid in the final assembly of the chromosome sequences. (
  • To put it very simply, specific DNA sequences send messages to proteins with instructions on a task to perform, such as "make a human fingernail. (
  • 2009). They looked at the sequences of Y chromosomes from two men separated by 13 generations. (
  • Examples of binary mosaics of long nucleotide sequences are shown, including cases of human chromosomes and penicillins. (
  • Distribution of human rhinovirus (HRV) and human enterovirus (HEV) sequences used for primer pair studies. (
  • The Human Genome Project has revealed that there are probably about 20,000-25,000 'haploid' protein coding genes. (
  • Second, chiasmata resulting from crossovers promote accurate segregation of homologous chromosomes at the reductional division, allowing the production of gametes or spores with the correct haploid number of chromosomes (reviewed in Martinez-Perez and Colaiácovo 2009 ). (
  • So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (
  • FK506 binding protein 6, also known as FKBP6, is a human gene. (
  • cDNA array analyses revealed that secreted Frizzled-related protein 1 (sFRP1), an antagonist of Frizzled receptors and Wnt pathway activation on chromosome 8p12-11.1, is frequently downregulated in bladder cancer. (
  • as a host to transfect TLR4 cDNA (HEK-TLR4) to express TLR4 mRNA and protein and induce IL-8 (interleukin-8) promoter activity in response to NE (neutrophil elastase). (
  • 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 ). (
  • A rearrangement of chromosome 8 causes recombinant 8 syndrome, a condition that involves heart and urinary tract abnormalities, moderate to severe intellectual disability, and a distinctive facial appearance. (
  • In a small percentage of cases, trisomy 13 is caused by a rearrangement of chromosomal material between chromosome 13 and another chromosome. (
  • Light micrograph of the chromosomes (karyotype, with G banding) of a male with trisomy 8 in acute myeloid leukaemia (AML). (
  • Trisomy 8 is found in some cases of leukaemia, and has severe effects on the foetus. (
  • Extra material from chromosome 13 disrupts the course of normal development, causing the characteristic signs and symptoms of trisomy 13. (
  • We inferred from these data that a subset of infiltrating ductal carcinomas (NOS) is characterized by chromosome 8 trisomy. (
  • It has also been shown that regions of the Y chromosome are constantly being lost by either deletions or recombination which might - so some scientists believe - eventually wipe out the male species from the human race. (
  • Distribution of recombination rates in human chromosome 4. (
  • This is due to the recombination of homologous chromosomes prior to sexual reproduction. (
  • Bosch E, Jobling MA (2003) Duplications of the AZFa region of the human Y chromosome are mediated by homologous recombination between HERVs and are compatible with male fertility. (
  • Classic studies in Drosophila suggest that the position of a gene along a chromosome arm can affect the outcome of the recombination process, with proximity to the centromere being associated with lower crossing over. (
  • We found that the recombination frequency at a site in the middle of the X chromosome, where crossovers are normally frequent, was similar to the frequency at the centromere-proximal end of the euchromatin, where crossovers are normally infrequent. (
  • These results suggest that local sequence or chromatin features have a stronger impact on recombination rates in this transgene assay than position along the chromosome arm. (
  • First, in many organisms the pairing of homologous chromosomes in meiosis is dependent on recombination (reviewed in Bhalla and Dernburg 2008 ). (
  • For example, crossovers promote disjunction of homologous chromosomes, but noncrossover recombination events do not. (
  • In reality every cell has two sets of chromosomes, so nearly every human cell has 1.5GB of data shoved inside. (
  • That's nine times the size of the human genome, which has a meager two sets of chromosomes. (
  • Chromosome 8 likely contains about 700 genes that provide instructions for making proteins. (
  • A chromosome is an entire chain of DNA along with a group of stabilizing proteins. (
  • Humans though have on average three times as many kinds of proteins as the fly or worm because of mRNA transcript "alternative splicing" and chemical modifications to the proteins. (
  • Chromosome 1 likely contains 2,000 to 2,100 genes that provide instructions for making proteins. (
  • 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. (
  • It is present in the milk of humans and other mammals, in the blood plasma and neutrophils and is one of the major proteins of virtually all exocrine secretions of mammals, such as saliva, bile, tears and pancreas. (
  • Further, the chromosome is no longer able to bind shelterin or associated proteins, and thus telomere uncapping occurs. (
  • The human genome of Homo sapiens is stored on 23 chromosome pairs. (
  • ref name=vega> Chromosome size and number of genes derived from this database, retrieved 2012-03-11. (
  • FKBP6 is essential for homologous chromosome pairing in meiosis during spermatogenesis. (
  • This region shows a significant divergence between human and chimpanzee , suggesting that its high mutation rates have contributed to the evolution of the human brain. (
  • Human Y chromosome mutation rates by Larry Moran, Sandwalk blog, 1 September 2009. (
  • Willems T, Gymrek M, Poznik GD, Tyler-Smith S, The 1000 Genomes Project Y-Chromosome Working Group, Erlich Y. Population-scale sequencing data enable precise estimates of Y-STR mutation rates . (
  • The Y-chromosome point mutation rate in humans (letter). (
  • This is the fourth in a series of posts on human mutation rates and their implication(s). (
  • There are basically three ways to estimate the mutation rate in the human lineage. (
  • Chromosome 3q arm gain linked to immunotherapy response in advanced cutaneous squamous cell carcinoma. (
  • Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (
  • The Y chromosome makes up almost 2% of the total DNA in a cell. (
  • A retrovirus only becomes endogenous if it inserts into a cell whose chromosomes will be inherited by the next generation, that is, an ovum or sperm cell. (
  • We studied the frequency of microsatellite instability (MSI) and loss of heterozygosity (LOH) at chromosome 8p in early stage non-small cell lung cancer (NSCLC) of 47 patients with stage I or II disease (25 squamous cell carcinomas and 22 adenocarcinomas). (
  • 1q21.1 microdeletion is a chromosomal change in which a small piece of the long (q) arm of chromosome 1 is deleted in each cell. (
  • or whether the nucleic acid sequence of interest is localized in the chromosomes, nucleus, or cytoplasm of a cell. (
  • Different versions of the same gene found on a pair of chromosomes in the nucleus of a cell are called alleles. (
  • Here we demonstrate the power of in-nucleus Hi-C [ 14 ], a derivative of the chromosome conformation capture (3C) technique [ 15 ], to detect both known and novel, balanced and unbalanced chromosomal rearrangements from cell lines and human tumour samples. (
  • Although Hi-C has previously been used to detect and confirm chromosome rearrangements in cell lines [ 16 - 18 ], it has not, until now, been used on human primary tumour material or to detect copy number information. (
  • In an attempt to detect chromosomal rearrangements and determine accuracy of breakpoint identification we performed in-nucleus Hi-C on two human lymphoblastoid cell lines with known chromosomal translocations between chromosomes 11 and 22. (
  • A karyotype shows the full complement of chromosomes in a somatic (non-sex) cell, arranged in numbered homologous pairs. (
  • The chromosomes are stained and photographed through a light microscope during the metaphase stage of cell division. (
  • Every cell in the body of every living organism contains DNA in threadlike structures called chromosomes. (
  • When the human genome folds up inside the cell nucleus, it is spatially partitioned into numerous loops and contact domains. (
  • The amplification of chromosome 1 at band C4 and E1/2- H1 were the most significant chromosomal changes in the high-invasive cell strains. (
  • Within these minimal regions of chromosome 1 duplication, analysis of gene expression arrays and confirmation by real time PCR demonstrated increased expression of COX-2, Translin (TB-RBP), DYRK3, NUCKS and Tubulin-a4 genes in the high-invasive cell strains. (
  • This is a hypotriploid human cell line. (
  • The company is named for the 23 pairs of chromosomes in a normal human cell. (
  • Knowledge of the meiotic phase of the cell life cycle is important in understanding the radiosensitivity of the human oocyte. (
  • The Celera gene discovery team has identified several thousand new genes that potentially play key roles in cellular communication and the regulation of physiological systems in the human body, including blood pressure, cell growth, and neuro-transmission. (
  • Each and every human cell may contain 10,000 genes made up of DNA, and if you unwound and tied together all the DNA in that cell, it would stretch 6 feet . (
  • Typically, human beings have 23 pairs of chromosomes in each cell. (
  • The general order of the events of conjugation is a) cell-to-cell contact, b) mating pair formation, and finally c) transfer of plasmid DNA through a conjugative pilus. (
  • Dog chromosomes contain millions more germinal cell possibilities than the human chromosome! (
  • Chromosomes in the nucleus build an instruction copy of themselves and send that instruction to other parts of the cell, the ribosomes. (
  • Half his chromosomes will end up in that sperm cell…but how many different combinations of chromosomes can there be in any one sperm cell? (
  • To form a germinal cell, there are 2^23, or 8 million, possible different assortments of chromosomes that could be inherited for each individual cell! (
  • A human cell has 46 chromosomes, arranged in 23 pairs. (
  • During cell division, part of one chromosome may break off and swap material with its partner. (
  • PGS involves removing a cell or two from the early stages of a growing embryo and analyzing the number of chromosomes. (
  • This is a cell line with the hypodiploid chromosome count. (
  • The number of Barr bodies is one fewer than the number of X chromosomes in that cell. (
  • A ) Northern blot analysis of DAP10 in human tissues and a T leukemia cell (Jurkat), a B lymphoblastoid cell (JY), an NK leukemia cell (YT), an NK cell line (NKL), a myeloid cell (U937), and an epithelial cell (293T) ( 14 ). (
  • 3. The kit of claim 1 , wherein said first cell sample is a human cell sample. (
  • consisting of a human cell sample, a non-human cell sample, and a mouse cell sample. (
  • The completed human sequence can now identify their locations. (
  • In oxen, the coding sequence consists of 17 exons and has a length of about 34,500 nucleotide pairs. (
  • The nucleotide and derived amino acid sequence of human apolipoprotein A-IV mRNA and the close linkage of its gene to the genes of apolipoproteins A-I and C-III. (
  • The sequence of chromosome 21 was a turning point for the understanding of Down syndrome. (
  • The gene science community has made leaps and bounds in the last two decades since the start of the Human Genome Project and the discovery of techniques to rapidly sequence DNA, but it still has a long way to go. (
  • Celera Genomics, a PE Corporation business, has DNA sequence in its database which covers 90 percent of the human genome. (
  • As a result of the extensive sequence coverage of the 23 pairs of human chromosomes and based on statistical analysis, Celera believes that greater than 97 percent of all human genes are now represented in this database. (
  • These data, combined with all of the "finished" and "draft" human genome sequence data from the public databases, give Celera coverage of 90 percent of the human genome. (
  • Celera began to sequence the human genome on September 8, 1999, using the whole genome shotgun technique which its scientists have pioneered in sequencing the first complete genome in 1995 at The Institute for Genomic Research (TIGR). (
  • It is exactly the combination of both these complementary genome sequencing and assembly approaches which greatly reduces the time for Celera to finish the sequence of the human genome. (
  • When sequencing and scientific analysis of the human genome is completed, the consensus sequence data will be submitted for publication in a scientific journal. (
  • A sequence with ∼20% amino acid homology to DAP12 was identified as a human expressed sequence tag. (
  • Increased copy number and expression of genes on mouse chromosome 1 may playa functional role in lung cancer development and may aid in identifying unique lung cancer biomarkers as well as susceptibility genes in mouse and human. (
  • The location of a schizophrenia susceptibility locus at chromosome 22q11 has been suggested by genome-wide linkage studies. (
  • Twenty to forty percent of people with CMML have chromosomes that are abnormal in structure or number (called cytogenetic abnormalities). (
  • Abnormalities in Chromosome 7 and Chromosome 8. (
  • The most common chromosomal abnormalities in CMML patients involve chromosome 7 and chromosome 8. (
  • Microdeletions of chromosome 22q11 are associated with variable phenotypic expression that often includes learning disabilities, palatal abnormalities, congenital heart defects, and mildly dysmorphic facial features ( 1 ). (
  • 22 of these are autosomal chromosome pairs, while the remaining pair is sex-determining. (
  • METHODS Based on a whole genome linkage analysis, in a six generation consanguineous family with autosomal recessive inheritance, the first locus for isolated microphthalmia was mapped to chromosome 14q32. (
  • 1 It may be inherited as an autosomal dominant, 5 6 an autosomal recessive, 7 8 or an X linked trait. (
  • Overall, our results suggest that sex chromosomal regions of birds and mammals were recruited from a common ancestral chromosome, and thus our findings conflict with the currently accepted hypothesis of separate autosomal origins. (
  • TRF2 protected critically short telomeres from fusion and repressed chromosome-end fusions in presenescent cultures, which explains the ability of TRF2 to delay senescence. (
  • Telomeres are chromatin structures that cap and protect the end of chromosomes. (
  • In humans, lactoferrin gene LTF is located on the third chromosome in the locus 3q21-q23. (
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (
  • CGEMS researchers are scanning the entire human genome to identify common, inherited gene mutations that increase the risks for breast and prostate cancers. (
  • Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction ). (
  • Researchers have identified several possible tumor suppressor genes in the deleted region of chromosome 1, and more research is needed to understand what role these genes play in neuroblastoma development. (
  • In a separate project, an international consortium of researchers has sequenced the genome of the Anopheles gambiae mosquito*, which transmits the parasite to humans. (
  • These latest developments mean researchers now have a detailed insight into the DNA or "book of life" for humans, parasites and mosquitoes- the three components in the malaria cycle. (
  • 8 of 10 Researchers David Neale and Alison Scott look over the coast redwoods in a UC Davis greenhouse. (
  • Through the examination of the genome which is the closest living relatives to the human species? (
  • DNA also shows that our species and chimpanzees diverged from a common ancestor species that lived between 8 and 6 million years ago. (
  • DNA for each species is unique, which is why humans only create other humans, kangaroos make other kangaroos, and daisies produce only other daisies and not tulips. (
  • You can't identify a species just by its number of chromosomes , and it's not the number that matters, as much as the information contained on those chromosomes. (
  • The panel included representatives of the 3 HRV species ( Figure ), human enteroviruses (HEVs), and extracts negative for picornaviruses. (
  • Because primer pair 1 had a published history of detecting types from all HRV species, we chose it to genotype HRV-positive samples by sequencing the amplified products. (
  • To better understand the evolutionary relationships within Phyllostomidae, we developed chromosome paints from the bat species Macrotus californicus . (
  • By examining the chromosomal homologies defined by chromosome painting among two representatives of the subfamily Glossophaginae ( Glossophaga soricina and Anoura cultrata ) and one species from the subfamily Lonchophyllinae ( Lonchophylla concava ), we found chromosomal correspondence in regions not previously detected by other comparative cytogenetic techniques. (
  • We proposed the corresponding human chromosomal segments for chromosomes of the investigated species and found two syntenic associations shared by G. soricina and A. cultrata . (
  • The sFRP1 gene on chromosome 8p12-11.1 could be a candidate gene for the predicted, progression-related tumor suppressor gene in bladder cancer and could contribute to urothelial carcinogenesis. (
  • Chromosome 1 is the designation for the largest human chromosome . (
  • Mutations in this gene have been associated with male infertility in humans. (
  • Mutations also can be errors in all or part of a chromosome. (
  • Deletions, insertions and mutations of stop codons affect the coding part and its length varies between 2,055 and 2,190 nucleotide pairs. (
  • The Y chromosomes differed by four mutations in 10.15 × 10 6 bp. (
  • 1 These are neutral mutations and the rate works out to 3.0 × 10 -8 mutations per base pair per generation. (
  • Surprisingly, the number of human genes seems to be less than a factor of two greater than that of many much simpler organisms, such as the roundworm and the fruit fly -- see table showing number of genes for different organisms. (
  • Monohybrid inheritance - the inheritance of a single characteristic controlled by a pair of alleles. (
  • The homologous linkage groups on human chromosomes 1 q32-41 and 2q are likewise altered in invasive human lung cancer. (
  • In light of the evidence for suggestive linkage for schizophrenia on chromosome 22 (reviewed in ref. 3 ), patients with the 22q11 microdeletion were evaluated for psychiatric symptoms or disorders, and a relatively high frequency of severe mental illness has since been reported. (
  • We found that ambystomatid orthologs of human X and chicken Z sex chromosomes map to neighboring regions of a common Ambystoma linkage group 2 (ALG2). (
  • What is a compelling evidence that humans and chimpanzees share a common ancestor? (
  • Humans and chimpanzees share 96% of their genes ! (
  • Gregor Mendel observed clear patterns of inheritance in pea plants before anyone had discovered chromosomes. (
  • When Mendel's theories were integrated with the Boveri-Sutton chromosome theory of inheritance by Thomas Hunt Morgan in 1915, they became the core of classical genetics . (
  • We report here the use of fluorescent in situ hybridization to examine the chromosomal complement of interphase neuronal nuclei in the adult human brain. (
  • Each specimen was analyzed and blinded cytogenetically for the frequency of chromosome 8 copy number using fluorescence in situ hybridization (FISH). (
  • Afify, AM & Mark, HFL 1997, ' Fluorescence in situ hybridization assessment of chromosome 8 copy number in stage I and stage II infiltrating ductal carcinoma of the breast ', Cancer Genetics and Cytogenetics , vol. 97, no. 2, pp. 101-105. (
  • Recurrent chromosome translocations in liposarcoma. (
  • In other cases, individuals have a shorter or longer duplicated segment within the q21.1 region of chromosome 1. (
  • A small percentage of retinoblastoma cases are caused by deletions in the region of chromosome 13 (13q14) containing the RB1 gene. (
  • 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. (
  • Subject of Thesis: Alterations in Chromosomal Structure and Genic Activity in the Inactive X chromosome in Female Mammals. (
  • 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. (
  • Here, the authors discuss on the models of chromosomal evolution and the contribution of chromosomal reorganisations in mammalian chromosome evolution, and more specifically, during the human-chimpanzee speciation event. (
  • Deletions of chromosome 8p are frequently found in several tumor types and are often associated with progressive disease. (
  • In conclusion, we could show a close correlation of chromosome 8p deletions and progression of papillary bladder tumors. (
  • The information molecule, the DNA, is tightly packed into structures called chromosomes which are responsible for carrying over the information from the parent to the offspring. (
  • At present, in the UK and in many other jurisdictions, the only permitted clinical applications of human genome editing are somatic-they involve changes to the genome that will not be inherited by the next generation. (
  • The numbered bands specify the location of the thousands of genes that are present on each chromosome. (
  • Each chromosome contains thousands of genes. (
  • The region the CGEMS study identified on chromosome 8 is marked by a number of single nucleotide polymorphisms (SNPs), including rs6983267. (
  • Scientists have identified about 1.4 million locations where single-base DNA differences (SNPs) occur in humans. (
  • Adamov D, Guryanov V, Karzhavin S, Tagankin V, Urasin V. Defining a new rate constant for Y-chromosome SNPs based on full sequencing data . (
  • Only five SNPs stood out and of these, the ones most commonly shared were from the Xq28 and 8q12 regions on the X chromosome and chromosome 8 respectively. (
  • To illustrate that with 2 pairs of chromosomes (n=2), we get 4 (2 n ) types of different gametes. (
  • In the case of humans, n=23, an individual can produce more than 8 million different gametes. (
  • These observations may explain why crossovers tend be more frequent in the medial regions of chromosomes in Drosophila and human female meiosis. (
  • Scientists believe that the modern Y chromosome evolved from the autosomes and slowly specialized into functioning as a sex determining agent. (
  • Scientists believe this can be explained by two small chromosomes found in chimpanzees having fused to form one of the human chromosomes at some time in the past. (
  • When comparing the chromosomes of humans and chimpanzees, scientists have found 16 instances of human ERVs matching exactly with chimpanzee ERVs. (
  • The age old search for the answer to the meaning of life is taking on new dimensions as scientists crack the DNA code and investigate the implications of their ever expanding knowledge of the human genome. (