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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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 ...
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 ...
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.
Facioscapulohumeral muscular dystrophy (FSHD) is an enigmatic disease associated with epigenetic alterations in the subtelomeric heterochromatin of the D4Z4 macrosatellite repeat. Each repeat unit encodes DUX4, a gene that is normally silent in most tissues. Besides muscular loss, most patients suff …
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 ...
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 ...
If you would like to schedule an appointment with one of our nationally ranked specialists or Primary Care physicians please click or call 800-881-7385.. ...
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 ...
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 ...
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.. ...
On the positive strand of human chromosome ten, located next to the 5' end of ANKRD26 is MASTL, microtubule associated serine/ ... It has 6816 base pairs in the reference sequence mRNA transcript. LOC100289548 (PUTAETIVE UNCHARACTERIZED PROTEIN C10ORF52-LIKE ... 2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375-81. doi:10.1038/nature02462 ... Human ANKRD26 genome location and ANKRD26 gene details page in the UCSC Genome Browser. Olsen JV, Blagoev B, Gnad F, et al. ( ...
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". "C10orf67 chromosome 10 open reading frame 67 [ ... Homo sapiens (human)] - Gene - NCBI". 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 ...
In humans, FAM166B has 10 transcript variants, which are all spliced. FAM166B transcript variant 1 is 1,092 bp in length and ... The FAM166B gene is located on the short arm of chromosome 9 at 9p13.3 on the minus strand. The genomic sequence spans 2,069 ... base pairs from 35563899 to 35561830. Gene neighbors are RUSC2, RPS29P17, and TESK1. FAM166B is expressed 0.5 times higher than ... It is known to have a higher than normal proline composition compared to other human proteins at 12.4%. The protein has a ...
The most distant ortholog of the human PROSER2 is the elephant shark, Callorhinchus milii. The most distant relatives of humans ... PROSER2, or c10orf47 (Chromosome 10 open reading frame 47), is found in band 14 of the short arm of chromosome 10 (10p14) and ... This gene is 48,880 bases in length and is 3,360 base pairs in length after transcription to mRNA. PROSER2 has 5 splice ... In humans, PROSER2 is most highly expressed in the bone marrow, fetal brain, fetal kidney, liver, fetal liver, lung, fetal lung ...
Gaining a single chromosome, in which the daughter cell(s) with the defect will have one chromosome in addition to its pairs is ... Down syndrome, a trisomy of chromosome 21, is the most common anomaly of chromosome number in humans. The majority of cases ... Uniparental disomy denotes the situation where both chromosomes of a chromosome pair are inherited from the same parent and are ... or if the normal number of chromosomes is restored via duplication of the single monosomic chromosome ("chromosome rescue"). ...
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 ...
The BTD gene is located on the short (p) arm of chromosome 3 at position 25, from base pair 15,618,326 to base pair 15,662,328 ... The human body cannot produce biotin, but it can obtain it from the diet, internal recycling and at some extent from intestinal ... Biotinidase (EC, amidohydrolase biotinidase, BTD) is an enzyme that in humans is encoded by the BTD gene. The enzyme ... Human Mutation. 31 (9): 983-91. doi:10.1002/humu.21303. PMID 20556795. S2CID 26622938. Dobrowolski SF, Angeletti J, Banas RA, ...
... 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, 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 ...
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 ...
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 ...
... is the pairing of two chromosomes that occurs during meiosis. It allows matching-up of homologous pairs prior to their ... ATR, BRCA1 and gammaH2AX localize to unsynapsed chromosomes at the pachytene stage of meiosis in human oocytes and this may ... Mitosis also has prophase, but does not ordinarily do pairing of two homologous chromosomes. When the non-sister chromatids ... McKee B (2004). "Homologous pairing and chromosome dynamics in meiosis and mitosis". Biochim Biophys Acta. 1677 (1-3): 165-80. ...
"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, ...
"Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector ... Cosmid End-sequence profiling Fosmid Human artificial chromosome Yeast artificial chromosome O'Connor M, Peifer M, Bender W ( ... BACs can also be utilized to detect genes or large sequences of interest and then used to map them onto the human chromosome ... "Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the ...
It is often used to infer distance along a chromosome. However, it is not a true physical distance. The number of base pairs to ... ISBN 0-7167-4366-3. humans 1 centimorgan on average represents a distance of about 7.5x10E5 base pairs Kong, A (10 June ... One centimorgan corresponds to about 1 million base pairs in humans on average. The relationship is only rough, as the physical ... It is suggested that the unit of distance in a chromosome as defined above be termed a "morgan," on the analogy of the ohm, ...
The pair continued working on inherited human diseases. They found the genes for an inherited form of childhood progressive ... a method that uses high-energy x-rays to fragment human chromosomes that were recovered in somatic cell hybrids and then used ... The Stanford group generated genome-wide maps as well as finishing of sequences of three human chromosomes, and their ... Myers recalls a conference attendee saying, "The rate is so low that we would have to sequence the entire human genome to know ...
... of the human genome in five human cell lines". Genome Research. 17 (6): 691-707. doi:10.1101/gr.5704207. PMC 1891331. PMID ... The extent of chromatin with phosphorylated γH2AX is about two million base pairs at the site of a DNA double-strand break. ... Loss of heterozygosity in coding region of p300 (chromosome 22q13) is present in large number of glioblastomas. Further, HATs ... "Frequent BRG1/SMARCA4-inactivating mutations in human lung cancer cell lines". Human Mutation. 29 (5): 617-22. doi:10.1002/humu ...
The Human Splicing Finder is an online database stemming from the Human Genome Project data. The genome database identifies ... An intronic single base-pair substitution destroys an acceptor site, thus activating a cryptic splice site, leading to a 59 ... "Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families". Nature Genetics. ... a potential stem-loop structure which is most likely involved in regulating the alternative splicing of exon10 in chromosome 17 ...
... 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, ...
Its genome consists of two circular chromosomes, one 2.65 million base pairs long and the other 412,000 base pairs long, as ... Some lines of investigation are focused on the application of D. radiodurans antioxidant systems in human cells to prevent ROS ... They translated the song "It's a Small World" into a series of DNA segments 150 base pairs long, inserted these into the ... It usually repairs breaks in its chromosomes within 12-24 hours by a 2-step process. First, D. radiodurans reconnects some ...
Human Y chromosome[edit]. In humans, the Y chromosome spans about 58 million base pairs (the building blocks of DNA) and ... 2004). "In the platypus a meiotic chain of ten sex chromosomes shares genes with the bird Z and mammal X chromosomes". Nature. ... Stevens proposed that chromosomes always existed in pairs and that the Y chromosome was the pair of the X chromosome discovered ... Human Y-chromosome DNA haplogroup. The human Y chromosome is normally unable to recombine with the X chromosome, except for ...
According to Maya mythology, the Plumed Serpent gave cacao to the Maya after humans were created from maize by divine ... and it is proposed as an evolutionary mechanism by which the 21 chromosomes of the dicots' hypothetical hexaploid ancestor ... in the Neotropics Reflect Genetic Differentiation in Pleistocene Refugia Followed by Human-Influenced Dispersal". PLoS ONE. 7 ( ... compared to the roughly 23,000 protein-coding genes of the human genome. About 20% of the cacao genome consists of transposable ...
The loss of chromosome Y (LOY) in blood cells is the most common human post zygotic mutation. It is highly associated with age ... These analogs do not have the same pairing properties of normal bases, therefore they can pair incorrectly with nucleotides ... Post- zygotic changes to a genome can be caused by small mutations that affect a single base pair, or large mutations that ... When an alkyl group is added to guanine, it can lead to the incorrect pairing with thymine and disrupt the accuracy of ...
Human mtDNA consists of 16,569 nucleotide pairs. The entire molecule is regulated by only one regulatory region which contains ... Despite the fact that the loci for some of these mutations have been found on human chromosomes, specific genes and proteins ... the number of mtDNA molecules in the mitochondria varies from around two to ten. It is possible, even in twin births, for one ... Human mitochondrial genetics is the study of the genetics of human mitochondrial DNA (the DNA contained in human mitochondria ...
PAR1 comprises 2.6 Mbp of the short-arm tips of both X and Y chromosomes in humans and great apes (X and Y are 155 Mbp and 59 ... Pairing (synapsis) of the X and Y chromosomes and crossing over (recombination) between their pseudoautosomal regions appear to ... The function of these pseudoautosomal regions is that they allow the X and Y chromosomes to pair and properly segregate during ... between the pseudoautosomal regions of the X and Y chromosomes can disrupt pairing and recombination, and consequently cause ...
For the human species, whose genome includes 22 pairs of autosomes and 2 sex chromosomes, a complete genome sequence will ... see Human genome project Humans, Homo sapiens; see The Human Genome Project-Write Palaeo-Eskimo, an ancient-human Neanderthal, ... For humans, this will allow us to better understand aspects of human genetic diversity. Many organisms have genome projects ... "Potential Benefits of Human Genome Project Research". Department of Energy, Human Genome Project Information. 2009-10-09. ...
... and occurs when an individual either is missing a chromosome from a pair (monosomy) or has more than two chromosomes of a pair ... Known disorders in humans include Wolf-Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome ... It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes. Chromosome mutation ... An example of trisomy in humans is Down syndrome, which is a developmental disorder caused by an extra copy of chromosome 21; ...
Karyotype of a human being, showing 22 pair of autosomal chromosomes and both the XX female and the XY male possibilities for ... Ten sex chromosomes. Males have X1Y1X2Y2X3Y3X4Y4X5Y5, females have X1X1X2X2X3X3X4X4X5X5.[77] [78] ... As other non-human extant hominidae have 48 chromosomes it is believed that the human chromosome 2 is the end result of the ... chromosomes. Males have XY sex chromosomes and females have XX sex chromosomes. The sex chromosomes are the largest chromosomes ...
... on human chromosome 6 has paralogy regions on chromosomes 1, 9 and 19. Much of the human genome seems to be assignable to ... In allopolyploids, the homologous chromosomes within each parental sub-genome should pair faithfully during meiosis, leading to ... Well-studied sets of paralogy regions include regions of human chromosome 2, 7, 12 and 17 containing Hox gene clusters, ... Homoeologous (also spelled homeologous) chromosomes or parts of chromosomes are those brought together following inter-species ...
For example, in the human genome, which has a 42% GC content[3], a pair of nucleotides consisting of cytosine followed by ... Based on an extensive search on the complete sequences of human chromosomes 21 and 22, DNA regions greater than 500 bp were ... "Comprehensive analysis of CpG islands in human chromosomes 21 and 22". Proc Natl Acad Sci USA. 99 (6): 3740-5. doi:10.1073/pnas ... In humans, about 70% of promoters located near the transcription start site of a gene (proximal promoters) contain a CpG island ...
This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.. *v ... "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... Homeobox protein Hox-D8 is a protein that in humans is encoded by the HOXD8 gene.[5][6][7] ... Goodman FR (2003). "Limb malformations and the human HOX genes". Am. J. Med. Genet. 112 (3): 256-65. doi:10.1002/ajmg.10776. ...
They are usually found in pairs (diplococci) and do not form spores and are nonmotile.[2] As a significant human pathogenic ... For a bacterium to bind, take up, and recombine exogenous DNA into its chromosome, it must enter a special physiological state ... The genome of S. pneumoniae is a closed, circular DNA structure that contains between 2.0 and 2.1 million base pairs depending ... pneumoniae can be found in the human upper respiratory system. A study of competition in vitro revealed S. pneumoniae ...
When adenine is deaminated, it becomes hypoxanthine, which can pair with cytosine. During replication, the cytosine will pair ... It further contends that only a minority of the genetic material is kept in circular chromosomes while the rest is in branched ... but not human mtDNA).[21] ... Hypoxanthine can bind to cytosine, and when the XC base pair is ... Chloroplast DNAs are circular, and are typically 120,000-170,000 base pairs long.[4][7][8] They can have a contour length of ...
Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene.[5] ... Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... Poleev A, Fickenscher H, Mundlos S, Winterpacht A, Zabel B, Fidler A, Gruss P, Plachov D (November 1992). "PAX8, a human paired ... Members of this gene family typically encode proteins which contain a paired box domain, an octapeptide, and a paired-type ...
... is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6 (not to be ... 1 million base pairs centromeric from DQ2.5 may also be associated with Type 1 diabetes. In addition the BAT1 and MICB variant ... These unique chromosomes are produced by recombination of each unique chromosome passed by each grandparent to each parent. ... At 4.7 million nucleotides in length, A1::DQ2 is the second longest haplotype identified within the human genome.[1] A1::DQ2 ...
By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... "American Journal of Human Genetics. 64 (1): 225-31. doi:10.1086/302198. PMC 1377721. PMID 9915962.. ... Van Den Berghe, Pierre L (2010). "Human inbreeding avoidance: Culture in nature". Behavioral and Brain Sciences. 6: 91-102. doi ... HumansEdit. See also: Incest, Incest taboo, Pedigree collapse, and Cousin marriage ...
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 ... ... 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). 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 ...
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 ...
... a minimal reference phylogeny for the human Y chromosome". Human Mutation. 35 (2): 187-91. doi:10.1002/humu.22468. PMID ... Position (base pair): 180. Total size (base pairs): 366. Forward 5′→ 3′: aactcttgataaaccgtgctg. Reverse 5′→ 3′: ... and was prominent in the Five Dynasties and Ten Kingdoms period of China, building three dynasties. His two queens were all ... a b c The Y Chromosome Consortium 2008 *^ a b c d e f g Cristofaro; et al. (2013). "Afghan Hindu Kush: Where Eurasian Sub- ...
"The Y Chromosome Pool of Jews as Part of the Genetic Landscape of the Middle East". The American Journal of Human Genetics. 69 ... The Ten Lost Tribes: A World History (Zvi Ben-Dor Benite, Oxford University Press 2009) pp. 17-18"the dispersal of the Jews, ... that overlies Druze and Cypriot samples but not samples from other Levantine populations or paired Diaspora host populations. ... "American Journal of Human Genetics. 86 (6): 850-9. doi:10.1016/j.ajhg.2010.04.015. PMC 3032072. PMID 20560205.. ...
The genotype of the male consists of a Y chromosome paired with an X chromosome. Female gender is determined by the absence of ... Redirected from Human male reproductive system). This article is about the reproductive system in human males. For the male ... This occurs when one X chromosome contains a segment of the Y chromosome, which was inserted into the X chromosome of the ... If this sperm cell contains an X chromosome it will coincide with the X chromosome of the ovum and a female child will develop ...
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, ...
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification. ... Human, Pair 3" by people in Harvard Catalyst Profiles by year, and whether "Chromosomes, Human, Pair 3" was a major or minor ... "Chromosomes, Human, Pair 3" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 3" by people in Profiles. ...
Chromosomes, Human, Pair 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 ...
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 ...
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 ...
On the positive strand of human chromosome ten, located next to the 5 end of ANKRD26 is MASTL, microtubule associated serine/ ... It has 6816 base pairs in the reference sequence mRNA transcript. LOC100289548 (PUTAETIVE UNCHARACTERIZED PROTEIN C10ORF52-LIKE ... 2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375-81. doi:10.1038/nature02462 ... Human ANKRD26 genome location and ANKRD26 gene details page in the UCSC Genome Browser. Olsen JV, Blagoev B, Gnad F, et al. ( ...
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". "C10orf67 chromosome 10 open reading frame 67 [ ... Homo sapiens (human)] - Gene - NCBI". 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 ...
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 ...
... 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.... ...
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 ,/ ...
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 ...
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- ...
b) Evaluation of the U6198-L6186 primer pair on DNA extracted from human-rodent monochromosomal cell lines. M, molecular mass; ... human chromosomes; c-, negative control; m, mouse DNA; ha, hamster DNA; the arrow indicates the 10-kb amplification product. (c ... Conservation of the ERVWE1 locus in the human population. (a) Schematic representation of the human ERVWE1 locus including ... Other cell lines were as follows: LC5, human lung fibroblasts; HeLa, human epithelioid carcinoma cells (ATCC CCL2); TELCeB6 ...
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 ...
... 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 ...
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 ...
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 ...
The normal human karyotype contains 22 pairs of autosomal chromosomes and one pair of sex chromosomes. Normal karyotypes for ... The chromosomes are depicted (by rearranging a microphotograph) in a standard format known as a karyogram: in pairs, ordered by ... Chromosome Stability. Chromosome stability of cell cultures has been detected by means of the karyotipe analyses. The karyotype ... Characterization of human adult stem-cell populations isolated from visceral and subcutaneous adipose tissue. FASEB J 2009, 23 ...
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 ...
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 ...
... or whether the nucleic acid sequence of interest is localized in the chromosomes, nucleus, or cytoplasm of a cell. The methods ... Genes on homologous chromosomes are not closely paired. Because the neu oncogene is more centrally localized at interphase than ... virus in infected human lymphocytes and empirically detected the presence of human muscular dystrophy DNA in human cells taken ... Slides stored in 70% alcohol are rehydrated in a ten minute PBS, 5 mM MgCl bath then ten minutes in 0.1 M Tris--0.2 M glycine, ...
Human Y chromosome[edit]. In humans, the Y chromosome spans about 58 million base pairs (the building blocks of DNA) and ... 2004). "In the platypus a meiotic chain of ten sex chromosomes shares genes with the bird Z and mammal X chromosomes". Nature. ... Stevens proposed that chromosomes always existed in pairs and that the Y chromosome was the pair of the X chromosome discovered ... Human Y-chromosome DNA haplogroup. The human Y chromosome is normally unable to recombine with the X chromosome, except for ...
In humans, there are a total of 46 chromosomes, half of which come from each parent. Chromosomes come in pairs. We have 23. 22 ... The human genome has around 3 billion base pairs.. Chromosome: A strand of DNA contained within a cell. Each chromosome ... Base "A" always pairs with "T," and "G" always pairs with "C." Base pairs are also used as a unit of measure to indicate a ... Human evolution (that humans are descended from non-human animals by an evolutionary process of mutation and natural selection ...
Here are 10 helpful DNA facts for lay-people from the experts at ... 6. 46 chromosomes are found in humans. Typically, human beings have 23 pairs of chromosomes in each cell. Of those pairs, 22 ... "make a human fingernail." DNA for each species is unique, which is why humans only create other humans, kangaroos make other ... Its that last chromosome that differentiates between the sexes. Women have two X chromosomes: XX. And men have one X and one Y ...
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 ...
Human and Dog Anatomy is, unsurprisingly, quite different… although there are similarities. In the third in our summer ... 23 pairs) (39 pairs). human dog. Chromosome number. On dogs, raw food takes 4-6. hours to digest, while dry. food takes 10-12 ... Dog vs Human Anatomy. Dog vs Human Anatomy Facts. The human-dog relationship amounts to a very long lasting symbiosis. Dogs ... Human pregnancy lasts. cca 266 days.. "Humans domesticated dogs,. and dogs domesticated humans." ...
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. ...
  • During the last two decades, there has been a great interest in understanding the genetic and genomic makeup of various species, including humans primarily aided by the different genome sequencing technologies to read the genomes that has been rapidly developing. (
  • although 415 million common and rare genetic variants exist in the human genome,the current genotyping arrays such as Affymetrix and Illumina microarrays can only assay up to 2.5 million SNPs. (
  • access-date= (help) Human ANKRD26 genome location and ANKRD26 gene details page in the UCSC Genome Browser. (
  • For humans, the analysis has successfully generated predicted genotypes in many races including Europeans and African Americans. (
  • 21 Homologous Chromosomes Pair of chromosomes - maternal & paternal - similar in shape & size. (
  • Our findings suggest a model where ZCWPW1 recognition of PRDM9-bound sites on either the homologous, or broken, chromosome is critical for synapsis, and hence fertility. (
  • Here we describe a systematic structure-function analysis of the human ubiquitin (Ub) E2 conjugating proteins, consisting of the determination of 15 new high-resolution three-dimensional structures of E2 catalytic domains, and autoubiquitylation assays for 26 Ub-loading E2s screened against a panel of nine different HECT (homologous to E6-AP carboxyl terminus) E3 ligase domains. (
  • This causes a secretion of thick mucus that affects many areas Its gene is found on chromosome has one recessive allele-they both are heterozygous and carriers for multiple alleles epistasis sex chromosome autosome sex-linked trait philia, and her daughters Alice and Beatrice, illustrated in the pedigree. (
  • Humans carrying the gene for macular degeneration might want to invest in higher quality sunglasses, head to the ophthalmologist more often and take supplements to augment their ocular health. (
  • A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q. (
  • use Circos to visualize the transcriptome and gene expression of placenta from 20 healthy women in their article A comprehensive analysis of the human placenta transcriptome . (
  • We confirmed that male recombination map is 10% longer than the female map in all three cattle breeds, consistent with previously reported results in Holstein cattle. (
  • When comparing recombination hotspot regions between cattle breeds, we found that 30% and 10% of the hotspots were shared between breeds in males and females, respectively, with each breed exhibiting some breed-specific hotspots. (
  • In humans and other species, recombination is initiated by double strand breaks at sites bound by PRDM9. (
  • If recombination happens between unpaired chromosomes, large pieces of chromosome may be inappropriately rearranged, resulting in translocations. (
  • To further define the type and arrangement of sequences at the ends of human chromosomes, we developed a direct cloning strategy for telomere-associated DNA. (
  • Nineteen (TTAGGG)n-bearing plasmids were isolated, two of which contain additional human sequences proximal to the telomeric repeats. (
  • These telomere-flanking sequences detect BAL 31-sensitive loci and thus are located close to chromosome ends. (
  • The pairing of homologues brings together the near-identical sequences found on each chromosome, and this sets the stage for crossing over. (
  • The authors honed in on comparing the mtDNA HV1 sequences, eleven Y chromosome bi-allelic markers, and 9 Y-STR loci. (
  • these chromosomes contain the nearly three billion base pair sequences that comprise each individual's genetic code. (
  • The 23162 sequences contain 10,165,980 base pairs in total. (
  • Conclusion In this context, we studied chromosomes, which are found in the nucleus and contain the hereditary material. (
  • Suffice to say, I got really interested to stumble upon an early online release paper from the Annals of Human Genetics , which investigates the, " Close Genetic Relationship Between Semitic-speaking and Indo-European-speaking Groups in Iran ," because it has tangents to at least half of my known heritage. (
  • Almost every human being carries 23 pairs of chromosomes, and while DNA sequencing is still difficult, expensive and time-consuming to carry out, genotyping (which is what 23andMe provides) tests you for known genetic variants. (
  • The Russian linguists found that the genetic code, especially in the apparently useless 90%, follows the same rules as all our human languages. (
  • A genetic code, encoded into DNA usually runs every aspect of an organism's life, either through … Clockwise from top right, the genomes of a human, a chimpanzee, a mouse and a zebrafish are arranged in a circle, with each color square corresponding to a pair of chromosomes. (
  • 136][185][186] Of the 0.1%-0.5% of human genetic differentiation, 85% exists within any randomly chosen local population. (
  • DNA is the genetic information in the chromosomes (which contain a double helix of nucleotides). (
  • Embark's genetic age feature calculates how old your dog would be if he or she were aging at an average human rate (using humans in the USA as the baseline). (
  • Furthermore, as Earth passed through the Last Glacial Maximum, and humans began to move across the planet some 25,000 to 8,000 years ago, virtually all modern wolves fell into genetic bottlenecks that the authors attribute to the colonization of Eurasia by anatomically modern hunters and gatherers with new weapons that allowed them to kill efficiently at a distance. (
  • A study shows that one in 7 kidney donor-recipient pairs may have a type of genetic incompatibility that leads to organ rejection. (
  • where a hyper-arid phase in Arabia may very well have caused a bottleneck in the population of modern humans, and full behavioral modernity/UP revolution (40.0ky? (
  • ZCWPW1 does not help position the breaks themselves, but is essential for their downstream repair and chromosome pairing, and ultimately meiotic success and fertility in mice. (
  • It is shown here that antlions and owlflies share a simple sex chromosome Abstract Lepidoptera (butterflies and moths), as many other groups of animals and plants Biochemical characterization of conditioned media from P. stuartii has shown that NOR staining was found in the interstitial region of one autosomal pair. (
  • Our stage one multipoint lod score (logarithm of the odds ratio for linkage/no linkage) of 2.48 (266 sibling pairs) increased to 3.83 in stage 2 (429 sibling pairs) close to D10S1225 (79 centimorgans). (
  • Generally the nucleus of a human cell contains two sets of chromosomes'one set given by each parent. (
  • Chromosomes are the thread-like structures present inside the nucleus of an animal cells. (
  • This fits the Biblical creation account that God created humans as spiritual beings with an everlasting spirit or soul (Genesis 2:7). (
  • It was believed that these water spirits were occasionally capable of assuming the appearance of normal human beings and actually associating with men and women. (
  • There has been a 20 year study to determine which dog breeds are more likely to actually kill human beings. (
  • Susceptibility locus for Alzheimer's disease on chromosome 10. (
  • Here we report evidence for an Alzheimer's disease locus on chromosome 10. (
  • Highest incidence of widespread runs per SNP throughout breeds was noticed on chromosome 10 with over 250 incidences of widespread ROHs. (
  • Distal to the subtelomeric repeat, the chromosomes terminate in a long region (up to 14 kb) that may be entirely composed of TTAGGG repeats. (
  • The repeats are directly adjacent to each other and can range in length from 2 to 10 base pairs. (
  • I have a samsung 75" mu8000 that Samsung "fixed" vertical banding issues by replacing the screen and motherboard in Jan of 2020, and now less than 10 months later the bands are back. (
  • Only 10% of our DNA is being used for building proteins. (
  • UB2E2_HUMAN ] Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. (
  • xii) best_blastp_hits_brigprot.WS158.gz - for each C. briggsae protein, lists Best blastp match to human, fly, yeast, C. elegans, and SwissProt & TrEMBL proteins. (
  • If egg and sperm had same number of chromosomes as other body cells. (
  • Egg and sperm with half the number of chromosomes than other body cells. (
  • Although sperm telomeres are 10 to 14 kb long, telomeres in somatic cells are several kilobase pairs shorter and very heterogeneous in length. (
  • In humans, DNA is found in almost all the cells of the body and provides the instructions they need Each species has its own characteristic number of chromosomes. (
  • Changes in the number or structure of chromosomes in new cells can result in serious problems. (
  • Thus, the new centrosome halves have a pair of centrioles each and form new independent daughter cells. (
  • Students used yeast cells as a human cell simulation because the cellular make-up of yeast is very similar to that of a human cell. (
  • Yeast and human cells are both Eukaryotic, meaning that through experimenting with yeast, students can learn about the function of the human cell. (
  • In addition to being easy to manipulate, yeast cells resemble human cells because they both contain the organelle, mitochondria. (
  • Sometimes errors occur during the division process that result in cells with an additional chromosome or a deleted chromosome. (
  • Where a particular mutagen alters or breaks the chromosomes of the reproductive cells, including the eggs or oocytes, a later-fertilized egg may possess the chromosomal alteration. (
  • Here, we show that ZCWPW1 has co-evolved with PRDM9 and, in human cells, is strongly and specifically recruited to PRDM9 binding sites, with higher affinity than sites possessing H3K4me3 alone. (
  • The splitting date between human and chimpanzee lineages is placed 4-8 million years ago, during the late Miocene epoch. (
  • Like in humans, in dogs females tend to live longer than males (so an "80 year old" female dog = 80 year old woman). (
  • These arms are separated from each other only by the centromere , which is the point at which the chromosome is attached to the spindle during cell division. (
  • These halves join at conception: when a sperm and egg, 它们在受孕时结合在一起 each with only 23 chromosomes, combine. (
  • First, humans evolved from a creature whose descendants eventually became two species of primate - apes and humans. (
  • 137] The variation in human DNA is very small compared to other species, possibly suggesting a population bottleneck during the Late Pleistocene (around 100,000 years ago), in which the human population was reduced to a small number of breeding pairs. (
  • We should evaluate the major evidences that exposes the 98% myth and supports the current conclusion that the actual similarity is 84.4%, or a difference of 15%, which translates to over 360 million base pairs' difference. (
  • QTL end base pair position. (
  • RNA is a single stranded nucleic acid that is transcribed from base pairing nucleotides from the DNA. (
  • A protein, MutS acknowledges and binds the mismatched base pair. (
  • [vi] That is an enormous difference that produces an unbridgeable chasm between humans and chimpanzees. (
  • Yet any high school student can debunk the "Human and Chimp DNA is 98% similar" mantra that this chapter covers. (
  • Q: If a sperm cell has 46 chromosomes (2n) & an egg cell has 46 chromosomes (2n), when they combine during fertilization, how many chromosomes will the baby have? (
  • Simple animal cell diagram labeled for kids 10 kb 9 60. (
  • File simple diagram of animal cell en svg wikimedia commons. (
  • 那是因为在一个精子或是卵子里的23条染色体 aren't identical to the chromosomes of every other cell (
  • As they go from a cell with 46 chromosomes to a sex cell with only 23, 当它们从一个有46条染色体的细胞变成只 (
  • Additionally, we analyzed 96 dyslexic individuals who had previously shown positive LOD scores on chromosome 4q28 as well as an even larger sample ( = 2591). (
  • extra autosomal or sex chromosomes would find, according to Mendelian spring will be born How many children in a family of four will be able to roll students why each gamete has ters, Alice and Beatrice, were carriers for the trait. (
  • An example is the manufacturing of human progress hormone, which is used to deal with kids who fail to grow correctly. (
  • In which of the following are the name and formula correctly paired? (
  • These two families split from one another many hundreds or thousands of years after the original primate lived, and then split again many thousands of years later, and kept on splitting until now, when we have apes and humans. (
  • 34][35] During this split, chromosome 2 was formed from the joining of two other chromosomes, leaving humans with only 23 pairs of chromosomes, compared to 24 for the other apes. (
  • If we are genetically related to chimps, some may conclude that humans should behave like animals, with no fear of divine justice. (
  • One of the great trophies that evolutionists parade to prove human evolution from some common ape ancestor is the assertion that human and chimp DNA are 98 to 99% similar. (
  • So the fact is that we did not evolve from "an ape family," but from an ancestor of both the ape family and the human family. (
  • This is, strictly speaking, the common ancestor of J1 and J2, since J*(xJ1, J2) chromosomes have also been observed. (
  • We then apply our method to human data from the 1000 Genomes Project, and show that we can accurately recapitulate the features of real data. (
  • In this Commentary we: (i) describe CRISPR-Cas9 and indicate how it has impacted medicine, biotechnology and agriculture, but suggest that it is most famous for its potential to modify human embryos to provide therapies for inherited killer diseases for which there are no known cures, (ii) suggest that although the technology is gaining regulatory support for its use in humans, there is no universal regulatory agreement. (
  • Structure and variability of human chromosome ends. (
  • Since the basic structure of DNA-alkaline pairs and of language (as explained earlier) are of the same structure, no DNA decoding is necessary. (
  • A human ubiquitin conjugating enzyme (E2)-HECT E3 ligase structure-function screen. (
  • Mean proportion of SNPs per breed per ROH island ranged from 0.02 ± 0.15 (island ROH224 on chromosome 23) to 0.13 ± 0.29 (island ROH175 on chromosome 15). (