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.

Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia. (1/874)

Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant cerebellar degeneration caused by the expansion of a CAG trinucleotide repeat in the CACNA1A gene. Mutations in patients are characterised by expanded alleles of between 21 and 30 repeat units and by extreme gonadal stability when transmitted from parents to children. We have investigated the SCA6 mutation in a large Spanish kindred in which previously reported spinocerebellar SCA genes and loci had been excluded. We observed a 23 CAG repeat expanded allele in the 13 clinically affected subjects and in three out of 10 presymptomatic at risk subjects. Transmission of the mutant allele was stable in six parent to child pairs and in 29 meioses through the pedigree. Linkage analysis with the SCA6-CAG polymorphism and marker D19S221 confirmed the location of SCA6 on chromosome 19p13. The molecular findings in this large family confirm the expansion of the CAG repeat in the CACNA1A gene as the cause of SCA6 and the high meiotic stability of the repeat.  (+info)

The RD114/simian type D retrovirus receptor is a neutral amino acid transporter. (2/874)

The RD114/simian type D retroviruses, which include the feline endogenous retrovirus RD114, all strains of simian immunosuppressive type D retroviruses, the avian reticuloendotheliosis group including spleen necrosis virus, and baboon endogenous virus, use a common cell-surface receptor for cell entry. We have used a retroviral cDNA library approach, involving transfer and expression of cDNAs from highly infectable HeLa cells to nonpermissive NIH 3T3 mouse cells, to clone and identify this receptor. The cloned cDNA, denoted RDR, is an allele of the previously cloned neutral amino acid transporter ATB0 (SLC1A5). Both RDR and ATB0 serve as retrovirus receptors and both show specific transport of neutral amino acids. We have localized the receptor by radiation hybrid mapping to a region of about 500-kb pairs on the long arm of human chromosome 19 at q13.3. Infection of cells with RD114/type D retroviruses results in impaired amino acid transport, suggesting a mechanism for virus toxicity and immunosuppression. The identification and functional characterization of this retrovirus receptor provide insight into the retrovirus life cycle and pathogenesis and will be an important tool for optimization of gene therapy using vectors derived from RD114/type D retroviruses.  (+info)

Cell cycle-dependent expression and centrosome localization of a third human aurora/Ipl1-related protein kinase, AIK3. (3/874)

We earlier isolated cDNAs encoding novel human protein kinases AIK and AIK2 sharing high amino acid sequence identities with Drosophila Aurora and Saccharomyces cerevisiae Ipl1 kinases whose mutations cause abnormal chromosome segregation. In the present study, a third human cDNA (AIK3) highly homologous to aurora/IPL1 was isolated, and the nucleotide sequence was determined. This cDNA encodes 309 amino acids with a predicted molecular mass of 35.9 kDa. C-terminal kinase domain of AIK3 protein shares high amino acid sequence identities with those of Aurora/Ipl1 family protein kinases including human AIK, human AIK2, Xenopus pEg2, Drosophila Aurora, and yeast Ipl1, whereas the N-terminal domain of AIK3 protein shares little homology with any other Aurora/Ipl1 family members. AIK3 gene was assigned to human chromosome 19q13.43, which is a frequently deleted or rearranged region in several tumor tissues, by fluorescence in situ hybridization, somatic cell hybrid panel, and radiation hybrid cell panel. Northern blot analyses revealed that AIK3 expression was limited to testis. The expression levels of AIK3 in several cancer cell lines were elevated severalfold compared with normal fibroblasts. In HeLa cells, the endogenous AIK3 protein level is low in G1/S, accumulates during G2/M, and reduces after mitosis. Immunofluorescence studies using a specific antibody have shown that AIK3 is localized to centrosome during mitosis from anaphase to cytokinesis. These results suggest that AIK3 may play a role(s) in centrosome function at later stages of mitosis.  (+info)

RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency. (4/874)

The bare lymphocyte syndrome (BLS) is characterized by the absence of MHC class II transcription and humoral- and cellular-mediated immune responses to foreign antigens. Three of the four BLS genetic complementation groups have defects in the activity of the MHC class II transcription factor RFX. We have purified the RFX complex and sequenced its three subunits. The sequence of the smallest subunit describes a novel gene, termed RFX-B. RFX-B complements the predominant BLS complementation group (group B) and was found to be mutant in cell lines from this BLS group. The protein has no known DNA-binding domain but does contain three ankyrin repeats that are likely to be important in protein-protein interactions.  (+info)

Human cts18.1 gene: chromosomal localization and PH-domain analysis. (5/874)

The human cts18.1 gene has high homology with the cytohesin gene family. By PCR analysis of a human monochromosomal somatic cell hybrid DNA panel, the cts18.1 gene was localized to chromosome 19. Diversity values of synonymous and nonsynonymous substitutions indicate that negative selection has occurred in the pleckstrin-homology (PH) domain of the cytohesin gene family. The phylogenetic tree calculated by the neighbor-joining method suggests that cts18.1 and cytohesin-2 genes are more closely related to each other than either of them is to the CLM-2 gene in the analysis of cDNA of the PH domain.  (+info)

Zim1, a maternally expressed mouse Kruppel-type zinc-finger gene located in proximal chromosome 7. (6/874)

In analysis of a conserved region of proximal mouse chromosome 7 and human chromosome 19q, we have isolated a novel mouse gene, Zim1 (imprinted zinc-finger gene 1), encoding a typical Kruppel-type (C2H2) zinc-finger protein, located within 30 kb of a known imprinted gene, Peg3 (paternally expressed gene 3). Our studies demonstrate that Zim1 is also imprinted; the gene is expressed mainly from the maternal allele and at high levels only during embryonic and neonatal stages. In contrast to most tissues, Zim1 is expressed biallelically in neonatal and adult brain with slightly more input from the maternal allele. Zim1 produces multiple transcripts that range in size from 7.5 to 15 kb. The 7.5 kb transcript is expressed at highest levels and appears to be embryo specific. Whole mount in situ hybridization analysis indicates that Zim1 is expressed at significant levels in the apical ectodermal ridge of the limb buds during embryogenesis, suggesting a potential role of Zim1 in limb formation. We have identified the potential human ortholog of Zim1 near PEG3 in a conserved, gene-rich region of human chromosome 19q13.4. The close juxtaposition of reciprocally imprinted genes has also been seen in other imprinted regions, such as human 11p15.5/Mmu7 ( H19 / Igf2 ) and suggests that the two genes may be co-regulated. These and other data suggest the presence of an unexplored, conserved imprinted domain in human chromosome 19q13.4 and proximal Mmu7.  (+info)

Clinical and genetic heterogeneity in familial focal segmental glomerulosclerosis. International Collaborative Group for the Study of Familial Focal Segmental Glomerulosclerosis. (7/874)

BACKGROUND: Familial forms of focal segmental glomerulosclerosis (FFSGS) that exhibit autosomal dominant or recessive patterns of inheritance have been described. The genetic basis of these hereditary forms of FSGS is unknown. One recent study of a kindred from Oklahoma with an autosomal dominant form of FSGS linked this disease to a region of chromosome 19q. In addition, polymorphisms in a gene in this region on chromosome 19q13 have been linked to congenital nephrotic syndrome of the Finnish type. We have ascertained and characterized a large family with autosomal dominant FFSGS (Duke 6530). METHODS: Families were compared for clinical and genetic heterogeneity. To test for linkage of our family to this portion of chromosome 19, genomic DNA was isolated from 102 family members, and polymerase chain reaction was performed using eight microsatellite markers that spanned the area of interest on chromosome 19. Data were evaluated using two-point linkage analysis, multipoint analysis, and an admixture test. RESULTS: Linkage was excluded at a distance of +/- 5 to 10 CM for all markers tested with two-point log10 of the odds of linkage (LOD) scores and from an approximate 60 CM interval in this area of chromosome 19q via multipoint analysis. CONCLUSIONS: FSGS has been called the "final common pathway" of glomerular injury, as it is a frequent pathological manifestation with diverse etiologies. This diversity likely correlates with the genetic heterogeneity that we have established. Thus, our data demonstrate that there are at least two genes responsible for this disease, and there is genetic as well as clinical heterogeneity in autosomal dominant FSGS.  (+info)

Improved prognosis for congenital nephrotic syndrome of the Finnish type in Irish families. (8/874)

Congenital nephrotic syndrome of the Finnish type is a rare autosomal recessive disease with a high infant mortality without aggressive treatment. The biochemical basis of the disease is not understood fully but the disease locus has been mapped recently to chromosome 19q12-q13.1 in Finnish families. This paper describes the clinical features and outcome of 20 patients in Ireland with congenital nephrotic syndrome of the Finnish type who have presented since 1980. Before 1987, all infants died by the age of 3 years. After the introduction of daily intravenous albumin infusion, nutritional support, elective bilateral nephrectomy, and renal transplantation, mortality in the past decade has fallen to 30%, with no deaths in the past five years. Genetic linkage analysis was performed in six families in whom DNA was available and the locus responsible was mapped to the same region on chromosome 19 as in Finnish families, suggesting that Irish families share the same disease locus.  (+info)

A DC power system receives AC electrical power and DC electrical power from separate first and second sources simultaneously. The DC power system delivers DC electrical power to an output for use by a load requiring DC power. The DC power system includes a converter to convert AC electrical power to DC electrical power and a power sharing control device to control and distribute the DC electrical power to an output. The first source of DC electrical power includes a storage battery, which provides standby DC electrical power to the DC power system. It also includes a power sharing device, which maintains the storage battery fully charged for use at peak loads, when the DC output electrical power is insufficient to meet the DC load. The second source of DC electrical power is a cogenerator such as a fuel cell, a thermo photovoltaic generator or an internal combustion engine and an alternator for generating and delivering DC electrical power to the power sharing device, while producing and delivering
immune Uncategorized Rabbit Polyclonal to Integrin beta1, Tariquidar Oligodendroglial tumors form a definite subgroup of gliomas, seen as a an improved response to treatment and long term overall survival. marks ICIV). Gliomas exhibiting oligodendroglial features consist of oligodendrogliomas (WHO quality II) and anaplastic oligodendrogliomas (WHO quality III) aswell as oligoastrocytomas (WHO quality II), anaplastic oligoastrocytomas (WHO quality III) and glioblastomas with an oligodendroglial component (GBMO, WHO quality IV) [1]. Oligodendroglial tumors take into account 15-20% of most gliomas [2,3]. The recognition from the genes targeted by full 1p/19q co-deletion, a quality of oligodendrogliomas, is a long-standing Tariquidar search. Combined lack of entire chromosome hands 1p and 19q may be the most frequently recognized hereditary imbalance in oligodendroglial tumors, happening in 60-90% of oligodendrogliomas and 30-50% of oligoastrocytomas while they may be rarely within GBMO [4-6]. The ...
TY - JOUR. T1 - Chromosome 1p loss evaluation in anaplastic oligodendrogliomas. AU - Idbaih, Ahmed. AU - Kouwenhoven, Mathilde. AU - Jeuken, Judith. AU - Carpentier, Catherine. AU - Gorlia, Thierry. AU - Kros, Johan M. AU - French, Pim. AU - Teepen, Johannes L. AU - Delattre, Olivier. AU - Delattre, Jean-Yves. AU - van den Bent, Martin. AU - Hoang-Xuan, Khê. PY - 2008/8. Y1 - 2008/8. N2 - The chromosome (chr) 1p deletion is a favorable biomarker in oligodendroglial tumors and is even more powerful a marker when combined with chr 19q loss. As a result, the 1p deletion is taken into account more and more in clinical trials and the management of patients. However, the laboratory technique implemented for detection of this biomarker has been a topic of debate. To illustrate the usefulness of evaluating multiple loci, we here report two anaplastic oligodendrogliomas that were investigated using fluorescent in situ hybridization (FISH) and bacterial artificial chromosome (BAC)-array-based comparative ...
TY - JOUR. T1 - Genetic and Epigenetic Alterations in Primary-Progressive Paired Oligodendroglial Tumors. AU - Kuo, Lu Ting. AU - Tsai, Shao Yu. AU - Chang, Cheng Chi. AU - Kuo, Kuang Ting. AU - Huang, Abel Po Hao. AU - Tsai, Jui Chang. AU - Tseng, Ham Min. AU - Kuo, Meng Fai. AU - Tu, Yong Kwang. PY - 2013/6/24. Y1 - 2013/6/24. N2 - The aim of the present study was to identify genetic and epigenetic alterations involved in the progression of oligodendroglial tumors. We characterized 21 paired, World Health Organization (WHO) grade II and III oligodendroglial tumors from patients who received craniotomies for the partial or complete resection of primary and secondary oligodendroglial tumors. Tumor DNA was analyzed for alterations in selected genetic loci (1p36, 9p22, 10q23-24, 17p13, 19q13, 22q12), isocitrate dehydrogenase 1 (IDH1), isocitrate dehydrogenase 2 (IDH2) and the CpG island methylation status of critical tumor-related genes (MGMT, P16, DAPK, PTEN, RASSF1A, Rb1). Alterations of these ...
If patients could recognise themselves, or anyone else could recognise a patient from your description, please obtain the patients written consent to publication and send them to the editorial office before submitting your response [Patient consent forms] ...
The ZytoDot ® 2C SPEC 1p36/1q25 Probe is designed for the detection of 1p deletions by Chromogenic in situ Hybridization (CISH). Deletions affecting the short arm of chromosome 1 (1p) are frequently found in human gliomas and neuroblastomas, but also in breast, lung, endometrial, ovarian, and colorectal carcinomas. Loss of 1p is a strong prognostic factor in patients with neuroblastoma. Since loss of 1p reliably identifies patients at high risk in stages I, II, and IVS, which are otherwise clinically favorable, more aggressive therapy may be considered in these patients. Several studies showed correlation of combined allelic losses at 1p36 and 19q13 with oligodendroglioma histology and association with both chemotherapeutic response and survival in patients with anaplastic oligodendrogliomas. Hence, determination of 1p and 19q status may aid therapeutic decisions and predict outcome in patients with anaplastic oligodendrogliomas.
Oligodendrogliomas are gliomas that arise in the cerebral hemispheres of young and middle-aged adults. The tumors have a propensity to arise in the gray matter or superficial white matter of the frontal lobes, but oligodendrogliomas may also arise in other regions of the central nervous system.
Complete information for IGFL3 gene (Protein Coding), IGF Like Family Member 3, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
HEALING WITH OXYGEN UNDER PRESSURE by: K.K. Jain, M.D. Edited by: Virginia Neubauer MULTIPLE SCLEROSIS Multiple sclerosis is a disease involving the central nervous system with areas of loss of myelin covering of the neuronal processes (demyelination). The cause of the disease is unknown, but among the popular theories have been viruses and immunological factors. None of the treatmen ...
TY - JOUR. T1 - Tight linkage of creatine kinase (CKMM) to myotonic dystrophy on chromosome 19. AU - Yamaoka, L. H.. AU - Pericak-Vance, M. A.. AU - Speer, M. C.. AU - Gaskell, P. C.. AU - Stajich, J.. AU - Haynes, C.. AU - Hung, W. Y.. AU - Laberge, C.. AU - Thibault, M. C.. AU - Mathieu, J.. AU - Walker, A. P.. AU - Bartlett, R. J.. AU - Roses, Allen D.. PY - 1990/2. Y1 - 1990/2. N2 - The myotonic dystrophy (DM) gene is localized to the proximal long arm of chromosome 19. There have been reports of tight linkage to a number of chromosome 19 markers, including APOC2 and creatine kinase muscle type (CKMM), but they did not establish orientation of the 2 markers to DM. We screened several large multi-generational DM families for linkage to a series of chromosome 19 markers including CKMM. CKMM is tightly linked to DM in these data with z(θ̂) = 28.41; θ̂ = 0.01. Analysis of cross-over data indicates CKMM is on the same side and closer to DM than APOC2. Thus, CKMM is a useful probe for carrier ...
Mixed gliomas, such as oligoastrocytomas (OA), anaplastic oligoastrocytomas, and glioblastomas (GBMs) with an oligodendroglial component (GBMO) are defined as tumors composed of a mixture of two distinct neoplastic cell types, astrocytic and oligodendroglial. Recently, mutations ATRX and TP53, and codeletion of 1p/19q are shown to be genetic hallmarks of astrocytic and oligodendroglial tumors, respectively. Subsequent molecular analyses of mixed gliomas preferred the reclassification to either oligodendroglioma or astrocytoma. This study was designed to apply genetically integrated diagnostic criteria to mixed gliomas and determine usefulness and prognostic value of new classification in Korean patients ...
Clinical management of grade III oligodendroglioma G Simonetti, P Gaviani, A Botturi, A Innocenti, E Lamperti, A Silvani Neurooncology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy Abstract: Oligodendrogliomas represent the third most common type of glioma, comprising 4%–15% of all gliomas and can be classified by degree of malignancy into grade II and grade III, according to WHO classification. Only 30% of oligodendroglial tumors have anaplastic characteristics. Anaplastic oligodendroglioma (AO) is often localized as a single lesion in the white matter and in the cortex, rarely in brainstem or spinal cord. The management of AO is deeply changed in the recent years. Maximal safe surgical resection followed by radiotherapy (RT) was considered as the standard of care since paramount findings regarding molecular aspects, in particular co-deletion of the short arm of chromosome 1 and the long arm of chromosome 19, revealed that these subsets of AO, benefit in terms of overall
Loss of heterozygosity (LOH) of the short arm of chromosome 1 (1p) and the long arm of chromosome 19 (19q) is an early event in oligodendroglioma that occurs in up to 80% of patients and is associated with therapeutic sensitivity and longer overall survival. The purpose of this study was to confirm the reported association in patients at this centre, then identify and characterise genes that were differentially expressed and may function as a tumour suppressor or contribute to therapeutic sensitivity in oligodendroglioma. A clinical review of oligodendroglioma patients treated at Royal North Shore and North Shore Private Hospitals between 1990 and 2009 confirmed the association between LOH 1p/19q and longer overall survival in WHO grade III oligodendroglioma patients. Younger age and lower tumour grade were additionally confirmed as positive prognostic factors. Exon microarrays were used to identify changes in gene expression between oligodendrogliomas with and without LOH 1p/19q. Seventeen ...
Description: Oligodendroglioma - Pipeline Review, H1 2017, provides an overview of the Oligodendroglioma (Oncology) pipeline landscape. Oligodendroglioma i
Another name for Oligodendroglioma is Oligodendroglioma. The cause of oligodendroglioma is unknown, but genetics may play a role. Genes control the functions ...
This case was histologically proven as an oligoastrocytoma (NOS) - WHO Grade II. NOTE: This case predates the 2016 WHO classification of CNS tumor revision. As no 1p19q co-deletion status is available a formal diagnosis cannot be reached and the...
A rare, slow-growing tumor that begins in the oligodendrocytes (brain cells that nourish and support nerve cells). Also called an oligodendroglial tumor.
Oligodendroglioma: Clinical Presentation, Pathology, Molecular Biology, Imaging, and Treatment features the latest cutting-edge molecular biology, molecular...
Oligodendroglioma is characterized by unique clinical, pathological, and genetic features. Recurrent losses of chromosomes 1p and 19q are strongly associated with this brain cancer but knowledge of the identity and function of the genes affected by these alterations is limited. We performed exome sequencing on a discovery set of 16 oligodendrogliomas with 1p/19q co-deletion to identify new molecular features at base-pair resolution. As anticipated, there was a high rate of IDH mutations: all cases had mutations in either IDH1 (14/16) or IDH2 (2/16). In addition, we discovered somatic mutations and insertions/deletions in the CIC gene on chromosome 19q13.2 in 13/16 tumours. These discovery set mutations were validated by deep sequencing of 13 additional tumours, which revealed seven others with CIC mutations, thus bringing the overall mutation rate in oligodendrogliomas in this study to 20/29 (69%). In contrast, deep sequencing of astrocytomas and oligoastrocytomas without 1p/19q loss revealed ...
OPINION STATEMENT: Anaplastic oligodendroglial tumors have gained increasing interest with the emerging role of molecular markers and systemic chemotherapy during the past years. The long-term results of two landmark trials, RTOG 9402 and EORTC 26961, have resulted in a reconsideration of the appropriate therapeutic approaches for patients with these tumors. Both trials indicate that patients whose tumors harbor a 1p/19q co-deletion benefit particularly from the addition of procarbazine/lomustine (CCNU)/vincristine (PCV) chemotherapy to radiation therapy (RT). The median survival of patients with co-deleted tumors treated within the RTOG trial with PCV before irradiation was 14.7 years compared with 7.3 years of patients who received RT alone. Median overall survival has not been reached in the RT plus PCV arm of the EORTC trial, but a similar difference can be anticipated after a follow-up of more than 12 years. In contrast, no such benefit was observed for patients with tumors lacking 1p/19q ...
These two tumour types comprise approximately one quarter of all gliomas with astrocytomas taking up the other three quarters.. What is the prognosis of patients with oligodendrogliomas? Oligodendrogliomas tend to be diagnosed more often than ependemyomas. The prognosis of patients with oliogodendrogliomas is better overall than that of patients with astrocytomas, however it worsens if the tumour progresses to the anaplastic stage. The evolution of oligodendrogliomas is similar to that of astrocytomas. If the tumour is caught in time, and treated, via means of surgery, the patient may be able to live up to ten years, and have a median survival rate of 5 years.. What do oligodendrogliomas appear like on the macroscopic and microscopic level? ...
All information about the latest scientific publications of the Clínica Universidad de Navarra. Recombinant AAV integration is not associated with hepatic genotoxicity in non-human primates and patients
The patient went on to have surgery and histology revealed the lesion to be an anaplastic oligoastrocytoma. Note: This case predates the recent (2016) revision WHO classification of CNS tumours, and thus molecular markers (IDH mutation and 1p19q...
The number of clinical, histopathologic, and molecular prognostic markers to estimate the outcome of patients with various types of gliomas, including low-grade gliomas, is steadily increasing (2, 32). In contrast, few studies have tried to distinguish markers that characterize the natural course of disease from markers that predict PFS and OS in response to specific therapeutic measures. The observation until first PD of surgically treated patients followed without adjuvant radiotherapy, or chemotherapy is the only way to determine whether a marker predicts outcome in the absence of adjuvant DNA-damaging treatment and is thus a prognostic marker independent of radiotherapy and chemotherapy. For instance, 1p/19q deletion is strongly predictive for prolonged PFS and OS in patients with anaplastic oligodendroglial tumors (WHO grade III) who are treated with radiotherapy or radiotherapy plus nitrosourea-based chemotherapy or temozolomide alone (14, 33, 34). Yet, 1p/19q deletion did not predict PFS ...
Grant] United States / NCRR NIH HHS / RR / P41 RR013218-098542; United States / NCRR NIH HHS / RR / U41 RR019703; United States / NIGMS NIH HHS / GM / R01 GM074068; United States / NCRR NIH HHS / RR / U41 RR019703-03S1; United States / NIBIB NIH HHS / EB / P41 EB015898; United States / NLM NIH HHS / LM / R01 LM007861; United States / NCRR NIH HHS / RR / P41 RR013218-02; United States / NCRR NIH HHS / RR / RR019703-03S1; United States / NCRR NIH HHS / RR / P41 RR013218; United States / NCRR NIH HHS / RR / RR013218-108434; United States / NCRR NIH HHS / RR / RR013218-098542; United States / NCI NIH HHS / CA / P01 CA067165; United States / NCRR NIH HHS / RR / P41 RR013218- ...
title: A rare case of oligodendroglioma with gangliocytic differentiation in a 31-year-old male: importance of genetic testing for IDH1/2, doi: 10.1007/s10014-020-00368-w, category: Article
The brain is part of the central nervous system (CNS). The CNS also includes the spinal cord. A tumor is an abnormal growth of tissue. An oligodendroglioma is a type of CNS tumor called a glioma.
Global Markets Directs, Oligodendroglioma - Pipeline Review, H2 2012, provides an overview of the indications therapeutic pipeline. This report provides information on the therapeutic development for Oligodendroglioma, complete with latest updates, and special features on late-stage and discontinued projects. It also reviews key players involved in the therapeutic development for Oligodendroglioma. Oligodendroglioma - Pipeline Review, Half Year is built using data and information sourced from Global Markets Directs proprietary databases, Company/University websites, SEC filings, investor presentations and featured press releases from company/university sites and industry-specific third party sources, put together by Global Markets Directs team. Note*: Certain sections in the report may be removed or altered based on the availability and relevance of data for the indicated disease.
[106 Pages Report] Check for Discount on Global Anaplastic Oligoastrocytoma Drug Market Research Report 2017 report by QYResearch Group. In this report, the global Anaplastic Oligoastrocytoma Drug market is...
Anaplastic oligodendroglial tumors are rare neoplasms with no standard approach to treatment. We sought to determine patterns of treatment delivered over time and identify clinical correlates of specific strategies using an international retrospective cohort of 1013 patients diagnosed from 19812007. Prior to 1990, most patients received radiotherapy (RT) alone as initial postoperative treatment. After 1990, approximately 50 of patients received both RT and chemotherapy (CT) sequentially and/or concurrently. Treatment with RT alone became significantly less common (67 in 19801984 vs 5 in 20052007, P | .0001). CT alone was more frequently administered in later years (0 in 19801984 vs 38 in 20052007; P | .0001), especially in patients with 1p19q codeleted tumors (57 of codeleted vs 4 with no deletion in 20052007; P | .0001). Temozolomide replaced the combination of procarbazine, lomustine, and vincristine (PCV) among patients who received CT alone or with RT (87 vs 2 in 20052007). In the most recent time
Is anyone familiar with this type of brain cancer called Anaplastic oligodendroglioma? I tried to research it and either found technical info or very
Oligoastrocytoma are diffusely growing glioma, that belong to the oligodendroglial tumours. These rare brain tumours are also called „mixed glioma, since they present with an appearance of two cell origin, astrocytoma and oligodendroglioma. Please note that the following threads of our forum are currently only available in German language. ...
SUAREZ, Julio César et al. Gliomas cerebrales de bajo grado en el adulto. Rev. argent. neurocir. [online]. 2008, vol.22, n.1. ISSN 1850-1532.. Objective. Gliomas reviewed in this article are grade II tumors according to the World Health Organization (WHO), that include: fibrillary and protoplasmic astrocytomas, oligodendrogliomas and oligoastrocytomas or mix tumors (1,2,3).Low grade astrocytomas constitute 15% of brain tumors in adults, while low grade oligodendrogliomas represent 4% (2,4). We present our experience with this type of tumor operated on between January 1972 and December 2006. Material and Method. The clinical reports of 25 patients with this type of tumor were analyzed, 15 women and 10 men, which represent 15,6% of hemispheric brain gliomas in adults in our series. Results. Fifteen were fibrillary astrocytomas, 8 oligodendrogliomas and 2 oligoastrocytomas. Treatment depended on tumor localization and size. Surgery and radiotherapy were the therapeutic modalities most frequently ...
Grant] United States / NINDS NIH HHS / NS / R01 NS053468; United States / NINDS NIH HHS / NS / NS34608; United States / NINDS NIH HHS / NS / R01 NS053468-03; United States / NINDS NIH HHS / NS / NS044687-26; United States / NINDS NIH HHS / NS / R01 NS034608; United States / NCI NIH HHS / CA / CA137488; United States / NINDS NIH HHS / NS / R37 NS044687-26; United States / NINDS NIH HHS / NS / R37 NS044687; United States / NINDS NIH HHS / NS / NS053468-03; United States / NINDS NIH HHS / NS / NS44687; United States / NCI NIH HHS / CA / R01 CA137488-15; United States / NCI NIH HHS / CA / CA137488-15; United States / NINDS NIH HHS / NS / R01 NS044687; United States / NCI NIH HHS / CA / R01 ...
Sigma-Aldrich offers abstracts and full-text articles by [J Gregory Cairncross, Meihua Wang, Robert B Jenkins, Edward G Shaw, Caterina Giannini, David G Brachman, Jan C Buckner, Karen L Fink, Luis Souhami, Normand J Laperriere, Jason T Huse, Minesh P Mehta, Walter J Curran].
Sixty-three of 100 patients had enhancing tumors at initial presentation. Presence of contrast enhancement at diagnosis was related to reduced TTR and OS on univariate analysis but was not significantly related on multivariate analysis. In enhancing tumors, however, greater initial volume of enhancing tissue correlated with shortened TTR (p = 0.00070). Reduced postoperative residual enhancing volume and a relatively greater resection of enhancing tissue correlated with longer OS (p = 0.0012 and 0.0041, respectively). Interestingly, patients in whom 100% of enhancing tumor was resected had significantly longer TTR (174 vs 64 weeks) and OS (392 vs 135 weeks) than those with any residual enhancing tumor postoperatively. This prognostic benefit was not consistently maintained with greater than 90% or even greater than 95% resection of enhancing tissue. There was no relationship between presence or volume of enhancement and del 1p/19q. ...
This is my first post as well so I will give you a little background first. I was diagnosed in September of 2003 with a grade II mixed Oligodendroglioma. I was given the option of doing nothing and taking a wait and see approach or being more aggressive and attempting to remove as much as possible with surgery. I chose the surgery option and they were able to remove about 2/3 of the tumor from my left frontal lobe. While I was on the table the surgeon spoke to my family and told them he could try to get the rest but he would have to remove so much good brain tissue that damage was likely and there was a large risk of me coming out of the surgery a different person. Fortunately my family made the right decision and decided against any further removal. I started Temodar in December of 2003 and continued that until February of 2006 with a lapse due to the onset of some severe side effects that required stopping treatment for about 4-5 months. My doctors were going to do radiation therapy but at the ...
This is my first post as well so I will give you a little background first. I was diagnosed in September of 2003 with a grade II mixed Oligodendroglioma. I was given the option of doing nothing and taking a wait and see approach or being more aggressive and attempting to remove as much as possible with surgery. I chose the surgery option and they were able to remove about 2/3 of the tumor from my left frontal lobe. While I was on the table the surgeon spoke to my family and told them he could try to get the rest but he would have to remove so much good brain tissue that damage was likely and there was a large risk of me coming out of the surgery a different person. Fortunately my family made the right decision and decided against any further removal. I started Temodar in December of 2003 and continued that until February of 2006 with a lapse due to the onset of some severe side effects that required stopping treatment for about 4-5 months. My doctors were going to do radiation therapy but at the ...
Learn more about Oligodendroglioma symptoms, diagnosis, and treatments from experts at Boston Childrens, ranked best Childrens Hospital by US News.
Min Aik Technology, a leading maker of hard disk drives (HDDs) components, have had increasing orders for parts for external (portable) HDDs mainly from Western Digital (WD) since 2006, and the increase will continue this year due to orders from new clients, according to industry sources.
Peutz-Jeghers Syndrome The risk for breast and ovarian cancer is increased with Peutz-Jeghers syndrome (PJS), a rare early-onset autosomal dominant disorder, associated with specific physical characteristics in addition to increased cancer risks. The features associated with Peutz-Jeghers syndrome may include the following: melanocytic macules (dark blue or brown moles) These moles may be located around and/or in the mouth (including the lips), and around the eyes, nostrils, and anus. Dark moles may als...
OBJECTIVES: I. Compare survival and time to first progression in patients with anaplastic oligodendroglioma treated with radiotherapy with or without adjuvant procarbazine, lomustine, and vincristine (PCV) following surgical resection. II. Investigate the effect of PCV on quality of life and neurologic function in these patients. III. Determine the toxicity of PCV in these patients. IV. Correlate chromosomal lesions (1p and/or 19q, 9p, p53 loss and mutation, amplification of chromosome 7, or loss of chromosome 10) with progression-free and overall survival in patients treated with these regimens.. OUTLINE: This is a randomized, multicenter study. Patients are stratified according to age, extent of resection, performance status, prior surgery, and participating center. Patients are randomized to one of two treatment arms. Arm I: Within 4-6 weeks after surgery, patients undergo radiotherapy over 7 weeks to the residual tumor volume. Arm II: Patients undergo radiotherapy as in arm I, then begin ...
Pathological differentiation of oligodendroglioma and mixed oligoastrocytoma from astrocytoma is difficult, relying on morphological characteristics due to the lack of reliable immunohistochemical stains. Oligodendrocytes, the presumed cell of origin of oligodendrogliomas, highly express the genes encoding myelin basic protein (MBP) and proteolipid protein (PLP). We analyzed the expression of these genes to determine whether they might be useful molecular markers of oligodendrocytic tumors. MBP and PLP were highly expressed in all oligodendrogliomas and minimally expressed in glioblastomas multiforme. MBP was highly expressed in mixed oligoastrocytomas, whereas PLP expression was minimal. The association between tumor classification and expression of the MBP and PLP genes was statistically significant. Expression of these genes may serve as a useful molecular marker for some subtypes of human gliomas. ...
Differentiating low-grade astrocytomas from low-grade oligodendrogliomas preoperatively with use of imaging is important for several reasons. First, these two tumor types are well-defined, clinicopathologic entities with distinct biologic and prognostic characteristics for which distinction based on histopathologic evaluation, the current reference standard, can be difficult and not without error (2, 3, 11). The histopathologic evaluation of low-grade glioma is challenged by a mixed cellular component in a given tumor that can lead to subjective criteria for determining the cell of origin, inherent sampling error associated with a surgical tissue specimen, and lack of specific tumor markers. Preoperative anatomic imaging already plays a complementary role by providing information on tumor location, surgical resectablity, satellite focus of tumor, and reactive changes in the adjacent brain-all of which are important factors influencing treatment and outcome, but which cannot be assessed directly ...
Two hundred and twenty-two patients with Peutz-Jeghers syndrome were ascertained in Japan between 1961 and 1974 through two nationwide surveys, medical literature, and personal examinations. Genetic analysis was made of this group as well as 102 follow-up cases. The average age at diagnosis was 23 i …
By siteadmin. Maytte Bustillios was given two years to live after the discovery of a cancerous tumor in her brain (Oligodendroglioma). Now, seven years and three craniotomies later, she talks to Shelley Berman about her fitness routine, mothering a child with a heart problem and dealing with the daily limitations of disability. With an analysis of … Continued ...
Complete information for PTOV1 gene (Protein Coding), PTOV1 Extended AT-Hook Containing Adaptor Protein, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
For the first time, the WHO classification of brain tumors has introduced molecular parameters in the diagnosis of brain tumors. Together with embryonal tumors, the diffuse gliomas have suffered significant changes in diagnosis, prognosis, and response to treatment. A new concept of
There are no specific protocols for Recombinant human Kallikrein 1 protein (ab117200). Please download our general protocols booklet
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Cytogenic location: 9p13.3 Located on chromosome 9 in the human genome. It starts at base pair 35,814,451, and ends at ... It encodes for a transmembrane protein that is 338 amino acids long, and is located on human chromosome 9. Aliases associated ... One human paralog was found when this protein was sequenced in BLAST. It is 416 amino acids long, with 40% sequence identity, ... Human TMEM8B genome location and TMEM8B gene details page in the UCSC Genome Browser. Online Mendelian Inheritance in Man (OMIM ...
Nuclear DNA in a human consists of 22 pairs of autosomes and two sex chromosomes. The 22 pairs of autosomes are derived half ... Early human kinship was matrilineal. In N. J. Allen, H. Callan, R. Dunbar and W. James (eds.), Early Human Kinship. Oxford: ... "Hierarchical patterns of global human Y-chromosome diversity". Mol Biol Evol. 18 (7): 1189-203. doi:10.1093/oxfordjournals. ... contains fewer genes than an X chromosome because it is shorter and is one of his two sex chromosomes, the other being the X ...
As this karyotype displays, a diploid human cell contains 22 pairs of homologous chromosomes and 2 sex chromosomes.. Section ... chromosomes." For example, the number of homologous sets of chromosomes in humans is 23 if one considers a "set" to be one pair ... Number of homologous pairs[edit]. The introduction states: a typical human somatic cell contains [...] 23 homologous chromosome ... What about the X chromosome and Y chromosome in male humans? By the definition they do not belong to any homologous set, since ...
... has no human paralogs. Orthologous proteins are found in other organisms. The following table represents some of the ... The gene is 4041 base pairs in length and contains 29 exons. The gene is neighbored by the gene SIRT6 that encodes for the ... The gene is located on chromosome 19 at p13.3 on the forward strand. ... Ankyrin repeat domain-containing protein 24 is a protein in humans that is coded for by the ANKRD24 gene. The gene is also ...
"320 million base pairs . . . comprising more than 10% of the human genome." They discovered that chromosome 19 has the highest ... "GNN - Two More Human Chromosomes Are Complete". www.genomenewsnetwork.org. Retrieved 2017-03-02. Grimwood, Jane; Gordon, Laurie ... gene density of any human chromosome, and were able to link certain genes on the chromosome to genetic diseases including ... Grimwood was an important part of the Human Genome Project effort, working from the Stanford Human Genome Center. Grimwood ...
Using UCSC genome browser BLAT against the human protein sequence it was found that the closest relative to humans to contain a ... Transmembrane Protein 205 (TMEM205) is a protein encoded on chromosome 19 by the TMEM205 gene. TMEM205 is located on the minus ... The human homologue of TMEM205 is 189 amino acids long and has a molecular weight of 21.2 kDa. It contains 4 hydrophobic ... It has been shown to be located at the plasma membrane in humans tissues and translocates to the nuclear envelope when cells ...
The LENG9 gene is 1,930 base pairs in length and contains one exon. Genes LENG8-AS1 and CDC42EP5 neighbor LENG9 on chromosome ... human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-05-06. Database, GeneCards Human Gene. "LENG9 Gene - GeneCards , ... Human expression of LENG9 is observed in the cervix, lung, and placenta of adults. The gene is also expressed in disease states ... In humans, LENG9 has two mRNA unspliced transcript variants. Variant (1) is the longest and most conserved transcript of the ...
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 ... 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 ... Coiled-coil domain containing 94 (CCDC94), is a protein that in humans is encoded by the CCDC94 gene. The CCDC94 protein ...
The MORN1 gene is located on Chromosome 1 at locus 1p36.33 and contains 7 MORN repeats. It has 1641 base pairs in 14 exons in ... 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. Bibcode:2006Natur.441.. ... MORN1 containing repeat 1, also known as Morn1, is a protein that in humans is encoded by the MORN1 gene. The function of Morn1 ... MORN1 is nearby the SKI gene which encodes the SKI protein, LOC100129534, and RER1 gene on the positive strand of chromosome 1. ...
The cytogenetic location of BCKDHA is on the human chromosome 19, specifically on the cytogenetic band at 19q13.2. This the ... Looking at the molecular location, the base pairs 41,397,789 to 41,425,005 are on chromosome 19. The cellular localization of ... by finding what gene in the pool of human chromosomes was defecting the urine. He found the gene on the level of the ... to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31". Genomics. 10 (3): 740-7. doi:10.1016/0888-7543(91)90458-Q. ...
... is from base pair 50,384,290 to base pair 50,418,018 on chromosome 19.[26] The mouse orthologue maps to mouse chromosome 7.[27] ... in human Homo sapiens Mus musculus Saccharomyces cerevisiae Schizosaccharomyces pombe A (catalytic) p125 POLD1-Chr 19q13.3 ... Table 1: Gene names and chromosomal locations for the various subunits of polymerase delta in human, mouse, budding and fission ... Figure 2: Conserved motifs in the exonuclease domain of human p125. Motifs I to III are conserved in the B-family of ...
This gene in human cells results in the release of cytochrome c and apoptosis. This protein plays a role in maintaining the ... The TIMM50 gene is located on the q arm of chromosome 19 in position 13.2 and spans 13,373 base pairs. The gene produces a 39.6 ... Mitochondrial import inner membrane translocase subunit TIM50 is an protein that in humans is encoded by the TIMM50 gene. Tim50 ... February 2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nature Cell ...
In humans, C19orf67 is located on the minus strand of Chromosome 19 at 19p13.12 and spans 4,163 base pairs (bp). The following ... "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529-35. Bibcode:2004Natur.428..529G. doi:10.1038/ ... In humans, UPF0575 protein C19orf67 is highly expressed in the testis and breast tissue, although it is also expressed at low ... "Human BLAT Search". genome.ucsc.edu. Retrieved 2017-03-02. github.com/gxa/atlas/graphs/contributors, EMBL-EBI Expression Atlas ...
Related pseudogenes have also been identified on four other chromosomes. The human NDUFA7 gene codes for a subunit of Complex I ... The NDUFA7 gene is located on the p arm of chromosome 19 in position 13.2 and spans 12,618 base pairs. The gene produces a 12.5 ... NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 7 is an enzyme that in humans is encoded by the NDUFA7 gene. The ... Ton C, Hwang DM, Dempsey AA, Liew CC (Jan 1998). "Identification and primary structure of five human NADH-ubiquinone ...
The human NDUFA13 gene codes for a subunit of Complex I of the respiratory chain, which transfers electrons from NADH to ... The NDUFA13 gene is located on the p arm of chromosome 19 in position 13.2 and spans 11,995 base pairs. The gene produces a 17 ... NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13 is an enzyme that in humans is encoded by the NDUFA13 gene. The ... Chidambaram NV, Angell JE, Ling W, Hofmann ER, Kalvakolanu DV (2000). "Chromosomal localization of human GRIM-19, a novel IFN- ...
Nuclear DNA in a human consists of 22 pairs of autosomes and two sex chromosomes. The 22 pairs of autosomes are derived half ... Evolution & Human Behavior 24: 99-112. Full text. *Knight, C. 2008. Early human kinship was matrilineal. In N. J. Allen, H. ... Early human kinship was matrilineal. In N. J. Allen, H. Callan, R. Dunbar and W. James (eds.), Early Human Kinship. Oxford: ... "Hierarchical patterns of global human Y-chromosome diversity". Mol Biol Evol. 18 (7): 1189-203. doi:10.1093/oxfordjournals. ...
Uncharacterized protein C14orf80 is a protein which in humans is encoded by the chromosome 14 open reading frame 80, C14orf80, ... Only six of these nineteen variants are predicted to not encode for a protein. Of the mRNA variants that have been found ... C14orf80 is 9,393 base pairs long and contains 11 exons that can be alternatively spliced to form different mRNA variants. ... DeGrado-Warren J1, Dufford M, Chen J, Bartel PL, Shattuck D, Frech GC.) High-Throughput Proteomic Mapping of Human Interaction ...
The human PRR36 gene consists of 7 exons and is 5723 base pairs long. PRR36 is located on the short arm of human chromosome 19 ... both on human chromosome 19 and other chromosomes, tend to more frequently produce proteins that are involved in protein- ... The gene spans between base pair numbers 7868719 and 7874441 on chromosome 19 and is located between two other genes-LYPLA2P2, ... DUF4596 on human PRP36 is 47 amino acids long, has an isoelectric point of 3.77, and is almost completely conserved across ...
The CEP89 gene is located on the q arm of chromosome 19 at position 13.11 and it spans 96,104 base pairs. The CEP89 gene ... "CEP89 - Centrosomal protein of 89 kDa - Homo sapiens (Human) - CEP89 gene & protein". Retrieved 2018-08-07. This article ... GRCh38: Ensembl release 89: ENSG00000121289 - Ensembl, May 2017 "Human PubMed Reference:". National Center for Biotechnology ... Human Molecular Genetics. 22 (15): 3138-51. doi:10.1093/hmg/ddt170. PMID 23575228. Sillibourne, JE; Specht, CG; Izeddin, I; ...
Chromosome 19 open reading frame 70, also known as QIL1, MICOS complex subunit MIC13 (MIC13) or Protein P117 is a protein that ... in humans is encoded by the C19orf70 gene. The C19orf70 gene is located on the p arm of chromosome 19 at position 13.3 and it ... spans 2,482 base pairs. The C19orf70 gene produces a 9.7 kDa protein composed of 88 amino acids. The C19orf70 gene encodes for ... "Entrez Gene: Chromosome 19 open reading frame 70". "MIC13 - MICOS complex subunit MIC13 - Homo sapiens (Human) - MIC13 gene & ...
Located on chromosome 9 at area q21.3, the entire gene including introns and exons is 375,010 base pairs on the plus strand. ... The main isoform of the human protein is 1801 amino acids long, a total of 200,072 Da. Two distinct domains of unknown function ... KIAA1797 is a protein that in humans is encoded by the KIAA1797 gene. A specific single-nucleotide polymorphism rs7875153 in ... KIAA1797 was determined to express ubiquitously at varying levels throughout the human body. Based on the EST profile of ...
2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs ... The RSPH6A gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2). GRCh38: Ensembl ... of the axoneme of eukaryotic flagella and are located between the axoneme's outer ring of doublet microtubules and central pair ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
The COX6B2 gene, located on the q arm of chromosome 19 in position 13.42, contains 5 exons and is 5,113 base pairs in length. ... Human COX6B2 genome location and COX6B2 gene details page in the UCSC Genome Browser. Mass spectrometry characterization of ... Cytochrome c oxidase subunit VIb polypeptide 2 is a protein that in humans is encoded by the COX6B2 gene. Cytochrome c oxidase ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Mouse PubMed ...
The FAM129C gene is 30,538 base pairs long and is mapped to 19p.13.112 on chromosome 19 (NC_000019.10) from 17523301 to ... "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529-535. Bibcode:2004Natur.428..529G. doi:10.1038/ ... In the human GEO profile, FAM129C appears to be expressed at lower levels in tissues with dilated cardiomyopathy by almost 50% ... Chromosome 19 has highest gene density of all human chromosomes and large clustered gene families corresponding to high G + C ...
The TMEM221 gene is 13,159 base pairs long, contains three exons, and is located on the short arm of chromosome 19 at 19p13.11 ... A human disease known to be associated with TMEM221 is amoebiasis, a digestive infection caused by the amoeba Entamoeba ... The longest transcript of TMEM221 is 2,301 base pairs longs. It has one X1 isoform that is 1,547 base pairs long and contains ... Transmembrane protein 221 (TMEM221) is a protein that in humans is encoded by the TMEM221 gene. The function of TMEM221 is ...
The human NDUFA3 gene codes for a subunit of Complex I of the respiratory chain, which transfers electrons from NADH to ... The NDUFA3 gene is located on the q arm of chromosome 19 at position 13.42, and it has a total span of 4,123 base pairs. The ... NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3 is a protein that in humans is encoded by the NDUFA3 gene. The ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Mouse PubMed ...
"Assignment of the gene coding for human cytochrome c oxidase subunit VIb to chromosome 19, band q13.1, by fluorescence in situ ... contains 4 exons and is 10,562 base pairs in length. The COX6B1 protein weighs 10 kDa and is composed of 86 amino acids. The ... Cytochrome c oxidase subunit 6B1 is an enzyme that in humans is encoded by the COX6B1 gene. Cytochrome c oxidase 6B1 is a ... Human COX6B1 genome location and COX6B1 gene details page in the UCSC Genome Browser. Mass spectrometry characterization of ...
"TMPRSS2-ERG gene fusion causing ERG overexpression precedes chromosome copy number changes in prostate carcinomas and paired ... Teng DH, Chen Y, Lian L, Ha PC, Tavtigian SV, Wong AK (June 2001). "Mutation analyses of 268 candidate genes in human tumor ... Transmembrane protease, serine 2 is an enzyme that in humans is encoded by the TMPRSS2 gene. This gene encodes a protein that ... TMPRSS2-ERG fusion gene is the most frequent, present in 40% - 80% of prostate cancers in humans. ERG overexpression ...
With 150 billion base pairs of DNA per cell (50 times larger than that of a human haploid genome), Paris japonica may possess ... An octoploid and suspected allopolyploid hybrid of four species, it has 40 chromosomes. ... Paris japonica has the largest genome of any plant yet assayed, about 150 billion base pairs long. ... whose 130 billion base pairs weigh in at 132.83 picograms per cell. Since then, other organisms have been assayed and reported ...
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. ...
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 ...
Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene.[5] ... Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... Poleev A, Fickenscher H, Mundlos S, Winterpacht A, Zabel B, Fidler A, Gruss P, Plachov D (November 1992). "PAX8, a human paired ... Members of this gene family typically encode proteins which contain a paired box domain, an octapeptide, and a paired-type ...
... is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6 (not to be ... 1 million base pairs centromeric from DQ2.5 may also be associated with Type 1 diabetes. In addition the BAT1 and MICB variant ... These unique chromosomes are produced by recombination of each unique chromosome passed by each grandparent to each parent. ... At 4.7 million nucleotides in length, A1::DQ2 is the second longest haplotype identified within the human genome.[1] A1::DQ2 ...
By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... "American Journal of Human Genetics. 64 (1): 225-31. doi:10.1086/302198. PMC 1377721. PMID 9915962.. ... Van Den Berghe, Pierre L (2010). "Human inbreeding avoidance: Culture in nature". Behavioral and Brain Sciences. 6: 91-102. doi ... HumansEdit. See also: Incest, Incest taboo, Pedigree collapse, and Cousin marriage ...
... 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". ...
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 ...
... 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 ...
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 ... 19 (3): 185-92. doi:10.1007/BF03188920. PMID 7867660.. *^ Hopfinger AJ, Reaka A, Venkatarangan P, Duca JS, Wang S (Sep 1999). " ...
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 ...
"A Y Chromosome Census of the British Isles" (PDF).. *^ Härke, Heinrich; Thomas, Mark G; Stumpf, Michael P H. "Integration ... earthsky.org/human-world/jawbone-is-earliest-evidence-of-modern-humans-in-europe ... 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 ... "Immunochemical detection of proteins related to the human c-myc exon 1". EMBO J. 5 (9): 2241-50. PMC 1167107. PMID 2430795 ...
"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). Bjmg.edu.mk. Retrieved 20 December 2016. ... and art present romanticized narratives of mystical powers of fortune telling or irascible or passionate temper paired with an ... Hancock 2002, p. xix. *^ a b Hancock 2002, p. xxi. *^ Marushiakova, Elena; Popov, Vesselin (2001), "Historical and ethnographic ...
Modern Human Origins, and Complex Disease Mapping, Annual Review of Genomics and Human Genetics" (pdf). 9. Retrieved December ... In the 2003 PBS programme African American Lives, Bishop T.D. Jakes had his DNA analyzed; his Y chromosome showed[dubious - ... Igbo women were paired with Coromantee (Akan) men to subdue the men because of the belief that the women were bound to their ... Institute for the Study of Human Issues.. *^ ". Chisholm, Hugh, ed. (1911). "Ibo". Encyclopædia Britannica. 14 (11th ed.). ...
... a minimal reference phylogeny for the human Y chromosome". Human Mutation. 35 (2): 187-91. doi:10.1002/humu.22468. PMID ... Position (base pair): 180. Total size (base pairs): 366. Forward 5′→ 3′: aactcttgataaaccgtgctg. Reverse 5′→ 3′: ... a b c The Y Chromosome Consortium 2008 *^ a b c d e f g Cristofaro; et al. (2013). "Afghan Hindu Kush: Where Eurasian Sub- ... 2004). "Excavating Y-chromosome haplotype strata in Anatolia". Human Genetics. 114 (2): 127-48. doi:10.1007/s00439-003-1031-4. ...
"The Y Chromosome Pool of Jews as Part of the Genetic Landscape of the Middle East". The American Journal of Human Genetics. 69 ... that overlies Druze and Cypriot samples but not samples from other Levantine populations or paired Diaspora host populations. ... "American Journal of Human Genetics. 86 (6): 850-9. doi:10.1016/j.ajhg.2010.04.015. PMC 3032072. PMID 20560205.. ... "European Journal of Human Genetics. 15 (4): 498-500. doi:10.1038/sj.ejhg.5201764. PMID 17245410.. ...
The genotype of the male consists of a Y chromosome paired with an X chromosome. Female gender is determined by the absence of ... Redirected from Human male reproductive system). This article is about the reproductive system in human males. For the male ... This occurs when one X chromosome contains a segment of the Y chromosome, which was inserted into the X chromosome of the ... If this sperm cell contains an X chromosome it will coincide with the X chromosome of the ovum and a female child will develop ...
SMN1 is located in a telomeric region of human chromosome 5 and also contains SMN2 in a centromeric region. SMN1 and SMN2 are ... This single base pair change leads to only 10-20% of SMN2 transcripts resulting in fully functional SMN protein and 80-90% of ... European Journal of Human Genetics : EJHG. 21 (6): 643-52. doi:10.1038/ejhg.2012.222. PMC 3658191. PMID 23073311.. ... American Journal of Human Genetics. 85 (3): 408-13. doi:10.1016/j.ajhg.2009.08.002. PMC 2771537. PMID 19716110.. ...
... arm of chromosome 20 between the end (terminus) of the arm and position 12, from base pair 4,615,068 to base pair 4,630,233. ... of a human gene homologous to the PrP gene on the p arm of chromosome 20 and detection of PrP-related antigens in normal human ... "Assignment of the human and mouse prion protein genes to homologous chromosomes". Proc. Natl. Acad. Sci. U.S.A. 83 (19): 7358- ... thought to be due to human ingestion of diseased individuals, and vCJD, thought to be due to human ingestion of BSE-tainted ...
They gathered subjects with a mean age of 59, who included 99 pairs of identical twins, and 229 pairs of fraternal twins who ... "Human Intelligence.. *^ a b c Alan, E.S. (2012). "Issues in Birth Order Research Methodology: Perspectives from Individual ... This is very rare and is due to there being a smaller possibility of inheriting the same chromosomes from the shared parent. ... They also gathered twins who were reared together: 160 pairs of identical twins, and 212 pairs of fraternal twins. They studied ...
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. ...
Therefore, the sperms are not identical, because in each chromosome of a pair there will be different alleles at many of the ... The diploid queen has 32 chromosomes and the haploid drones have 16 chromosomes. Drones produce sperm cells that contain their ... Y chromosome. References[edit]. *^ King, R.C; Stansfield, W.D.; Mulligan, P.K. (2006). A dictionary of genetics (7th ed.). ... As long as a female has mated with only one male, all her daughters share a complete set of chromosomes from that male. In ...
Regions on chromosomes 7 and 19 were recently reported to contain susceptibility loci that regulate tumor aggressiveness of ... Chromosome Mapping* * Chromosomes, Human, Pair 19* * Genetic Predisposition to Disease / genetics * Humans ... Confirmation of linkage of prostate cancer aggressiveness with chromosome 19q Am J Hum Genet. 2003 Mar;72(3):759-62. doi: ... Regions on chromosomes 7 and 19 were recently reported to contain susceptibility loci that regulate tumor aggressiveness of ...
Chromosome Mapping * Chromosomes, Human, Pair 19 / genetics* * Female * Genes, Dominant * Genetic Linkage ... A gene predisposing to familial thyroid tumors with cell oxyphilia maps to chromosome 19p13.2 Am J Hum Genet. 1998 Dec;63(6): ... TCO was mapped to chromosome 19p13.2 by linkage analysis with a whole-genome panel of microsatellite markers. Interestingly, ...
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. ...
Chromosome 19 spans about 59 million base pairs (the building blocks of DNA) and represents almost 2 percent of the total DNA ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 19, one copy inherited from ... Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a ... Gilbert F. Disease genes and chromosomes: disease maps of the human genome. Chromosome 19. Genet Test. 1997;1(2):145-9. ...
Chromosomes, Human, Pair 19*. DNA / genetics, isolation & purification. Female. Genes, Dominant. Haplotypes. Humans. Male. ... two stretches of the affected chromosome had been exchanged with that region of the wild-type chromosome.. ...
... gene located in chromosome region 19q13.3. Unaffected individuals carry alleles with r ... Chromosome Mapping. Chromosomes, Human, Pair 19. Embryo, Mammalian / metabolism. Fathers. Female. Fertilization. Fertilization ... Humans. Male. Mothers. Mutation*. Myotonic Dystrophy / genetics*. Protein-Serine-Threonine Kinases / genetics. Repetitive ... Previous Document: Sex-specific, male-line transgenerational responses in humans.. Next Document: Abolishing Trp53-dependent ...
Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 19". Genet Test. 1 (2): 145-9. ... The following is a partial list of genes on human chromosome 19. For complete list, see the link in the infobox on the right. ... "Human chromosome 19: 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 19. Because researchers use different approaches to ...
Chromosomes, Human, Pair 13 - genetics Chromosomes, Human, Pair 9 - genetics Genes, Recessive Genetic Linkage Humans Phenotype ... Chromosomes, Human, Pair 11 - genetics Chromosomes, Human, Pair 9 - genetics Female Finland Genetic markers Genetic ... Chromosomes, Human, Pair 9 - genetics Cohort Studies DNA Mutational Analysis De Lange Syndrome - genetics Female Humans Male ... Chromosome Mapping Chromosomes, Human, Pair 9 - genetics Comorbidity Genetic Linkage Genetic markers Genetic Predisposition to ...
Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e. ... Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 19". Genet Test. 1 (2): 145-9. ... G-bands of human chromosome 19 in resolution 850 bphs[20] Chr. Arm[21] Band[22] ISCN. start[23] ISCN. stop[23] Basepair. start ... human). File:Human male karyotpe high resolution - Chromosome 19 cropped.png. Human chromosome 19 pair after G-banding.. One is ...
MeSH Terms: Adult; African Americans/genetics; Aged; Alleles; Asian Continental Ancestry Group/genetics; Chromosomes, Human, ... Pair 19/genetics; Colonic Neoplasms/ethnology; Colonic Neoplasms/genetics*; Female; Gene Frequency; Genetic Predisposition to ... The vision of NIEHS is to use environmental health sciences to understand human disease and improve human health. Use the ... NIEHS research uses state-of-the-art science and technology to investigate the interplay between environmental exposures, human ...
This represents, to our knowledge, the first individual human case of paternal uniparental disomy for chromosome 19 (UPD19). ... cytogenetic and molecular data for a pair of monochorionic diamniotic twins with paternal isodisomy for chromosome 19. Both ... Losses of imprinting for known imprinted genes on chromosome 19 were identified, including ZNF331, PEG3, ZIM2 and MIMT1. In ... 7 Department of Human Genetics, Donders Institute, Radboud University Medical Center, Nijmegen, The Netherlands ...
Chromosome 2 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 2 ... is the second largest human chromosome, spanning more than 237 million base pairs (the building material of DNA) and ... Researchers have found that a small fragment of the genetic code that has been inherited by modern humans from Neanderthals ... Researchers identify new protein complex that regulates chromosome separation Researchers from the University of Tsukuba have ...
Little is known about mechanisms that efficiently partition chromosomes to produce sperm. Using live imaging and tomographic ... Chromosome segregation during male meiosis is tailored to rapidly generate multitudes of sperm. ... reconstructions of spermatocyte meiotic spindles inCaenorhabditis elegans, we find the lagging X chromosome, a distinctive ... elegans males, is due to lack of chromosome pairing. The unpaired chromosome remains tethered to centrosomes by lengthening ...
Human somatic cells (any cell other than a gamete) have 23 pairs of chromosomes. (have 2 of every chromosome) ... At the metaphase plate, there are paired homologous chromosomes (tetrads), instead of individual replicated chromosomes. -At ... each pair of chromosomes sorts maternal and paternal homologs into daughter cells independently (differently) of the other ... each half of the cell has a haploid set of chromosomes; each chromosome still consists of two sister chromatids ...
The LENG9 gene is 1,930 base pairs in length and contains one exon. Genes LENG8-AS1 and CDC42EP5 neighbor LENG9 on chromosome ... human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-05-06. Database, GeneCards Human Gene. "LENG9 Gene - GeneCards , ... Human expression of LENG9 is observed in the cervix, lung, and placenta of adults. The gene is also expressed in disease states ... In humans, LENG9 has two mRNA unspliced transcript variants. Variant (1) is the longest and most conserved transcript of the ...
... dogs have 78 chromosomes (39 pairs); and humans have 46 chromosomes (23 pairs) - all with about 24,000 genes. Thats not many ... was found on chromosome 9 in dogs before discovering it on chromosome 17 in humans. ... They line chromosome profiles up- side by side, cut and paste, focus on tinier sections, and find similarities of position ... All genes come as pairs- one from the mother and one from the father. The breed choice wasnt important because all dogs are ...
... is from base pair 50,384,290 to base pair 50,418,018 on chromosome 19.[26] The mouse orthologue maps to mouse chromosome 7.[27] ... in human Homo sapiens Mus musculus Saccharomyces cerevisiae Schizosaccharomyces pombe A (catalytic) p125 POLD1-Chr 19q13.3 ... Table 1: Gene names and chromosomal locations for the various subunits of polymerase delta in human, mouse, budding and fission ... Figure 2: Conserved motifs in the exonuclease domain of human p125. Motifs I to III are conserved in the B-family of ...
The study uncovered how female clones double their chromosomes ... ... Hokkaido University researchers have developed a technique that allows them to track chromosomes during egg production in dojo ... Human settlements in Amazonia much older than previously thought. 2 hours ago ... Clonal reproduction assured by sister chromosome pairing in dojo loach, a teleost fish, Chromosome Research (2018). DOI: ...
Chromosomes, Human, Pair 19/*genetics; Genetic Loci/genetics; Multigene Family/*genetics; Proteins/chemistry/*metabolism; ... endogenously-expressed pri-miRNAs generated at the human imprinted chromosome 19 microRNA cluster (C19MC), from the environment ... Cell Line, Tumor; Humans; Models, Biological; Protein Binding; Genomic Imprinting/*genetics; Gene Expression Regulation; ...
As this karyotype displays, a diploid human cell contains 22 pairs of homologous chromosomes and 2 sex chromosomes.. Section ... chromosomes." For example, the number of homologous sets of chromosomes in humans is 23 if one considers a "set" to be one pair ... Number of homologous pairs[edit]. The introduction states: a typical human somatic cell contains [...] 23 homologous chromosome ... What about the X chromosome and Y chromosome in male humans? By the definition they do not belong to any homologous set, since ...
Adult, Child, Chromosomes; Human; Pair 19/*genetics, Erythroblasts, Genotype, Hematologic Diseases/*genetics, Humans, Linkage ( ... gene region on chromosome 19q13.2 and performed sequence analysis of all exons in the RPS19 gene in seven TEC sibling pairs. ... Familial transient erythroblastopenia of childhood is associated with the chromosome. Gustavsson, Peter Uppsala University, ...
28) 23 pairs of chromosomes in the human body. 31) 6 balls to an over in cricket, Im not sure you would know that.... hope ... 28) 23 pairs of chromosomes in the human body. 31) 6 balls to an over in cricket, Im not sure you would know that.... hope ... 19 13=UFS ?? 20 8 T on a O ?? 21 29 D in F in a L Y 29 days in February in a leap year 22 27 B in the N T ?? 23 365 D in a Y ... 19) 13 is unlucky for some. 20) 8 tentacles on an octopus. ... 19) 13 is unlucky for some. 20) 8 tentacles on an octopus. ...
While humans have 23 chromosome pairs, dogs have 39 and some rodents 52. Left: Rearrangements of the original 21 pairs of ... Humans have five such chromosomes and mice have just one. The researchers also showed that ancestral chromosome 20 is ... 2016) The Divergence of Neandertal and Modern Human Y Chromosomes The American Journal of Human Genetics 98 728-734. ... The human nuclear genome has 3 billion base pairs coding 19,000-20,000 genes, but the mitochondrion now has only 16,569 bp with ...
Most of the remainder of normal chromosomes were usually paired, but chromosome N2 was triple. Nineteen marker chromosomes were ... The cell line is aneuploid human female (XX), with most chromosome counts in the 55 to 60 range. Normal chromosomes N6, N11, ... while three are recognized as derivatives of chromosome N6. Regions of a third copy of the normal and paired chromosomes N3, ... Organism: Homo sapiens, human / Cell Type: melanocyte,Melanoma / Tissue: previously described as: mammary gland/breast; derived ...
Chromosomes, Human, Pair 17. 1. 1991. 19. 0.130. Why? Coat Protein Complex I. 1 ...
There is a race going on to lower the cost human gene sequencing to a level of a comprehensive battery of blood tests. The ... called chromosomes. These strands are paired, connected side to side along their lengths. Humans have 23 pairs of chromosomes. ... These strands are paired, connected side to side along their lengths. Humans have 23 pairs of chromosomes. www.Options-Trading- ... The human genome is the sum total of all human genes.Human genes are present on long strands of DNA (complex molecules) called ...
To compensate for this, one of each pair of X-chromosomes is silenced [19]. Many humans have multiple L and M genes - we are ... Human photoreceptor topography. J Comp Neurol. 1990;292(4):497-523. doi: 10.1002/cne.902920402. [PubMed] [Cross Ref] ... Sex chromosomes and brain gender. Nat Rev Neurosci. 2004;5(9):701-8. doi: 10.1038/nrn1494. [PubMed] [Cross Ref] ... X-chromosome inactivation. Curr Biol. 1999;9(7):R235-7. doi: 10.1016/S0960-9822(99)80151-1. [PubMed] [Cross Ref] ...
The analysis confirmed 50 eSNP-eGenes pairs reported by Peng et al. (2017) and thus, can be claimed as robust placental eQTL ... The analysis confirmed 50 eSNP-eGenes pairs reported by Peng et al. (2017) and thus, can be claimed as robust placental eQTL ... The knowledge of genetic variants shaping human placental transcriptome is limited and they are not cataloged in the Genotype- ... The knowledge of genetic variants shaping human placental transcriptome is limited and they are not catalogued in the Genotype- ...
Chromosomes, Human, Pair 19 Inborn Genetic Diseases Core signaling pathways in human pancreatic cancers revealed by global ... Confirmation of linkage to ocular refraction on chromosome 22q and identification of a novel linkage region on 1q. Klein, A., ... EPHA2 is associated with age-related cortical cataract in mice and humans. Jun, G., Guo, H., Klein, B. E. K., Klein, R., Jie, J ... Environmental covariates: Effects on the power of sib-pair linkage methods. Mandal, D. M., Sorant, A. J. M., Pugh, E., Marcus, ...
Noticeably in addition to three copies of X chromosomes, there were paired Xq+ and a single Xp+ in most cells. The Ad insert ... Human Embryo Kidney Cell Line Description Transformed with sheared human Ad5 DNA. Sensitive to human adenoviruses and ... This is a hypotriploid human cell line. The modal chromosome number was 64, occurring in 30% of cells. The rate of cells with ... The human embryonic kidney 293 cell line has been used:. • to study the effects of the Bt insecticidal toxins Cry1Ab and Cry1Ac ...
  • The results of previous findings, together with our results, provide strong evidence that chromosome 19 harbors a gene for tumor aggressiveness. (nih.gov)
  • Haplotype data of six polymorphic markers in the DM gene region indicate that, in this latter case, two stretches of the affected chromosome had been exchanged with that region of the wild-type chromosome. (biomedsearch.com)
  • One form of myotonic dystrophy, dystrophia myotonica 1 (DM1), is caused by the expansion of a (CTG)(n) repeat within the dystrophia myotonica-protein kinase (DMPK) gene located in chromosome region 19q13.3. (biomedsearch.com)
  • The following are some of the gene count estimates of human chromosome 19. (wikidoc.org)
  • Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction ). (wikidoc.org)
  • So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (wikidoc.org)
  • Gene coding regions constitute 2% of the human genome. (news-medical.net)
  • Gene map locus 19q13.4 FUT1: The H locus is located on chromosome 19 at 19q13.3. (wikipedia.org)
  • Polymerase (DNA) delta 1, catalytic subunit and POLD1 are the name and gene symbol approved by the Human Genome Organization (HUGO) Gene Nomenclature Committee (HGNC). (wikipedia.org)
  • [26] Table 1 provides gene names and chromosomal locations for the various subunits of Polδ in humans, mice, budding yeast ( S. cerevisiae ) and fission yeast ( S. pombe ). (wikipedia.org)
  • For example, the defective gene for progressive retinal atrophy (PRA) was found on chromosome 9 in dogs before discovering it on chromosome 17 in humans. (massapequapost.com)
  • They wanted a dog with the most "homzygosity"- the least variation between maternal/paternal gene pairs. (massapequapost.com)
  • Transmembrane protein 8B is a protein that in humans is encoded by the TMEM8B gene. (wikipedia.org)
  • In order to clarify whether TEC and DBA are allelic, we investigated the segregation of markers spanning the RPS19 gene region on chromosome 19q13.2 and performed sequence analysis of all exons in the RPS19 gene in seven TEC sibling pairs. (diva-portal.org)
  • There is a race going on to lower the cost human gene sequencing to a level of a comprehensive battery of blood tests. (slideshare.net)
  • Gene sequencing allows scientists to map a chromosome. (slideshare.net)
  • The genes coding for two of these cone photoreceptors (L- and M-cones) are carried on the X-chromosome and any malformation of either gene in a female is necessarily expressed in the phenotype of a male offspring who inherits that gene. (pubmedcentralcanada.ca)
  • Investigators have determined that cases of sporadic and autosomal dominant cyclic neutropenia may be caused by disruption or changes (mutations) of the ELANE gene located on the short arm (p) of chromosome 19 (19p13.3). (rarediseases.org)
  • This was the case with recent research at the UK's Francis Crick Institute where the genomes of human embryos were-for the first time-edited to study the function of a gene during the first few days of development.4 The only alternative to using surplus embryos from fertility treatment is to create embryos specifically for research. (deepdyve.com)
  • This paper connects Alu repeats, the most abundant repetitive elements in the human genome and microRNAs, small RNAs that alter gene expression at the post-transcriptional level. (nih.gov)
  • A primate-specific gene cluster on chromosome 19 encodes the majority of miRNAs that target the most conserved sense Alu site. (nih.gov)
  • Gene duplication events in this locus are supported by comparing repeat length variations of the LINE elements within the cluster with those in the rest of the chromosome. (nih.gov)
  • Gene maps showed that blocks of conserved syntenies between zebrafish and humans were large, but gene orders were frequently inverted and transposed. (zfin.org)
  • Consideration of duplicate chromosome segments shows that at least 20% of duplicated gene pairs may be retained from this event. (zfin.org)
  • The gene associated with glutaricaciduria I has been mapped to chromosome 19 (19p13.2). (rarediseases.org)
  • In some cases, these interactions allow an enhancer to act in trans , modulating the expression of a gene encoded on a separate chromosome held in close proximity. (genetics.org)
  • IN an oversimplified view of the genome, each chromosome could be considered a linear arrangement of genic units, with each gene controlled solely by nearby cis -acting regulatory sequences. (genetics.org)
  • Thus, a central question remains: Is it common for sequences that regulate gene expression to communicate between chromosomes when they are physically juxtaposed? (genetics.org)
  • They then measured for each of the gene pairs synonymous nucleotide divergence-silent changes in the nucleotide sequence. (mit.edu)
  • Because they are therefore selectively neutral, synonymous substitutions serve as a molecular clock, providing a measure of the evolutionary time that has elapsed since the gene pairs began to differentiate. (mit.edu)
  • The MLL gene, the closest human homologue to the Drosophila trithorax gene, undergoes chromosomal translocation with a large number of different partner genes in both acute lymphoid and acute myeloid leukemias. (hku.hk)
  • The gene is located on chromosome 19p13, where two other MLL partner genes, ENL and ELL/MEN have also been identified. (hku.hk)
  • To screen the paired box gene 6 ( PAX6 ) gene in irido-fundal coloboma. (molvis.org)
  • Finally, using FISH, we verify the presence of a gene fusion between TMPRSS2 and ERG suggested by chromosome 21 deletions detected by array CGH. (aacrjournals.org)
  • There are estimated to be over 4000 human diseases caused by single gene defects. (prezi.com)
  • Types Multiple gene disorder Depending on which type of chromosome is afected, they can be classified in Autosomal Sexual When the disease is related onto a no sexual chromosome Dominant Recesive Only one mutated copy of the gene will be necessary for a person to be affected by an autosomal dominant disorder. (prezi.com)
  • More than one gene mutation can cause Alzheimer s Disease , and genes on multiple chromosomes are involved. (ec-online.net)
  • It is associated with gene mutations on chromosomes 1, 14, and 21. (ec-online.net)
  • Sporadic Alzheimer s Disease usually occurs later in life, is far more common than FAD, and appears to be related to the apoE gene found on chromosome 19. (ec-online.net)
  • Because the chromosomes are visibly disrupted, researchers can easily map the position of the mutated gene using only a simple light microscope. (llnl.gov)
  • We knew immediately that the gene responsible for the trait would be found on one of those two chromosomes," Stubbs explains. (llnl.gov)
  • They label a gene from a normal chromosome 2 with the fluorescent dye and add it to a slide containing the mutant mouse chromosomes. (llnl.gov)
  • The labeled gene probe recognizes DNA sequences spread over the slide that are identical to its own and binds to the chromosome at that site. (llnl.gov)
  • The second exon is transcriptionally expressed in most species, yet human mRNA reflects only exon 1 and exon 3, suggesting to earlier workers that the gene had a different structure. (mad-cow.org)
  • The relationships between gene expression and nuclear structure, chromosome territories in particular, are currently being elucidated experimentally. (biomedcentral.com)
  • We sought to discover whether patterns in gene expression databases might exist that would mirror prevailing or recurring nuclear structure patterns, chromosome territory interactions in particular. (biomedcentral.com)
  • We used human gene expression datasets, both from a tissue expression atlas and from a large set including diverse types of perturbations. (biomedcentral.com)
  • A recent analysis [ 13 ] suggests that the "human gene co-expression landscape" is functionally relevant and includes house-keeping genes, tissue-specific genes, and specific pathways. (biomedcentral.com)
  • The three-dimensional organization of chromosomes in the human interphase nucleus is relevant for gene regulation, yet it is far from being fully understood. (biomedcentral.com)
  • By studying a series of XY gene pairs in much the same way that geologists study fossils, Page was able to craft a timeline of the evolution of X and Y chromosomes. (wired.com)
  • We know of 19 genes that they both still share, and we think they are remnants of the ancestral gene. (wired.com)
  • By studying the few shared genes on the Y chromosome that remain today, and by comparing the genes that are common to the X and Y, Page and his team were able to measure the amount of time that has passed since the gene pairs were identical. (wired.com)
  • We found all of the XY gene pairs and looked at them as a group and found that the pattern and flow of the sex chromosome evolution became obvious when we had them lined up. (wired.com)
  • Chromosomal assignment studies with somatic cell hybrid analysis and fluorescent in situ hybridization have located the ATBo gene to human chromosome 19q13.3. (tcdb.org)
  • microchromosomes are very tiny gene -rich chromosomes which are a typical genetic component in birds , and some groups of non-mammalian animals? (thefullwiki.org)
  • An important mechanism resulting in gene inactivation is through chromosome translocations, which disrupt the genes at the breakpoints. (elsevier.com)
  • This will result in the offspring's cells again having paired sets of chromosomes, with two copies of each gene. (lifelearn-cliented.com)
  • Scientists used to think that a single gene pair following dominant and recessive inheritance patterns was responsible for this trait. (rebuildyourvision.com)
  • Now they know there are at least three gene pairs controlling human eye color. (rebuildyourvision.com)
  • Geneticists have focused on two of the three gene pairs to help clarify the inheritance of eye color: the gey gene and the bey 2 gene. (rebuildyourvision.com)
  • The bey 2 gene, on chromosome 15, has a brown and a blue allele. (rebuildyourvision.com)
  • An allele is a form of the gene occupying a specific position on the chromosome. (rebuildyourvision.com)
  • Located on chromosome 19, the gey gene has a blue and a green allele. (rebuildyourvision.com)
  • The third gene, bey 1, located on chromosome 15, is a central brown eye color gene. (rebuildyourvision.com)
  • The gene responsible for this hereditary deficiency causes a mutation in the Ryantodine receptor, and is situated on Chromosome 19. (tripod.com)
  • This means that both sexes are affected and only one pair of the gene need be present for the condition to be expressed in an individual, therefore each child of a MH patient has a 50% chance of being affected. (tripod.com)
  • In conclusion, our results suggested that a susceptibility gene for PCOS was located on chromosome 19p13.3 in the insulin receptor gene region. (cdc.gov)
  • Mutations … are changes in the genetic material can be good or bad can be on a single gene or the whole chromosome. (amazonaws.com)
  • NIEHS research uses state-of-the-art science and technology to investigate the interplay between environmental exposures, human biology, genetics, and common diseases to help prevent disease and improve human health. (nih.gov)
  • Human Molecular Genetics. (wikipedia.org)
  • Genomics and Human Genetics 15: 47-70. (isogg.org)
  • Human Genetics , published online 28 April 2017. (isogg.org)
  • American Journal of Human Genetics , published online 25 April 2016. (isogg.org)
  • So we don't have to compare them to humans, as their genetics are a lot different here. (thefollisreport.com)
  • We have localized the receptor by radiation hybrid mapping to a region of about 500-kb pairs on the long arm of human chromosome 19 at q13.3. (tcdb.org)
  • For example, the number of homologous sets of chromosomes in humans is 23 if one considers a "set" to be one pair of homologous chromosomes, or it could be 2 if one considers a "set" to be the collective number of non-homologous chromosomes. (wikipedia.org)
  • To determine the moment in development when transmission ratio distortion (TRD) for larger normal-size DMPK alleles is generated, the transmission from heterozygous parents with one repeat within the (CTG)(5-18) range (Group I repeat) and the other within the (CTG)(19-37) range (Group II repeat) to human preimplantation embryos was analysed. (biomedsearch.com)
  • Blue-eyed folks have inherited a pair of blue alleles from both their mother and their father. (rebuildyourvision.com)
  • Here, we review our current knowledge of mammalian sex determination drawing on insights from human DSD patients and mouse models. (springer.com)
  • Find this article online O'Keefe RT, Henderson SC, Spector DL (1992) Dynamic organization of DNA replication in mammalian cell nuclei: Spatially and temporally defined replication of chromosome-specific alpha-satellite DNA sequences. (thefullwiki.org)
  • Regions on chromosomes 7 and 19 were recently reported to contain susceptibility loci that regulate tumor aggressiveness of prostate cancer. (nih.gov)
  • No microsatellite expansion was observed in these glial tumors for any of the chromosome 19 loci examined. (elsevier.com)
  • In 12/14 (86%) instances of chromosome 19 deletion in oligodendrogliomas and MOA, the 19q arm showed LOH, whereas the 19p arm showed no loss for all informative loci. (elsevier.com)
  • Conversely, in 17/23 (74%) instances of chromosome 19 deletion in astrocytomas, the 19p arm showed LOH, whereas the 19q arm showed no loss for one or more loci. (elsevier.com)
  • Clonal reproduction assured by sister chromosome pairing in dojo loach, a teleost fish, Chromosome Research (2018). (phys.org)
  • How to talk about genome editing Starr, Sandy 2018-04-25 00:00:00 Abstract Background Human genome editing is an area of growing prominence, with many potential therapeutic applications. (deepdyve.com)
  • One might read this to mean "homologous sets" (ie: sets of homologous chromosomes), or homologous "sets of (non-homologous) chromosomes. (wikipedia.org)
  • Ploidy therefore refers to the number of sets of non-homologous chromosomes, not homologous chromosomes. (wikipedia.org)
  • Perhaps a more accurate definition would be something like, "Number of homologous sets of non-homologous chromosomes. (wikipedia.org)
  • Using phiC31-based recombinase-mediated cassette exchange (RMCE), we placed transgenes carrying combinations of the simple enhancer GMR, a minimal promoter, and different fluorescent reporters at equivalent positions on homologous chromosomes so that they would pair via the endogenous somatic pairing machinery of Drosophila . (genetics.org)
  • Uniparental disomy is the inheritance of two homologous chromosomes from one parent. (thefullwiki.org)
  • Ritland, SR, Ganju, V & Jenkins, RB 1995, ' Region-specific loss of heterozygosity on chromosome 19 is related to the morphologic type of human glioma ', Genes Chromosomes and Cancer , vol. 12, no. 4, pp. 277-282. (elsevier.com)
  • However, as a result of extensive cytogenetic and loss of heterozygosity (LOH) analysis it is now clear that partial or complete loss of chromosomes 10q and 19q occurs in the vast majority of malignant gliomas. (elsevier.com)
  • Chromosome 19 spans about 59 million base pairs (the building blocks of DNA) and represents almost 2 percent of the total DNA in cells. (medlineplus.gov)
  • These chromosome abnormalities are somatic, which means they are acquired during a person's lifetime and are present only in the cells that give rise to cancer. (medlineplus.gov)
  • 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. (news-medical.net)
  • Their 'somatic' non-reproductive cells contain a full set of 50 chromosomes-25 from each parent-while their reproductive egg and sperm cells contain 25 chromosomes. (phys.org)
  • How the reproductive process leads to 50 chromosomes in egg cells has been unclear. (phys.org)
  • To better understand this mechanism, a research team including Masamichi Kuroda and Takafumi Fujimoto of Hokkaido University's Graduate School of Fisheries Sciences developed DNA probes to track the chromosomes in dojo loach's somatic and reproductive cells. (phys.org)
  • Fluorescent signals indicate that the half of the chromosomes in the somatic cells of female clones are derived from type B (green signals). (phys.org)
  • According to the results published in Chromosome Research, the fluorescent signals indicated that somatic cells of the female clones have 25 chromosomes derived from type B, providing evidence that their ancestral origin arose when type A and B mated. (phys.org)
  • In the sexually reproducing dojo loach, reproductive cells divided through the normal process of meiosis, in which a single cell containing a full set of 50 chromosomes produces one egg containing 25 chromosomes. (phys.org)
  • Here, we image for the first time, in living cells and at the level of a single microRNA cluster, the intranuclear distribution of untagged, endogenously-expressed pri-miRNAs generated at the human imprinted chromosome 19 microRNA cluster (C19MC), from the environment of transcription sites to single molecules of fully released DGCR8-bound pri-miRNAs dispersed throughout the nucleoplasm. (cnrs.fr)
  • The modal chromosome number was 64, occurring in 30% of cells. (sigmaaldrich.com)
  • er(12)t(8;12) (q22;p13) and four other marker chromosomes were common to most cells. (sigmaaldrich.com)
  • Noticeably in addition to three copies of X chromosomes, there were paired Xq+ and a single Xp+ in most cells. (sigmaaldrich.com)
  • Chromosomes are found in the nucleus of all body cells. (rarediseases.org)
  • Within cells, DNA is organized into structures called chromosomes . (newworldencyclopedia.org)
  • These chromosomes are duplicated before cells divide, in a process called DNA replication. (newworldencyclopedia.org)
  • 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. (atcc.org)
  • Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. (rarediseases.org)
  • Human body cells normally have 46 chromosomes. (rarediseases.org)
  • To duplicate all this information stored in the chromosomes and to make it usefull cells use a process we call central dogma. (prezi.com)
  • Chromosomes from those cells are then spread on a microscope slide. (llnl.gov)
  • To date, most studies have been conducted on viral strains that are grown in cultures of human fibroblast (AD169 and Towne strain) and epithelial cells (Toledo strain). (kenyon.edu)
  • Chromosome 16 spans about 90 million base pairs (the building material of DNA) and represents just under 3% of the total DNA in cells . (wikipedia.org)
  • We have isolated a cDNA from a human placental choriocarcinoma cell cDNA library which, when expressed in HeLa cells, induces a Na+-dependent amino acid transport system with preference for zwitterionic amino acids. (tcdb.org)
  • in 1902, the Boveri-Sutton Chromosome Theory unified the genetic laws of Mendelian inheritance with the physical structures of chromosomes observed in cells? (thefullwiki.org)
  • Pallister-Killian syndrome is a rare congenital genetic disorder that cannot be detected through prenatal blood tests because it occurs only in the chromosomes of skin cells ? (thefullwiki.org)
  • A chromosome is an organized structure of DNA and protein that is found in cells . (thefullwiki.org)
  • Recently, the principal investigator has identified three glioblastoma cells, which carry translocations involving chromosome regions 10q24 and 19q13. (elsevier.com)
  • The exact molecular position of the translocation breakpoints were then identified using somatic cell hybrids created from these cells which contain the rearranged chromosomes. (elsevier.com)
  • We report here the correction of α-thalassemia major hydrops fetalis in transgene-free iPS cells using zinc finger-mediated insertion of a globin transgene in the AAVS1 site on human chromosome 19. (elsevier.com)
  • Chang, CJ & Bouhassira, EE 2012, ' Zinc-finger nuclease-mediated correction of α-thalassemia in iPS cells ', Blood , vol. 120, no. 19, pp. 3906-3914. (elsevier.com)
  • During the formation of these reproductive cells, each cell gets only one copy of each chromosome. (lifelearn-cliented.com)
  • Nineteen marker chromosomes were identified, with most of them formed from structural alterations of the missing copies of the normal chromosomes. (atcc.org)
  • The Ad insert was shown to consist of a colinear segment from nucleotides 1 to 4344 integrated into chromosome 19 (19q13.2). (sigmaaldrich.com)
  • The Ad5 insert was cloned and sequenced, and it was determined that a colinear seqment from nts 1 to 4344 is integrated into chromosome 19 (19q13.2). (atcc.org)
  • A condition in which a diploid organism has one more chromosome than usual. (amazonaws.com)
  • Chromosomes, the genetic structures of a cell, are constructed of deoxyribose nucleic acid (DNA) and the proteins and other elements that protect, regulate, and package the DNA. (wa.gov)
  • All DNA is stored in each cell in structures we call chromosomes. (prezi.com)
  • Using comparative genomics a large number of sequences that have signals concordant with conserved RNA secondary structures have been discovered in the human genome. (biomedcentral.com)
  • Instead the functions of these genes depend on the RNA itself, which can be unstructured or adopt functional secondary structures through internal base pairing or pairing to other RNA molecules. (biomedcentral.com)
  • Genome structures of the complete Campylobacter jejuni strain 15AR0984 chromosome and plasmid (15AR0984-m) isolated from humans and poultry, New Zealand, 2014-2016, compared with the closest plasmid (pcjDM) sequence found in GenBank. (cdc.gov)
  • Our genes are wound up into structures called chromosomes. (alzheimersresearchuk.org)
  • Genomic micro-array and whole exome sequencing (WES) tests may identify, or confirm the presence of chromosome abnormalities. (wa.gov)
  • 45, X, and other sex chromosome abnormalities account for most abnormalities. (wa.gov)
  • Definition A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. (prezi.com)
  • Human Y chromosome mutation rates by Larry Moran, Sandwalk blog, 1 September 2009. (isogg.org)
  • 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 . (isogg.org)
  • The Y-chromosome point mutation rate in humans (letter). (isogg.org)
  • In addition, physical interactions between chromosomes have been postulated to explain epigenetic phenomena such as repeat-induced point mutation in Neurospora (reviewed by Galagan and Selker 2004 ) and paramutation in maize ( Chandler and Stam 2004 ). (genetics.org)
  • In the laboratory, the researchers look for one particular kind of mutation called a translocation, which involves obvious changes in chromosome structure. (llnl.gov)
  • Allelic mutation on chromosome 19 has previously been reported as a frequent genetic event in human glial tumors. (elsevier.com)
  • Among the changes in chromosome 19 that have been reported are microdeletions, which remove a relatively small number of genes. (medlineplus.gov)
  • Changes in chromosome 19 have been identified in several types of cancer. (medlineplus.gov)
  • Bacterial artificial chromosomes (BACs) have been used to create frozen clones of HCMV DNA, allowing for some standardization of the highly variable HCMV virus [12]. (kenyon.edu)
  • FUT2: The Se locus is located on chromosome 19 at 19q13.3. (wikipedia.org)
  • Moreover, their data suggested that sister chromosomes doubled from the same chromosome make pairs so that recombination between the chromosomes does not affect their clonality. (phys.org)
  • These patterns were confirmed by scanning T-banded endoreduplicated CHO chromosomes in which the same interchromatid distribution of HD chromatin appeared in both sister chromosomes (Drets and Mendizábal, 1998). (scielo.br)
  • Finally, the single-cell resolution afforded by our approach allowed us to show that promoters in cis and in trans to GMR can both be activated in the same nucleus, implying that a single enhancer can share its activity between multiple promoter targets carried on separate chromosomes. (genetics.org)
  • Within the nucleus of every human cell, two long, thread-like DNA strands encode the instructions for making all proteins needed for life. (ec-online.net)
  • Chromatin The network of chromosomes, histones, and other proteins found in the eukaryotic nucleus during interphase. (thefullwiki.org)
  • The Fugu fish sequence, in combination with the draft mouse genome, to be available in early 2001, will greatly add to the comparative sequence studies that are now required to isolate coding and non-coding conserved elements within the human genome," Watson said in a statement. (genomeweb.com)
  • Base-pair complementarity could be demonstrated between the seed sequence of a subset of human microRNAs and Alu repeats that are integrated parallel (sense) in mRNAs. (nih.gov)
  • The scientific goal was to map the genes and sequence human DNA. (encyclopedia.com)
  • Once they zero in on the chromosome section involved, they search the DNA sequence of that region to identify the genes that have been disrupted by the chromosome break. (llnl.gov)
  • By the time we go to the DNA sequence and begin searching out individual genes," Stubbs says, "we know exactly which spot on the chromosome we must deal with. (llnl.gov)
  • However, a region clearly related to exon 2 was identified in humans from its strong sequence homology to expressed exon 2 in other species. (mad-cow.org)
  • Human exon 2 shows no sign of rapid change [loss of selective pressure]: the sequence changes orders of magnitude more slowly than [unselected] pseudogenes. (mad-cow.org)
  • One study found that the published sequence for HCMV in the AD 169 strain lacks 929 base pairs affecting two genes (UL42 and UL43) that are nonessential for growth in culture [11]. (kenyon.edu)
  • Schmutz and his group finished and assembled the human sequence of chromosomes 5, 16 and 19 for the public Human Genome Project. (hudsonalpha.org)
  • He also led the quality assessment of the human genome sequence that evaluated the accuracy and completeness of the final human genome sequence. (hudsonalpha.org)
  • Translocations of genetic material between chromosome 19 and another chromosome can also lead to extra or missing material from chromosome 19. (medlineplus.gov)
  • Using live imaging and tomographic reconstructions of spermatocyte meiotic spindles inCaenorhabditis elegans, we find the lagging X chromosome, a distinctive feature of anaphase I inC. elegans males, is due to lack of chromosome pairing. (medworm.com)
  • Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. (rarediseases.org)
  • Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. (rarediseases.org)
  • Nevertheless, evolution has charged these two genetic loners with the critical task of sex determination: embryos with two X chromosomes develop into females, while embryos with an X and a Y chromosome develop into males. (mit.edu)
  • Because males inherit a Y chromosome from their fathers, every son of an affected father will be affected. (prezi.com)
  • Most males have one Y and one X chromosome. (healthtap.com)
  • Because males only receive one copy of the X chromosome, they are more likely to demonstrate sex-linked characteristics than females. (lifelearn-cliented.com)
  • While females receive two copies of the X chromosome (XX), males only receive one copy of the X chromosome. (lifelearn-cliented.com)
  • The knowledge of genetic variants shaping human placental transcriptome is limited and they are not cataloged in the Genotype-Tissue Expression project. (frontiersin.org)
  • For example, "chromosome 19p13.3" refers to band 13.3 on the short arm of chromosome 19. (rarediseases.org)
  • Multipoint linkage analysis places TBXA2R between the markers D19S120 and PMS207 on the telomeric end of chromosome 19p13.3. (elsevier.com)
  • Despite recent advances in uncovering such phenomena, our understanding of how a regulatory element acts on another chromosome remains incomplete. (genetics.org)
  • These include 19p13.13 deletions (described above) and small deletions in other regions of the chromosome. (medlineplus.gov)
  • Six of these markers involve regions of chromosome N7, while three are recognized as derivatives of chromosome N6. (atcc.org)
  • 2004) confer high resistance to heat denaturation to the terminal regions of metaphase chromosomes which results in selective staining after T-banding (Dutrillaux, 1973). (scielo.br)
  • The sequencing of the human genome marked the starting point of a very difficult task: to make sense of the enormous amount of information stored in the genome by annotating the functionally important regions. (biomedcentral.com)
  • 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. (biomedcentral.com)
  • We show that some pairs of chromosomes and pairs of 10 Mbp long chromosome regions are significantly enriched in the expression clusters. (biomedcentral.com)
  • High-scoring segment pairs between the 15AR0984 genome and the plasmid pcjDM ware connected with gray bars to illustrate the similar shared regions except for the backbone regions, which were highly conserved across the pTet-like plasmid genomes. (cdc.gov)
  • One of these cell lines carries a reciprocal 1(10;19)(q24;q13) translocation and all of these breakpoints lie exactly in the critical regions on chromosomes 10 and 19 indicated by LOH to be important. (elsevier.com)
  • They line chromosome profiles up- side by side, cut and paste, focus on tinier sections, and find similarities of position between inherited conditions in comparable species. (massapequapost.com)
  • Human malaria is a complex infectious disease caused by protozoan parasites (Plasmodium species). (thefreelibrary.com)
  • Human species has in total 46 chromosomes, which are grouped into 23 pairs, each pair consisting of one chromosome from our mother and one from our father. (prezi.com)
  • Alternative splicing, resulting in exon 123 or exon 13 splice products, has been demonstrated for hamster, mouse, rat, cow, and sheep -- in all species studied except human, which so far only shows exon 13 splicing. (mad-cow.org)
  • As a species-specific disease, human cytomegalovirus can be found in all organs and bodily fluids, and therefore can lead to infection in developing infants (Figure 1). (kenyon.edu)
  • All they had was natural selection, so each surviving species has generated genetic adaptations allowing them to fight off some of the diseases humans are starting to see. (courant.com)
  • To better understand the evolutionary relationships within Phyllostomidae, we developed chromosome paints from the bat species Macrotus californicus . (biomedcentral.com)
  • 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 . (biomedcentral.com)
  • Karyotype A picture of the chromosomes of an individual or a species, including number, form, and size of the chromosomes. (amazonaws.com)
  • 19p13.13 deletion syndrome results from the deletion of a small piece of the short (p) arm of chromosome 19 in each cell. (medlineplus.gov)
  • This deletion affects one of the two copies of chromosome 19 in each cell. (medlineplus.gov)
  • Partial deletion of chromosome 19 occurred more frequently (31/37 cases) than did loss of one whole copy of the chromosome, and a morphology- specific pattern of LOH was observed. (elsevier.com)
  • After the prespecified conditioning in the discovery cohort, the authors identified an association between a novel single nucleotide polymorphism (SNP) in the CYP2C cluster on chromosome 10 (rs12777823) and warfarin dose requirement that reached genome-wide significance (p = 1.51 × 10 -8 ). (acc.org)
  • TCO was mapped to chromosome 19p13.2 by linkage analysis with a whole-genome panel of microsatellite markers. (nih.gov)
  • For example, "chromosome 19p13.2" refers to band 13 on the short arm of chromosome 19. (rarediseases.org)
  • DNA dating: How molecular clocks are refining human evolution's timeline by Bridget Alex and Priya Moorjani, The Conversation , 7 April 2017. (isogg.org)
  • Chromosome 19 likely contains about 1,500 genes that provide instructions for making proteins. (medlineplus.gov)
  • These genes produce proteins which in turn carry out a large variety of often complex functions in the human body. (slideshare.net)
  • The human genome contains roughly 23,000 pairs of proteins that code or produce proteins. (slideshare.net)
  • Within the chromosomes, chromatin proteins such as histones compact and organize DNA, which helps control its interactions with other proteins and thereby control which genes are transcribed. (newworldencyclopedia.org)
  • Human DNA, as it turns out, is largely junk - that is, 98.6 percent does not code for proteins. (encyclopedia.com)
  • It is well known that the usual banding procedures (C-, G-, R- and T-) reveal the underlying structure and composition of DNA and associated proteins in mitotic chromosomes (Therman and Susman, 1993). (scielo.br)
  • Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions. (thefullwiki.org)
  • Chromosome 19 spans more than 58.6 million base pairs , the building material of DNA . (wikidoc.org)
  • sequencing would determine the order of the four base pairs - the A (adenine), T (thymine), G (guanine), and C (cytosine) nucleotides - that compose the DNA molecule. (encyclopedia.com)
  • These four chemical bases-commonly abbreviated as A, G, C, and T-bind together to create base pairs of DNA molecules. (llnl.gov)
  • In 2000, Grimwood was a senior scientist at the Stanford Human Genome Center where she and her group were responsible for finishing and performing quality analysis on the 320 million base pairs of human chromosomes 5, 16 and 19, comprising more than 10 percent of the human genome. (hudsonalpha.org)
  • The worldwide effort, originally named the Human Genome Initiative but later known as the Human Genome Project or HGP, began in 1987 and was celebrated as complete in 2001. (encyclopedia.com)
  • They will use the shotgun strategy for sequencing the genome, which the JGI also used to complete the draft sequences of human chromosomes 5, 16, and 19. (genomeweb.com)
  • The Fugu genome contains essentially the same genes and regulatory sequences as the human genome. (genomeweb.com)
  • A furor developed when researchers working with government money applied for patents on data that merely reports knowledge of what already exists in nature - knowledge of existing DNA sequences - and this led to the 1992 resignation of James Watson (b. 1928) from the directorship of NIH's National Center for Human Genome Research (NCHGR). (encyclopedia.com)
  • Our results demonstrate that many human noncoding, structured and conserved RNA genes remain to be discovered and that tissue specific tiling array data can be used in combination with computational predictions of sequences encoding structural RNAs to improve the search for such genes. (biomedcentral.com)
  • 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. (frontiersin.org)
  • 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. (frontiersin.org)
  • Previous research using microdensitometric scanning and computer graphic image analysis showed that T-banded segments of human metaphase chromosomes usually exhibit an asymmetrical distribution of high density (HD) chromatin between sister chromatids. (scielo.br)
  • Here, we employed the same methods to analyze HD chromatin distribution at opposite ends of T-banded human lymphocyte chromosomes. (scielo.br)
  • This study revealed that in most chromosomes with an asymmetrical distribution of HD chromatin at both ends, the highest densities of each arm were located in opposite chromatids. (scielo.br)
  • The frequency of this configuration was 0.792 per chromosome, indicating that the highest chromatin densities of the terminal segments of T-banded human chromosomes were non-randomly distributed at opposite chromosome arms. (scielo.br)
  • Microdensitometric scanning and computer graphic image analysis of high-resolution microphotographs of T-banded segments of human and Chinese Hamster Ovary (CHO) chromosomes allowed the detection of a differential distribution of HD sub-telomeric chromatin between sister chromatids. (scielo.br)
  • Nevertheless, quantitative computerized microdensitometrical analyses on the distribution of HD chromatin at opposite ends of T-banded chromosomes have not yet been reported. (scielo.br)
  • Therefore, we performed microdensitometric scanning and computer graphic image analysis to study HD chromatin distribution at T-banded human chromosomes that showed asymmetry at opposite ends. (scielo.br)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 19. (medlineplus.gov)
  • In the female clones, the team found that the chromosomal material doubles twice so that when it divides, each results in an egg cell containing a full set of 50 chromosomes. (phys.org)
  • Most likely this suppression was the result of a series of chromosomal inversions on the Y chromosome, which would also explain why the genes appear to be in order on the X but scrambled on the Y," he explains. (mit.edu)
  • Comparative painting with whole chromosome-specific paints of M. californicus demonstrates an extensive chromosomal reorganization within the two lineages of nectarivorous phyllostomids, with a large number of chromosomes shared between M. californicus and G. soricina . (biomedcentral.com)
  • Of these, chromosome painting is the method of choice for reconstructing ancestral chromosomal associations in comparative interspecific research. (biomedcentral.com)
  • [27] In humans, the major POLD1 transcript (NM_002691.3) contains 27 exons and translates into the 1107 amino acids of the p125 or A subunit. (wikipedia.org)
  • All 13 variants are protein encoding, and all contain 19 exons. (wikipedia.org)
  • Instead, movement of autosomes is largely driven by distance change between chromosomes, microtubules, and centrosomes upon tension release during anaphase. (medworm.com)
  • Now research by Dr. Page indicates that sex chromosomes descended from an ordinary pair of autosomes that over hundreds of millions of years evolved into the modern X and Y chromosomes. (mit.edu)
  • Over the years, a pair of autosomes differentiated into two distinct chromosomes, the X and the Y. Today the X is still home to thousands of genes, but the Y has only a measly few dozen. (mit.edu)
  • Long ago, in addition to XX and XY, organisms that were the ancestors of humans carried other non-sex chromosomes in matched pairs called autosomes, Page explained. (wired.com)
  • 22 pairs of autosomes. (amazonaws.com)
  • The region surrounding APOE on chromosome 19 has also shown consistent association with LOAD. (elsevier.com)
  • A boy is born with an extra copy of the x chromosome. (healthtap.com)
  • Two copies of chromosome 19, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
  • People normally have two copies of this chromosome. (wikidoc.org)
  • Because females inherit an X chromosome from their fathers, female offspring of affected fathers are never affected. (prezi.com)
  • These data indicate that two or more tumor suppressor genes may reside on chromosome 19, one on 19p important in the development of astrocytomas, and one on 19q important in oligodendrogliomas and MOA. (elsevier.com)
  • 5000 homozygous exonic variants on chromosome 19, suggestive of UPD19. (bmj.com)
  • It encodes for a transmembrane protein that is 338 amino acids long, and is located on human chromosome 9. (wikipedia.org)
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
  • Researchers at Yale University have identified genetic variants among people of white British ancestry that may increase the risk of dying from coronavirus disease 2019 (COVID-19) - the illness caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). (news-medical.net)
  • 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. (news-medical.net)
  • Hokkaido University researchers have developed a technique that allows them to track chromosomes during egg production in dojo loach Misgurnus anguillicaudatus. (phys.org)
  • Researchers believe that the sequenced Fugu genome will offer great insights into understanding the human genome. (genomeweb.com)
  • Collins drew twenty laboratories worldwide with hundreds of researchers into the International Human Genome Sequencing Consortium, which he directed from his Washington office. (encyclopedia.com)
  • The researchers then use a procedure called fluorescent in situ hybridization (FISH), a technique for painting chromosomes with a fluorescent dye, to pinpoint the gene's location. (llnl.gov)
  • The researchers repeat the process for other genes on chromosome 2 until they have narrowed down the "breakpoints," that is, the end pieces of the two broken and rejoined chromosome segments. (llnl.gov)
  • Genetic researchers found some surprising similarities between human and cat chromosome organization. (courant.com)
  • This discovery has led researchers to explore how certain diseases affect humans and cats. (courant.com)
  • Researchers in the US have found that having a second X chromosome may increase resilience to Alzheimer's disease. (alzheimersresearchuk.org)
  • Background We report here clinical, cytogenetic and molecular data for a pair of monochorionic diamniotic twins with paternal isodisomy for chromosome 19. (bmj.com)
  • Central dogma of molecular Duplication Transcription Translation Human Karyotype Genetic Most genetic disorders are quite rare and affect one person in every several thousands or millions. (prezi.com)
  • Therefore, if human exon 2 is a molecular fossil without function , this must be a very recent development. (mad-cow.org)
  • Korenberg J. R. & Rykowski, M. C. Human genome organization: Alu, lines, and the molecular structure of metaphase chromosome bands. (thefullwiki.org)
  • Human cytomegalovirus (HCMV) is a member of the herpesvirus family that generally remains unnoticed in the human body, but can be severely pathogenic in immunocompromised patients [1]. (kenyon.edu)
  • The human cytomegalovirus structure consists of an outer lipid bilayer envelope, composed of various viral glycoproteins, followed by the tegument, a proteinaceous matrix, which holds double stranded linear DNA core in an icosahedral nucleocapsid. (kenyon.edu)
  • Human karyotype Genetic diseases composed of? (prezi.com)
  • Klinefelter's syndrome is a genetic disorder in which there is at least one extra x chromosome to a normal human male karyotype, for a total of 47 chromosomes. (healthtap.com)
  • Duplicated chromosome segments suggest that a genome duplication occurred in ray-fin phylogeny, and comparative studies suggest that this event happened deep in the ancestry of teleost fish. (zfin.org)
  • In addition, imprinting defects were also identified in genes located on other chromosomes, including GPR1-AS , JAKMP1 and NHP2L1 . (bmj.com)
  • X-linked dominant disorders are caused by mutations in genes on the X chromosome. (prezi.com)
  • Exceptions to this finding are extremely rare cases in which boys with Klinefelter syndrome (47,XXY) also inherit an X-linked dominant condition and exhibit symptoms more similar to those of a female in terms of disease severity RECEssIVE X-linked recessive conditions are also caused by mutations in genes on the X chromosome. (prezi.com)
  • Y linked Y-linked disorders are caused by mutations on the Y chromosome. (prezi.com)
  • For more than a decade, scientists have been on a quest to understand how sex is determined during fetal development -- that is, why an embryo that carries two X chromosomes is female and one that carries an X and a Y is a male. (wired.com)
  • Human genes are present on long strands of DNA (complex molecules) called chromosomes. (slideshare.net)
  • Transmission ratio distortion in the myotonic dystrophy locus in human preimplantation embryos. (biomedsearch.com)
  • In Science this week: genomic analysis points to role of human behavior in SARS-CoV-2 spread, and more. (genomeweb.com)
  • It showed that many human genes that are highly expressed were clustered in genomic domains ("ridges"), 5 - 15 Mbp wide. (biomedcentral.com)
  • [23] POLD1 is also known as CDC2, MDPL, POLD, and CRCS10), is ~34 kb long and its cytogenetic location is chromosome 19 [24] q13.33. (wikipedia.org)
  • Chromosome segregation during male meiosis is tailored to rapidly generate multitudes of sperm. (medworm.com)
  • Little is known about mechanisms that efficiently partition chromosomes to produce sperm. (medworm.com)
  • Overall, we define novel features that segregate both lagging and paired chromosomes for optimal sperm production. (medworm.com)
  • When an egg is fertilized by the sperm, the new offspring will receive one chromosome from each parent. (lifelearn-cliented.com)
  • 00001). In addition, we report suggestive evidence for linkage on chromosome 4 (D4S403, P=.00012). (nih.gov)
  • Linkage analysis of 25 extended families, in each of which at least one affected individual had panic disorder (PD), resulted in a LOD score of 4.18 at D9S271, on chromosome 9q31. (arctichealth.org)
  • The vision of NIEHS is to use environmental health sciences to understand human disease and improve human health. (nih.gov)
  • These data are consistent with the conclusion that prion disease is less likely to develop in humans after exposure to naturally occurring prions of sheep than after exposure to epizootic BSE prions of ruminants. (cdc.gov)
  • The BSE prion is an epizootic agent and causes variant Creutzfeldt-Jakob disease (vCJD) in humans after dietary exposure ( 1 - 4 ). (cdc.gov)
  • This increase has rekindled speculation that atypical scrapie in small ruminants might be a source of human prion disease ( 11 ). (cdc.gov)
  • Although atypical scrapie has been discovered retrospectively in 2 UK sheep culled in 1987 and 1989 ( 14 , 15 ), the level and duration of human exposure to atypical scrapie prions are unknown, and this lack of knowledge confounds a cause-and-effect investigation of epidemiologic links between this animal disease and some form of CJD ( 11 ). (cdc.gov)
  • One approach involves the experimental transmission of disease by inoculating homogenized brain tissue from affected animals into transgenic mice that are overexpressing 1 of the 2 common polymorphic forms of the human PrP (either methionine or valine at residue 129) on a mouse PrP null background ( 16 ). (cdc.gov)
  • The renin angiotensin system (RAS) has profound effects on atherosclerosis development in animal models, which is partially complimented by evidence in the human disease. (springer.com)
  • The consistent experimental literature has been complimented by a relatively uniform literature demonstrating a role for the RAS in human atherosclerotic disease. (springer.com)
  • Association of single nucleotide polymorphisms on chromosome 9p21.3 with platelet reactivity: a potential mechanism for increased vascular disease. (harvard.edu)
  • The conclusions, findings, and opinions expressed by authors contributing to this journal do not necessarily reflect the official position of the U.S. Department of Health and Human Services, the Public Health Service, the Centers for Disease Control and Prevention, or the authors' affiliated institutions. (cdc.gov)
  • Rearrangements of genetic material between chromosome 19 and one of several other chromosomes have been found in some forms of blood cancer (leukemia). (medlineplus.gov)
  • One human paralog was found when this protein was sequenced in BLAST. (wikipedia.org)
  • A 2010 Gallup poll found that 40% of Americans believe God created humans in their present form, versus 54% who said humans developed over millions of years. (cnn.com)
  • Because a similar cluster is found in other primates [16], [24], which share Alu repeats with humans, it can be proposed that Alu expansion and growth of this cluster has occurred in parallel. (nih.gov)
  • They found that all of these genes are concentrated on the tip of the short arm of the X, whereas they are scattered across the length of the Y. In general, the order of the genes is not consistent between the two chromosomes. (mit.edu)
  • Each cell holds more than 50,000 different genes found on 46 chromosomes of tightly coiled DNA. (ec-online.net)
  • However, using human exon 123 as probe (or subsets thereof), nothing is found in these databases, though mouse exon 123 and mouse exon 13 yield solid returns. (mad-cow.org)
  • A challenge of using these strains is that HCMV strains grown in culture lack up to 19 genes found in clinical isolates of HCMV virus [10]. (kenyon.edu)
  • Chromosomes are found in pairs within the cell. (lifelearn-cliented.com)
  • Some disorders are sex-linked, meaning that they are found on the X chromosome. (lifelearn-cliented.com)
  • This procedure results in T-bands as darkly stained segments in lightly stained chromosomes. (scielo.br)
  • a researcher at the University of Minnesota College of Biological Sciences discovered that the linear arrangement of genes on a chromosome corresponds to the development of body segments in fruit flies ? (thefullwiki.org)
  • Cloning of Large Segments of Exogenous DNA into Yeast by Means of Artificial Chromosome Vectors," Science, 236:806-812 (1987). (freepatentsonline.com)