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.

Comparative molecular genetic profiles of anaplastic astrocytomas/glioblastomas multiforme and their subsequent recurrences. (1/809)

Malignant glial tumors (anaplastic astrocytomas and glioblastomas multiforme) arise mostly either from the progression of low grade precursor lesions or rapidly in a de novo fashion and contain distinct genetic alterations. There is, however, a third subset of malignant gliomas in which genetic lesions remain to be identified. Following surgical resection, all gliomas appear to have an inherent tendency to recur. Comparative molecular analysis of ten primary malignant gliomas (three anaplastic astrocytomas and seven glioblastomas multiforme) with their recurrences identified two distinct subgroups of recurrent tumors. In one group, primary tumors harbored genetic aberrations frequently associated with linear progression or de novo formation pathways of glial tumorigenesis and maintained their genetic profiles upon recurrence. In the other subset with no detectable known genetic mutations at first presentation, the recurrent tumors sustained specific abnormalities associated with pathways of linear progression or de novo formation. These included loss of genes on chromosomes 17 and 10, mutations in the p53 gene, homozygous deletion of the DMBTA1 and p16 and/ or p15 genes and amplification and/or overexpression of CDK4 and alpha form of the PDGF receptor. Recurrent tumors from both groups also displayed an abnormal expression profile of the metalloproteinase, gel A, and its inhibitor, TIMP-2, consistent with their highly invasive behavior. Delineation of the molecular differences between malignant glioblastomas and their subsequent recurrences may have important implications for the development of rational clinical approaches for this neoplasm that remains refractory to existing therapeutic modalities.  (+info)

Polymorphisms in PTEN in breast cancer families. (2/809)

Germline mutations in PTEN are the underlying genetic defect in Cowden disease, which is associated with a lifetime risk of 25-50% of developing breast cancer. To investigate the role of PTEN in inherited breast cancer in the absence of manifestations of Cowden disease, we screened 177 unrelated subjects with breast cancer who also had a family history of breast cancer in at least one relative. We found no disease associated PTEN mutations in this cohort, supporting previous studies suggesting that PTEN mutations do not contribute to inherited susceptibility to breast cancer without associated manifestations of Cowden disease. We did identify an association between a common polymorphism in intron 4 and lower mean age of diagnosis of breast cancer. While preliminary, these findings suggest that further study is warranted to determine whether this allelic variant of PTEN could function as a low penetrance breast cancer susceptibility allele.  (+info)

Regulation of G1 progression by the PTEN tumor suppressor protein is linked to inhibition of the phosphatidylinositol 3-kinase/Akt pathway. (3/809)

PTEN/MMAC1 is a tumor suppressor gene located on chromosome 10q23. Inherited PTEN/MMAC1 mutations are associated with a cancer predisposition syndrome known as Cowden's disease. Somatic mutation of PTEN has been found in a number of malignancies, including glioblastoma, melanoma, and carcinoma of the prostate and endometrium. The protein product (PTEN) encodes a dual-specificity protein phosphatase and in addition can dephosphorylate certain lipid substrates. Herein, we show that PTEN protein induces a G1 block when reconstituted in PTEN-null cells. A PTEN mutant associated with Cowden's disease (PTEN;G129E) has protein phosphatase activity yet is defective in dephosphorylating inositol 1,3,4,5-tetrakisphosphate in vitro and fails to arrest cells in G1. These data suggest a link between induction of a cell-cycle block by PTEN and its ability to dephosphorylate, in vivo, phosphatidylinositol 3,4,5-trisphosphate. In keeping with this notion, PTEN can inhibit the phosphatidylinositol 3,4, 5-trisphosphate-dependent Akt kinase, a downstream target of phosphatidylinositol 3-kinase, and constitutively active, but not wild-type, Akt overrides a PTEN G1 arrest. Finally, tumor cells lacking PTEN contain high levels of activated Akt, suggesting that PTEN is necessary for the appropriate regulation of the phosphatidylinositol 3-kinase/Akt pathway.  (+info)

Analysis of the 10q23 chromosomal region and the PTEN gene in human sporadic breast carcinoma. (4/809)

We examined a panel of sporadic breast carcinomas for loss of heterozygosity (LOH) in a 10-cM interval on chromosome 10 known to encompass the PTEN gene. We detected allele loss in 27 of 70 breast tumour DNAs. Fifteen of these showed loss limited to a subregion of the area studied. The most commonly deleted region was flanked by D10S215 and D10S541 and encompasses the PTEN locus. We used a combination of denaturing gradient gel electrophoresis and single-strand conformation polymorphism analyses to investigate the presence of PTEN mutations in tumours with LOH in this region. We did not detect mutations of PTEN in any of these tumours. Our data show that, in sporadic breast carcinoma, loss of heterozygosity of the PTEN locus is frequent, but mutation of PTEN is not. These results are consistent with loss of another unidentified tumour suppressor in this region in sporadic breast carcinoma.  (+info)

Genetic aberrations in glioblastoma multiforme: translocation of chromosome 10 in an O-2A-like cell line. (5/809)

We have examined the genetic aberrations in two near-diploid glioblastoma multiforme cell lines that appear to have arisen from different glial lineages. One cell line, Hu-O-2A/Gb1, expresses antigens and metabolic profiles characteristic of the oligodendrocyte-type-2 astrocyte (0-2A) lineage of the rat central nervous system. This line generates, in vitro, cells with characteristics of 0-2A progenitor cells, oligodendrocytes and astrocytes. The second cell line, IN1434, is derived from an astrocyte or a precursor cell restricted to astrocytic differentiation. In Hu-O-2A/Gb1 the sole homologue of chromosome 10 is disrupted at band 10p11-12.1 by translocation with chromosomes X and 15. The translocation breakpoint is localized between genetic markers D10S2103 and [D10S637, D10S1962, D10S355]. Other aberrations include a 5;14 translocation, deletion of the long and short arms of chromosome 16 and loss of one copy of the CDKN2 gene. IN1434 cells share some cytogenetic abnormalities with Hu-O-2A/Gb1 cells, despite their apparent derivation from a different biological origin, but also have translocations involving the long and short arms of chromosome 1 and the long arm of chromosome 7, and deletion of chromosome 13 at bands 13q12-21.  (+info)

Exclusion of a major role for the PTEN tumour-suppressor gene in breast carcinomas. (6/809)

PTEN is a novel tumour-suppressor gene located on chromosomal band 10q23.3. This region displays frequent loss of heterozygosity (LOH) in a variety of human neoplasms including breast carcinomas. The detection of PTEN mutations in Cowden disease and in breast carcinoma cell lines suggests that PTEN may be involved in mammary carcinogenesis. We here report a mutational analysis of tumour specimens from 103 primary breast carcinomas and constitutive DNA from 25 breast cancer families. The entire coding region of PTEN was screened by single-strand conformation polymorphism (SSCP) analysis and direct sequencing using intron-based primers. No germline mutations could be identified in the breast cancer families and only one sporadic carcinoma carried a PTEN mutation at one allele. In addition, all sporadic tumours were analysed for homozygous deletions by differential polymerase chain reaction (PCR) and for allelic loss using the microsatellite markers D10S215, D10S564 and D10S573. No homozygous deletions were detected and only 10 out of 94 informative tumours showed allelic loss in the PTEN region. These results suggest that PTEN does not play a major role in breast cancer formation.  (+info)

Cloning and characterization of a secreted frizzled-related protein that is expressed by the retinal pigment epithelium. (7/809)

The Wnt/frizzled cell signaling pathway has been implicated in the determination of polarity in a number of systems, including the Drosophila retina. The vertebrate retina develops from an undifferentiated neuroepithelium into an organized and laminated structure that demonstrates a high degree of polarity at both the tissue and cellular levels. In the process of searching for molecules that are preferentially expressed by the vertebrate retinal pigment epithelium (RPE), we identified secreted frizzled-related protein 5 (SFRP5), a member of the SFRP family that appears to act by modulating Wnt signal transduction. SFRP5 is highly expressed by RPE cells, and is also expressed in the pancreas. Within the retina, the related molecule SFRP2 is expressed specifically by cells of the inner nuclear layer. Thus, photoreceptors are likely to be bathed by two opposing gradients of SFRP molecules. Consistent with SFRP5 's postulated role in modulating Wnt signaling in the retina, it inhibits the ability of Xwnt-8 mRNA to induce axis duplication in Xenopus embryos. The human SFRP5 gene consists of three coding exons and it maps to chromosome 10q24.1; human SFRP2 maps to 4q31.3. Based on the biology and complementary expression patterns of SFRP2 and SFRP5, we suggest that they may be involved in determining the polarity of photoreceptor, and perhaps other, cells in the retina.  (+info)

Frequent loss of heterozygosity for chromosome 10 in uterine leiomyosarcoma in contrast to leiomyoma. (8/809)

Distinction of malignant uterine leiomyosarcomas from benign leiomyomas by morphological criteria is not always possible. Leiomyosarcomas typically have complex cytogenetic abnormalities; in contrast, leiomyomas have simple or no cytogenetic abnormalities. To understand better the biological distinction(s) between these tumors, we analyzed two other potential markers of genomic instability, loss of heterozygosity (LOH) and microsatellite instability. We examined archival materials from 16 leiomyosarcomas and 13 benign leiomyomas by polymerase chain reaction for 26 microsatellite polymorphisms. Markers were selected based on previous reports of cytogenetic or molecular genetic abnormalities in leiomyosarcomas or leiomyomas and surveyed chromosomes 7, 9, 10, 11, 12, 14, 15, 16, 18, 21, and X. LOH for markers on chromosomes 15, 18, 21, and X was infrequent in leiomyosarcomas (1 of 6 tumors for each chromosome) and not observed for markers on chromosomes 7, 9, 11, 12, 14, or 16. Interestingly, 8 of 14 (57.2%) informative leiomyosarcomas had LOH for at least one marker on chromosome 10 and involved both chromosomal arms in 45.5% (5 of 11). In contrast to leiomyosarcomas, LOH for chromosome 10 was not found in 13 benign leiomyomas. Microsatellite instability was found infrequently in leiomyosarcomas and not detected in leiomyoma. Clinicopathological features (eg, atypia, necrosis, and clinical outcome) did not appear to correlate with LOH for chromosome 10. In contrast to other chromosomes studied, LOH on chromosome 10 was frequent in leiomyosarcomas and absent in benign leiomyomas.  (+info)

The depurination of DNA as the first step of the Epitect Bisulfite kit (cat. no. 59104) workflow is a chemical reaction, theres no problem at all using the DNA directly after enzymatic reaction. ...
Reaktivität: Human, Affe, Maus and more. 51 verschiedene PTCHD3 Antikörper vergleichen. Alle direkt auf antikörper-online bestellbar!
Complete information for PTCHD1 gene (Protein Coding), Patched Domain Containing 1, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
Facioscapulohumeral muscular dystrophy (FSHD), caused by partial deletion of the D4Z4 macrosatellite repeat on chromosome 4q, has a complex genetic and epigenetic etiology. To develop FSHD, D4Z4 contraction needs to occur on a specific genetic background. Only contractions associated with the 4qA161 haplotype cause FSHD.
TY - JOUR. T1 - Genetic and physical mapping on chromosome 4 narrows the localization of the gene for facioscapulohumeral muscular dystrophy (FSHD). AU - Mills, K. A.. AU - Buetow, K. H.. AU - Xu, Y.. AU - Ritty, T. M.. AU - Mathews, K. D.. AU - Bodrug, S. E.. AU - Wijmenga, C.. AU - Balazs, I.. AU - Murray, J. C.. PY - 1992/1/1. Y1 - 1992/1/1. N2 - We have used a combination of classical RFLPs and PCR-based polymorphisms including CA repeats and single-strand conformation polymorphisms to generate a fine-structure genetic map of the distal long arm of chromosome 4q. This map is now genetically linked to the pre-existing anchor map of 4pter-4q31 and generates, for the first time, a complete linkage map of this chromosome. The map consists of 32 anchor loci placed with odds of greater than 1,000:1. The high-resolution map in the cytogenetic region surrounding 4q35 provides the order 4cen-D4S171-F11-D4S187-D4S163-D4S139-4qter. When we used somatic cell hybrids from a t(X;4)(p21;q35) translocation, ...
Facioscapulohumeral muscular dystrophy (FSHD) affects over 25,000 people in the USA alone, making it one of the most prevalent genetic diseases. The genetic mutation underlying FSHD is usually a reduction in the copy number of a macrosatellite repeat on chromosome 4 referred to as D4Z4 (van Deutekom et al., 1993; Wijmenga et al., 1992). This repeat is GC-rich, highly methylated and normally subjected to repeat-induced silencing, which is disrupted in an allele-specific manner by contractions to 10 or fewer copies (van Overveld et al., 2003) or is disrupted on all D4Z4 repeats owing to mutation in the chromatin protein SMCHD1 (de Greef et al., 2009; Hartweck et al., 2013; Lemmers et al., 2012). When silencing at D4Z4 breaks down, an RNA transcript encoding the DUX4 protein (Gabriëls et al., 1999) is expressed. The presence of a poly(A) signal downstream of the D4Z4 repeats on chromosome 4 (chr4) (Dixit et al., 2007) leads to DUX4 expression and explains why disease is associated only with ...
Facioscapulohumeral muscular dystrophy (FSHD) isan enigmatic inherited disorder, while the disease locus for this condition was mapped some 17 years ago and the mutations associated with the disease are known, the exact identity of the FSHD gene remains elusive
Part 1 (dose escalation, open-label) Part 1 will consist of up to 6 cohorts (A to F) of patients and will evaluate multiple ascending dose levels of ACE-083 in either the tibialis anterior (TA) or biceps brachii (BB) muscle. Patients in each cohort will be enrolled in a 4-week screening period before beginning treatment. A Safety Review Team (SRT) will meet to review data for each cohort when at least 4 patients within a cohort have completed their Day 43 visit prior to dose escalation.. Part 2 (randomized, double-blind, placebo-controlled) Prior to the initiation of Part 2, a review of safety and efficacy data from Part 1 will be conducted to determine whether cohorts for one or both muscles will be pursued in Part 2, as well as the recommended dose level for each muscle. A total of up to 40 new patients (20 patients per muscle) may be enrolled and randomized (3:2) to receive either ACE-083 (n=12) or placebo (n=8) unilaterally or bilaterally (if both sides are affected per inclusion criteria) ...
Facioscapulohumeral muscular dystrophy (FSHD) patients carry contractions of the D4Z4-tandem repeat array on chromosome 4q35. Decrease in D4Z4 copy number is thought to alter a chromatin structure and activate expression of neighboring genes. D4Z4 contains a putative double-homeobox gene called DUX4 …
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TY - JOUR. T1 - Microenvironment regulates the expression of MIR-21 and tumor suppressor genes PTEN, PIAS3 and PDCD4 through ZAP-70 in chronic lymphocytic leukemia. AU - Carabia, Júlia. AU - Carpio, Cecilia. AU - Abrisqueta, Pau. AU - Jiménez, Isabel. AU - Purroy, Noelia. AU - Calpe, Eva. AU - Palacio, Carles. AU - Bosch, Francesc. AU - Crespo, Marta. PY - 2017/12/1. Y1 - 2017/12/1. N2 - © 2017 The Author(s). Chronic lymphocytic leukemia (CLL) cells are highly dependent on microenvironment, being the BCR pathway one key player in this crosstalk. Among proteins participating, ZAP-70 enhances response to microenvironmental stimuli. MicroRNA-21 (miR-21) is overexpressed in diverse neoplasias including CLL, where it has been associated to refractoriness to fludarabine and to shorter time to progression and survival. To further elucidate the role of ZAP-70 in the biology of CLL, we studied its involvement in miR-21 regulation. MiR-21 expression was higher in CLL cells with high ZAP-70. Ectopic ...
The study aim was to investigate the impacts of the expressions of tumor suppressor gene phosphatase and tensin homolog deleted on chromosome ten (PTE..
TY - JOUR. T1 - Facioscapulohumeral muscular dystrophy region gene 1 Is a dynamic RNA-associated and actin-bundling protein. AU - Sun, Chia Yun Jessica. AU - Van Koningsbruggen, Silvana. AU - Long, Steven W.. AU - Straasheijm, Kirsten. AU - Klooster, Rinse. AU - Jones, Takako I.. AU - Bellini, Michel. AU - Levesque, Lyne. AU - Brieher, William M.. AU - Van Der Maarel, Silvère M.. AU - Jones, Peter L.. PY - 2011/8/12. Y1 - 2011/8/12. N2 - FSHD region gene 1 (FRG1) is a dynamic nuclear and cytoplasmic protein that, in skeletal muscle, shows additional localization to the sarcomere. Maintaining appropriate levels of FRG1 protein is critical for muscular and vascular development in vertebrates; however, its precise molecular function is unknown. This study investigates the molecular functions of human FRG1, along with mouse FRG1 and Xenopus frg1, using molecular, biochemical, and cellular-biological approaches, to provide further insight into its roles in vertebrate development. The nuclear ...
Hroniska obstruktīva plaušu slimība (HOPS, latīņu: morbus obturativus pulmonum chronicum) ir viens no obstruktīvo plaušu slimību tipiem, raksturojas ar gaisa plūsmas traucējumiem. Parasti laika gaitā stāvoklis kļūst smagāks. Galvenie simptomi ir aizdusa, klepus, krēpu izdalīšanās.[1] Hroniska obstruktīva plaušu slimība ir gandrīz visiem cilvēkiem, kas slimo ar hronisko bronhītu.[2] Visbiežākais slimības ierosinātājs ir tabakas smēķēšana. Mazāk ietekmē gaisa piesārņojums un ģenētika.[3] Ilgtermiņa iedarbība uz kairinātājiem izraisa iekaisumu plaušās, kura rezultātā mazie elpceļi sašaurinās un notiek emfizēma (plaušu parenhīmas destrukcija).[4] Atklāt slimību var pēc vājas gaisa plūsmas plaušu testā.[5] Atšķirībā no astmas, gaisa plūsmu nevar uzlabot ar medikamentiem. Hronisku obstruktīvu plaušu slimību var novērst, samazinot zināmo cēloņu ietekmi. Var samazināt smēķēšanas biežumu, uzlabot iekštelpu un āra gaisa ...
PLAU is a protease that converts plasminogen to plasmin. It appears to affect murine ageing: its overexpression in the brain diminishes food consumption and extends longevity probably through a mechanism similar to caloric restriction [13]. It is unclear at present whether PLAU affects human ageing, despite some evidence linking PLAU to age-related neurological diseases [374]. ...
Study showed that the variability in clinical severity of facioscapulohumeral muscular dystrophy in FSHD1 and FSHD2 individuals is dependent on individual differences in susceptibility to D4Z4 hypomethylation ...
Derepression of in skeletal muscle has emerged as a likely cause of pathology in facioscapulohumeral muscular dystrophy (FSHD). Here we report on the use of ...
Build: Wed Jun 21 18:33:50 EDT 2017 (commit: 4a3b2dc). National Center for Advancing Translational Sciences (NCATS), 6701 Democracy Boulevard, Bethesda MD 20892-4874 • 301-435-0888. ...
109733592(LOC109733592) 109734721(LOC109734721) 109735060(LOC109735060) 109735370(LOC109735370) 109736317(LOC109736317) 109738587(LOC109738587) 109739375(LOC109739375) 109739951(LOC109739951) 109752468(LOC109752468) 109753193(LOC109753193) 109754271(LOC109754271) 109758706(LOC109758706) 109759398(LOC109759398) 109762420(LOC109762420) 109762466(LOC109762466) 109763463(LOC109763463) 109764514(LOC109764514) 109765259(LOC109765259) 109765833(LOC109765833) 109771924(LOC109771924) 109773752(LOC109773752) 109774461(LOC109774461) 109774463(LOC109774463) 109775363(LOC109775363) 109775375(LOC109775375) 109775629(LOC109775629) 109775824(LOC109775824) 109784012(LOC109784012) 109785922 ...
遺伝子「LOC282551」の詳細情報です。J-GLOBAL 科学技術総合リンクセンターは研究者、文献、特許などの情報をつなぐことで、異分野の知や意外な発見などを支援する新しいサービスです。またJST内外の良質なコンテンツへ案内いたします。
A recent finding by medical geneticists sheds new light on how facioscapulohumeral muscular dystrophy develops and how it might be treated. More commonly known as FSHD, the devastating disease affects both men and women. FSHD is usually an inherited genetic disorder, yet sometimes appears spontaneously via new mutations in individuals with no family history of the condition. People with the condition experience progressive muscle weakness and about 1 in 5 require wheelchair assistance by age 40, said Dr. Daniel G. Miller, University of Washington (UW) associate professor of pediatrics in the Division of Genetic Medicine. Dr. Miller and his worldwide collaborators study the molecular events leading to symptoms of FSHD in the hopes of designing therapies to prevent the emergence of symptoms or reduce their severity. In the November 11, 2012 online issue of Nature Genetics, Dr. Miller and Dr. Silvere M. van der Maarel of Leiden University in The Netherlands, along with an international team, ...
Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are inherited disorders characterized by progressive muscle weakness and loss of muscle tissue. The purpose of this registry is to connect people with DM or FSHD with researchers studying these diseases. The registry will offer individuals with DM and FSHD an opportunity to participate in research that focuses of their diseases. The registry will also help scientists to accomplish research on DM and FSHD and to distribute their findings to patients and care providers ...
1: Lemmers RJ, Wohlgemuth M, van der Gaag KJ, van der Vliet PJ, van Teijlingen CM, de Knijff P, Padberg GW, Frants RR, van der Maarel SM. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet 2007; 81(5):884-94.. 2: Ehrlich M, Jackson K, Tsumagari K, Camaño P, Lemmers RJ. Hybridization analysis of D4Z4 repeat arrays linked to FSHD.Chromosoma 2007; 116(2):107-16.. 3: Lemmers RJ, van der Wielen MJ, Bakker E, Padberg GW, Frants RR, van der MaarelSM. Somatic mosaicism in FSHD often goes undetected.Ann Neurol 2004 Jun; 55(6):845-50.. 4: Lemmers RJ, Osborn M, Haaf T, Rogers M, Frants RR, Padberg GW, Cooper DN, van der Maarel SM, Upadhyaya M. D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection. Neurology 2003 Jul 22; 61(2):178-83.. 5: Lemmers RJ, de Kievit P, Sandkuijl L, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM. Facioscapulohumeral muscular dystrophy is uniquely associated ...
Cowden disease, also termed Cowden syndrome and multiple hamartoma syndrome, is an autosomal dominant condition with variable expression that can be associated with a mutation in the PTEN gene on arm 10q, as reported by Liaw et al. Originally described in 1963 by Lloyd and Dennis, Cowden disease (multiple hamartoma syndrome) was named after t...
Epigenetic Gene expression and Chromatin dynamics in Facioscapulohumeral Muscular Dystrophy (FSHD). Facioscapulohumeral muscular dystrophy (FSHD) is a debilitating genetic condition manifest by weakness of facial and upper extremity musculature that presents in the 2nd decade of life. The causative genetic event is a contraction of a subtelomeric array of repeated 3.3 kb sequence units residing on one of two common alleles of chromosome 4. How this array contraction translates into cellular differences that result in weakness of select muscle groups is a fascinating question that is not presently understood. Each D4Z4 repeat unit contains a large open reading frame that encodes a putative double homeodomain containing protein named DUX4 making aberrant expression, or expression of aberrant DUX4 isoforms an attractive mechanism for FSHD pathology. Our long term objectives are to understand how muscle strength is compromised as a result of molecular events initiated by these contractions. With ...
Methylation analysis of the phosphates and tensin homologue on chromosome 10 gene PTEN in multiple myeloma. . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis universitarias en PDF. Material universiario, documentación y tareas realizadas por universitarios en nuestra biblioteca. Para descargar gratis y para leer online.
Guoping Feng and Michael Halassa create mice with global or thalamic-specific loss of the ASD-risk gene PTCHD1 to show specific roles for thalamic PTCHD1 in…
Chromophobe renal cell carcinoma is a rare type of kidney cancer that develops in cells that are involved in the production of urine. Cancers form when a change (mutation) in DNA causes certain cells to grow out of control, sometimes forming a lump or a tumor. Some of these cancerous cells can break off and spread to other parts of the body where they will continue to grow (metastasis). Chromophobe renal cell carcinoma usually occurs in adults between the ages of 40 and 60, although it can appear in all age groups. This type of carcinoma is associated with Birt-Hogg-Dubé syndrome, an inherited disorder caused by a mutation in the FLCN gene. The FLCN gene is involved in regulating cell growth, and a mutation in this gene can cause cells to grow out of control. This situation places affected individuals at higher risk of developing chromophobe renal cell carcinoma as well as noncancerous growths in the kidneys, lungs, and hair follicles. Common symptoms include the presence of blood in the urine, ...
Chromophobe renal cell carcinoma is a rare type of kidney cancer that develops in cells that are involved in the production of urine. Cancers form when a change (mutation) in DNA causes certain cells to grow out of control, sometimes forming a lump or a tumor. Some of these cancerous cells can break off and spread to other parts of the body where they will continue to grow (metastasis). Chromophobe renal cell carcinoma usually occurs in adults between the ages of 40 and 60, although it can appear in all age groups. This type of carcinoma is associated with Birt-Hogg-Dubé syndrome, an inherited disorder caused by a mutation in the FLCN gene. The FLCN gene is involved in regulating cell growth, and a mutation in this gene can cause cells to grow out of control. This situation places affected individuals at higher risk of developing chromophobe renal cell carcinoma as well as noncancerous growths in the kidneys, lungs, and hair follicles. Common symptoms include the presence of blood in the urine, ...
TY - JOUR. T1 - Chromophobe renal cell carcinoma with sarcomatoid differentiation. AU - Lauer, Scott R.. AU - Zhou, Ming. AU - Master, Viraj A.. AU - Osunkoya, Adeboye O.. PY - 2013/4/1. Y1 - 2013/4/1. N2 - OBJECTIVE: To investigate the clinicopathologic features of chromophobe renal cell carcinoma with sarcomatoid differentiation. STUDY DESIGN: A search was made through the surgical pathology and expert consult files of two major academic institutions from 2003 to 2011 for cases of chromophobe renal cell carcinoma with sarcomatoid differentiation. RESULTS: Fourteen patients were identified. The patients included 9 males (64%) and 5 females (36%). The mean patient age was 60.4 years (range, 40-82 years). There was a left-sided predominance: left (9 patients) and right (5 patients). The mean tumor size was 14.6 cm (range, 9.5-28.0 cm), and the mean percentage sarcomatoid differentiation was 67% (range, 30-99%). All tumors exhibited moderate to extensive areas of necrosis. The nonsarcomatoid ...
TY - JOUR. T1 - Non-Union After Multiple Lumbar Fusion Surgeries in a Patient With Facioscapulohumeral Muscular Dystrophy. T2 - A Case Report and Review of the Literature. AU - Mehta, Anuj V.. AU - Maurer, Robert. AU - Reiter, G. Timothy. N1 - Funding Information: Conflict of interest statement: All authors declare that the article content was composed in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. Publisher Copyright: © 2020 Elsevier Inc. Copyright: Copyright 2020 Elsevier B.V., All rights reserved.. PY - 2020/7. Y1 - 2020/7. N2 - Background: Facioscapulohumeral muscular dystrophy (FSHD) is a rare condition affecting 1/20,000 persons and the third most common muscular dystrophy condition, with an autosomal dominant pattern of inheritance characterized by progressive muscular weakness primarily involving the face, shoulder girdle, and upper arm. The condition is associated with atrophic musculature of the trunk and core ...
Background: Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder associated with the partial deletion of integral numbers of 3.3 kb D4Z4 DNA repeats within the subtelomere of chromosome 4q. A number of candidate FSHD genes, adenine nucleotide translocator 1 gene (ANT1), FSHD-related gene 1 (FRG1), FRG2 and DUX4c, upstream of the D4Z4 array (FSHD locus), and double homeobox chromosome 4 (DUX4) within the repeat itself, are upregulated in some patients, thus suggesting an underlying perturbation of the chromatin structure. Furthermore, a mouse model overexpressing FRG1 has been generated, displaying skeletal muscle defects. Results: In the context of myogenic differentiation, we compared the chromatin structure and tridimensional interaction of the D4Z4 array and FRG1 gene promoter, and FRG1 expression, in control and FSHD cells. The FRG1 gene was prematurely expressed during FSHD myoblast differentiation, thus suggesting that the number of D4Z4 repeats in ...
Our main purpose was to identify tumor suppressor gene loci on chromosome 13 responsible for nasopharyngeal cancer (NPC) development by analyzing loss of heterozygosity (LOH) and RB protein expression in paraffin embedded tissues. Normal and tumor DNA were extracted from microdissected samples, and …
The purpose of this study is to establish a standardized functional testing protocol and measure longitudinal changes in muscle strength and function among patients with infantile onset FSHD, to describe the longitudinal changes in clinical phenotypes of infantile FSHD, to evaluate the long-term impact of physical impairment, secondary health conditions, activity limitations and disability caused by FSHD on health-related quality of life and disability, and to evaluate genetic modifiers and biomarkers of clinical phenotypes and disease progression in infantile FSHD ...
The relationship of phenotype to genotype in a clinically and genetically well defined population of 157 affected patients and 62 kindreds with facioscapulohumeral muscular dystrophy (FSHD) was examined at the University of Rochester School of Medicine, NY, and Ohio State University, Columbus, OH. Using isometric myometry scores to quantify disease severity, a significant correlation between disease severity and the size of the 4q35-associated deletion was evident, and the offspring were more severely affected than their parents. This generation effect and presence of anticipation in FSHD suggests a possible underlying dynamic mutation and an unstable repeat element within the region of the 4q35 deletion. [1]. COMMENT. These findings have important significance in the genetic counselling of patients with FSHD. No differences in severity of disease were noted between paternally and maternally inherited FSHD, but a reduction in reproductive fitness in male compared to female patients was an ...
An NIH funded, Senatory Paul D. Wellstone Muscular Dystrophy Cooperative Research Center (MDCRC) has recently been established entitled Biomarkers for therapy of FSHD (facioscapulohumeral muscular dystrophy). This multi-institutional MDCRC will be directed by Charles Emerson, Ph.D. at Boston Biomedical Research Institute. The PI (in addition to having a project that is not being reviewed by the IRB at this time) is a co-director of the Centers Cell core. This core will be a national repository of muscle tissue, cells, and DNA for studies in FSHD.
Watertown, MA-Daniel Perez, co-founder, President and CEO of the FSH Society and a 48-year-old patient with facioscapulohumeral muscular dystrophy (FSHD), the most common form of muscular dystrophy, hailed new findings,… Read More ». ...
Health,Boston MA (PRWEB) January 24 2013 Facioscapulohumeral muscular dystrophy (FSHD) is a disease most people have never heard of even though it is one of the most common forms of muscular dystrophy. Having a name that is daunting to pronounce and spell doesnt help. But being an
Lemmers RJLF, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW et al.. 2010. A unifying genetic model for facioscapulohumeral muscular dystrophy.. Science (New York, N.Y.). 329(5999):1650-3. Abstract ...
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Despite multiple studies, many clinicopathologic issues about chromophobe renal cell carcinoma (RCC) remain contentious; for example, its biological behavior-whether better or similar to papillary RCC, the incidence of sarcomatoid features, and whether pathologic features such as necrosis, nuclear g
A total of 83 prostate adenocarcinomas was evaluated for allelic loss on chromosome 10 by analysis of loss of polymorphic microsatellite repeats. Initially, 64 stage B carcinomas were analyzed at 12 loci on chromosome 10. Nine cases showed loss of chromosome 10 sequences, with a fractional allelic loss of 20%. These nine cases were then analyzed at an additional 19 loci to define better the regions of loss. Four areas of loss were identified, including 10p (2 of 64 cases), 10q23.1 (7 of 64 cases), 10q23.3 (4 of 64 cases), and 10q26 (2 of 64 cases). Three loci in these regions, D10S111, D10S185, and D10S192, were then analyzed in 19 advanced (stage C and D) carcinomas. Seven (37%) of 19 advanced carcinomas showed allelic loss at one or more of these loci. A statistically significant increase in the fractional allelic loss at both D10S111 (10p) and D10S185 (10q23.1) was observed. Thus, a complex pattern of loss is seen on chromosome 10 in prostate carcinoma, with regions of loss on 10p and 10q, ...
Datasets are collections of data. BioGPS has thousands of datasets available for browsing and which can be easily viewed in our interactive data chart. Learn more.. ...
The goal of this study is to confirm the genetic status of Registry members with suspected FSHD. Genetic testing (DNA testing) by a blood draw can determine whether a patient has FSHD1, FSHD2, or neither. Clinical trials for FSHD often require patients to have had a genetically confirmed FSHD to participate. This study will increase the number of Registry members able to participate in future clinical trials ...
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Xiao, Y.; Rabien, A.; Buschow, R.; Amstislavskiy, V.; Busch, J.; Kilic, E.; Villegas, S. L.; Timmermann, B.; Schütte, M.; Mielke, T. et al.; Yaspo, M.-L.; Jung, K.; Meierhofer, D.: Endocytosis-mediated replenishment of amino acids favors cancer cell proliferation and survival in chromophobe renal cell carcinoma. Cancer research: an official organ of the American Association for Cancer Research 2020 (2020 ...
A study published last year by Margaret Pericak-Vance et al. (JAMA 1997;278) reported a putative locus for late-onset Alzheimers disease (LOAD) at chromosome 12p11-12, and set off a race to confirm and nail down the gene.... ...
PTEN is a tumor suppressor gene that is frequently deleted or mutated in a variety of human cancers, including prostate, breast, endometrial, lung, and ovarian cancers. In prostate cancer cells, PTEN deletion is the most common event observed. The loss of PTEN is thought to play and important role in tumor cell proliferation and metastasis due to a lack of control of the signaling pathways that mediate cellular processes such as apoptosis and migration. Previously PTEN had been shown to down regulate cyclin D1 expression as well as regulate p53 protein levels and transcriptional activity, and recently the inventors of this technology have shown that PTEN decreases surface IGF-IR protein levels in prostate cancer cell lines in an Akt-independent manner ...
TY - JOUR. T1 - MRI features of renal oncocytoma and chromophobe renal cell carcinoma. AU - Taneja, Samir S.. N1 - Copyright: Copyright 2018 Elsevier B.V., All rights reserved.. PY - 2011/6. Y1 - 2011/6. UR - http://www.scopus.com/inward/record.url?scp=79955845369&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=79955845369&partnerID=8YFLogxK. U2 - 10.1016/S0022-5347(11)60257-7. DO - 10.1016/S0022-5347(11)60257-7. M3 - Comment/debate. AN - SCOPUS:79955845369. VL - 185. SP - 2098. EP - 2099. JO - Investigative Urology. JF - Investigative Urology. SN - 0022-5347. IS - 6. ER - ...
ABSTRACT Objective: To evaluate the preoperative imaging manifestation and therapeutic effect of laparoscopic simple enucleation (SE) for localized chromophobe renal cell carcinoma (chRCC).. Materials and Methods: Clinical data of 36 patients who underwent laparoscopic SE of localized chRCC at our institute were retrospectively analyzed. All patients underwent preoperative renal protocol CT (unenhanced, arterial, venous, and delayed images). CT scan characteristics were evaluated. After intraoperative occlusion of the renal artery, the tumor was free bluntly along the pseudocapsule and enucleated totally. The patients were followed up regularly after the operation.. Results: Mean tumor diameter was 3.9±1.0 cm, 80% of tumors were homogeneous and all the tumors had complete pseudocapsule. The attenuation values were slightly lower than normal renal cortex and degree of enhancement of the tumors were significantly lower than normal renal cortex. Mean operation time was 104.3±18.2 min. Mean warm ...
TY - JOUR. T1 - Selective Efficacy of Temsirolimus on Bone Metastases in Chromophobe Renal Cell Carcinoma. AU - Huelsmann, Lorel. AU - Kim, D. Nathan W.. AU - Hannan, Raquibul. AU - Watumull, Lori M.. AU - Brugarolas, James. PY - 2015/8/1. Y1 - 2015/8/1. KW - Bone remodeling. KW - Everolimus. KW - Mammalian target of rapamycin (mTOR). KW - Osteoclasts. KW - Tuberous Sclerosis Complex 1 (TSC1). UR - http://www.scopus.com/inward/record.url?scp=84936985359&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=84936985359&partnerID=8YFLogxK. U2 - 10.1016/j.clgc.2014.12.007. DO - 10.1016/j.clgc.2014.12.007. M3 - Article. C2 - 25620636. AN - SCOPUS:84936985359. VL - 13. SP - e321-e323. JO - Clinical Genitourinary Cancer. JF - Clinical Genitourinary Cancer. SN - 1558-7673. IS - 4. ER - ...
HER2/neu overexpression due to gene amplification is an important factor in breast cancer, modifying the sensitivity to anti-HER2 monoclonal antibody therapy. The clinical significance of HER2 expression in non small cell lung carcinoma (NSCLC) is currently under evaluation. The tumor suppressor gene PTEN negatively regulates the HER2/PI3K/Akt signalling pathway. The purpose of this study was to evaluate the role of simultaneous alteration in HER2 and PTEN protein expression in relation to biological behaviour of NSCLCs.. MATERIALS AND METHOD:. Protein expression was determined by immunohistochemistry in 82 NSCLC cases along with CISH for HER2 gene analysis and detection of chromosome 17 aneuploidy. Patients were followed-up for a period of 34 to 41 months after surgery.. RESULTS:. HER2 overexpression (2+/3+ score) was detected in 23 (27.9%) patients while loss of PTEN expression was observed in 32 (39.3%) cases, low expression in 39 (47.6%) and overexpression in 11(13.1%). Simultaneous HER2 ...
FSHD is the third most common muscular dystrophy in man with an estimated incidence of 54 per million. Patients suffer from progressive and irreversible weakness and wasting of the facial, shoulder and upper arm muscles. Approximately 20% of gene carriers become wheelchair dependent. There is no cure for FSHD.. Scientists at LUMC, in collaboration with other academic institutions, have discovered two novel target mechanisms whereby the two forms of FSHD can arise. The mechanisms represent targets for therapeutic intervention.. In addition, cell lines and mouse models of FSHD have been developed and can be used to further research the disease and/or to screen and validate potential therapeutics.. The collaborating institutions represent world-leading expertise in the field of FSHD and can also provide ongoing expertise.. Partner companies are now sought for research collaborations in this field, and licensing of key technologies available at the institutions.. ...
Cowden disease (CD), also termed Cowden syndrome and multiple hamartoma syndrome, is an autosomal dominant condition with variable expression that results from a mutation in the PTEN gene on chromosome arm 10q, as reported by Liaw et al. CD causes hamartomatous neoplasms of the skin and mucosa, GI tract, bones, central nervous system (CNS), eyes, and genitourinary tract. Skin is involved in 90-100% of cases; the thyroid in 66%.
Brian I. Rini, MD, presents a case study focused on the treatment of a 64 year-old male who presented with recurrent lung nodules 9 years after a left radical nephrectomy for a clear-cell renal ...
Summary: DUX4 underlies pathogenesis in facioscapulohumeral muscular dystrophy. DUX4 acts mainly as a transcriptional activator that inhibits myogenesis by orchestrating a gene expression profile representative of a more stem-cell-like state. ...
Nuramina gerklę ir bronchus (kvėpavimo takus, kurie perneša orą iš plaučių ir į plaučius). Padeda išstumti gleives. Laikoma atpalaiduojančia refleksine, atsikosėjimą lengvinančia priemone, kas reiškia, kad ji padeda sušvelninti kraujo priplūdimą, sumažindama gleivėtų išskyrų (skreplių) klampą, todėl jos lengviau išstumiamos.. ...
In humans, we have 23 pairs of chromosomes. Another example is maize which is also a diploid with 10 pairs of chromosomes. ... For diploid organisms such as humans and maize, each organism has two copies of a chromosome - one each from the two parents. ... However, with current technology, it is difficult to separate the two chromosomes within a pair and the assays produce the ... Variations in human genome have been long known to make us susceptible to many diseases. We are hurtling towards the era of ...
Human gene SIGIRR is localized on chromosome 11. It is composed of 10 exons spanning about 11 700 base pairs. In mouse, this ... gene is on chromosome 7, where it is composed of 9 exons spanning about 9 400 base pairs. SIGIRR is 410 amino acids long ... In human cells from colonic cancer, there was observed an increased expression of one variant of SIGIRR. This variant lacks its ... Human and mouse SIGIRR protein sequences are 82 %, identical and they are overall 23 % identical with IL-1R1. SIGIRR is ...
... is located on human Chromosome 2, at 2q31.1. It contains 10 distinct exons. The gene itself is 28,930 base pairs long ... This variant is also shorter than the other two at 1,063 base pairs. The ERICH2 protein is 436 amino acids in length, and has a ... Glutamate Rich Protein 2 is a protein in humans encoded by the gene ERICH2. This protein is expressed heavily in male tissues ... The longest transcript variant is 1,388 base pairs in length, 1,311 of which are coding. The second variant differs from the ...
Katoh M (August 2002). "Molecular cloning and characterization of OSR1 on human chromosome 2p24". International Journal of ... "Molecular analysis of odd-skipped, a zinc finger encoding segmentation gene with a novel pair-rule expression pattern". The ... Protein odd-skipped-related 1 is a transcription factor that in humans is encoded by the OSR1 gene.[5][6][7] The OSR1 and OSR2 ... A variant human OSR1 allele which does not produce a functional transcript and found in 6% of Caucasian populations, reduces ...
... of the human genome." They discovered that chromosome 19 has the highest gene density of any human chromosome, and were able to ... She and her team worked on sequencing and analyzing chromosomes 5, 16, and 19 -- "320 million base pairs . . . comprising more ... "GNN - Two More Human Chromosomes Are Complete". www.genomenewsnetwork.org. Retrieved 2017-03-02. Grimwood, Jane; Gordon, Laurie ... Grimwood was an important part of the Human Genome Project effort, working from the Stanford Human Genome Center. Grimwood ...
The gene product is a 6,657 base pair mRNA with 41 predicted exons in the human gene. Ensembl predicts ten alternative splice ... The predicted promoter region spans 1002 base pairs from 98,611,892 through 98,612,893 on the minus strand of chromosome 2. The ... The first spans 216 base pairs from 98,612,501 through 98,612,716. The second spans 182 base pairs from 98,612,262 through ... The human form has 1883 amino acid residues, with an isoelectric point of 8.74 and a molecular mass of 205,100 Daltons. It has ...
Human ARID5B genome location and ARID5B gene details page in the UCSC Genome Browser. Yuan YC, Whitson RH, Liu Q, Itakura K, ... The gene is located on the long arm of chromosome 10 (10q21.2) on the 'plus' strand. It spans 195,261 base pairs in length. It ... AT-rich interactive domain-containing protein 5B is a protein that in humans is encoded by the ARID5B gene. Alternative names ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Mouse PubMed ...
The human FABP1 gene is located on the short (p) arm of chromosome 2 from base pair 88,122,982 to base pair 88,128,131. FABP1 ... ten members of the FABP family have been identified on the human genome. Nine are well established (FABP1-9) with a recently ... FABP1 is a human gene coding for the protein product FABP1 (Fatty Acid-Binding Protein 1). It is also frequently known as liver ... Chan L, Wei CF, Li WH, Yang CY, Ratner P, Pownall H, Gotto AM, Smith LC (March 1985). "Human liver fatty acid binding protein ...
... 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 ...
In humans, it is encoded by the ALOX15 gene located on chromosome 17p13.3. This 11 kilobase pair gene consists of 14 exons and ... 1992) demonstrated that genes for 12-lipoxygenase and 15-lipoxygenase are located on human chromosome 17, whereas the most ... Consequently, human ALOX15 is now referred to as arachidonate-15-lipoxygenase-1, 15-lipoxygenase-1, 15-LOX-1, 15-LO-1, human 12 ... The distribution of Alox15 in sub-human primates and, in particular, rodents differs significantly from that of human ALOX15; ...
The cysteine pair (Cys28, Cys113) falls outside of the active site, and it is completely conserved in Grx2 proteins but not ... Glutaredoxin 2 (GLRX2) is an enzyme that in humans encoded by the GLRX2 gene. GLRX2, also known as GRX2, is a glutaredoxin ... and localized to chromosome 1q31.2-31.3. Alternative splicing of GLRX2 leads to three isoforms of Grx2. One isoform, Grx2a, ... Lönn ME, Hudemann C, Berndt C, Cherkasov V, Capani F, Holmgren A, Lillig CH (March 2008). "Expression pattern of human ...
In humans, lactoferrin gene LTF is located on the third chromosome in the locus 3q21-q23. In oxen, the coding sequence consists ... insertions and mutations of stop codons affect the coding part and its length varies between 2,055 and 2,190 nucleotide pairs. ... Human colostrum ("first milk") has the highest concentration, followed by human milk, then cow milk (150 mg/L). Lactoferrin is ... lactoferrin shows potent activity against both human immunodeficiency virus and human cytomegalovirus replication in vitro". J ...
"Identification of a second human subtilisin-like protease gene in the fes/fps region of chromosome 15". DNA and Cell Biology. ... "cDNA and gene structure for a human subtilisin-like protease with cleavage specificity for paired basic amino acid residues". ... Furin is an enzyme that in humans is encoded by the FURIN gene. Some proteins are inactive when they are first synthesized, and ... Furin is also known as PACE (Paired basic Amino acid Cleaving Enzyme). A member of family S8, furin is a subtilisin-like ...
The human USMG5 gene codes for a protein with a role in maintaining and regulating the ATP synthase population in the ... The USMG5 gene is located on the q arm of chromosome 10 at position 24.33 and it spans 7,463 base pairs. The USMG5 gene ... "USMG5 - Up-regulated during skeletal muscle growth protein 5 - Homo sapiens (Human) - USMG5 gene & protein". Retrieved 2018-08- ... Human Molecular Genetics. 27 (19): 3305-3312. doi:10.1093/hmg/ddy231. PMC 6140788. PMID 29917077. This article incorporates ...
The CHCHD10 gene is located on the q arm of chromosome 22 at position 11.23 and it spans 2,138 base pairs. The CHCHD10 gene ... Human) - CHCHD10 gene & protein". Retrieved 2018-08-07. This article incorporates text available under the CC BY 4.0 license. " ... also known as Protein N27C7-4 is a protein that in humans is encoded by the CHCHD10 gene. ... Retrieved 10 November 2015. Mick DU, Dennerlein S, Wiese H, Reinhold R, Pacheu-Grau D, Lorenzi I, Sasarman F, Weraarpachai W, ...
... s have 64 chromosomes. The horse genome was sequenced in 2007. It contains 2.7 billion DNA base pairs, which is larger ... Horses are not ruminants, they have only one stomach, like humans, but unlike humans, they can utilize cellulose, a major ... "Rare Twin Foals Born at Vet Hospital: Twin Birth Occurrences Number One in Ten Thousand". Communications Services, Oklahoma ... Humans: The Evolution of Human-Equine Relationships. Oxford, UK: Archaeopress. pp. 81-113. ISBN 978-1-84171-990-0. Epstein, H ...
The gene spans 142,366 base pairs and is located at the 10p12.2 locus on the minus (-) or sense strand of chromosome 10. It is ... "KIAA1217 KIAA1217 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. "C10orf67 chromosome 10 open reading frame 67 [ ... Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-04-30. "Homo sapiens chromosome 10 open reading ... Chromosome 10 open reading frame 67 (C10orf67), also known as C10orf115, LINC01552, and BA215C7.4, is an un-characterized human ...
It is located on the human chromosome 4 at 4q35.1. The function of the protein encoded by this gene is not well understood, but ... The total span of the gene, including 5' and 3' UTR, is 3149 base pairs. The gene is flanked on the left by NUDT13 (nudix ... Overall in the human body, this gene is expressed at levels slightly below the average human gene expression level. The protein ... A Systematic Exploration of the Human Interactome. Cell, 162(2), 425-440. doi:10.1016/j.cell.2015.06.043 "ABHD8_HUMAN". UniProt ...
GLUT 1 of humans and mice have 98% identity at the amino acid level. GLUT 1 is encoded by the SLC2 gene and is one of a family ... The SLC2A1 gene is located on the p arm of chromosome 1 in position 34.2 and has 10 exons spanning 33,802 base pairs. The gene ... "SLC2A1 - Solute carrier family 2, facilitated glucose transporter member 1 - Homo sapiens (Human) - SLC2A1 gene & protein". www ... where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. One good source of GLUT1 is ...
Human MGC50722 is located on the minus strand of chromosome 9 in the region q34 of the human genome (NCBI Gene ID: 399693). The ... The entire human gene is 40,364 base pairs in length, while the unprocessed mRNA is 25,960 base pairs long. After splicing of ... Nov 2013). "Proteogenomic Analysis of Human Chromosome 9-Encoded Genes from Human Samples and Lung Cancer Tissues". Journal of ... There are also 6 predicted isoforms found in human. PSORTII servers predict 5 nuclear localization signals in the human protein ...
"Identification of a second human subtilisin-like protease gene in the fes/fps region of chromosome 15". DNA and Cell Biology. ... "cDNA and gene structure for a human subtilisin-like protease with cleavage specificity for paired basic amino acid residues". ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. ... "Entrez Gene: FURIN furin (paired basic amino acid cleaving enzyme)".. *^ Roebroek AJ, Schalken JA, Leunissen JA, Onnekink C, ...
The gene for IL-24 is located on chromosome 1 in humans. The structure of IL-24 has been found through crystallization by ... The cDNA of IL-24 is 1,718 base pairs in length and encodes a protein of 206 amino acid with a predicted molecular size of ˜24 ... It is located on chromosome 1q32-33 in humans along with several other IL-10 cytokine family gene members. IL-24 encompasses ... In humans, this protein is encoded by the IL24 gene. IL-24 is a cytokine belonging to the IL-10 family of cytokines that ...
Chromosome 19 open reading frame 44 is a protein that in humans is encoded by the C19orf44 gene. C19orf44 is an uncharacterized ... The entire gene is 25,416 base pairs in length, and has an unprocessed mRNA that is 3,446 nucleotides in length. It contains 10 ... "C19orf44 chromosome 19 open reading frame 44 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-02-05 ... "Homo sapiens chromosome 19 open reading frame 44 (C19orf44), transcrip - Nucleotide - NCBI". www.ncbi.nlm.nih.gov. Retrieved ...
In humans, 90% of minisatellites are found at the sub-telomeric region of chromosomes. The human telomere sequence itself is a ... Minisatellites are prominent in the centromeres and telomeres of chromosomes, the latter protecting the chromosomes from damage ... which protect the ends of a chromosome from deterioration or from fusion with neighbouring chromosomes. Minisatellites have ... The first human minisatellite was discovered in 1980 by A.R. Wyman and R. White,. Discovering their high level of variability, ...
Total length of the gene is about 1400 base pairs (bp) including the promoter region, which partly overlaps with the PBX2 gene ... The primary transcript of the human RAGE gene (pre-mRNA) is thought to be alternatively spliced. So far about 6 isoforms ... The RAGE gene lies within the major histocompatibility complex (MHC class III region) on chromosome 6 and comprises 11 exons ... Human Advanced glycosylation end product-specific receptor) at the PDBe-KB. Overview of all the structural information ...
... a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3-related genes flanking the ... "Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers". Proceedings of the National ... Stromal antigen 3 is a protein that in humans is encoded by the STAG3 gene. STAG3 protein is a component of a cohesin complex ... STAG3 appears to participate in sister-chromatid cohesion throughout the meiotic process in human oocytes. A homozygous 1-bp ...
The mouse has approximately 2.7 billion base pairs and 20 chromosomes. They can also be manipulated in ways that are illegal ... Humans have eaten mice since prehistoric times and still eat them as a delicacy throughout eastern Zambia and northern Malawi, ... Mice are generally very docile if raised from birth and given sufficient human contact. However, certain strains have been ... Mice are no longer routinely consumed by humans elsewhere. However in Victorian Britain, fried mice were still given to ...
Paired immunoglobin like type 2 receptor alpha is a protein that in humans is encoded by the PILRA gene. Cell signaling ... These paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This ... crystallization and preliminary X-ray diffraction analysis of human paired Ig-like type 2 receptor alpha (PILRalpha)". Acta ... "Entrez Gene: Paired immunoglobin like type 2 receptor alpha". Retrieved 2017-01-10. Tabata S, Kuroki K, Maita N, Wang J, ...
... gene structure predicts for an independently expressed member of an ITIM/ITAM pair of molecules localized to human chromosome ... CD300A+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) CD300a, Bernholtz - The Possible ... Alvarez Y, Tang X, Coligan JE, Borrego F (2007). "The CD300a (IRp60) inhibitory receptor is rapidly up-regulated on human ... Overview of all the structural information available in the PDB for UniProt: Q9UGN4 (Human CMRF35-like molecule 8 (CD300A)) at ...
... structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16". Human Molecular Genetics ... The NDUFB10 gene is located on the p arm of chromosome 16 in position 13.3 and is 2,459 base pairs long. The NDUFB10 protein ... "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Research. 14 ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Mouse PubMed ...
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 ...
ENCODE: the complete analysis of the human genome. References[change , change source]. *↑ Hans Winkler, Professor of Botany at ... "I propose the expression genome for the haploid chromosome set, which, together with the pertinent protoplasm, specifies the ... Genome size (base pairs) Note Virus, Bacteriophage MS2 3569 First sequenced RNA-genome[4] ... However, no single haploid chromosome set defines even the DNA of a species. Because of the huge variety of alleles carried by ...
... is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6 (not to be ... 1 million base pairs centromeric from DQ2.5 may also be associated with Type 1 diabetes. In addition the BAT1 and MICB variant ... These unique chromosomes are produced by recombination of each unique chromosome passed by each grandparent to each parent. ... At 4.7 million nucleotides in length, A1::DQ2 is the second longest haplotype identified within the human genome.[1] A1::DQ2 ...
Because RPS6KA3 is located on the X chromosome, males (who possess only one copy of the X chromosome) display more severe ... "Coffin-Lowry syndrome". European Journal of Human Genetics 18, 627-633 (2010). doi:10.1038/ejhg.2009.189 ... In 2002, Helen Fryssira and RJ Simensen identified a 3 base pair deletion in the gene encoding RSK2, which was the first report ... The syndrome is caused by mutations in the RPS6KA3 gene.[1] This gene is located on the short arm of the X chromosome (Xp22.2 ...
By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... "American Journal of Human Genetics. 64 (1): 225-31. doi:10.1086/302198. PMC 1377721. PMID 9915962.. ... Van Den Berghe, Pierre L (2010). "Human inbreeding avoidance: Culture in nature". Behavioral and Brain Sciences. 6: 91-102. doi ... HumansEdit. See also: Incest, Incest taboo, Pedigree collapse, and Cousin marriage ...
... so each human chromosome can be identified by a characteristic color using whole-chromosome probe mixtures and a variety of ... Each probe for the detection of mRNA and lncRNA is composed of 20 oligonucleotide pairs, each pair covering a space of 40-50 bp ... The chromosomes can be seen in blue. The chromosome that is labeled with green and red spots (upper left) is the one where the ... Then, an interphase or metaphase chromosome preparation is produced. The chromosomes are firmly attached to a substrate, ...
Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the PSEN1 gene.[5] Presenilin-1 is one of the four ... Kang DE, Soriano S, Xia X, Eberhart CG, De Strooper B, Zheng H, Koo EH (September 2002). "Presenilin couples the paired ... "Genetic linkage evidence for a familial Alzheimer's seasesease locus on chromosome 14". Science. 258 (5082): 668-71. Bibcode: ... Tanahashi H, Tabira T (February 1999). "Isolation of human delta-catenin and its binding specificity with presenilin 1". ...
It has long been suspected as a causative agent in Crohn's disease in humans,[4][5] but studies have been unable to show ... Recent studies have shown that MAP present in milk can survive pasteurization, which has raised human health concerns due to ... It is the causative agent of Johne's disease, which affects ruminants such as cattle, and suspected causative agent in human ... Stage 1 human trials began in January 2017. He is also developing a companion MAP blood test. ...
Sigurdsson S, Van Komen S, Petukhova G, Sung P (Nov 2002). "Homologous DNA pairing by human recombination factors Rad51 and ... condensed chromosome. • nuclear chromosome, telomeric region. • nucleus. • nuclear chromatin. • lateral element. • cytosol. • ... nuclear chromosome. • mitochondrial matrix. • nucleolus. • mitochondrion. • perinuclear region of cytoplasm. • chromatin. • ... condensed nuclear chromosome. • macromolecular complex. Biological process. • regulation of protein phosphorylation. • strand ...
V. faba has a diploid (2n) chromosome number of 12 (six homologous pairs). Five pairs are acrocentric chromosomes and one pair ... It is of uncertain origin[1]:160 and widely cultivated as a crop for human consumption. It is also used as a cover crop, the ... In much of the English-speaking world, the name "broad bean" is used for the large-seeded cultivars grown for human food, while ... might frown on human consumption. But in Liguria, a maritime region near northern Italy, fava beans are loved raw, and consumed ...
... even though the fox genome has 16 pairs of metacentric autosomes and the dog has 37 pairs of acrocentric autosomes.[10] ... These were foxes that were eager to have human contact. By the 10th generation 18 percent of fox pups were in this "elite" ... Using 320 microsatellites Trut and co-workers showed that all 16 fox autosomes and one X chromosome were covered, and that ... 10][11][12] 400 canine microsatellites that are evenly distributed across the canine genome were analyzed in the fox genome. ...
... making up about one in ten of all the prokaryotes in the human gut.[197] In termites and in humans, these methanogens may in ... Archaea usually have a single circular chromosome,[129] with as many as 5,751,492 base pairs in Methanosarcina acetivorans,[130 ... 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. ...
Genetically, there are 74 diploid chromosomes (36 pairs). Appearance[edit]. The crab-eating fox is predominantly greyish-brown ... its habitat is slowly shrinking due to human activity such as agriculture, as well as feral dogs' encroachment on its territory ... The adult female gives birth to one or two litters per year, and the breeding pair is monogamous. The pair ranges the plains ... It either hunts individually or lives in pairs; it eats crabs, lizards and different flying animals. It is easy to domesticate ...
Likewise, gray wolf Y-chromosomes have also been found in a few individual male Texan coyotes.[11] This study suggested that ... By late 2012, it was estimated that there were at least 75 wolves and four breeding pairs living in the recovery areas, with 27 ... The Mexican wolf persisted longer in Mexico, as human settlement, ranching and predator removal came later than in the ... A pair of Mexican wolves with pups at Sevilleta Wolf Management Facility in Socorro, New Mexico ...
Ten 100g mini-'bǐngchá'. Twelve tǒng are referred to as being one jiàn (件), although some producers/factories vary how many ... 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 ...
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 ... 67 (10): 1089-1998. doi:10.1023/A:1020978825802. PMID 12460107.. *^ Palm D, Klein HW, Schinzel R, Buehner M, Helmreich, EJ ( ...
This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.. *v ... "Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for ... "AIDS Research and Human Retroviruses. 6 (3): 371-80. doi:10.1089/aid.1990.6.371. PMID 2187500.. ... Human GAA genome location and GAA gene details page in the UCSC Genome Browser. ...
HumansEdit. Humans are bilaterals and deuterostomes. In humans, the term embryo refers to the ball of dividing cells from the ... Pair-rule genes define 7 segments of the embryo within the confines of the second broad segment that was defined by the gap ... Thus, a fly whose chromosomes are mutant in both copies of the Bicoid gene but who is born from a mother carrying one normal ... As of today, human embryology is taught as a cornerstone subject in medical schools, as well as in biology and zoology programs ...
"MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice". ... A perda da función de him-14(MSH-4) reduce drasticamente o sobrecruzamento, o que ten como resultado a falta de quiasmas entre ... Yi W, Wu X, Lee TH, Doggett NA, Her C (Jul 2005). "Two variants of MutS homolog hMSH5: prevalence in humans and effects on ... Her C, Wu X, Griswold MD, Zhou F (Feb 2003). "Human MutS homologue MSH4 physically interacts with von Hippel-Lindau tumor ...
"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 ... However, the queen died of puerperal sepsis ten days later. Henry genuinely mourned her death, and at his own passing nine ...
... chromosome translocation in a human leukemia T-cell line indicates that putative regulatory regions are not altered". Proc. ... 3.2) Paired box. PAX (1, 2, 3, 4, 5, 6, 7, 8, 9) ... to the human c-myc oncogene; presence of a long inverted repeat ... Astrin SM, Laurence J (1992). "Human immunodeficiency virus activates c-myc and Epstein-Barr virus in human B lymphocytes". Ann ... HMGB (1, 2, 3) • HNF (1A, 1B) • LEF1 • SOX (1, 2, 3, 4, 5, 6, 8, 9, 10, 11, 12, 13, 14, 15, 18, 21) • SRY • SSRP1 • TCF (3, 4) ...
"Final report on the human rights situation of the Roma, Sinti and travellers in Europe". The European Commissioner for Human ... "Y CHROMOSOME SINGLE NUCLEOTIDE POLYMORPHISMS TYPING BY SNaPshot MINISEQUENCING" (PDF). Bjmg.edu.mk. Retrieved 20 December 2016. ... and he asked the king of India to send him ten thousand luris, lute-playing experts. When the luris arrived, Bahrām gave each ... and art present romanticized narratives of mystical powers of fortune telling or irascible or passionate temper paired with an ...
... including humans) or W chromosome rather than by the presence of two X chromosomes or two Z chromosomes.. basal body. An ... as a pair of nucleotide polymers bound together by complementary base pairing.. depolarization. The process of reversing the ... The scientific study of non-human animal behaviour (i.e. excluding human behaviour) and usually with a focus on behaviour under ... chromosome. A threadlike strand of DNA in the cell nucleus that carries the genes in a linear order.. cilia. circadian rhythm. ...
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 - ... Ten pyramidal structures were built of clay/mud. The first base section was 60 ft. in circumference and 3 ft. in height. The ... Igbo women were paired with Coromantee (Akan) men to subdue the men because of the belief that the women were bound to their ...
Linkage of Genetic Markers on Human Chromosomes 20 and 12 to NIDDM in Caucasian Sib Pairs With a History of Diabetic ... Linkage of Genetic Markers on Human Chromosomes 20 and 12 to NIDDM in Caucasian Sib Pairs With a History of Diabetic ... Linkage of Genetic Markers on Human Chromosomes 20 and 12 to NIDDM in Caucasian Sib Pairs With a History of Diabetic ... Linkage of Genetic Markers on Human Chromosomes 20 and 12 to NIDDM in Caucasian Sib Pairs With a History of Diabetic ...
Taking advantage of a proximal deletion of chromosome 10q (del 10q11.2-q21.2) in a patient with total colonic … ... Chromosome Mapping * Chromosomes, Human, Pair 10* * DNA, Satellite / genetics * Family * Female * Genetic Linkage ... A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10 Nat Genet. 1993 Aug;4(4):346-50. doi: 10.1038/ ... Taking advantage of a proximal deletion of chromosome 10q (del 10q11.2-q21.2) in a patient with total colonic aganglionosis, ...
Chromosomes, Human, Pair 12 / genetics * Chromosomes, Human, Pair 5 / genetics* * Diabetes Mellitus, Type 2 / complications ... Localization of a susceptibility gene for type 2 diabetes to chromosome 5q34-q35.2 Am J Hum Genet. 2003 Aug;73(2):323-35. doi: ... Linkage analysis conditioning on maternal transmission to the nonobese diabetics resulted in a LOD score of 3.48 (P=3.12 x 10(- ... A nonparametric multipoint linkage analysis yielded linkage to 5q34-q35.2 (LOD = 2.90, P=1.29 x 10(-4)) in all diabetics. Since ...
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 A chromosome is a structure that occurs within cells and that contains the cells genetic material. That genetic ... With 46 chromosomes, humans fall well within this average.. The 46 human chromosomes are arranged in 23 pairs. One pair of the ... Finally, a chromatid with ten or more coils is formed. Nonhistone proteins within chromosomes are also important. These ... chromosomes align in pairs. In a normal human karyotype, there are 22 pairs of autosomal chromosomes and two sex chromosomes (X ...
... or 46 chromosomes in total. Chromosomes are made up of long strands of DNA, which contain all the bodys genes. ... Humans typically have 23 pairs chromosomes, or 46 chromosomes in total. Chromosomes are made up of long strands of DNA, which ... U.S. National Library of Medicine 8600 Rockville Pike, Bethesda, MD 20894 U.S. Department of Health and Human Services National ...
... base pairs) and represents between 4 and 4.5 percent of the total DNA in cells. Learn about health implications of genetic ... Chromosome 10 spans more than 133 million DNA building blocks ( ... Ensembl Human Map View: Chromosome 10. *Gilbert F. Chromosome ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 10, 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 ...
... has recently been identified and found to be deleted in several different types of human tumours. In melanomas, the chromosomal ... a candidate tumour suppressor gene located on chromosome 10q25.3-q26.1, ... Chromosomes, Human, Pair 10*. DNA Primers. Genes, Tumor Suppressor*. Humans. Loss of Heterozygosity*. Melanocytes / metabolism ... Previous Document: Increased expression of dipeptidyl peptidase IV in human mesothelial cells by malignant ascites from.... ...
Humans have 23 pairs of chromosomes. This is chromosome 16, which carries between 850 and 1200 genes. Gene defects on this ... Each chromosome consists of two identical, parallel strands (chromatids, left and right), joined at an area called a centromere ... Chromosomes are a packaged form of the genetic material DNA (deoxyribonucleic acid), and form during cell replication. ... chromosome are related to diseases such as Crohns disease and thalassaemia, and may also contribute to obesity. Magnification ...
4. Homologous Pairs of Chromosomes ,ul,,li,In diploid body cells chromosomes occur in pairs ,/li,,/ul,,ul,,li,Humans have 23 ... Changes in Chromosome a. b. pair of homologous chromosomes 2n 2n 2n + 1 2n + 1 2n + 1 2n - 1 normal normal pair of homologous ... 5. Homologous Chromosomes a. sister chromatids homologous pair chromosome chromosome Nonsister chromatids duplication ... 7. Homologous Pairs of Chromosomes ,ul,,li,Homologous chromosomes have genes controlling the same trait at the same position ,/ ...
What is chromosome 9?. Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 9, one ... Chromosome 9 is made up of about 140 million DNA building blocks (base pairs) and represents approximately 4.5=(9) percent of ... They are losing their fear and inhibition of humans. Humans are losing their fear of each other, confrontational, violent, ... Everything that motivates and promotes human superiority is of value. At present, it perceives human factors of beauty, ...
Pair 23), scanning electron micrograph (SEM). There are 23 pairs of chromosomes in most normal human cells. ... Male Human Sex Chromosomes X and Y (Pair 23), scanning electron micrograph (SEM). There are 23 pairs of chromosomes in most ... normal human cells. These are allocated pairs 1 - 22 with pair 23 being the sex chromosomes, either xx for females and xy for ... Male Human Sex Chromosomes X and Y ( ... Male Human Sex Chromosomes X and Y SEM. C013/5127. Rights ...
Inside each cell are tens of thousands of such genes, grouped into 23 pairs of chromosomes. ... WHY ONLY THE L FORM You might wonder why the D form of protein would not work equally well in humans and animals. The problem ... Ten multiplied by itself 600 times gives the figure 1 followed by 600 zeros! This number is completely beyond our comprehension ... Inside the chromosomes are genes. The genes are attached to chromosomes like beads on a chain. Inside the genes is the ...
Humans have 46 chromosomes arranged into 23 pairs. Changes in either the total number of chromosomes or their shape and size ( ... Since the discovery of FMR1 and the expanding CGG repeats, scientists have identified more than ten other human genetic ... Humans have 46 chromosomes arranged into 23 pairs. Chromosomes contain the genetic information necessary to direct the ... The first 22 pairs of chromosomes are the same in males and females. The remaining two chromosomes are called the sex ...
Human beings normally have 46 chromosomes in 23 matching pairs. We inherit half of our chromosomes from our mothers, half from ... The ten year race to sequence the genome presented researchers with grand new challenges. ... Sequencing the human genome meant sifting through the three billion pairs of molecule pairs that make up our chromosomes to ... Along each chromosome chain, the adenine, thymine, cytosine, and guanine molecules are paired off, and unevenly arranged into ...
In humans, we have 23 pairs of chromosomes. Another example is maize which is also a diploid with 10 pairs of chromosomes. ... For diploid organisms such as humans and maize, each organism has two copies of a chromosome - one each from the two parents. ... However, with current technology, it is difficult to separate the two chromosomes within a pair and the assays produce the ... Variations in human genome have been long known to make us susceptible to many diseases. We are hurtling towards the era of ...
From Largest (chromosome pair 1) to smallest (chromosome pair 22). 23rd pair is the sex chromosomes ... Only one X chromosome is ever active in a human cell. The others are inactivated and form condensed structures around the ... Loss of one chromosome i.e. One chromosome pair exists as a single chromosome ... Region of chromosome deleted is internal to chromosome. Terminal - Region of chromosome deleted at the end of a chromosome ...
Inside each cell are tens of thousands of such genes, grouped into 23 pairs of chromosomes. ... Just for a moment, let us look beyond DNA and protein to a few of the more complicated organs in the human body. As we do so, ... the requirements which randomness would have to hurdle become truly fabulous. Consider the human brain, with its ten billion ... Inside the chromosomes are genes. The genes are attached to chromosomes like beads on a chain. Inside the genes is the ...
For humans, the complete genome contains about 20,000 genes on 23 pairs of chromosomes. ... In comparison, the first complete sequencing of a human genome, done by the Human Genome Project, cost about $3 billion when it ... "If we could have a big enough database of human genomes then you can see the interplay of genetics. That would change how we ... A nanometer is one one-billionth of a meter or about 100,000 times smaller than the width of a human hair. ...
Normal human cells contain 23 chromosome pairs-one in each pair inherited from the mother, and one from the father. Every human ... Humans have 46 chromosomes arranged into 23 pairs. Chromosomes contain the genetic information necessary to direct the ... Chromosome- Chromosomes are the strands of genetic material in a cell that occur in nearly identical pairs. ... Chromosome -A microscopic thread-like structure found within each cell of the human body and consisting of a complex of ...
7th International Congress of Human. Genetics, Part I.. 9. Jablonka E., and Lamb M.J. (1988) Meiotic pairing constraints and ... The peculiarities of mammalian sex chromosomes: an epigenetic view. Bioessays. 26(12): 1327-32.. 54. Jablonka E. (In Press) ... In: Human by Nature:. Between Biology and the Social Sciences (Eds: Weingart P., Mitchell S.D., Richerson P.J. and Maasen S.). ... In: Goren-Inbar, Naama, and John D. Speth (eds). (2004) Human Paleoecology in the Levantine Corridor. Oxford, England: Oxbow ...
... of mouse chromosome 13 showing conserved synteny with human chromosome 6p22.1-6p22.3/6p25. The human region is lost in some ... which is composed of two chromosomes of 4.07 megabase pairs and 3.17 megabase pairs, showing significant functional ... Chromosome 13 has one of the lowest gene densities (6.5 genes per Mb) among human chromosomes, and contains a central region of ... The Human and Vertebrate Annotation (HAVANA) group annotators at the Sanger center are using this to annotate human chromosomes ...
A chromosome consists of millions of base pairs, some of which are called genes. In humans, a single gene may be on average ... around 10 to 50 thousand base pairs long. [1] When a gene is expressed, a specific protein is produced. The first step in this ...
... 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 ...
Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 10: entries, gene ... The following is a partial list of genes on human chromosome 10. For complete list, see the link in the infobox on the right. ... The following are some of the gene count estimates of human chromosome 10. Because researchers use different approaches to ... Deloukas P, French L, Meitinger T, Moschonas NK (2000). "Report of the third international workshop on human chromosome 10 ...
A normal human cell contains 23 pairs of chromosomes. Patau Syndrome. Patau syndrome is a result of an extra chromosome in the ... each cell in the human body carries 23 pairs of chromosomes. At conception, when cells begin to divide, an extra chromosome may ... Trisomies can happen on any one of the human bodys 23 chromosomes, and are usually named by number according to the chromosome ... attach to a pair of chromosomes. This creates cells with 47 chromosomes rather than 46. The extra chromosome is usually ...
Humans have 23 pairs of chromosomes, and chimpanzees have 24 pairs. If humans are related to chimps, how can we account for ... When we look at human chromosome 2 it looks very similar to two shorter chimp chromosomes. Chromosome 2 even has two sets of ... and the swapping occurs between the wrong pairs of chromosomes. This can cause diseases and sometimes fuses whole chromosomes. ... This is the swapping of similar areas between pairs of chromosomes. This serves an evolutionary purpose in that it mixes up DNA ...
... similarity of DNA between chimp and humans is incorrect. ... Humans have 23 pairs of chromosomes while chimpanzees have 24. ... Although the number of substitutions is about ten times higher than the number of indels, the number of nucleotides involved in ... While 18 pairs of chromosomes are virtually identical, chromosomes 4, 9 and 12 show evidence of being remodeled.5 In other ... Evolutionary scientists believe that one of the human chromosomes has been formed through the fusion of two small chromosomes ...
Humans have 46 chromosomes come is 23 pairs. The protein helps keep the ... Each chromosome already contains two chromatids Homologous chromosomes pair up so that maternal and paternal chromo ... 10.1.1 Prophase 1 Chromosome become more visible because become shorter and coil up. ... Chapter 10: Studying Adaptation: Evolutionary Analysis of Form and Function - Scientists used black ink to fill in white ...
The AKT1 primer pair was 5′-ACGGGCACATTAAGATCACA-3′, 5′-TGCCGCAAAAGGTCTTCATG-3′. ... human chromosome fragment;. KO mouse,. knockout mouse;. HSA,. human serum albumin;. hu-mAbs,. human monoclonal antibodies;. ES ... In addition, hybridomas producing human IgG/κ antibodies against human proteins other than HSA, human tumor necrosis factor α ( ... They mounted an antigen-specific human antibody response upon immunization with human serum albumin, and human serum albumin- ...
  • The subtelomeric repeats can rescue chromosome ends when telomerase fails, buffer subtelomerically located genes against transcriptional silencing and protect the genome from deleterious rearrangements due to ectopic recombination. (wikipedia.org)
  • Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). (wikipedia.org)
  • In 1999, science celebrated one of its greatest achievements, when Craig Venter of Celera Genomics and Francis Collins, director of the National Human Genome Research Institute announced that they had independently completed rough drafts of the sequence of the human genome. (cnn.com)
  • Sequencing the human genome meant sifting through the three billion pairs of molecule pairs that make up our chromosomes to find the genes themselves. (cnn.com)
  • What we did with sequencing the human genome,' Venter says, 'is leading to a better understanding of what causes disease. (cnn.com)
  • The ten year race to sequence the genome presented researchers with grand new challenges. (cnn.com)
  • Such animals may be useful not only for studying in vivo functions of the human genome but also for obtaining various therapeutic products. (pnas.org)
  • In comparison, the first complete sequencing of a human genome, done by the Human Genome Project , cost about $3 billion when it was finally completed in 2003. (wired.com)
  • Stanford researcher Stephen Quake recently showed the Heliscope Single Molecule Sequencer that can sequence a human genome in about four weeks at a cost of $1 million. (wired.com)
  • For humans, the complete genome contains about 20,000 genes on 23 pairs of chromosomes. (wired.com)
  • A detailed analysis of the dog genome answers these questions and will also shed light on human health and biology, scientists said on Wednesday. (redorbit.com)
  • They also compared the dog genome to the already-completed maps of human genes, mice, rats and chimpanzees. (redorbit.com)
  • Elaine Ostrander, chief of cancer genetics at the National Human Genome Research Institute, said dog genetics could help narrow down the search for human disease genes. (redorbit.com)
  • According to UCSC Genome Browser on Human Feb. 2009 assembly (GRCh37/hg19), genes flanking CXCL12 on 10q11.21, in centromere to telomere direction, are ZNF32 (zinc finger protein 32), HNRNPA3P1 (heterogeneous nuclear ribonucleoprotein A3 pseudogene 1), CXCL12, THEM72 (transmembrane protein 72), RASSF4 (Ras association (RalGDS/AF-6) domain family member 4). (atlasgeneticsoncology.org)
  • 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)
  • of the human genome. (fishersci.com)
  • We know that the difference between prokaryotes and eukaryotes is in the DNA packaging and delivering system, where eukaryotes have developed a nuclear membrane to protect their genes and form condensed chromosomes to properly parcel the genome into the daughter cell, whereas prokaryotes do not have such a system," says corresponding author Kazuyoshi Murata. (phys.org)
  • The genome of the herpes virus ranges from 100 kb to 250 kb, far bigger than the 10 kb that a plasmid vector can hold and beyond even the 30 kb carrying capacity of a cosmid. (ubc.ca)
  • The Human Genome Project read the sequence of all the genes in humans - that's about 3 billion basepairs! (ubc.ca)
  • Using plasmid vectors, more than 1.8 billion clones are required to examine an entire human genome. (ubc.ca)
  • By using a vector that can hold larger pieces of DNA, the number of clones required to cover the human genome six times theoretically could drop from 1.8 billion to about 50 million. (ubc.ca)
  • Today, they make up about 5% of the human genome and have probably been a major driving force in the ape evolution. (discovermagazine.com)
  • The map showed that about a third of the duplications in the human genome are unique to us, and most of the remaining duplications are ones we share with chimps. (discovermagazine.com)
  • Mutations in the human genome cause crippling birth abnormalities and are the source of innumerable genetic diseases, from hemophilia and sickle cell anemia to congenital heart defects and cancer. (eurekalert.org)
  • Through the Human Genome Project, the HapMap Project and other efforts, we are beginning to identify genes that are modified in some diseases. (innovations-report.com)
  • Today, a team led by the Wellcome Trust Sanger Institute, together with colleagues in the USA and Switzerland, provide a measure of just how important regulatory region variation might be in a pilot study based on some 2% of the human genome. (innovations-report.com)
  • We were even more amazed at the number of genes affected: more than 10% of our sample - or perhaps 3000 genes across the genome - could be subject to modification of activity in human populations due to common genetic variations. (innovations-report.com)
  • The project focused on three regions of the human genome. (innovations-report.com)
  • The first, called the ENCODE regions, and about 30 million base-pairs of DNA, are being intensively studied around the world as a group of 'typical' human genome regions. (innovations-report.com)
  • In a separate project, an international consortium of researchers has sequenced the genome of the Anopheles gambiae mosquito*, which transmits the parasite to humans. (sanger.ac.uk)
  • The draft human genome was published by an international consortium in February 2001. (sanger.ac.uk)
  • The work was carried out in the UK at the Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, which also carried out one-third of the human genome sequencing programme , and in the USA at The Institute for Genomic Research and Stanford University . (sanger.ac.uk)
  • The Plasmodium falciparum genome, which consists of 24 million base pairs of DNA is divided into 14 chromosomes- compared to 23 in the human genome. (sanger.ac.uk)
  • The Institute for Genome Research (TIGR) sequenced 2, 10, 11 and 14 : Stanford sequenced chromosome 12. (sanger.ac.uk)
  • And 10 years into the project, the skeptics were still going strong - says, 'You're two-thirds through this project, and you've managed to only sequence a very tiny percentage of the whole genome. (ted.com)
  • The human IL-4 gene, which occurs as a single copy in the haploid genome, is mapped on chromosome 5. (jimmunol.org)
  • The base pairs length on pages such as the whole genome display (next to the golden path length ) is based on the assembled end position of the last seq_region in each chromosome (from the AGP file), or if there is a terminal gap it is set to the assembled end location of that terminal gap. (vectorbase.org)
  • So far about 2.4 million DNA sequence variants (single nucleotide polymorphisms or SNPs) have been discovered in the human genome, and millions more exist. (genome.gov)
  • In organisms such as viruses and eukaryotes in which recombination within chromosomes or genome segments occurs primarily via crossovers, these recombination fractions vary hugely among different pairs of loci. (genetics.org)
  • Less is known about viral recombination rates, but Neher and Leitner (2010) estimate that in human immunodeficiency virus (HIV) recombination rates among loci vary by a factor of ∼10 3 over the genome. (genetics.org)
  • The Human Genome Project (HGP) was an international scientific research project with a primary goal to determine the sequence of chemical base pairs which make up DNA and to identify and map the approximately 20,000-25,000 genes of the human genome from both a physical and functional standpoint. (thefullwiki.org)
  • While the objective of the Human Genome Project is to understand the genetic makeup of the human species, the project has also focused on several other nonhuman organisms such as E. coli , the fruit fly, and the laboratory mouse. (thefullwiki.org)
  • The Human Genome Project originally aimed to map the nucleotides contained in a haploid reference human genome (more than three billion). (thefullwiki.org)
  • Several groups have announced efforts to extend this to diploid human genomes including the International HapMap Project , Applied Biosystems , Perlegen, Illumina , JCVI , Personal Genome Project , and Roche-454 . (thefullwiki.org)
  • mapping "the human genome" involves sequencing multiple variations of each gene. (thefullwiki.org)
  • [ 3 ] This 1987 report stated boldly, "The ultimate goal of this initiative is to understand the human genome" and "knowledge of the human as necessary to the continuing progress of medicine and other health sciences as knowledge of human anatomy has been for the present state of medicine. (thefullwiki.org)
  • James D. Watson was head of the National Center for Human Genome Research at the National Institutes of Health (NIH) in the United States starting from 1988. (thefullwiki.org)
  • He was replaced by Francis Collins in April 1993, and the name of the Center was changed to the National Human Genome Research Institute (NHGRI) in 1997. (thefullwiki.org)
  • 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)
  • Researchers believe that the sequenced Fugu genome will offer great insights into understanding the human genome. (genomeweb.com)
  • The Fugu genome contains essentially the same genes and regulatory sequences as the human genome. (genomeweb.com)
  • However, the Fugu genome consists of approximately 400 million bases as compared to the 3 billion bases in humans. (genomeweb.com)
  • 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)
  • 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)
  • Despite genome duplication, zebrafish and humans have about the same number of chromosomes, and zebrafish chromosomes are mosaically orthologous to several human chromosomes. (zfin.org)
  • The exploration of the human genome has long been relegated to elite scientists in research laboratories. (nytimes.com)
  • The human genome contains some 3 billion chemical nucleotide bases. (bellaonline.com)
  • At the simplest level, DNA testing looks at a small number of locations in the human genome and counts these repeating patterns. (bellaonline.com)
  • Thousands of genes make up a chromosome and 46 of them, arranged in 23 pairs, define the entire human genome. (bellaonline.com)
  • For the first time, scientists are mapping the coast redwood's genome, a genetic code 12 times larger than that of a human being. (washingtonpost.com)
  • As the Cow genome is currently unfinished, the workflow subsequently maps the cow ensembl gene ids to human orthologues. (myexperiment.org)
  • Scientists working on the 10-year international Human Genome Project (HGP) have identified chromosomes which are believed to carry the highest concentration of disease genes.Out of 23 pairs of human chromosomes, 3 are believed to be associated with genetic disease. (bio-medicine.org)
  • The human genome may be the most remarkable entity that exists in this entire universe, not only for its complexity, but also its ability to provide a framework for the person each of us is today. (courierpress.com)
  • The terms chromosome and gene were used long before biologists really understood what these structures were. (encyclopedia.com)
  • The Watson and Crick discovery made it possible to express biological concepts (such as the gene) and structures (such as the chromosome) in concrete chemical terms. (encyclopedia.com)
  • It fuses part of a specific gene from chromosome 11 (the KMT2A gene) with part of another gene from chromosome 10 (the MLLT10 gene). (medlineplus.gov)
  • Gene defects on this chromosome are related to diseases such as Crohn's disease and thalassaemia, and may also contribute to obesity. (sciencephoto.com)
  • The following are some of the gene count estimates of human chromosome 10. (wikipedia.org)
  • So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (wikipedia.org)
  • Deleted in malignant brain tumours 1 (DMBT1), a candidate tumour suppressor gene located on chromosome 10q25.3-q26.1, has recently been identified and found to be deleted in several different types of human tumours. (biomedsearch.com)
  • Fragile X syndrome is caused by a mutation in the FMR-1 gene, located on the X chromosome . (encyclopedia.com)
  • This gene is located on the X chromosome. (encyclopedia.com)
  • Since the FMR-1 gene is located on the X chromosome, males are more likely to develop symptoms than females. (encyclopedia.com)
  • A female's normal X chromosome may compensate for her chromosome with the fragile X gene mutation. (encyclopedia.com)
  • But as the science has developed it has become possible to take a gene from one species and put it into an entirely different species in order to manipulate its characteristics and make it more useful to humans. (cnn.com)
  • Technical advances that enable larger stretches of human DNA to be introduced into mice allow not only for introduction of large genes or gene clusters but also correct expression of transgenes by inclusion of essential remote regulatory elements ( 1 ). (pnas.org)
  • 2010. Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content. (answers.com)
  • In humans, a single gene may be on average around 10 to 50 thousand base pairs long. (bartleby.com)
  • In humans, lactoferrin gene LTF is located on the third chromosome in the locus 3q21-q23. (wikipedia.org)
  • The CXCL12 gene consists of 4 exons spanning 14.94 kb on the chromosome 10 at band q11.21 (reverse strand) (Figure 1). (atlasgeneticsoncology.org)
  • The gene that encodes TCERG1L contains just over 219,000 bases and maps to human chromosome 10q26.3. (fishersci.com)
  • PvuII polymorphic site upstream to the human ApoCIII gene. (harvard.edu)
  • Human inhibitor of the first component of complement, C1: characterization of cDNA clones and localization of the gene to chromosome 11. (harvard.edu)
  • The nucleotide and derived amino acid sequence of human apolipoprotein A-IV mRNA and the close linkage of its gene to the genes of apolipoproteins A-I and C-III. (harvard.edu)
  • Normal human diploid cells placed in culture have a finite proliferative life-span and enter a nondividing state termed senescence, which is characterized by altered gene expression ( 1 , 2 ). (sciencemag.org)
  • The ATM gene is mutated in the human genetic disorder ataxia telangiectasia ( 58 ). (asm.org)
  • In comparison, the average size of a human gene is about 27 kb. (ubc.ca)
  • T24T is able to form colonies in soft agar, whereas T24 is not, and expresses HRAS, a gene associated with increased aggressiveness in human TCC, at higher levels than T24. (nih.gov)
  • Specific disruption of the TERB1-TERB2 or the TERB2-MAJIN interaction in the mouse Terb2 gene abolishes the telomere attachment to the NE and causes aberrant homologous pairing and disordered synapsis. (stanford.edu)
  • Currently, there are over 100,000 disease-associated mutations in the Human Gene Mutation Database (HGMD). (eurekalert.org)
  • Functional enrichment analysis highlighted 35 Gene Ontology categories with the top ranking pathways "ruffle membrane" (FDR = 1.81 × 10 -2 ) contributing to the formation of motile cell surface and "ATPase activity, coupled" (FDR = 2.88 × 10 -2 ), critical for the membrane transport. (frontiersin.org)
  • Further research aimed at gaining a greater understanding of this movement could lead to a breakthrough in the study of genetic diseases, human health and gene editing, according to the researchers. (rt.com)
  • Complete nucleotide sequence of the chromosomal gene for human IL-4 and its expression. (jimmunol.org)
  • We have isolated a chromosomal DNA segment of the human IL-4 gene based on homology with a human IL-4 cDNA sequence and determined its complete nucleotide sequence. (jimmunol.org)
  • Several patches of sequences are found in the 5'-flanking region of the human IL-4 gene which are homologous to sequence in the 5'-flanking regions of the IL-2, IL-3, IL-5, and granulocyte-macrophage (GM)-CSF genes. (jimmunol.org)
  • The IL-4 gene is inducible after treatment of human T cell clone by phorbol-12-myristate-13-acetate (TPA) and calcium ionophore A23187. (jimmunol.org)
  • The 2.3-kb 5'-flanking region of the human IL-4 gene transiently transfected into Jurkat human T cell leukemia cells is activated efficiently in response to TPA and A23187 stimulation and, although less efficiently, by human T cell leukemia virus type I-encoded p40x or BPV-encoded E2 protein. (jimmunol.org)
  • Try to remember it like this- a gene is composed of tiny chromosomes, each of which determines a particular characteristic in a human. (differencebetween.net)
  • The complex genetics of VWD involve a gene found on chromosome 12. (healthofchildren.com)
  • 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)
  • This gene is one of several genes encoding pulmonary-surfactant associated proteins (SFTPA) located on chromosome 10. (bio-rad.com)
  • The current version of the assembly displays only a single centromeric SFTPA gene pair rather than the two gene pairs shown in the previous assembly which were thought to have resulted from a duplication. (bio-rad.com)
  • A gene is a short length of a chromosome and the genes control the development of different characteristics. (getrevising.co.uk)
  • A gene is a specific section of the long double-stranded helix of human DNA that provides the instructions for a specific function. (bellaonline.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)
  • 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)
  • Acquisition of a gene that determines sex is the kiss of death for a chromosome, because other genes nearby on the Y evolve a male-specific function, and these genes are kept together by suppressing exchange with the X. (theconversation.com)
  • This gene, isolated from corn, allows chromosomes floating around in a cell's nucleus to recognize and pair with their homologs in preparation for the later steps that lead to cell division. (berkeley.edu)
  • It's clear that this gene plays a crucial role in the process, though we still don't understand what it does or how pairing happens. (berkeley.edu)
  • Mouse gene deletion studies, our own linkage findings on chromosome 10, and a recently published genetic association study by Domschke et al. (elsevier.com)
  • These findings provide little additional evidence for a susceptibility locus for panic disorder either within the CREM gene or in a nearby region of chromosome 10p11 in our sample. (elsevier.com)
  • In conclusion, we have identified a melanocyte-differentiation gene, C10orf11 , which when mutated causes autosomal-recessive albinism in humans. (zfin.org)
  • Cow-Human Ortholog Pathways and Gene annot. (myexperiment.org)
  • Just one gene on the Y chromosome, the SRY gene, is responsible for male anatomical traits. (courierpress.com)
  • Human Molecular Genetics. (wikipedia.org)
  • 10 - GENETICS Sex Linked 2.pdf - SexLinked"X"LinkedGenetics. (coursehero.com)
  • 2 Sex Linked / "X" Linked Genetics Sex/Gender chromosomes = chromosomes that determine the gender of an organism. (coursehero.com)
  • 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)
  • American Journal of Human Genetics 64: 1177-1185. (els.net)
  • American Journal of Human Genetics 44: 543-551. (els.net)
  • American Journal of Human Genetics 46: 229-241. (els.net)
  • American Journal of Human Genetics 52: 502-516. (els.net)
  • Annals of Human Genetics 42: 87-94. (els.net)
  • American Journal of Human Genetics 47: A204. (els.net)
  • American Journal of Human Genetics 57: 1221-1232. (els.net)
  • Human Genetics 109: 675-677. (els.net)
  • DNA dating: How molecular clocks are refining human evolution's timeline by Bridget Alex and Priya Moorjani, The Conversation , 7 April 2017. (isogg.org)
  • Date:10/13/2017). (bio-medicine.org)
  • This article was last modified on 10 July 2017. (labtestsonline.org.uk)
  • The Britten 9 study looked at 779 kilobase pairs to carefully examine differences between chimpanzees and humans. (answersingenesis.org)
  • Telomerase is active in germline cells and, in humans, telomeres in these cells are maintained at about 15 kilobase pairs (kbp). (sciencemag.org)
  • Plasmids that have been turned into vectors can hold about 10,000 nucleotide base pairs (bp) or 10 kilobase pairs (kb). (ubc.ca)
  • It is composed of four exons and three introns and is approximately 10 kilobase pairs in size. (jimmunol.org)
  • According to evolutionarybiologist Robert May, President of Britain's Royal Society, "Weshare half our genes with the banana" (2001), but genes only makeup 2% of human DNA - the answer depends on what proportion of theremaining 98% is the same. (answers.com)
  • Krawczak M (2001) ASP - a simulation‐based power calculator for genetic linkage studies of qualitative traits, using sib‐pairs. (els.net)
  • Deletions, insertions and mutations of stop codons affect the coding part and its length varies between 2,055 and 2,190 nucleotide pairs. (wikipedia.org)
  • In oxen, the coding sequence consists of 17 exons and has a length of about 34,500 nucleotide pairs. (wikipedia.org)
  • The researchers also compiled a catalog of 2.5 million single-nucleotide polymorphisms -- one-letter changes in the genetic code -- that differ among the 10 breeds of dogs studied. (redorbit.com)
  • Examples of binary mosaics of long nucleotide sequences are shown, including cases of human chromosomes and penicillins. (mdpi.com)
  • It is one of roughly 10 million tiny differences, known as single nucleotide polymorphisms, or SNPs (pronounced "snips") scattered across the 23 pairs of human chromosomes from which 23andMe takes its name. (nytimes.com)
  • Each chromosome consists of two identical, parallel strands (chromatids, left and right), joined at an area called a centromere (centre). (sciencephoto.com)
  • Are humans and chimpanzees 99 percent genetically identical? (answers.com)
  • Although 96% of the DNA is similar overall, there are some very significant differences in some chromosomes, where other chromosomes are nearly identical. (answers.com)
  • Specifically, 18 of the chromosomes of humans are nearly identical to those of chimpanzees, the rest are very different (eg: chromosomes 4, 9, 12, 21, and y). (answers.com)
  • While 18 pairs of chromosomes are 'virtually identical', chromosomes 4, 9 and 12 show evidence of being 'remodeled. (answersingenesis.org)
  • In males, it is X and Y while in female, the sex chromosomes are X and X which are identical to each other. (topperlearning.com)
  • Our proteins are virtually identical and our chromosomes have more or less the same structure. (discovermagazine.com)
  • Half a child's chromosomes have come from each parent so they resemble both parents but are identical to neither. (getrevising.co.uk)
  • The two chromosomes in a pair are never identical because they have different allele. (getrevising.co.uk)
  • Scientists report that the ancestor of today's human sex chromosomes evolved from an identical set long ago. (wired.com)
  • Scientists studying genes on the X and Y chromosomes have concluded that the biological element that determines sex in humans evolved from a pair of identical chromosomes hundreds of millions of years ago. (wired.com)
  • The process common to most organisms starts after the cell's chromosomes duplicate as if the cell were ready to divide into two identical daughter cells, a process called mitosis. (berkeley.edu)
  • Each cell of most living organisms, including humans and plants, contains two nearly identical sets of chromosomes, one set from the father and one from the mother," Pawlowski explained. (berkeley.edu)
  • Chromosome 1, the largest, has 249 million base pairs and constitutes about 8% of total DNA. (americanthinker.com)
  • Chromosome 10 has more than 133 million base pairs. (americanthinker.com)
  • Chromosome X -- all of us have one from our mothers - has 155 million base pairs and makes up about 5% of DNA in the body. (americanthinker.com)
  • Chromosome Y - which only males have - has around 59 million base pairs and is responsible largely for male sex differentiation. (americanthinker.com)
  • Our 30 trillion cells each hold DNA made from more than 3 million base pairs that contain around 30,000 genes that express us biologically. (americanthinker.com)
  • The third was a region of chromosome 20 - 10 million base-pairs - that is known to be associated with diabetes and obesity. (innovations-report.com)
  • Evolutionary scientists believe that one of the human chromosomes has been formed through the fusion of two small chromosomes in the chimp instead of an intrinsic difference resulting from a separate creation. (answersingenesis.org)
  • Scientists have prepared a human-chimpanzee comparative clone map of chromosome 21 in particular. (answersingenesis.org)
  • But most of us aren't scientists and may not have even a basic understanding of what DNA is or how it works, so here are 10 very basic yet helpful DNA facts for everyone. (dnacenter.com)
  • Scientists have mapped the movement of chromosomes inside our cells for the first time - a development that may have significant implications for the study of genetic diseases and human health, according to researchers. (rt.com)
  • The study, published in Nature , and carried out by scientists at the University of Texas at Austin, used computer modelling to create a mesmerizing depiction of how chromosomes move inside the human cell. (rt.com)
  • New findings by University of California, Berkeley, scientists show that the cell's cytoskeleton, which moves things around in the cell, plays a critical role, essentially reaching into the nucleus to bring chromosome pairs together in preparation for recombination and segregation. (healthcanal.com)
  • There were 165 attendees, including human geneticists, population geneticists, anthropologists, pharmaceutical and biotech industry scientists, social scientists, ethicists, representatives from various communities and disease groups, administrators from many NIH institutes and international funding agencies and journalists. (genome.gov)
  • Scientists have long believed that the events that led to the creation of sex chromosomes occurred about 170 million years ago. (wired.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)
  • This DNA recognition ability is the key to the process of chromosome pairing that has been eluding scientists for more than two decades. (berkeley.edu)
  • Disease chromosomes identified ( Scientists working on the 10-year inter. (bio-medicine.org)
  • The Cambridge scientists found that chromosome1 genes are associated with Alzheimer's and prostate ailments while chromosome 6 is linked to intelligence. (bio-medicine.org)
  • Hence, an organism with cells 2n=6 would be an organism that has only 6 chromosomes, or 3 pairs. (autismpluggedin.com)
  • In a diploid organism with 10 pairs of. (autismpluggedin.com)
  • Like a human being, Cannabis is a diploid organism: its chromosomes come in pairs. (herb.com)
  • Today we know that a chromosome contains a single molecule of DNA along with several kinds of proteins. (encyclopedia.com)
  • Chromosome 10 likely contains 700 to 800 genes that provide instructions for making proteins. (medlineplus.gov)
  • These chromosomes consist of genetic material (DNA) needed for the production of proteins, which lead to growth, development, and physical/intellectual characteristics. (encyclopedia.com)
  • During mitosis and meiosis, the condensed chromosomes are assembled through interactions between nucleosomes and other regulatory proteins. (wikipedia.org)
  • Proteins are coded for in DNA in sections of three base pairs in length (codons). (listverse.com)
  • Surprisingly, this multicopy family contained a unique proviral locus, located on chromosome 7, flanked by two intact LTRs, and which retained a 538-aa envelope ORF that exhibited all of the characteristic features of the precursor polypeptide of classical retroviral envelope proteins ( 1 , 3 ). (pnas.org)
  • It is present in the milk of humans and other mammals, in the blood plasma and neutrophils and is one of the major proteins of virtually all exocrine secretions of mammals, such as saliva, bile, tears and pancreas. (wikipedia.org)
  • To put it very simply, specific DNA sequences send messages to proteins with instructions on a task to perform, such as "make a human fingernail. (dnacenter.com)
  • Several protein-coding genes, including those that encode chemokines, cadherins, excision repair proteins, early growth response factors (Egrs) and fibroblast growth receptors (FGFRs), are located on chromosome 10. (fishersci.com)
  • Chromosome motion can be directly observed by microscopic imaging of worms expressing fluorescent fusion proteins. (healthcanal.com)
  • In early meiosis, the chromosomes attach by their pairing centers to proteins on the nuclear envelope, which are linked to the cytoskeleton of the cell. (healthcanal.com)
  • Proteins attach themselves to these stretches and coil them so that they form chromosomes. (differencebetween.net)
  • A chromosome is simply the product of the DNA and the proteins that are attached to it. (differencebetween.net)
  • DNA is the smallest part that, together with proteins, forms a chromosome. (differencebetween.net)
  • 3. When proteins add to DNA, a chromosome is formed. (differencebetween.net)
  • Each chromosome carries thousands of genes that act as instructions for the manufacture of proteins controlling everything that occurs in the body. (bio-medicine.org)
  • We molecularly characterized the human endogenous retrovirus W family (HERV-W) family ( 1 ) by screening a placental cDNA library with a polymerase (pol) probe derived from a retroviral sequence named multiple-sclerosis associated retrovirus (MSRV) ( 2 ) isolated from biological samples from multiple sclerosis patients. (pnas.org)
  • The sequence of chromosome 21 was a turning point for the understanding of Down syndrome. (sanger.ac.uk)
  • or whether the nucleic acid sequence of interest is localized in the chromosomes, nucleus, or cytoplasm of a cell. (google.com)
  • In tarot, the number 10 is highly significant, being the end of the pip sequence and indicating that 'the cycle has ended and a new one is beginning. (quackometer.net)
  • The second was 35million base-pairs of chromosome 21 sequence: three copies of chromosome 21 lead to Down Syndrome. (innovations-report.com)
  • But if you ask me, what will it cost for one MIPS of computing in 2010, or the cost to sequence a base pair of DNA in 2012, or the cost of sending a megabyte of data wirelessly in 2014, it turns out that those are very predictable. (ted.com)
  • 5'-Flanking regions of human and mouse IL-4 genes share about 85% homology extending more than 500 base pairs upstream of a "TATA" like sequence. (jimmunol.org)
  • [ 6 ] In May 2006, another milestone was passed on the way to completion of the project, when the sequence of the last chromosome was published in the journal Nature . (thefullwiki.org)
  • The addition of nucleotides is guided by the sequence of the original DNA strand according to the DNA pairing rules. (jove.com)
  • In contrast, the sequence of chemicals that defines each human being, namely our DNA, does not change, cannot be destroyed, and is never wrong. (bellaonline.com)
  • The four nucleotides present in DNA are adenine (A), guanine (G), cytosine (C), and thymine (T). G always pairs with C and A always pairs with T. It is the sequence of these pairs that provides the basis for counting repeating patterns. (bellaonline.com)
  • This is chromosome 16, which carries between 850 and 1200 genes. (sciencephoto.com)
  • When a man carries a premutation on his X chromosome, it tends to be stable and usually will not expand if he passes it on to his daughters (he passes his Y chromosome to his sons). (encyclopedia.com)
  • Normally, each cell in the human body carries 23 pairs of chromosomes. (wisegeek.com)
  • One pair of chromosomes carries the primary genes that determine sex. (herb.com)
  • hance, male and female progeny appear in equal numbers (in humans, the sperm carries either an X or a Y chromosome. (herb.com)
  • Each member of an autosome pair (in diploid organisms) is of similar length and in the genes it carries. (coursehero.com)
  • Human sperm bearing either an X or a Y chromosome stream toward a human egg, which carries an X chromosome. (eurekalert.org)
  • While eggs always carry an X chromosome, only about half of all sperm carry an X chromosome, while the other half carry a Y. Fusion of sperm and egg typically results in a female, when the fertilizing sperm carries an X chromosome, (producing an XX offspring) or a male, should the sperm carry a Y chromosome, (producing an XY offspring). (eurekalert.org)
  • In prokaryotes, or cells without a nucleus, the chromosome is merely a circle of DNA. (encyclopedia.com)
  • In eukaryotes, or cells with a distinct nucleus, chromosomes are much more complex in structure. (encyclopedia.com)
  • Inside that nucleus are, among other complicated things, chromosomes. (jesus-is-savior.com)
  • Chromosomes are located in the nucleus of each cell containing the DNA comprising genes. (autismpluggedin.com)
  • This simple model of a nucleus with only one pair of chromosomes illustrates the process of synapsis - the pairing of homologous chromosomes. (healthcanal.com)
  • The patches form a bridge between the chromosomes and the cytoskeleton outside the nucleus. (healthcanal.com)
  • A nucleus contains your genetic material and is arranged into chromosomes. (getrevising.co.uk)
  • Report of the third international workshop on human chromosome 10 mapping and sequencing 1999. (medlineplus.gov)
  • The mapping of human genes is an important step in the development of medicines and other aspects of health care. (thefullwiki.org)
  • By using homozygosity mapping of an inbred Faroese family, we identified a 3.5 Mb homozygous region (10q22.2-q22.3) on chromosome 10. (zfin.org)
  • Genes Chromosomes Cancer 27:252-263, 2000. (nih.gov)
  • Interestingly, the X chromosome has about 1,000 genes, roughly 10 times more than the Y chromosome. (courierpress.com)
  • Evidence for linkage to NIDDM was found with polymorphic loci that map to the long arms of human chromosomes 20 and 12 in regions containing the MODY1 and MODY3 genes. (diabetesjournals.org)
  • A maximum LOD score of 1.48 was calculated for linkage to MODYl-linked loci and 1.45 to MODY3-linked loci in Caucasian sib pairs. (diabetesjournals.org)
  • This also facilitates the generation of mice with "humanized" loci whose endogenous loci are functionally substituted for intact human equivalents in combination with targeted inactivation of endogenous loci, thereby providing valuable experimental animals for gaining insight into in vivo functions of human genes and for studying human genetic disorders ( 2 , 3 ). (pnas.org)
  • Particularly, much effort has been made by a number of groups to create mice with humanized Ig ( Ig ) loci for obtaining therapeutic human mAbs (hu-mAbs) monoclonal antibodies ( 4 , 5 ). (pnas.org)
  • Their studies established that transgenic mice carrying a portion of human IgH (14q32.33, ≈1.5 Mb) and Igκ (2q12, ≈2 Mb) loci in the endogenous Ig -knockout (KO) background were successfully used for the production of antigen-specific fully human antibodies. (pnas.org)
  • Although the introduction of entire human Ig loci into mice to reconstitute full diverse human antibody repertoires has been a next major challenge, this has never been achieved because the cloning of over megabase-sized DNA fragments encompassing whole human Ig loci remains difficult even with the use of yeast artificial chromosomes ( 1 , 5 ). (pnas.org)
  • Blackwelder WC and Elston RC (1985) A comparison of sib‐pair linkage tests for disease susceptibility loci. (els.net)
  • Barring abnormalities, genetic or environmental accidents, female humans are born with biological structures designed for maturing ova, gestating new humans, and nursing babies. (americanthinker.com)
  • Understanding chromosome pairing in plants will eventually lead to understanding the same process in humans, which will help in elucidating the causes of infertility and genetic diseases that result from abnormalities of meiosis, such as Down Syndrome," said principal author Wojtek P. Pawlowski, a postdoctoral fellow at UC Berkeley. (berkeley.edu)
  • Human chromosome 16, coloured scanning electron micrograph (SEM). (sciencephoto.com)
  • Male Human Sex Chromosomes X and Y (Pair 23), scanning electron micrograph (SEM). (sciencephoto.com)
  • Fragile X syndrome is inherited in an X-linked dominant manner (characters are transmitted by genes on the X chromosome). (encyclopedia.com)
  • Not all genes on the X chromosome are related to sex characteristics. (courierpress.com)
  • A chromosome is a structure that occurs within cells and that contains the cell's genetic material. (encyclopedia.com)
  • Chromosome 10 spans more than 133 million DNA building blocks (base pairs) and represents between 4 and 4.5 percent of the total DNA in cells. (medlineplus.gov)
  • The association of cancerous tumors with a loss of chromosome 10 suggests that some genes on this chromosome play critical roles in controlling the growth and division of cells. (medlineplus.gov)
  • Increased expression of dipeptidyl peptidase IV in human mesothelial cells by malignant ascites from. (biomedsearch.com)
  • There are 23 pairs of chromosomes in most normal human cells. (sciencephoto.com)
  • COILED STRIPS (*#3/33 The Origin of DNA*) Your own DNA is scattered all through your body in about 100 thousand billion specks , which is the average number of living cells in a human adult. (jesus-is-savior.com)
  • When the diploid cells are duplicated and condensed during mitosis , the result is about 120 micrometers of chromosomes . (wikipedia.org)
  • In the resultant double-Tc/double-knockout mice, substantial proportion of the somatic cells retained both hCFs, and the rescue in the defect of Ig production was shown by high level expression of human Ig heavy and κ chains in the absence of mouse heavy and κ chains. (pnas.org)
  • In our previous study ( 7 ), various hCFs were introduced into mouse embryonic stem (ES) cells via microcell-mediated chromosome transfer, and viable chimeric mice were produced from them. (pnas.org)
  • Indeed, stem cells seem to give the best chance for human tissue engineering, and particularly, mesenchymal stem cells (MSCs) represent a great tool in regenerative medicine because of their ability to differentiate into a variety of specialized cells in addition to their immuno-privileged characteristics [ 1 , 2 ]. (mdpi.com)
  • Such a hypothesis was supported by the observations that an anti-Env-W polyclonal antibody was able to inhibit heterologous fusion between a BeWo cell line and COS reporter cells ( 4 ) and that anti-ERVWE1 antisens oligonucleotides were able to inhibit primary human trophoblast cell fusion and differentiation ( 8 ). (pnas.org)
  • The family of genetic conditions known as "trisomies" happen when certain cells have three, rather then two, chromosomes . (wisegeek.com)
  • Trisomy is a genetic condition in which cells have an extra chromosome. (wisegeek.com)
  • At conception, when cells begin to divide, an extra chromosome may attach to a pair of chromosomes. (wisegeek.com)
  • This creates cells with 47 chromosomes rather than 46. (wisegeek.com)
  • In mosaic trisomies, only some cells contain the extra chromosome. (wisegeek.com)
  • People with partial trisomies have just part of the extra chromosome in their cells. (wisegeek.com)
  • The total number of chromosomes in diploid cells is described as 2n, which is twice the number of chromosomes in a haploid cell (n). (autismpluggedin.com)
  • a pair of each chromosome), twice the haploid (1n) number found in the sex cells, or gametes. (autismpluggedin.com)
  • Humans are diploid and have n=23 (23 different chromosomes), for 2n=46, except for gametes (sex cells) of course. (autismpluggedin.com)
  • Cells for which 2n=6 have 6 total chromosomes (3 paired) . (autismpluggedin.com)
  • In humans, gametes are haploid cells that contain 23 chromosomes, each of which a one of a chromosome pair that exists in diplod cells. (autismpluggedin.com)
  • Chromosomes are microscopic structures within the cells on which the genes are aligned. (herb.com)
  • Normal human cells undergo a finite number of cell divisions and ultimately enter a nondividing state called replicative senescence. (sciencemag.org)
  • To test this hypothesis, two telomerase-negative normal human cell types, retinal pigment epithelial cells and foreskin fibroblasts, were transfected with vectors encoding the human telomerase catalytic subunit. (sciencemag.org)
  • The ability to maintain normal human cells in a phenotypically youthful state could have important applications in research and medicine. (sciencemag.org)
  • We recently demonstrated that telomerase activity can be reconstituted by transient expression of hTRT in normal human diploid cells, which express low levels of the template RNA component of telomerase (hTR) but do not express hTRT ( 18 ). (sciencemag.org)
  • Gametes, the sperm and egg cells, each have 23 chromosomes. (americanthinker.com)
  • In some cells, the inactivated X chromosome will be the one from the father, in others the one from the mother. (americanthinker.com)
  • In addition, this study implicates ATR as a direct upstream activator of Chk1 in human cells. (asm.org)
  • Eukaryotic cells, including human cells, form paired condensed chromosomes before cell division. (phys.org)
  • The paired chromosomes are then equally divided into daughter cells. (phys.org)
  • The researchers show that the structure is similar to the condensed chromosomes in eukaryotic cells . (phys.org)
  • These new findings may deepen our understanding of how the eukaryotic cell arrived at a system using condensed chromosomes in the long evolution of biological cells. (phys.org)
  • Human cells contain 23 pairs of chromosomes. (coursehero.com)
  • The movement is very obvious in the cells on the right side of this frame, which are actively pairing and synapsing their chromosomes, while the motion has slowed in the later-stage cells to the left, which have completed pairing and synapsis. (healthcanal.com)
  • The whole goal of the cell at this developmental stage is to pair up homologous chromosomes, to reinforce that pairing through formation of the synaptonemal complex, to make crossovers between homologs, and then to separate the pairs into different daughter cells," said Dernburg, who is also a researcher at Lawrence Berkeley National Laboratory (LBNL) and a faculty affiliate of the California Institute for Quantitative Biosciences (QB3). (healthcanal.com)
  • The cells with only red staining have not yet entered meiosis, while the cells stained both red and green have begun or completed chromosome pairing and synapsis. (healthcanal.com)
  • The entire DNA in cells can be found in individual pieces that are called chromosomes. (differencebetween.net)
  • The sex cells are different from ordinary cells bcause they have only 23 chromosomes. (getrevising.co.uk)
  • When people produce sperm or egg cells their pairs of chromosomes separate and go into different cells. (getrevising.co.uk)
  • Trisomy 18 syndrome is a rare chromosomal disorder in which all or a critical region of chromosome 18 appears three times (trisomy) rather than twice in cells of the body. (rarediseases.org)
  • In some cases, the chromosomal abnormality may be present in only a percentage of cells, whereas other cells contain the normal chromosomal pair (mosaicism). (rarediseases.org)
  • Depending on the specific location of the duplicated (trisomic) portion of chromosome 18--as well as the percentage of cells containing the abnormality--symptoms and findings may be extremely variable from case to case. (rarediseases.org)
  • How the chromosomes in germ cells pair off, trade a few genes and split to give each gamete half a normal complement of genes is so complicated that researchers have had a hard time making sense of the mechanisms involved. (berkeley.edu)
  • The goal of meiosis is to produce gametes - sperm or egg cells - with half the normal number of chromosomes, so that they can fuse with a gamete of the opposite sex to produce a fertilized cell with a complete set of chromosomes. (berkeley.edu)
  • Immunohistochemistry showed localization of C10orf11 in melanoblasts and melanocytes in human fetal tissue, but no localization was seen in retinal pigment epithelial cells. (zfin.org)
  • In fact, the cytoskeleton appears to encourage the dance of the chromosomes around the nuclear membrane as they search for their partners, and help make sure they have the right partner before meiosis continues. (healthcanal.com)
  • Errors during meiosis lead to age-related human infertility, and to birth defects such as Down syndrome and Klinefelter syndrome," said Abby Dernburg, UC Berkeley associate professor of molecular and cell biology and a Howard Hughes Medical Institute investigator. (healthcanal.com)
  • Meiosis in corn has many similarities to the process in yeast, fruit flies, mice and humans, making this finding an important step in understanding meiosis in many organisms. (berkeley.edu)
  • In meiosis, however, these duplicated chromosomes don't split apart, but instead seek out and pair with their homologs, creating a structure consisting of four DNA double helices aligned side by side. (berkeley.edu)
  • During meiosis, each chromosome from one parent must find its equivalent, or homolog, that comes from the other parent and must physically pair with it. (berkeley.edu)
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
  • Researchers are working to identify the specific genes on chromosome 10 that may be involved in the development and progression of gliomas. (medlineplus.gov)
  • Writing in the science journal Nature, the researchers at 15 institutions described how they compared the genetic blueprint of the boxer with 10 other breeds. (redorbit.com)
  • Researchers working at the National Institute for Physiological Sciences (NIPS) and Saitama University have discovered that the photosynthetic cyanobacterium Synechococcus elongatus shows eukaryotic condensed chromosome-like DNA compaction prior to cell division , and were able to reveal details of the transiently formed structure. (phys.org)
  • These latest developments mean researchers now have a detailed insight into the DNA or "book of life" for humans, parasites and mosquitoes- the three components in the malaria cycle. (sanger.ac.uk)
  • The researchers accepted the polygenetic theory of human evolution, concluding that orangutans should be crossed with humans of the 'yellow race,' gorillas with humans of the 'black race,' chimpanzees with the 'white race,' and gibbons with 'the more brachycephalic peoples of Europe' (he probably meant Jews). (icr.org)
  • The UC Berkeley researchers found a mutation in corn that prevented the duplicated chromosomes from finding and pairing with their homologs. (berkeley.edu)
  • A SNP is a site in the DNA where different chromosomes differ in the base they have. (genome.gov)
  • Bacterial Artificial Chromosomes (BAC) have been developed to hold much larger pieces of DNA than a plasmid can. (ubc.ca)
  • Telomere: Used to maintain chromosomal integrity by capping off the ends of the linear chromosomes. (wikipedia.org)
  • Eukaryotic chromosome fine structure refers to the structure of sequences for eukaryotic chromosomes. (wikipedia.org)
  • Any cell with homologous chromosomes is said to be diploid. (autismpluggedin.com)
  • This involves the pairing, or synapsis, of homologous chromosomes in which the chromosome from the mother pairs with the analogous chromosome from the father. (healthcanal.com)
  • But the synaptonemal complex can form between non-homologous regions of the chromosomes, so pairing has to be coordinated with synapsis, and synapsis has to be regulated so it happens only between homologous chromosomes. (healthcanal.com)
  • After pairing, zipping (called synapsis) and recombination, the chromosome pairs are pulled apart, then the duplicated chromosomes are separated, and the cell splits into four gametes, each with only half the standard number of chromosomes. (berkeley.edu)
  • In the mutant, called phs1 (poor homologous synapsis 1), chromosomes paired up with the wrong partner and were zipped together. (berkeley.edu)
  • In a Perspectives piece in the same issue of Science, Enrique Martinez-Perez of Stanford University and Graham Moore of the John Innes Center in the United Kingdom noted that "the function of phs1 lies at the core of coordination between these two events (pairing and synapsis). (berkeley.edu)
  • Curiously, most cancers (mutations) and disease that plague us today are found on Chromosome 9. (godlikeproductions.com)
  • As the authors note, it is important for human health to determine the mechanisms underlying these mutations. (eurekalert.org)
  • Mutations occur very infrequently (think in terms of 10-20 generations). (bellaonline.com)
  • Our biological gender is determined at conception, depending on whether the sperm that fertilizes the egg contains an X or a Y chromosome. (americanthinker.com)
  • The sperm of a 20-year-old man has undergone roughly 160 chromosome replications, while that of a 40-year-old man has undergone roughly 610. (eurekalert.org)
  • Called the synaptonemal complex, this zipper seems necessary to allow the homologues to break and recombine, thereby exchanging a set of genes between Mom and Dad before sending the chromosomes into the world aboard egg or sperm. (healthcanal.com)
  • When the sperm fertilises the egg (sexual reproduction) the 23 chromosomes in the sperm combine with the 23 chromosomes in the egg. (getrevising.co.uk)
  • On the contrary, the Y chromosome is much smaller in size, and many of its genes have to do with other items besides physical sex characteristics, such as sperm production and health-related factors. (courierpress.com)
  • 10 -5 ) modulated the expression of ribosomal protein RPL9, transcription factor ZSCAN9 and aminopeptidase ERAP2. (frontiersin.org)
  • Here, chromosome attachment sites at the nuclear envelope are marked by green fluorescent protein (GFP), while the chromosomes themselves are labeled with a red fluorescent protein. (healthcanal.com)
  • Once the chromosomes come together, a protein called dynein assesses whether or not the chromosomes are homologous and, if yes, allows formation of a zipper-like synptonemal complex between the two. (healthcanal.com)
  • To stabilize the chromosome pairs, protein links form along the length of the homologs, like a zipper. (healthcanal.com)
  • After pairing, protein machines move in to zip them together. (berkeley.edu)
  • In addition, the constant region of the human IgH locus is known to contain sequences difficult to be cloned ( 6 ). (pnas.org)
  • In the case of a human chromosome 2 (hChr.2)-derived hCF [hCF(2-W23), ≈5-20 Mb] ( 8 ) containing the Igκ locus, it was found to be transmitted to the offspring through the germ line, demonstrating the establishment of a trans-chromosomic (Tc) mouse [Tc(W23)] expressing the human Ig κ light chain (hκ) ( 7 ). (pnas.org)
  • This is the case for the ERVWE1 locus of the human endogenous retrovirus W family (HERV-W), which encodes an envelope glycoprotein (syncytin) likely involved in trophoblast differentiation. (pnas.org)
  • This disorder maps to chromosome 7q11-21, and this locus was named CLAM. (elsevier.com)
  • Holmans P and Clayton D (1995) Efficiency of typing unaffected relatives in an affected‐sib‐pair linkage study with single‐locus and multiple tightly linked markers. (els.net)
  • If a tiger has 38 chromosomes in a diploid body cell, how many chromosomes are in a tiger's haploid egg cell? (autismpluggedin.com)
  • Are humans haploid or diploid? (autismpluggedin.com)
  • The number of chromosomes in a single set is represented as n, which is also called the haploid number. (autismpluggedin.com)
  • Thus when two random haploid genomes are compared, or all the paired chromosomes of one person are compared, there are about three million differences. (genome.gov)
  • Some sequences are required for a properly functioning chromosome: Centromere: Used during cell division as the attachment point for the spindle fibers. (wikipedia.org)
  • A complex rearrangement (translocation) of genetic material between chromosomes 10 and 11 is associated with several types of blood cancer known as leukemias. (medlineplus.gov)
  • Chromosomes are a packaged form of the genetic material DNA (deoxyribonucleic acid), and form during cell replication. (sciencephoto.com)
  • A single molecule of DNA within a chromosome may be as long as 8.5 centimeters (3.3 inches). (encyclopedia.com)
  • To fit within a chromosome, the DNA molecule has to be twisted and folded into a very complex shape. (encyclopedia.com)
  • The bacterial chromosome is a circular molecule of DNA that functions as a self-replicating genetic element (replicon). (nih.gov)
  • A chromosome is one very long molecule of DNA. (getrevising.co.uk)
  • Hahnemann studied medicine in Vienna (German, Wien W = 23rd letter of the alphabet) for 10 months. (quackometer.net)
  • The 23rd chromosome pair is the one that determines gender. (bellaonline.com)
  • Meanwhile, the 23rd pair is called allosomes, or sex chromosomes. (courierpress.com)
  • Allosomes determine sex in the human species, and all sex characteristics in males and females are initiated by genes on the 23rd chromosome pair. (courierpress.com)
  • Here, we report the crystal structures of human TERB1-TERB2 and TERB2-MAJIN subcomplexes. (stanford.edu)
  • Subject of Thesis: Alterations in Chromosomal Structure and Genic Activity in the Inactive X chromosome in Female Mammals. (tau.ac.il)
  • 6. Jablonka E. , Goitein R., Marcus M., and Cedar H. (1985) DNA hypomethylation causes an increase in DNase-I sensitivity and an advance in the time of replication of the entire inactive X chromosome. (tau.ac.il)
  • A chromosome consists of millions of base pairs, some of which are called genes. (bartleby.com)
  • This is exactly what has been observed across humans and other mammals. (eurekalert.org)
  • However, given that whales and humans are mammals, they would be expected to share many similarities. (answers.com)
  • We found they are still ordinary chromosomes even in monotreme mammals (platypuses and echidnas) which last shared a common ancestor with humans 166 million years ago. (theconversation.com)
  • The first 22 pairs of chromosomes are the same in males and females. (encyclopedia.com)
  • Of those pairs, 22 look the same for both males and females. (dnacenter.com)
  • Two copies of chromosome 10, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 10. (medlineplus.gov)
  • Many have been linked to human adaptations in the past, and while chimps share the same genes, Marques-Bonet's analysis showed that we have more copies than they do. (discovermagazine.com)
  • Standard curve generated using 20 million copies of template diluted 10 fold to 20 copies. (bio-rad.com)
  • Women have two copies of a medium-sized chromosome called X (which stands for "unknown" because it was originally a mystery). (theconversation.com)
  • 1 Autosomes = the chromosomes other than the sex chromosomes. (coursehero.com)
  • There are 22 pairs of autosomes and 2 sex chromosomes ("X" and "Y") in the nuclei. (coursehero.com)
  • 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)
  • They differ from autosomes in many ways, one of which is that for males, the pairs differ in size and shape. (courierpress.com)
  • Melissa Wilson Sayres, an evolutionary geneticist affiliated with Arizona State University's Biodesign Institute, studies rates of mutation in a range of organisms, including humans. (eurekalert.org)
  • Unlike certain basic organisms, humans, like many other animals, have a genetic system that defines sex in its own way, regardless of what our culture or society does. (courierpress.com)
  • Finally, in a process called recombination, genes get shuffled as the paired chromosomes break at a random spot along their arms and switch pieces. (berkeley.edu)
  • Translocations or inversions (breakage of a chromosome in two places) can also lead to extra or missing material from chromosome 10. (medlineplus.gov)
  • Recurrent chromosome translocations in liposarcoma. (harvard.edu)
  • It's that last chromosome that differentiates between the sexes. (dnacenter.com)
  • however, some smaller deletions occur within the arm of the chromosome. (medlineplus.gov)
  • Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a circular structure. (medlineplus.gov)
  • In humans it can be possible to see stripes (called Blaschko's lines) that occur when two colored cell types develop together. (listverse.com)
  • Full trisomies occur when every cell in the body has an extra chromosome. (wisegeek.com)
  • Trisomies can and do occur on any chromosome other then 21, 18, or 13, but they rarely result in live births. (wisegeek.com)
  • A mutation at the 16th chromosome, for instance, is thought to occur in about 1% percent of all pregnancies, but these pregnancies usually result in miscarriages during the first trimester due to severe defects in the fetus . (wisegeek.com)
  • They occur on both the Y chromosome and the mtDNA. (bellaonline.com)
  • Other sequences are used in replication or during interphase with the physical structure of the chromosome. (wikipedia.org)
  • Divergence between samples of chimpanzee and human DNA sequences is 5% counting indels. (answers.com)
  • Comparative genomics is beginning to identify the functional components of the chromosome and that in turn will set the stage for the functional characterization of the sequences. (sanger.ac.uk)
  • There are differences in amino acid sequences: 8 in Homo sapiens, 6 in Mus musculus, 6 in Capra hircus, 10 in Bos taurus and 20 in Sus scrofa. (wikipedia.org)
  • At the end of each chromosome is a string of repeating DNA sequences called a telomere. (answersingenesis.org)
  • Genomic contigs may be assembled into longer sequences called scaffolds and sometimes, if the depth of sequencing is high enough, there may be enough information to assemble most of the scaffolds into chromosomes. (vectorbase.org)
  • Humans and chimpanzees share 96% of their genes ! (dnacenter.com)
  • What percentage of DNA do humans and chimpanzees share? (answers.com)
  • Humans typically have 23 pairs chromosomes, or 46 chromosomes in total. (medlineplus.gov)
  • In animals, genes encoding canonical histones are typically clustered along the chromosome, lack introns and use a stem loop structure at the 3' end instead of a polyA tail. (wikipedia.org)
  • Trisomies are typically numbered according to the location of the extra chromosome in relation to the 23 present in the chain. (wisegeek.com)
  • Typically, human beings have 23 pairs of chromosomes in each cell. (dnacenter.com)
  • Although columns of this type typically remove DNA fragments greater than around 10 kb, the vast majority of strands produced by bead beating with the OmniLyse fall below this size limit and are retained in the eluate. (nanoporetech.com)
  • The most common mutation affects the 21st chromosome, and is usually diagnosed as Down syndrome. (wisegeek.com)
  • Trisomy 21 , also called Down syndrome, is the most common mutation and happens when there are three chromosomes in the 21st location. (wisegeek.com)
  • Most of the time, modern ultrasound technology and prenatal screening can detect likely cases of chromosome mutation well before delivery. (wisegeek.com)
  • "It would be very interesting to see if the chromosomes in a cancer cell, where there is some mutation, if the movement is different," Thirumalai said . (rt.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)