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. (1/1744)

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)

Leukemia translocation protein PLZF inhibits cell growth and expression of cyclin A. (2/1744)

The PLZF gene was identified by its fusion with the RARalpha locus in a therapy resistant form of acute promyelocytic leukemia (APL) associated with the t(11;17)(q23;q21) translocation. Here we describe PLZF as a negative regulator of cell cycle progression ultimately leading to growth suppression. PLZF can bind and repress the cyclin A2 promoter while expression of cyclin A2 reverts the growth suppressed phenotype of myeloid cells expressing PLZF. In contrast RARalpha-PLZF, a fusion protein generated in t(11;17)(q23;q21)-APL activates cyclin A2 transcription and allows expression of cyclin A in anchorage-deprived NIH3T3 cells. Therefore, cyclin A2 is a candidate target gene for PLZF and inhibition of cyclin A expression may contribute to the growth suppressive properties of PLZF. Deregulation of cyclin A2 by RARalpha-PLZF may represent an oncogenic mechanism of this chimeric protein and contribute to the aggressive clinical phenotype of t(11;17)(q23;q21)-associated APL.  (+info)

Multiple target sites of allelic imbalance on chromosome 17 in Barrett's oesophageal cancer. (3/1744)

Twelve Barrett's adenocarcinomas have been analysed for the occurrence of allelic imbalance (LOH) on chromosome 17 using 41 microsatellite markers. This study provides evidence for 13 minimal regions of LOH, six on 17p and seven on 17q. Four of these centre in the vicinity of the known tumour suppressor genes (TSGs) TP53 (17p13.1), NFI (17q11.2), BRCA1 (17q21.1), and a putative TSG (17p13.3). The tumours all displayed relatively small regions of LOH (1-10 cM), and in several tumours extensive regions of LOH were detected. One tumour displayed only two very small regions of LOH; 17p11.2 and 17p13.1. The frequency of allelic imbalance has been calculated based on the LOH encompassing only one minimal region, and based on all the LOH observations. By both evaluations the highest LOH frequencies were found for regions II (p53), III (17p13.1 centromeric to p53), IV (17p12), V (17p11.2) and VII (NF1, 17q11.2). Our data supports the existence of multiple TSGs on chromosome 17 and challenges the view that p53 is the sole target of LOH on 17p in Barrett's adenocarcinoma.  (+info)

Correlation between the status of the p53 gene and survival in patients with stage I non-small cell lung carcinoma. (4/1744)

The association of p53 abnormalities with the prognosis of patients with non-small cell lung carcinoma (NSCLC) has been extensively investigated to date, however, this association is still controversial. Therefore, we investigated the prognostic significance of p53 mutations through exons 2 to 11 and p53 protein expression in 103 cases of stage I NSCLC. p53 mutations were detected in 49 of 103 (48%) tumors. Two separate mutations were detected in four tumors giving a total of 53 unique mutations in 49 tumors. Ten (19%) of mutations occurred outside exons 5-8. Positive immunohistochemical staining of p53 protein was detected in 41 of 103 (40%) tumors. The concordance rate between mutations and protein overexpression was only 69%. p53 mutations, but not expression, were significantly associated with a shortened survival of patients (P<0.001). Furthermore, we investigated the correlation between the types of p53 mutations and prognosis. p53 missense mutations rather than null mutations were associated with poor prognosis (P < 0.001 in missense mutations and P=0.243 in null mutations). These results indicated that p53 mutations, in particular missense mutations, rather than p53 expression could be a useful molecular marker for the prognosis of patients with surgically resected stage I NSCLC.  (+info)

Retinoic acid, but not arsenic trioxide, degrades the PLZF/RARalpha fusion protein, without inducing terminal differentiation or apoptosis, in a RA-therapy resistant t(11;17)(q23;q21) APL patient. (5/1744)

Primary blasts of a t(11;17)(q23;q21) acute promyelocytic leukaemia (APL) patient were analysed with respect to retinoic acid (RA) and arsenic trioxide (As2O3) sensitivity as well as PLZF/RARalpha status. Although RA induced partial monocytic differentiation ex vivo, but not in vivo, As203 failed to induce apoptosis in culture, contrasting with t(15;17) APL and arguing against the clinical use of As203 in t(11;17)(q23;q21) APL. Prior to cell culture, PLZF/RARalpha was found to exactly co-localize with PML onto PML nuclear bodies. However upon cell culture, it quickly shifted towards microspeckles, its localization found in transfection experiments. Arsenic trioxide, known to induce aggregation of PML nuclear bodies, left the microspeckled PLZF/RARalpha localization completely unaffected. RA treatment led to PLZF/RARalpha degradation. However, this complete PLZF/RARalpha degradation was not accompanied by differentiation or apoptosis, which could suggest a contribution of the reciprocal RARalpha/PLZF fusion product in leukaemogenesis or the existence of irreversible changes induced by the chimera.  (+info)

High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. (6/1744)

Previously, we assigned the genes for two autosomal recessive disorders, Meckel syndrome (MKS; MIM 249000) and Mulibrey Nanism [MUL (muscle-liver-brain-eye Nanism); MIM 253250] that are enriched in the Finnish population, to overlapping genomic regions on chromosome 17q. Now, we report the construction of a bacterial clone contig over the critical region for both disorders. Several novel CA-repeat markers were isolated from these clones, which allowed refined mapping of the MKS and MUL loci using haplotype and linkage disequilibrium analysis. The localization of the MKS locus was narrowed to <1 cM between markers D17S1290 and 132-CA, within an approximately 800-kb region. The MUL locus was refined into an approximately 1400-kb interval between markers D17S1290 and 52-CA. The whole MKS region falls within the MUL region. In the common critical region, the conserved haplotypes were different in MKS and MUL patients. A trancript map was constructed by assigning expressed sequence tags (ESTs) and genes, derived from the human gene map, to the bacterial clone contig. Altogether, four genes and a total of 20 ESTs were precisely localized. These data provide the molecular tools for the final identification of the MKS and the MUL genes.  (+info)

A susceptibility locus for epidermodysplasia verruciformis, an abnormal predisposition to infection with the oncogenic human papillomavirus type 5, maps to chromosome 17qter in a region containing a psoriasis locus. (7/1744)

Epidermodysplasia verruciformis (EV) is a rare genodermatosis characterized by an abnormal susceptibility to infection with a specific group of related human papillomavirus (HPV) genotypes, including the oncogenic HPV5 associated with the skin carcinomas developing in about half of EV patients. EV is usually considered as an autosomal recessive condition. Taking EV as a model to identify a locus underlying the susceptibility to HPV infections, we performed a genome-wide search for linkage with 255 microsatellite genetic markers in three consanguineous EV families comprising six patients, using the homozygosity mapping approach. Homozygosity restricted to affected individuals was observed for a marker of chromosome 17q (D17S784) in two families and a marker about 17 centiMorgan (cM) distal (D17S1807) in the third family. Ten additional microsatellite markers spanning 29 cM in this region were analyzed. Two-point lod score values greater than 3 were obtained for four markers and multipoint linkage analysis yielded a maximum lod score of 10.17 between markers D17S939 and D17S802. Recombination events observed in two families allowed a candidate region for the EV susceptibility locus to be mapped to the 1 cM region defined by these two markers. The EV locus (named EV1) is included in the 17qter region recently found to contain a dominant locus for the susceptibility to familial psoriasis. It has been shown that patients suffering from psoriasis are likely to constitute the reservoir of HPV5. It is thus tempting to speculate that distinct defects affecting the same gene may be involved in the two skin conditions.  (+info)

Localization of PS6K to chromosomal region 17q23 and determination of its amplification in breast cancer. (8/1744)

The application of comparative genomic hybridization to the analysis of genetic abnormalities in breast carcinoma has consistently revealed that chromosome region 17q22-24 is a frequent site of gene amplification in this type of cancer. As part of an examination of expressed sequence tags for novel amplified genes in this region, we identified PS6K amplifications in both breast tumor tissues and cell lines. PS6K was localized to 17q23 and encodes a serine-threonine kinase whose activation is thought to regulate a wide array of cellular processes involved in the mitogenic response including protein synthesis, translation of specific mRNA species, and cell cycle progression from G1 to S phase. Northern and Western analyses revealed that amplification of this gene was accompanied by corresponding increases in mRNA and protein expression, respectively. These data represent the first determination of a gene amplification within 17q22-24 in breast cancer and suggest an oncogenic activity for PS6K.  (+info)

Smith-Magenis Syndrome (SMS) is a genetic disorder with features including intellectual disability, facial abnormalities, difficulty sleeping, and numerous behavioral problems such as self-harm. Smith-Magenis syndrome affects an estimated between 1 in 15,000 to 1 in 25,000 individuals. It is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17 and is sometimes called the 17p- syndrome. Facial features of children with Smith-Magenis syndrome include a broad face, deep-set eyes, large cheeks, and a prominent jaw, as well as a flat nose bridge. The mouth curves downwards and the upper lip curves outwards. These facial features become more noticeable as the individual ages. Disrupted sleep patterns are characteristic of Smith-Magenis syndrome, typically beginning early in life. Affected people may be very sleepy during the day, but have trouble falling asleep and awaken several times each night, due to an inverted circadian rhythm of melatonin. People with ...
Facial features of children with Smith-Magenis syndrome include a broad and square face, deep-set eyes, large cheeks, and a prominent jaw, as well as a flat nose bridge (in the young child; as the child ages it becomes more ski-jump shaped). Eyes tend to be deep-set and appear close together there is also a slant upwards. Eyebrows are heavy with lateral extension. The mouth is the most noticeable feature, both upper and lower lips are full, the mouth is wide. The mouth curves downwards and the upper lip curves outwards, due to a fleshy philtrum. These facial features become more noticeable as the individual ages, as Mandible growth outstrips that of the maxilla leading to a clear midface hypoplasia. There is also a mild brachycephaly.[3]. Disrupted sleep patterns are characteristic of Smith-Magenis syndrome, typically beginning early in life. Affected people may be very sleepy during the day, but have trouble falling asleep and awaken several times each night, due to an inverted circadian rhythm ...
We undertook clinical evaluation (32 cases) and molecular evaluation (31 cases) of unrelated patients affected with Smith-Magenis syndrome (SMS) associated with an interstitial deletion of band p11.2 of chromosome 17. Patients were evaluated both clinically and electrophysiologically for peripheral …
Smith-Magenis Syndrome is a rare chromosomal disorder characterized by abnormalities of the head and facial (craniofacial) area, delays in the acquisition of skills requiring the coordination of mental and muscular activities (psychomotor retardation), mental retardation, speech delays, and/or behavioral abnormalities.
Smith-Magenis syndrome (SMS) is a genetic condition which causes noticeable physical characteristics and some cognitive difficulties. Children with SMS tend to...
Moshier, M. S., York, T. P., Silberg, J. L. and Elsea, S. H. (2012), Siblings of individuals with Smith-Magenis syndrome: an investigation of the correlates of positive and negative behavioural traits. Journal of Intellectual Disability Research, 56: 996-1007. doi: 10.1111/j.1365-2788.2012.01581.x ...
Sloneem, J and Oliver, C and Udwin, O and Woodcock, K (2011) Prevalence, phenomenology, aetiology and predictors of challenging behaviour in Smith-Magenis syndrome. Journal Of Intellectual Disability Research. ...
The duration of wake after sleep onset period will be measured for the Circadin 2/5 mg and placebo by a Sleep and Nap Diary after 13 weeks of double-blind treatment ...
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Smith-Magenis syndrome (SMS) is a mental retardation syndrome with distinctive behavioral characteristics, dysmorphic features, and congenital anomalies ascribed to an interstitial deletion of chromosome 17p11.2. Severe sleep disturbances and maladaptive daytime behavior have been linked to an abnor …
Smith-Magenis syndrome (SMS) is a complex disorder caused by haploinsufficiency of RAI1 and characterized by sleep disturbances, behavioral abnormalities, mental retardation, and obesity in teens and adults. Rai1+/- mice are obese after 20 weeks. Dup(17)(p11.2) syndrome is a complex disorder associated with overexpression of RAI1. A transgenic mouse model of dup(17)(p11.2) syndrome overexpresses Rai1 and results in a mouse that is growth delayed. In order to characterize the obese phenotypes of mouse models of SMS and the role of RAI1 in obesity, daily food intake and serum levels of insulin, glucose, PPY, and leptin were measured; adiposity was studied by characterizing fat deposition; and gene expression was studied in the hypothalamus. These studies show that Rai1+/- mice are hyperphagic, consume more during the inactive light phase, and have altered satiety genes in the hypothalamus. Adiposity studies have shown WT females have a higher body fat content and visceral fat proportion than males,
In 1963, Miller reported two siblings with a specific pattern of malformations in which lissencephaly was a key feature. Later in 1969, Dieker et al. described a similar condition. Jones et al. in ...
Smith-Magenis syndrome repeat gene cluster, proximal, made of some 14 genes and pseudogenes comprising one copy of KIAA00565, and sequence homolog to LGALS9, NOS2A, SRP68, UPF3A, USP6 ...
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هدف : ارزیابی میزان تاثیر یک برنامه کنترل ورم پستان بر برخی شاخصهای بهداشتی پستانها و کیفیت شیر گله. طرح : تجربه میدانی. حیوانات : یک گله بزرگ نژاد هلشتاین با میانگین 1150 راس گاو شیری. روش : ارزیابی وضعیت بهداشتی پستانها با استفاده از CMT و اخذ نمونه شیر به منظور کشت باکتریولوژی از 34/19 درصد گله دوشا، اجرای یک برنامه کنترل ورم پستان شامل درمان ضربتی استرپتوکوکوس آگالاکتیه، ضد عفونی سرپستانها پس از دوشش به روش اسپری با استفاده از محلول 5/2 درصد پاویدون آیوداین همراه با 5 درصد گلیسیرین، درمان ترکیبی گاوهای خشک، درمان عمومی تلیسه‌های آبستن سنگین، مدیریت بهداشتی
Patients of all ages with SMS may be eligible for this study. They will be evaluated by a team of medical specialists at the NIH Clinical Center over the course of several days. Parents of patients will be asked to provide copies of past medical records and tests results for review. They will provide a family medical history and information on the child s prenatal, developmental, behavioral and medical histories.. The study may involve the following evaluations: physical, neurological and psychological exams; ear, nose and throat evaluation; speech, language and swallowing evaluation; hearing test; eye examination; imaging studies (e.g., X-rays, ultrasound, MRI); developmental and behavioral assessment; rehabilitation evaluation with gait (walking) analysis; urinalysis, blood, and/or skin cell studies; sleep study; other consultations as required. A tissue sample (blood or cheek swab or skin biopsy) may be taken for genetic studies. To obtain a cheek swab, a small brush is rubbed against the ...
From NCBI Gene:. This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]. From UniProt: ...
遺伝子「MYL6P3」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。
Most of the approaches for Twitter bot detection rely on the use of supervised classifiers, with Random Forest being the one that is currently most used, as can be seen in Table 1, and has helped achieve an AUC of 1.0 for specific types of bots (Yang et al., 2019).Furthermore, while all features have been useful to the correct classifiion of legitimate and bot accounts, the features that ...
All information about the latest scientific publications of the Clínica Universidad de Navarra. Upper digestive hemorrhage in a patient with von Recklinghausen neurofibromatosis
Miller-Dieker syndrome is a genetic condition characterized by lissencephaly, typical facial features, and severe neurologic abnormalities. Symptoms may include severe intellectual disability, developmental delay, seizures, muscle stiffness, weak muscle tone and feeding difficulties. Miller-Dieker syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 17. Treatment is symptomatic and supportive ...
On May 21, the Smith-Magenis Syndrome (SMS) Research Foundation will host the second annual Siennas Steps 5K Run/Walk at Memorial Hospital Miramar (located at 1901 S.W. 172nd Ave.).The 5K
Earlier studies identified that mutation or deletion of the RAI1 gene results in Smith-Magenis Syndrome, a complex disorder characterized by obesity, sleep disturbances, negative behaviors and developmental delays.. How this disruption of RAI1 causes Smith-Magenis Syndrome is not fully understood, said Sarah H. Elsea, Ph.D., associate professor in the VCU Departments of Pediatrics and Human and Molecular Genetics in the VCU School of Medicine. One of the hallmarks of Smith-Magenis Syndrome is severe sleep disturbance, and through our current work, we have found that alteration of the expression or function of RAI1 disrupts the expression of other molecular clock genes, dysregulating circadian rhythm.. Circadian rhythms are physical, mental and behavioral changes that follow a roughly 24-hour cycle, responding primarily to light and darkness in the environment. In this current study, Elsea, graduate student Stephen Williams, Ph.D., and the research team have identified a novel and important ...
Charcot-Marie-Tooth type 1 disease (CMT1) and hereditary neuropathy with liability to pressure palsies (HNPP) are common inherited disorders of the peripheral nervous system. The majority of CMT1 patients have a 1.5Mb tandem duplication (CMT1A) in chromosome 17p11.2 while most HNPP patients have a deletion of the same 1.5 Mb region. The CMT1A duplication and HNPP deletion are the reciprocal products of an unequal crossing over event between misaligned flanking CMT1A-REP elements. We analysed 162 unrelated CMT1A duplication patients and HNPP deletion patients from 11 different countries for the presence of a recombination hotspot in the CMT1A-REP sequences. A hotspot for unequal crossing over between the misaligned flanking CMT1A-REP elements was observed through the detection of novel junction fragments in 76.9% of 130 unrelated CMT1A patients and in 71.9% of 32 unrelated HNPP patients. This recombination hotspot was also detected in eight out of 10 de novo CMT1A duplication and in two de novo HNPP
We are kicking off this years blog posts with our wonderful Miracle Kid, Natalie Stephanouk! Natalie began receiving care at Piedmont Columbus Regional the day she was born. Since then, she has grown into the energetic and social 8-year-old we see at Main Event each year. View our Q&A with Natalies mom, Allison, to read what makes this Miracle Kid so special! Natalies miracle story:. Natalie is an 8 year old with Smith-Magenis Syndrome. She was born premature at 34 weeks at Piedmont Columbus Regional. She was in the NICU for four days until she was transferred for intestinal surgery and remained in the hospital for 7 weeks. A NICU nurse in the delivery room noticed a few very subtle abnormalities about Natalie on the day she was born. This initiated the testing that uncovered a missing piece of genetic material from one of her chromosomes. The disorder occurs in approximately 1 in 25,000 live births and is under-diagnosed. Smith-Magenis Syndrome causes global developmental delay, complex ...
Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008 ...
Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is similar to a serine/threonine kinase in C. elegans which is involved in axonal elongation. The structure of this protein is similar to the C. elegans protein in that both proteins have an N-terminal kinase domain, a central proline/serine rich (PS) domain, and a C-terminal (C) domain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2008 ...
We additional showed the mTOR pathway to be essential in regulating OXPHOS in breast cancer cells and observed that manipu lation Maraviroc CCR5 阻害剤 of express
Hi My seconddaughter was born 7 weeks early on the 19/8 after my waters broke at 26 weeks. She did amazingly to hang on that long and we knew she wasa fighter. She was born by c-section and when she came out she meowed like a cat... and I knew there was something wrong, all the…
Kaplan K, McCool C, Lupski JR, Glaze D, Potocki L. Objective measures of sleep disturbances in children with Potocki-Lupski syndrome. Am J Med Genet A. 2019 ;179(10):1982-1986. ...
RATIONALE: Hereditary neuropathy with liability to pressure palsy (HNPP) is an episodic, multifocal neuropathy, with a typical clinical presentation of recurrent transient pressure palsies, which is induced by a PMP22 deletion. Another neuropathy caused by a PMP22 duplication is Charcot-Marie-Tooth disease type 1A (CMT1A). PMP22 is a gene coding a protein called peripheral myelin protein 22 (PMP22), which plays an essential role in the formation and maintenance of compact myelin. Coexistence of type 2 diabetes mellitus (T2DM) and CMT1A has been reported in many work, however HNPP patients with T2DM are rare, and comorbidity of HNPP and psoriasis has not been reported previously ...
Symptoms of Charcot-Marie-Tooth disease type X (CMTX) include muscle weakness and atrophy and decreased feeling in the feet, lower legs, hands, and arms.
Relief is when you and the right researcher find each other Finding the right clinical trial for Charcot-Marie-Tooth Disease Type 4B2 can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity. ...
TY - JOUR. T1 - Clinical-pathologic study of biomarkers in FTDP-17 (PPND family with N279K tau mutation). AU - Arvanitakis, Zoe. AU - Witte, Robert J.. AU - Dickson, Dennis W.. AU - Tsuboi, Yoshio. AU - Uitti, Ryan J.. AU - Slowinski, Jerzy. AU - Hutton, Michael L.. AU - Lin, Siong Chi. AU - Boeve, Bradley F.. AU - Cheshire, William P.. AU - Pooley, Robert A.. AU - Liss, Julie. AU - Caviness, John N.. AU - Strongosky, Audrey J.. AU - Wszolek, Zbigniew K.. PY - 2007/5/1. Y1 - 2007/5/1. N2 - The objective of this clinical-pathologic study was to identify biomarkers for a pallidopontonigral degeneration (PPND) kindred of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) harboring the N279K tau mutation. Five affected subjects, one at-risk who later became symptomatic, and one at-risk asymptomatic mutation carrier, had abnormal 18fluorodeoxyglucose PET demonstrating asymmetric temporal lobe hypometabolism. All except the asymptomatic mutation carrier had abnormal brain MRI. ...
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, ...
The Huang lab is interested in studying the molecular, cellular, circuit, and behavioral functions of genes involved in autism spectrum disorders (ASDs) and epilepsy. We are currently focusing on Smith-Magenis Syndrome (SMS), a childhood developmental disorder caused by loss of Retinoic Acid Induced 1 (RAI1) and is associated with intellectual disability, ASD, and severe epilepsy. We will apply modern molecular and neuroscience techniques to decipher the molecular and neural functions of RAI1. Currently, we are interested in the following areas: ...
Charcot-Marie-Tooth disease, Type 2E information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E; CMTDIE description, symptoms and related genes. Get the complete information in our medical sear
Marco, A (2003) Evolutionary and Structural Analyses of GDAP1, Involved in Charcot-Marie-Tooth Disease, Characterize a Novel Class of Glutathione Transferase-Related Genes. Molecular Biology and Evolution, 21 (1). 176 - 187. ISSN 0737-4038 ...
Farmaceutisch Analytisch Laboratorium Duiven B.V. (FAL Duiven) was founded in 1982, as a privately owned company and moved to the present purpose built premises in 1997.
Looking for online definition of Charcot-Marie-Tooth disease type 6 in the Medical Dictionary? Charcot-Marie-Tooth disease type 6 explanation free. What is Charcot-Marie-Tooth disease type 6? Meaning of Charcot-Marie-Tooth disease type 6 medical term. What does Charcot-Marie-Tooth disease type 6 mean?
What is Charcot-Marie-Tooth disease? What are the symptoms of Charcot-Marie-Tooth disease? What causes Charcot-Marie-Tooth disease? What are the types of Charcot-Marie-Tooth disease? How is Charcot-Marie-Tooth disease diagnosed? How is Charcot-Marie-Tooth disease treated? What research is being done? Where can I get more information?
Hereditary neuropathy with liability to pressure palsies information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and INTELLECTUAL DISABILITY. Behavioral phenotypes include sleep disturbance, maladaptive, self-injurious and attention-seeking behaviors. The sleep disturbance is linked to an abnormal circadian secretion pattern of MELATONIN. The syndrome is associated with de novo deletion or mutation and HAPLOINSUFFICIENCY of the retinoic acid-induced 1 protein on chromosome 17p11.2 ...
The IUPHAR/BPS Guide to Pharmacology. Charcot-Marie-Tooth disease type 2A disease page. Quantitative data and detailed annnotation of the targets of licensed and experimental drugs.
Trisenox (arsenic trioxide) injection has been approved in combination with tretinoin for the treatment of adults with newly-diagnosed low-risk acute promyelocytic leukemia (APL)
This gene encodes a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008 ...
One of the most problematic aspects of surgery for hepatocellular carcinoma (HCC) is the frequent development of multiple tumors. Determination of the origin of multiple tumors, i.e., multifocal or metastatic, is important for predicting the clinical course of the disease after surgery. In order to clarify the origin of multiple tumors of HCC genetically, we examined patterns of loss of heterozygosity (LOH) on chromosome 16 for DNA isolated from 43 HCCs resected from 19 patients by analysis of restriction fragment length polymorphism. The cases were classified macro- and microscopically into 3 groups: multifocal origin; metastatic origin; and undetermined. Classification based on morphological features was shown to be well correlated with patterns of LOH in multiple tumors of HCC. Different patterns of LOH on chromosome 16 were detected in 8 of 11 patients with tumors of morphologically multifocal origin, whereas they were detected in none of 5 patients with tumors of morphologically metastatic ...
Charcot-Marie-Tooth Disease or CMT is a slow progression of weakness in the muscles as well as atrophy or wasting in the feet lower legs forearms and hands
Charcot-Marie-Tooth disease is an inherited nerve defect that causes abnormalities in the nerves that supply your feet, legs, hands, and arms.
Genes on human chromosome 1. *Clusters of differentiation. *Immune system. *Blood antigen systems ... The mouse gene has two exons (100 and 1064 nucleotides in length respectively), separated by a 461 base pair intron. In the ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. ... "American Journal of Human Genetics. 66 (5): 1669-79. doi:10.1086/302879. PMC 1378024. PMID 10762551.. ...
The human gene CCDC37 is found on chromosome 3 at the band 3q21.3. It extends from base pairs 90,403,731 to 90,429,231, making ... There is only one paralog for CCDC37 found in humans, CCDC38. CCDC38 is located on chromosome 12. The ortholog space of CCDC37 ... Coiled-coil domain-containing 37, also known as FLJ40083, is a protein that in humans is encoded by the CCDC37 gene (3q21.3). ... "CCDC37 coiled-coil domain containing 37 [Homo sapiens (human)] - Gene". Ncbi.nlm.nih.gov. Retrieved 2015-03-07. CS1 maint: ...
"Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome ... This missing region corresponds to 85 base pairs near the end of the 5' UTR. Variant one is more abundant than Variant two with ... This gene is found on the plus strand of chromosome 17 at locus 17q11.2. It spans from base pairs 31,254,928 to 31,272,124. ... Transmembrane protein 98 is a single-pass membrane protein that in humans is encoded by the TMEM98 gene. The function of this ...
CTNS is located on the p arm of human chromosome 17, at position 13.2.[5] It spans base pairs 3,636,468 and 3,661,542, and ... The most common mutation is a 57,257 base pair deletion commonly referred to as the 57 kb deletion. This was formally known as ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. .mw-parser-output ... "American Journal of Human Genetics. 63 (5): 1352-62. doi:10.1086/302118. PMC 1377545. PMID 9792862.. ...
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 name denotes the location of the parent gene, being at the 78th open reading frame, on the 17th human chromosome. The ... Isoform 1 is encoded by a mRNA sequence that is 1920 base pairs in length. Isoform 2 derives from a mRNA sequence of 1678 base ... There are no known paralogs of this gene in humans. "C17orf78 chromosome 17 open reading frame 78 [Homo sapiens (human)] - Gene ... C17orf78 (Chromosome 17 Open Reading Frame 78) is found on the long arm cytogenetic band 17q12. The genomic sequence spans from ...
Schäfer BW, Mattei MG (July 1993). "The human paired domain gene PAX7 (Hup1) maps to chromosome 1p35-1p36.2". Genomics. 17 (1 ... Paired box protein Pax-7 is a protein that in humans is encoded by the PAX7 gene. Pax-7 plays a role in neural crest ... Pilz AJ, Povey S, Gruss P, Abbott CM (March 1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... PAX7+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) PAX7 human gene location in the UCSC ...
... is a human oncogene (gene symbol PSMC3IP, alias TBPIP or Hop2) located within the BRCA1 locus at chromosome 17q21. It ... GT198 spans 5.5 kilobase pairs (Kb) and contains eight exons. GT198 is located 470 Kb proximal to BRCA1 and 2.9 megabase pairs ... GT198 is located at the long arm of human chromosome 17 (17q21). ... In human breast cancer, GT198 is a marker for mutant tumor ... The mouse, and human GT198 gene, were subsequently described. GT198 has protein isoforms as splice variants encoded by at least ...
Humans have 23 pairs of chromosomes and other great apes have 24 pairs of chromosomes. In the human evolutionary lineage, two ... Human and chimpanzee chromosomes are very similar. The primary difference is that humans have one fewer pair of chromosomes ... Human evolutionary genetics Human chromosome 2 Human Genome Project Suntsova, M.V.; Buzdin, A.A. (2020-09-10). "Differences ... producing human chromosome 2. There are nine other major chromosomal differences between chimpanzees and humans: chromosome ...
CTNS is located on the p arm of human chromosome 17, at position 13.2. It spans base pairs 3,636,468 and 3,661,542, and ... The most common mutation is a 57,257 base pair deletion commonly referred to as the 57 kb deletion. This was formally known as ... Human models for cystinosin are typically derived from cystinotic renal tubular cell lines. Non-human protein homologs for ... GeneReviews/NCBI/NIH/UW entry on Cystinosis Human CTNS genome location and CTNS gene details page in the UCSC Genome Browser. ...
In humans common polymorphisms include the following: Rs6259, also called Asp327Asn location 7633209 on Chromosome 17, results ... Rs727428 position 7634474 is in several percent of humans. (TAAAA)(n) is five base pairs that repeats a variable number of ... Hryb DJ, Nakhla AM, Kahn SM, St George J, Levy NC, Romas NA, Rosner W (July 2002). "Sex hormone-binding globulin in the human ... In the womb the human fetus has a low level of SHBG allowing increased activity of sex hormones. After birth, the SHBG level ...
... is a protein located on human chromosome 17 that in humans is encoded by the PRR29 gene. It is also commonly known as ... The gene has a size of 5961 base pairs and contains five exons. PRR29 is located on the long arm of chromosome 17 (17q23.3), ... "C21orf58 chromosome 21 open reading frame 58 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2016-04-28 ... The gene spans 5961 base pairs and is oriented on the plus strand. Genes SNHG25 and LOC105371858 neighbor PRR29 on chromosome ...
Rs727428 position 7634474 is in several percent of humans.[16]. (TAAAA)(n) is five base pairs that repeats a variable number of ... In humans common polymorphisms include the following: Rs6259, also called Asp327Asn location 7633209 on Chromosome 17, results ... The gene for SHBG is called Shbg located on chromosome 17[11] on the short arm between the bands 17p12→p13.[12] Overlapping on ... Hryb DJ, Nakhla AM, Kahn SM, St George J, Levy NC, Romas NA, Rosner W (July 2002). "Sex hormone-binding globulin in the human ...
... is located at 15q11.2 on chromosome 15 in humans and is transcribed from the reverse DNA strand. POTEB is also known as ... The POTEB gene is 47,547 base pairs in length and is composed of 11 exons. The POTEB gene can be transcribed to create four ... POTEB has 8 predicted paralogs (According to protein sequence) in humans, with most paralogs being located on different human ... "Selective POTE paralogs on chromosome 2 are expressed in human embryonic stem cells". Stem Cells and Development. 17 (2): 325- ...
... spans 4,200 base pairs from 35,760,897 to 35,765,079. In humans, this gene encodes a protein that is 174 amino acids ... "C17orf50 chromosome 17 open reading frame 50 [ Homo sapiens (human) ]". NCBI. US National Library of Medicine. Retrieved 25 ... Uncharacterized protein C17orf50 is a protein which in humans is encoded by the C17orf50 gene. The gene is located on the long ... The promoter region for C17orf50 is 1417 base pairs long with an accession number of GXP_123003 from Genomatix. The first half ...
Chromosome 22 was chosen based on the results of the data collected from three clinical visits at the Framingham Heart Study. ... FAM227A is a protein that in humans is encoded by FAM227A gene. Current studies have determined the location of this gene to be ... The gene is 78,510 base pairs long with 21 exons. There are currently no aliases for FAM227A. There are two isoforms of FAM227A ... FAM227A is found on chromosome 22 at the location 22q13.1. It is flanked by the gene LOC105373031 on the left and CBY1 on the ...
... from base pair 119,022,962 to base pair 119,031,270 (Build GRCm38/mm10)(Map). Human homolog of M33, Chromobox homolog 2 (CBX2 ... is located on Chromosome 17, from base pair 79,777,188 to base pair 79,787,650(Build GRCh38.p2 )(Map). This protein contains ... In human ortholog CBX2, synonyms CDCA6, M33, SRXY5 from orthology source HGNC. M33 was isolated by means of the structural ... In humans, the mutations in this gene are also associated with gonadal dysgenesis. Compound heterozygous mutations in M33 were ...
Some sources claim its true size is around 3.5 billion base pairs (slightly larger than the human genome). To grow best, ... The sunflower, Helianthus annuus, genome is diploid with a base chromosome number of 17 and an estimated genome size of 2871- ... "Parastichy pair(13:21) of CYCAS REVOLUTA (male) florets_WebCite". Archived from the original on October 3, 2009. Vogel, H (1979 ... 17 November 2012. Camazine, Scott and Robert A. Bye (1980) A Study Of The Medical Ethnobotany Of The Zuni Indians of New Mexico ...
... gene structure predicts for an independently expressed member of an ITIM/ITAM pair of molecules localized to human chromosome ... "The gene encoding the immunoregulatory signaling molecule CMRF-35A localized to human chromosome 17 in close proximity to other ... CMRF35-like molecule 6 (CLM-6) also known as CD300 antigen-like family member C (CD300c) is a protein that in humans is encoded ... "Entrez Gene: CD300C CD300c molecule". Human CD300C genome location and CD300C gene details page in the UCSC Genome Browser. ...
... gene structure predicts for an independently expressed member of an ITIM/ITAM pair of molecules localized to human chromosome ... CD300A+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) CD300a, Bernholtz - The Possible ... Alvarez Y, Tang X, Coligan JE, Borrego F (2007). "The CD300a (IRp60) inhibitory receptor is rapidly up-regulated on human ... Overview of all the structural information available in the PDB for UniProt: Q9UGN4 (Human CMRF35-like molecule 8 (CD300A)) at ...
The SDHD gene is located on chromosome 11 at locus 11q23 and it spans 8,978 base pairs. There are pseudogenes for this gene on ... "A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter". Human ... GeneCards Human Gene Database. Retrieved 30 July 2018. Jackson CB, Nuoffer JM, Hahn D, Prokisch H, Haberberger B, Gautschi M, ... Hirawake H, Taniwaki M, Tamura A, Kojima S, Kita K (1997). "Cytochrome b in human complex II (succinate-ubiquinone ...
The COX5A gene, located on the q arm of chromosome 15 in position 24.1, is made up of 5 exons and is 17,880 base pairs in ... Cytochrome c oxidase subunit 5a is a protein that in humans is encoded by the COX5A gene. Cytochrome c oxidase 5A is a subunit ... Human COX5A genome location and COX5A gene details page in the UCSC Genome Browser. Mass spectrometry characterization of COX5A ... Rizzuto R, Nakase H, Zeviani M, DiMauro S, Schon EA (Sep 1988). "Subunit Va of human and bovine cytochrome c oxidase is highly ...
The CCDC47 gene itself is located on the minus strand of human chromosome 17 and contains 13 exon splice sites and 14 distinct ... In regards to the mRNA, translation begins at base pair 337 and ends at 1728. There is a strong stem loop located in the 5' UTR ... Coiled-coil domain 47 (CCDC47) is a gene located on human chromosome 17, specifically locus 17q23.3 which encodes for the ... Percent identity of human CCDC47 to a specific ortholog declines with increasing years of divergence, as expected. Homologous ...
from base pair 8,120,590 to 8,126,032. In mice, HES7 is located on chromosome 11. HES7 has 62 known orthologues. The HES7 gene ... The gene that encodes the human HES7 protein is 5kb long and is found on chromosome 17, on the short arm at position 13.1. ... Both the human and the mouse protein have been shown to contain 225 amino acids and feature an orange domain as well as a ... Each cycle of HES7 expression coincides with the formation of a pair of somites. The half life of the HES7 protein is thought ...
The SLC25A10 gene is located on the q arm of chromosome 17 in position 25.3 and spans 8,781 base pairs. The gene has 11 exons ... Pannone E, Fiermonte G, Dolce V, Rocchi M, Palmieri F (Mar 1999). "Assignment of the human dicarboxylate carrier gene (DIC) to ... The mitochondrial dicarboxylate carrier (DIC) is an integral membrane protein encoded by the SLC25A10 gene in humans that ... Solute carrier family GRCh38: Ensembl release 89: ENSG00000183048 - Ensembl, May 2017 "Human PubMed Reference:". National ...
... is a protein that in humans is encoded by the KRBA1 gene. It is located on the plus strand of chromosome 7 from ... The domain of function is the KRBA box which is predicted to start at base pair 7 and end at base pair 47. For motifs there was ... In humans, this gene is ubiquitously expressed at a fairly low level, approximately 0.6 times the expression of the average ... "KRBA1 protein (human) - STRING interaction network". version11.string-db.org. Retrieved 2020-05-02. Li Z, Wang D, Na X, Schoen ...
The gene is found on the minus end of Chromosome 7, on the long arm at position 7q36.1. The starting position of the gene is at ... It has 10,074 base pairs and has a total of 11 exons. TMEM176A and LOC105375566 is a neighbor of TMEM176B. The gene is found to ... Transmembrane Protein 176B, or TMEM176B is a transmembrane protein that in humans is encoded by the TMEM176B gene. It is ... "Aceview: Geneid:TMEM176B, A Comprehensive Annotation Of Human, Mouse And Worm Genes With Mrnas Or Estsaceview.". Ncbi.Nlm.Nih. ...
As this karyotype displays, a diploid human cell contains 22 pairs of homologous chromosomes and 2 sex chromosomes.. Section ... chromosomes." For example, the number of homologous sets of chromosomes in humans is 23 if one considers a "set" to be one pair ... Number of homologous pairs[edit]. The introduction states: a typical human somatic cell contains [...] 23 homologous chromosome ... What about the X chromosome and Y chromosome in male humans? By the definition they do not belong to any homologous set, since ...
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Mouse PubMed ... The NDUFAF8 gene is located on the q arm of chromosome 17 in position 25.3 and spans 1,987 base pairs. The gene produces a ... NADH:ubiquinone oxidoreductase complex assembly factor 8 is a protein that in humans is encoded by the NDUFAF8 gene. This ... Human) - NDUFAF8 gene & protein". www.uniprot.org. Retrieved 2018-07-27. Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng ...
The mRNA from human erythroblasts is ~1.4 kilobases long and the transcription start site in erythroid cells has been mapped to ... Glycophorin C (GPC) is a single polypeptide chain of 128 amino acids and is encoded by a gene on the long arm of chromosome 2 ( ... The phenotype is Ge:-2,-3,-4. The Yussef (Yus) phenotype is due to a 57 base pair deletion corresponding to exon 2. The antigen ... In a study of this gene among the Hominoidea two finding unique to humans emerged: (1) an excess of non-synonymous divergence ...
This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.. *v ... "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... Homeobox protein Hox-D8 is a protein that in humans is encoded by the HOXD8 gene.[5][6][7] ... Goodman FR (2003). "Limb malformations and the human HOX genes". Am. J. Med. Genet. 112 (3): 256-65. doi:10.1002/ajmg.10776. ...
The institute is also the first develop a test to detect chromosome translocations in human embryos to increase the success ... 2009 First Paired Kidney Exchange in New Jersey Performed, Family Health Magazine, Spring/Summer 2006 - accessed July 11, 2009 ... Human cloning is a long way off, but bioengineered kids are already here, Washington Monthly, March 2002 - accessed July 11, ... The division performed the first paired kidney exchange in New Jersey at Saint Barnabas Medical Center in 2005. Over time, it ...
They are usually found in pairs (diplococci) and do not form spores and are nonmotile.[2] As a significant human pathogenic ... For a bacterium to bind, take up, and recombine exogenous DNA into its chromosome, it must enter a special physiological state ... The genome of S. pneumoniae is a closed, circular DNA structure that contains between 2.0 and 2.1 million base pairs depending ... pneumoniae can be found in the human upper respiratory system. A study of competition in vitro revealed S. pneumoniae ...
When adenine is deaminated, it becomes hypoxanthine, which can pair with cytosine. During replication, the cytosine will pair ... It further contends that only a minority of the genetic material is kept in circular chromosomes while the rest is in branched ... but not human mtDNA).[21] ... Hypoxanthine can bind to cytosine, and when the XC base pair is ... Chloroplast DNAs are circular, and are typically 120,000-170,000 base pairs long.[4][7][8] They can have a contour length of ...
... except that the sequences at these loci may differ between the two chromosomes in a matching pair and that a few chromosomes ... For organisms in which the male is heterogametic, such as humans, almost all X-linked genes are hemizygous in males with normal ... chromosomes because they have only one X chromosome and few of the same genes are on the Y chromosome. Transgenic mice ... A chromosome in a diploid organism is hemizygous when only one copy is present.[2] The cell or organism is called a hemizygote ...
Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene.[5] ... Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... Poleev A, Fickenscher H, Mundlos S, Winterpacht A, Zabel B, Fidler A, Gruss P, Plachov D (November 1992). "PAX8, a human paired ... Members of this gene family typically encode proteins which contain a paired box domain, an octapeptide, and a paired-type ...
... is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6 (not to be ... 1 million base pairs centromeric from DQ2.5 may also be associated with Type 1 diabetes. In addition the BAT1 and MICB variant ... These unique chromosomes are produced by recombination of each unique chromosome passed by each grandparent to each parent. ... At 4.7 million nucleotides in length, A1::DQ2 is the second longest haplotype identified within the human genome.[1] A1::DQ2 ...
By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... "American Journal of Human Genetics. 64 (1): 225-31. doi:10.1086/302198. PMC 1377721. PMID 9915962.. ... Van Den Berghe, Pierre L (2010). "Human inbreeding avoidance: Culture in nature". Behavioral and Brain Sciences. 6: 91-102. doi ... HumansEdit. See also: Incest, Incest taboo, Pedigree collapse, and Cousin marriage ...
... so each human chromosome can be identified by a characteristic color using whole-chromosome probe mixtures and a variety of ... Each probe for the detection of mRNA and lncRNA is composed of 20 oligonucleotide pairs, each pair covering a space of 40-50 bp ... The chromosomes can be seen in blue. The chromosome that is labeled with green and red spots (upper left) is the one where the ... Then, an interphase or metaphase chromosome preparation is produced. The chromosomes are firmly attached to a substrate, ...
Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the PSEN1 gene.[5] Presenilin-1 is one of the four ... Kang DE, Soriano S, Xia X, Eberhart CG, De Strooper B, Zheng H, Koo EH (September 2002). "Presenilin couples the paired ... "Genetic linkage evidence for a familial Alzheimer's seasesease locus on chromosome 14". Science. 258 (5082): 668-71. Bibcode: ... Tanahashi H, Tabira T (February 1999). "Isolation of human delta-catenin and its binding specificity with presenilin 1". ...
Sigurdsson S, Van Komen S, Petukhova G, Sung P (Nov 2002). "Homologous DNA pairing by human recombination factors Rad51 and ... condensed chromosome. • nuclear chromosome, telomeric region. • nucleus. • nuclear chromatin. • lateral element. • cytosol. • ... nuclear chromosome. • mitochondrial matrix. • nucleolus. • mitochondrion. • perinuclear region of cytoplasm. • chromatin. • ... condensed nuclear chromosome. • macromolecular complex. Biological process. • regulation of protein phosphorylation. • strand ...
V. faba has a diploid (2n) chromosome number of 12 (six homologous pairs). Five pairs are acrocentric chromosomes and one pair ... It is of uncertain origin[1]:160 and widely cultivated as a crop for human consumption. It is also used as a cover crop, the ... In much of the English-speaking world, the name "broad bean" is used for the large-seeded cultivars grown for human food, while ... might frown on human consumption. But in Liguria, a maritime region near northern Italy, fava beans are loved raw, and consumed ...
... 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 ... 17: 387-399.. *^ Kukekova, A.V.; Trut, L.N.; Chase, K.; Shepeleva, D.V.; Vladimirova, A.V.; Kharlamova, A.V.; Oskina, I.N.; ...
... usually have a single circular chromosome,[129] with as many as 5,751,492 base pairs in Methanosarcina acetivorans,[130 ... making up about one in ten of all the prokaryotes in the human gut.[197] In termites and in humans, these methanogens may in ... Circular chromosomes, similar translation and transcription to Eukarya. Circular chromosomes, unique translation and ... after the cell's chromosome is replicated and the two daughter chromosomes separate, the cell divides.[154] In the genus ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... See also: Category:Genes on human chromosome 16.. The following is a partial list of genes on human chromosome 16. For complete ... "Chromosome 16". Genetics Home Reference. Retrieved 2017-05-06.. *. "Chromosome 16". Human Genome Project Information Archive ... Human chromosome 16 pair after G-banding.. One is from mother, one is from father. ...
... each human diploid cell (containing 23 pairs of chromosomes) has about 1.8 meters of DNA; wound on the histones, the diploid ... This involves the wrapping of DNA around nucleosomes with approximately 50 base pairs of DNA separating each pair of ... of the human genome in five human cell lines". Genome Research. 17 (6): 691-707. doi:10.1101/gr.5704207. PMC 1891331. PMID ... is a transcription factor which activates histone gene transcription on chromosomes 1 and 6 of human cells. NPAT is also a ...
Genetically, there are 74 diploid chromosomes (36 pairs). Appearance[edit]. The crab-eating fox is predominantly greyish-brown ... its habitat is slowly shrinking due to human activity such as agriculture, as well as feral dogs' encroachment on its territory ... The adult female gives birth to one or two litters per year, and the breeding pair is monogamous. The pair ranges the plains ... It either hunts individually or lives in pairs; it eats crabs, lizards and different flying animals. It is easy to domesticate ...
Likewise, gray wolf Y-chromosomes have also been found in a few individual male Texan coyotes.[11] This study suggested that ... By late 2012, it was estimated that there were at least 75 wolves and four breeding pairs living in the recovery areas, with 27 ... The Mexican wolf persisted longer in Mexico, as human settlement, ranching and predator removal came later than in the ... A pair of Mexican wolves with pups at Sevilleta Wolf Management Facility in Socorro, New Mexico ...
Pu'er with chrysanthemum is the most common pairing, and referred as guk pou or guk bou (菊普; Cantonese Yale: guk1 pou2; pinyin ... Larger specimens of this shape are sometimes called "human-head tea" (人頭茶), due in part to its size and shape, and because in ... This notion has recently been refuted through a systematic chromosome analysis of the species attributed to many East Asian ... Wild trees (gŭshù, 古树; literally "old tree"): Teas from old wild trees, grown without human intervention, are the highest ...
Crosland, M.W.J., Crozier, R.H. Myrmecia pilosula, an ant with only one pair of chromosomes. Science. 1986, 231 (4743): 1278. ... Ijdo, J. W., Baldini, A., Ward, D. C., Reeders, S. T., & Wells, R. A. Origin of human chromosome 2: an ancestral telomere- ... 選擇可以作用在基因而非個體的層級,即使降低個體的適應度,自私DNA仍然可以演化,造成基因組內部衝突。例子包括跳躍子、減數分裂驅動者(meiotic drivers)、殺手X染色體(killer X chromosomes)、自私粒線體(
Genes on human chromosome 11. *Genes on human chromosome 14. *Genes on human chromosome 20 ... In 1943, with the help of Arda Green, the pair illustrated that glycogen phosphorylase existed in either the a or b forms ... The cloning of the human liver glycogen phosphorylase (HLGP) revealed a new allosteric binding site near the subunit interface ... Voet, Judith G.; Voet, Donald (1995). "Chapter 17: Glycogen Metabolism". Biochemistry (2nd ed.). New York: J. Wiley & Sons. ...
This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.. *v ... "Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for ... "AIDS Research and Human Retroviruses. 6 (3): 371-80. doi:10.1089/aid.1990.6.371. PMID 2187500.. ... Human GAA genome location and GAA gene details page in the UCSC Genome Browser. ...
HumansEdit. Humans are bilaterals and deuterostomes. In humans, the term embryo refers to the ball of dividing cells from the ... Pair-rule genes define 7 segments of the embryo within the confines of the second broad segment that was defined by the gap ... Thus, a fly whose chromosomes are mutant in both copies of the Bicoid gene but who is born from a mother carrying one normal ... As of today, human embryology is taught as a cornerstone subject in medical schools, as well as in biology and zoology programs ...
"MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice". ... Yi W, Wu X, Lee TH, Doggett NA, Her C (Jul 2005). "Two variants of MutS homolog hMSH5: prevalence in humans and effects on ... Her C, Wu X, Griswold MD, Zhou F (Feb 2003). "Human MutS homologue MSH4 physically interacts with von Hippel-Lindau tumor ... Räschle M, Dufner P, Marra G, Jiricny J (Jun 2002). "Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha ...
"A Y Chromosome Census of the British Isles" (PDF).. *^ Härke, Heinrich; Thomas, Mark G; Stumpf, Michael P H. "Integration ... earthsky.org/human-world/jawbone-is-earliest-evidence-of-modern-humans-in-europe ... The Acts of Union between the Kingdom of England and the Kingdom of Scotland were a pair of Parliamentary Acts passed by both ... "Y Chromosome Evidence for Anglo-Saxon Mass Migration".. *^ " ... Continuous human habitation in England dates to around 13,000 ...
... chromosome translocation in a human leukemia T-cell line indicates that putative regulatory regions are not altered". Proc. ... 3.2) Paired box. PAX (1, 2, 3, 4, 5, 6, 7, 8, 9) ... to the human c-myc oncogene; presence of a long inverted repeat ... Astrin SM, Laurence J (1992). "Human immunodeficiency virus activates c-myc and Epstein-Barr virus in human B lymphocytes". Ann ... 17) • MTF1 • MYT1 • OSR1 • SP (1, 2, 4, 7) • WT1 • Zbtb7 (7A, 7B) • ZBTB (16, 17, 20, 32, 33, 40) • cink prst (3, 7, 9, 10, 19 ...
"Final report on the human rights situation of the Roma, Sinti and travellers in Europe". The European Commissioner for Human ... "Y CHROMOSOME SINGLE NUCLEOTIDE POLYMORPHISMS TYPING BY SNaPshot MINISEQUENCING" (PDF). Bjmg.edu.mk. Retrieved 20 December 2016. ... and art present romanticized narratives of mystical powers of fortune telling or irascible or passionate temper paired with an ... European Journal of Human Genetics. 9 (2): 97-104. doi:10.1038/sj.ejhg.5200597. PMID 11313742. Archived from the original (PDF) ...
Modern Human Origins, and Complex Disease Mapping, Annual Review of Genomics and Human Genetics" (pdf). 9. Retrieved December ... In the 2003 PBS programme African American Lives, Bishop T.D. Jakes had his DNA analyzed; his Y chromosome showed[dubious - ... Igbo women were paired with Coromantee (Akan) men to subdue the men because of the belief that the women were bound to their ... Institute for the Study of Human Issues.. *^ ". Chisholm, Hugh, ed. (1911). "Ibo". Encyclopædia Britannica. 14 (11th ed.). ...
... a minimal reference phylogeny for the human Y chromosome". Human Mutation. 35 (2): 187-91. doi:10.1002/humu.22468. PMID ... Position (base pair): 180. Total size (base pairs): 366. Forward 5′→ 3′: aactcttgataaaccgtgctg. Reverse 5′→ 3′: ... a b c The Y Chromosome Consortium 2008 *^ a b c d e f g Cristofaro; et al. (2013). "Afghan Hindu Kush: Where Eurasian Sub- ... 2004). "Excavating Y-chromosome haplotype strata in Anatolia". Human Genetics. 114 (2): 127-48. doi:10.1007/s00439-003-1031-4. ...
"The Y Chromosome Pool of Jews as Part of the Genetic Landscape of the Middle East". The American Journal of Human Genetics. 69 ... that overlies Druze and Cypriot samples but not samples from other Levantine populations or paired Diaspora host populations. ... "American Journal of Human Genetics. 86 (6): 850-9. doi:10.1016/j.ajhg.2010.04.015. PMC 3032072. PMID 20560205.. ... "European Journal of Human Genetics. 15 (4): 498-500. doi:10.1038/sj.ejhg.5201764. PMID 17245410.. ...
Chromosome 17 spans more than 81 million base pairs and represents between 2.5 and 3% of the total DNA in normal diploid cells. ... The designation for each member of the seventeenth largest human autosomal chromosome pair. ... The designation for each member of the seventeenth largest human autosomal chromosome pair. Chromosome 17 spans more than 81 ... Olfactory receptor gene cluster on human chromosome 17: possible duplication of an ancestral receptor repertoire. ...
Gilbert F (1998). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 17". Genet Test. 2 (4): 357-81. ... Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e. ... G-bands of human chromosome 17 in resolution 850 bphs[17] Chr. Arm[18] Band[19] ISCN. start[20] ISCN. stop[20] Basepair. start ... Wikimedia Commons has media related to Human chromosome 17.. *. National Institutes of Health. "Chromosome 17". Genetics Home ...
... this pattern is believed to represent polysomy of chromosome 17. HER2-amplified cancers have been shown t … ... of breast cancers show increased copy numbers of chromosome 17 centromere (CEP17) by fluorescence in situ hybridization (FISH ... Chromosomes, Human, Pair 17* * Comparative Genomic Hybridization * Female * Gene Amplification * Gene Expression Regulation, ... Our results suggest that true chromosome 17 polysomy is likely to be a rare event in breast cancer and that CEP17 copy number ...
Follow-up studies involving three additional case-control groups replicated an association of two variants on chromosome … ... Chromosomes, Human, Pair 17* * Diabetes Mellitus, Type 2 / genetics* * Genetic Predisposition to Disease ... Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes Nat Genet. 2007 ... Follow-up studies involving three additional case-control groups replicated an association of two variants on chromosome 17 ...
Using radiation hybrid panels, the CAG/CTG repeat was mapped to chromosome 17q. The CAG/CTG repeat is hig ... we cloned a novel long CAG/CTG trinucleotide repeat on chromosome 17. ... Chromosome Mapping / methods. Chromosomes, Human, Pair 17 / genetics*. Genes, Dominant. Humans. Molecular Sequence Data. ... Next Document: Cloning, expression, and chromosomal localization of human long-chain fatty acid-CoA ligase 4 (FACL4.... ...
Chromosome Aberrations. Chromosomes, Human, Pair 17 / genetics*. Female. Gene Amplification. Humans. Immunohistochemistry. In ... Previous Document: Phosphocreatine recovery overshoot after high intensity exercise in human skeletal muscle is associa.... ... As in invasive breast carcinomas Her-2 overexpression has been related to an increased number of chromosome 17 copies, a common ... Her-2 immunohistochemical expression in oral squamous cell carcinomas is associated with polysomy of chromosome 17, not Her-2 ...
Chromosomes, Human, Pair 17 / genetics* * Female * Genome-Wide Association Study * Genotype * Humans ... Association between WMHV and 6 single-nucleotide polymorphisms at chromosome 17q25 was assessed by linear regression. These ...
Human beings normally have 46 chromosomes in 23 matching pairs. We inherit half of our chromosomes from our mothers, half from ... 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 ... strung together in pairs to form an extremely long chain, known as a chromosome. ...
... base pairs) and represents between 2.5 and 3 percent of the total DNA in cells. Learn about health implications of genetic ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 17, one copy inherited from ... Ensembl Human Map View. *Gilbert F. Disease genes and chromosomes: disease maps of the human genome. Chromosome 17. Genet Test ... Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a ...
Chromosomes, Human, Pair 17 62% 32 Citations (Scopus) * Test of BREEAM, DGNB, HQE and LEED on two Danish office buildings. ... Vestergaard, A. L., 2011, In: Ungdomsskolen. 17, 1, p. 14-15 2 p.. Research output: Contribution to journal › Journal article ... 17 p.. Research output: Contribution to conference without publisher/journal › Paper without publisher/journal › Communication ... Min, H., Oct 2011, Aalborg: Institut for Kultur og Globale Studier, Aalborg Universitet, 17 p.. Research output: Working paper ...
Chromosomes, Human, Pair 13 - genetics Chromosomes, Human, Pair 9 - genetics Genes, Recessive Genetic Linkage Humans Phenotype ... Chromosomes, Human, Pair 11 - genetics Chromosomes, Human, Pair 9 - genetics Female Finland Genetic markers Genetic ... Chromosomes, Human, Pair 9 - genetics Cohort Studies DNA Mutational Analysis De Lange Syndrome - genetics Female Humans Male ... Chromosome Mapping Chromosomes, Human, Pair 9 - genetics Comorbidity Genetic Linkage Genetic markers Genetic Predisposition to ...
Humans typically have 23 pairs of chromosomes.. *chromosome 17q21 (FTDP-17): The chromosome that contains the gene for making ... Refers to any of the 22 paired chromosomes, or the genes on them, that are not the X or Y sex-determining chromosomes. ... disease-causing gene mutation on one chromosome of a pair and a normal allele at the same spot on the other matching chromosome ... base pair: Each base pair forms a "rung of the DNA ladder." They are the "letters" that spell out the genetic code; the ...
Categories: Chromosomes, Human, Pair 17 Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ...
... is one of the 23 pairs of [[chromosome]]s in [[human]]s. People normally have two copies of this chromosome. Chromosome 17 ... human_chromosome_images/links/5459f7ff0cf2cf516483fffd/Estimation-of-band-level-resolutions-of-human-chromosome-images.pdf}},/ ... Infobox chromosome , image = Human male karyotpe high resolution - Chromosome 17 cropped.png , caption = Human chromosome 17 ... Disease genes and chromosomes: disease maps of the human genome. Chromosome 17 , journal=Genet Test , year=1998 , pages=357-81 ...
New research shows how the X and Y chromosomes evolved from a pair of regular chromosomes 300 million years ago. ... Scientists expose the X chromosomes complete genetic sequence. ... Drafting a Genetic Map of Human Diversity Feb. 17, 2005 Gene ... New research shows how the X and Y chromosomes evolved from a pair of regular chromosomes 300 million years ago. ... New research shows how the X and Y chromosomes evolved from a pair of regular chromosomes 300 million years ago. ...
How many pairs of chromosomes does the human body have in its cells ... In a parent cell with two chromosomes, each chromosome replicates itself. the chromosomes line up along the centre of the cell ... 3-The effect of cloning on a humans mental and emotional development isnt known.. 4-Religious views say that cloning humans ... To produce a required substance: e.g. the gene for human insulin can be inserted into bacteria to make insulin on a large scale ...
Gilbert F (1998). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 17". Genet Test. 2 (4): 357-81. ... Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 17: entries, gene ... The following is a partial list of genes on human chromosome 17. For complete list, see the link in the infobox on the right. ... The following are some of the gene count estimates of human chromosome 17. Because researchers use different approaches to ...
Chromosome 16 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. ...
Chromosomes, Human, Pair 1/*genetics (3) Chromosomes, Human, Pair 17/*genetics (3) ... Whole-arm chromosome translocations involving the long arm of chromosome 1 are nonrandom aberrations in hematologic ... Among them, unbalanced whole-arm translocations between chromosomes 1 and 13 are relatively rare cytogenetic aberrations and ...
There is a race going on to lower the cost human gene sequencing to a level of a comprehensive battery of blood tests. The ... called chromosomes. These strands are paired, connected side to side along their lengths. Humans have 23 pairs of chromosomes. ... These strands are paired, connected side to side along their lengths. Humans have 23 pairs of chromosomes. www.Options-Trading- ... The human genome is the sum total of all human genes.Human genes are present on long strands of DNA (complex molecules) called ...
Human Y chromosomeEdit. In humans, the Y chromosome spans about 58 million base pairs (the building blocks of DNA) and ... Stevens proposed that chromosomes always existed in pairs and that the Y chromosome was the pair of the X chromosome discovered ... Human Y-chromosome DNA haplogroup. The human Y chromosome is normally unable to recombine with the X chromosome, except for ... The DNA in the human Y chromosome is composed of about 59 million base pairs.[5] The Y chromosome is passed only from father to ...
... of the 23 chromosome pairs in the human genome); elevated levels of the protein for which it codes were found in the white ... The gene, known as ORMDL3, is located on chromosome 17 ( ...
For instance, the largest human chromosome, chromosome number 1, is 220 million base pairs long.[17] ... The set of chromosomes in a cell makes up its genome. The human genome has approximately 3 billion base pairs of DNA arranged ... The GC base pair is therefore stronger than the AT base pair. As a result, it is both the percentage of GC base pairs and the ... and in human cells the different chromosomes even occupy separate areas in the nucleus called "chromosome territories."[105] ...
Every chromosome pair had a least one rearrangement. No normal X chromosomes were observed and Y chromosomes were absent by QM ... This is a hyper-triploid human cell line with a modal chromosome number of 75. Homogeneously staining regions and dicentric ... No normal X chromosomes were observed and Y chromosomes were absent by QM staining. Normal copies of chromosomes 2,6,11,13,16 ... a chromosome break in 3/30, a chromatid break in 5/30, a ring chromosome in 1/30, and double minutes in 11/30 (1-5 copies). ...
Chromosomes, Human, Pair 17. 1. 1991. 19. 0.130. Why? Coat Protein Complex I. 1 ...
Chromosomes, Human, Pair 17; Codon/genetics; Epithelial Cells; Epithelium/metabolism; Oligodeoxyribonucleotides/genetics; ... Female; Humans; Models, Biological; Polymerase Chain Reaction; Cell Line; Heterozygote; Cell Division; *Genes, p53; *Point ... selection of a cellular clone presenting a mutation at codon 179 of the p53 gene during establishment of the immortalized human ... selection of a cellular clone presenting a mutation at codon 179 of the p53 gene during establishment of the immortalized human ...
37.chromosomes, human, pair 17 8 ƪ5.333%. 38.cloning, molecular 8 ƪ5.333% ...
The human gene CCDC37 is found on chromosome 3 at the band 3q21.3. It extends from base pairs 90,403,731 to 90,429,231, making ... There is only one paralog for CCDC37 found in humans, CCDC38. CCDC38 is located on chromosome 12. The ortholog space of CCDC37 ... Coiled-coil domain-containing 37, also known as FLJ40083, is a protein that in humans is encoded by the CCDC37 gene (3q21.3). ... "CCDC37 coiled-coil domain containing 37 [Homo sapiens (human)] - Gene". Ncbi.nlm.nih.gov. Retrieved 2015-03-07. CS1 maint: ...
... general Forensic sciences Genetic aspects Gene mutation Diagnosis Physiological aspects Gene mutations Y chromosome ... Analysis of Mutation Rate of 17 Y-Chromosome Short Tandem Repeats Loci Using Tanzanian Father-Son Paired Samples.(Research ... On the combined use of slow and fast evolving polymorphic markers on the human Y chromosome," American Journal of Human ... 2] A. J. Redd, A. B. Agellon, V. A. Kearney et al., "Forensic value of 14 novel STRs on the human Y chromosome," Forensic ...
The X chromosome is entirely painted by the human X chromosome probe, but a faint signal is also visible on the Y chromosome ( ... and one chromosome for H. pamfi (right) per pair. Both XX chromosomes from H. walterverheyeni (left) and XY chromosomes from H ... For chromosome painting, chromosome preparations on slides were denatured at 75 °C for 5 min, and the human X chromosome ... pairs 1, 2, 3, 13 and chromosome X). C) Metaphase plate with CBG banding. X and Y chromosomes are labelled. D) Paired NOR- ...
  • Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction ). (wikipedia.org)
  • In 1999, science celebrated one of its greatest achievements, when Craig Venter of Celera Genomics and Francis Collins, director of the National Human Genome Research Institute announced that they had independently completed rough drafts of the sequence of the human genome. (cnn.com)
  • Sequencing the human genome meant sifting through the three billion pairs of molecule pairs that make up our chromosomes to find the genes themselves. (cnn.com)
  • What we did with sequencing the human genome,' Venter says, 'is leading to a better understanding of what causes disease. (cnn.com)
  • Disease genes and chromosomes: disease maps of the human genome. (wikipedia.org)
  • Human Genome Project Information Archive 1990-2003. (wikipedia.org)
  • The human genome is the sum total of all human genes. (slideshare.net)
  • The human genome contains roughly 23,000 pairs of proteins that code or produce proteins. (slideshare.net)
  • With a 30% difference between humans and chimpanzees, the Y chromosome is one of the fastest-evolving parts of the human genome . (wikipedia.org)
  • Plant material from one of the trees - UCG-17 Geisha - was used for developing the C arabica genome sequence. (dailyexcelsior.com)
  • As a result of that hybrid crossing, C arabica's complex genome has four sets of chromosomes - unlike many other plants and humans, which have only two chromosome sets. (dailyexcelsior.com)
  • Using sequencing technology, the researchers estimated that UCG-17 Geisha has a genome made up of 1.19 billion base pairs - about one-third that of the human genome. (dailyexcelsior.com)
  • Through the examination of the genome which is the closest living relatives to the human species? (brainscape.com)
  • ERVs make up 8% of the human genome, and that other primates also possess some of the same ERVs in exactly the same locations in their genomes. (brainscape.com)
  • This is because any retrovirus that became inserted into the genome of a common ancestor would be inherited by both chimpanzees and humans at exactly the same location in the chromosome. (brainscape.com)
  • Researchers from a consortium of 14 institutions, including the National Human Genome Research Institute (NHGRI), Johns Hopkins Medical Institutes and the Cleveland Clinic, reported for the first time in the February 2002 issue of Nature Genetics that they have identified a gene on chromosome 1 that shows an association with an inherited form of prostate cancer in some families. (genome.gov)
  • In essence,' Willard said, 'there is not one human genome, but two -- male and female. (latimes.com)
  • Scientists estimate that there may be as many as 30,000 genes in the chemical DNA blueprint for human growth and development known as the human genome. (latimes.com)
  • The study of this chromosome gives a clearer picture of how genome cha. (bio-medicine.org)
  • The complete sequencing of human chromosome 17 and mouse chromosome 11 offers unique insights into the evolution of the genome of higher mammals, said a Baylor College of Medicine researcher who participated in this effort reported in today's issue of the journal Nature. (bio-medicine.org)
  • However, scientists at Sanger dubbed a portion of chromosome 17 the Lupski segment because he has spent so much time dealing with that portion of the genome in his effort to identify gene mutations that result in disease. (bio-medicine.org)
  • The study of this chromosome gives a clearer picture of how genome changes through evolution, Lupski said. (bio-medicine.org)
  • Perhaps one way to evolve faster is not by making changes in base pairs (the chemicals that make up DNA), but by changing chunks of genome," said Lupski. (bio-medicine.org)
  • HOUSTON (March 17, 2005) If the human genome is indeed the "book of life," then the X-chromosome is all plot. (bio-medicine.org)
  • Large numbers of medically related genes happen to fall on the X," said Dr. Steven Scherer, associate professor in the Baylor College of Medicine department of molecular and human genetics and director of mapping in the BCM Human Genome Sequencing Center. (bio-medicine.org)
  • Although it contains a few important genes, it's almost like the appendix of the human genome. (bio-medicine.org)
  • Duplicated chromosome segments suggest that a genome duplication occurred in ray-fin phylogeny, and comparative studies suggest that this event happened deep in the ancestry of teleost fish. (zfin.org)
  • Despite genome duplication, zebrafish and humans have about the same number of chromosomes, and zebrafish chromosomes are mosaically orthologous to several human chromosomes. (zfin.org)
  • Meiotic recombination generates crossovers between homologous chromosomes that are essential for genome haploidization. (nature.com)
  • Humans show individual differences in the number of crossovers generated across the genome. (nature.com)
  • In humans, the number of crossovers occurring across the genome differs between individuals. (nature.com)
  • The exploration of the human genome has long been relegated to elite scientists in research laboratories. (nytimes.com)
  • Durham, N.C. The first comprehensive survey of gene activity in the X chromosomes of women has revealed an unexpected level of variation among individuals, according to new work by researchers at the Duke University Institute for Genome Sciences & Policy (IGSP) and Pennsylvania State University. (bio-medicine.org)
  • Willard said that the extensive variation in gene activity in the sex chromosomes means that, in essence, there is not one human genome, but two -- male and female. (bio-medicine.org)
  • 1. 'The human genome is 24 strings of base pairs representing the X and Y chromosomes and the 22 autosomes' this is a direct quote from Griffith et al 2008 p455. (biology-online.org)
  • 2. As pointed out by pbs.org/wgbh/nova/genome: A chromosome pair has identical banding. (biology-online.org)
  • A meta-analysis of four European genome screens (GIFT Consortium) shows evidence for a novel region on chromosome 17p11.2-q22 linked to type 2 diabetes. (ox.ac.uk)
  • By analyzing the differential expression of TOP2A in 50 pairs of tumor and paracancerous tissue samples in The Cancer Genome Atlas (TCGA) database, the present study revealed that the expression of TOP2A was significantly higher in tumor tissue compared with that in paracancerous tissue (P=6.319x10‑16). (spandidos-publications.com)
  • This research is conducted in relation to three samples within nine biological feature sub-sets extracted from DNA sequence patterns (Human genome database). (bl.uk)
  • As a result of generations of cross-species hybridization, the modern wheat genome is 17 Gb, has three nearly identical sub-genomes, each of which consist of seven pairs of chromosomes and is riddled with repeated DNA sequences. (thermofisher.com)
  • Chromothripsis is a form of genome instability by which a presumably single catastrophic event generates extensive genomic rearrangements of one or a few chromosomes. (aacrjournals.org)
  • In this study, an analysis of chromothripsis in 252 human breast cancers from two patient cohorts (149 metastatic breast cancers, 63 untreated primary tumors, 29 local relapses, and 11 longitudinal pairs) using whole-genome and whole-exome sequencing reveals that chromothripsis affects a substantial proportion of human breast cancers, with a prevalence over 60% in a cohort of metastatic cases and 25% in a cohort comprising predominantly luminal breast cancers. (aacrjournals.org)
  • We present a method, called fingerprint profiling (FPP), that uses restriction digest fingerprints of bacterial artificial chromosome clones to detect and classify rearrangements in the human genome. (biomedcentral.com)
  • Our method has compelling potential for use as a whole-genome method for the identification and characterization of human genome rearrangements. (biomedcentral.com)
  • For example, in the case of end sequencing approaches that sample only the clone's termini, deeply redundant clone sampling would be required to approach coverage of the human genome. (biomedcentral.com)
  • Clone coverage of the human genome could then be achieved with only a small fraction of the clones required to achieve comparable genome coverage in clone end sequences. (biomedcentral.com)
  • THURSDAY, Nov. 5 (HealthDay News) -- The genome of the domestic horse has been sequenced, an accomplishment that will improve the breeding of horses and may help studies of human health, according to an international team of researchers. (bio-medicine.org)
  • By looking at the horse genome, we can better understand human biology and human diseases," James Murray, a professor of animal science at the University of California, Davis, said in a news release. (bio-medicine.org)
  • By studying the horse genome, it may be possible to increase understanding of these diseases in humans, Murray noted. (bio-medicine.org)
  • The researchers found that the horse genome is larger than the dog genome and smaller than the human and cow genomes. (bio-medicine.org)
  • The U.S. National Human Genome Research Institute has more about sequencing a genome . (bio-medicine.org)
  • HER2-amplified cancers have been shown to harbour complex patterns of genetic aberrations of chromosome 17, in particular involving its long arm. (nih.gov)
  • Whole-arm chromosome translocations involving the long arm of chromosome 1 are nonrandom aberrations in hematologic malignancies that commonly involve acrocentric chromosomes. (inist.fr)
  • Among them, unbalanced whole-arm translocations between chromosomes 1 and 13 are relatively rare cytogenetic aberrations and has been reported in both lymphoid and myeloid neoplasms. (inist.fr)
  • Analysis of Mutation Rate of 17 Y-Chromosome Short Tandem Repeats Loci Using Tanzanian Father-Son Paired Samples. (thefreelibrary.com)
  • Most of investigations have reported mutation rates for the minimal haplotype loci in different populations, but very few articles have reported results with the 17 Y-STRs loci mutation rates using African populations. (thefreelibrary.com)
  • Chromosome 17 likely contains 1,100 to 1,200 genes that provide instructions for making proteins. (medlineplus.gov)
  • These genes produce proteins which in turn carry out a large variety of often complex functions in the human body. (slideshare.net)
  • Within the chromosomes, chromatin proteins such as histones compact and organize DNA, which helps control its interactions with other proteins and thereby control which genes are transcribed. (newworldencyclopedia.org)
  • It is the same region of chromosome 17 that is abnormally copied (duplicated) in people with a 17q12 duplication (described below). (medlineplus.gov)
  • It is the same region of chromosome 17 that is deleted in people with 17q12 deletion syndrome (described above). (medlineplus.gov)
  • Cytogenetic analysis was conducted using two probes, one specific for the NF1 region (RP11-229K15) and one for the centromeric region of chromosome 17 as control. (elsevier.com)
  • Currently, this pattern is believed to represent polysomy of chromosome 17. (nih.gov)
  • Her-2 immunohistochemical expression in oral squamous cell carcinomas is associated with polysomy of chromosome 17, not Her-2 amplification. (biomedsearch.com)
  • An individual who has a recessive, disease-causing gene mutation on one chromosome of a pair and a normal allele at the same spot on the other matching chromosome. (ucsf.edu)
  • We studied the occurrence of a p53 mutation along passages stored as frozen vials during establishment of a nontumorigenic human mammary epithelial cell line HMT-3522. (cnrs.fr)
  • Human Y chromosome mutation rates by Larry Moran, Sandwalk blog, 1 September 2009. (isogg.org)
  • Willems T, Gymrek M, Poznik GD, Tyler-Smith S, The 1000 Genomes Project Y-Chromosome Working Group, Erlich Y. Population-scale sequencing data enable precise estimates of Y-STR mutation rates . (isogg.org)
  • The Y-chromosome point mutation rate in humans (letter). (isogg.org)
  • Human Mutation. (zfin.org)
  • The objective of this clinical-pathologic study was to identify biomarkers for a pallidopontonigral degeneration (PPND) kindred of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) harboring the N279K tau mutation. (elsevier.com)
  • The designation for each member of the seventeenth largest human autosomal chromosome pair. (semanticscholar.org)
  • During this study, buccal swab samples were collected from consented father-son paired samples whose biological relationship was confirmed by autosomal STRs using AmpFlSTR Identifiler kit [8]. (thefreelibrary.com)
  • Types Multiple gene disorder Depending on which type of chromosome is afected, they can be classified in Autosomal Sexual When the disease is related onto a no sexual chromosome Dominant Recesive Only one mutated copy of the gene will be necessary for a person to be affected by an autosomal dominant disorder. (prezi.com)
  • Neurofibromatosis type 1 (NF1) is a common autosomal dominant condition associated with germline mutations of the NF1 gene located at chromosome band 17q11.2. (elsevier.com)
  • Males have one Y chromosome and one X chromosome , while females have two X chromosomes. (wikipedia.org)
  • Of these, the 23rd pair is what determines our sex: Whereas females have two X chromosomes, males have one X chromosome and one Y chromosome. (livescience.com)
  • So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (wikipedia.org)
  • As in invasive breast carcinomas Her-2 overexpression has been related to an increased number of chromosome 17 copies, a common chromosomal alteration in OSCC, we evaluated the association between polysomy 17 and Her-2 protein expression in a series of primary OSCC. (biomedsearch.com)
  • Protein expression was evaluated immunochistochemically with CB11 mouse monoclonal anti-human antibody. (biomedsearch.com)
  • A gene on chromosome 19 involved in making a protein that helps carry cholesterol and other types of fat in the bloodstream. (ucsf.edu)
  • The chromosome that contains the gene for making the protein tau. (ucsf.edu)
  • Coiled-coil domain-containing 37, also known as FLJ40083, is a protein that in humans is encoded by the CCDC37 gene (3q21.3). (wikipedia.org)
  • CS1 maint: discouraged parameter (link) Weimann, M. A Y2H-seq approach defines the human protein methyltransferase interactome. (wikipedia.org)
  • [6] The human Y chromosome carries an estimated 100-200 genes, with between 45 and 73 of these protein-coding. (wikipedia.org)
  • Furin is a protein that in humans is encoded by the FURIN gene. (creativebiomart.net)
  • The synaptonemal complex is a 'zipper'-like protein assembly that synapses homologue pairs together and provides the structural framework for processing recombination sites into crossovers. (nature.com)
  • It is a leading source of vegetable protein in human food, has multiple health benefits, and is among the highest contributors to trade among all crops. (thermofisher.com)
  • The human GRB2 gene is telomeric to GGA3 (Golgi associated, gamma adaptin ear containing, ARF binding protein 3) and centromeric to ITGB4 (integrin, beta 4). (atlasgeneticsoncology.org)
  • We have evaluated the effects of human tau protein injected directly into the presynaptic terminal axon of the squid giant synapse, which affords functional, structural, and biochemical analysis of its action on the synaptic release process. (frontiersin.org)
  • Employing yeast two-hybrid screening of a human embryonic kidney cDNA library with the carboxyl-terminal cytoplasmic domain of the AT1 receptor as a bait, we have isolated EP24.15 (EC 3.4.24.15, thimet oligopeptidase) as a potentially interacting protein. (embl.de)
  • The chemokine receptor 5 (CKR5) protein serves as a secondary receptor on CD4 + T lymphocytes for certain strains of human immunodeficiency virus-type 1 (HIV-1). (sciencemag.org)
  • People normally have two copies of this chromosome. (wikipedia.org)
  • Two copies of chromosome 17, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 17. (medlineplus.gov)
  • This chromosome segment is prone to rearrangement during cell division, which can lead to extra or missing copies of DNA at 17q12. (medlineplus.gov)
  • The following structural rearrangements were observed in 30 metaphases: an acentric fragment in 2/30 metaphases, a minute in 3/30, a chromosome break in 3/30, a chromatid break in 5/30, a ring chromosome in 1/30, and double minutes in 11/30 (1-5 copies). (atcc.org)
  • There are two copies of every gene in the body (except for the sex chromosomes in men): one copy of a gene is inherited from the mother and one copy of the gene is inherited from the father. (genome.gov)
  • Trisomy means that there are three copies, not two, of one of the pairs. (danielwillingham.com)
  • Three copies of the 21st chromosome is Trisomy-21, also called Downs Syndrome. (danielwillingham.com)
  • Three copies of the 18th chromosome give you Trisomy-18, also called Edwards Syndrome. (danielwillingham.com)
  • For decades, biologists have also known that cancer cells often have too few or too many copies of some chromosomes, a state known as aneuploidy. (news-line.com)
  • Extra copies of the sex chromosomes can cause various disorders but are not usually lethal. (news-line.com)
  • In sexually reproducing organisms, each gene in an individual is represented by two copies, called alleles -one on each chromosome pair. (creationwiki.org)
  • Humans carry two copies of each gene, one of which is inherited from the mother and one from the father. (hhmi.org)
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
  • The researchers reported an association between changes in a gene on chromosome 1 called ribonuclease L, or RNASEL, and an increased risk of developing prostate cancer in men from some families with a history of the disease. (genome.gov)
  • Until now, researchers considered the shuffle of sex chromosomes at conception a simple matter of genetic roulette. (latimes.com)
  • Researchers were surprised that they found so many unexpected differences in the behavior of the one sex chromosome that men and women share. (latimes.com)
  • Though there is dramatic variation in the activation of genes on the X chromosomes that women inherit, there is none among those in men, the researchers reported. (latimes.com)
  • The researchers found that the X chromosome, though relatively poor in genes, is rich in influence, deceptively subtle, and occasionally deadly to males. (latimes.com)
  • The sequencing of chromosome 17 and mouse chromosome 11 was an international effort involving researchers from around the globe. (bio-medicine.org)
  • This number was less than expected, leading the researchers to believe human evolution happens more slowly than previously thought. (slashdot.org)
  • To test their theory, the researchers conducted 18 simulations in which they created different scenarios for the bottleneck that included factors such as Y chromosome mutations, competition between groups, and death. (livescience.com)
  • In the same issue of Nature, more than 250 researchers including Willard and Carrel, reported the complete DNA sequence of the human X chromosome. (bio-medicine.org)
  • The genetic testing enhancement was reported in the February 17, 2000, Nature by researchers led by Vogelstein and Hopkins colleagues, Hai Yan, an HHMI associate, and Kenneth Kinzler. (hhmi.org)
  • The conversion technique involves fusing human cells possibly containing a defective gene with a special strain of mouse cells developed by the researchers. (hhmi.org)
  • 17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell. (medlineplus.gov)
  • Most people with 17q12 deletion syndrome are missing about 1.4 million DNA building blocks (base pairs), also written as 1.4 megabases (Mb), on the long (q) arm of the chromosome at a position designated q12. (medlineplus.gov)
  • Our mouse enhancer assays characterized three mouse brain enhancers that overlap an ASD-associated deletion and four mouse enhancers that reside in regions implicated in human evolution, two of which are active in the brain. (prolekare.cz)
  • This chromosome segment is surrounded by short, repeated sequences of DNA that make it prone to rearrangement during cell division. (medlineplus.gov)
  • But as the science has developed it has become possible to take a gene from one species and put it into an entirely different species in order to manipulate its characteristics and make it more useful to humans. (cnn.com)
  • Y is normally the sex-determining chromosome in many species , since it is the presence or absence of Y that typically determines the male or female sex of offspring produced in sexual reproduction . (wikipedia.org)
  • The experimentation with the DNA strands from different species suggests an increasing genetic distance between humans and the other primate groups as one progresses from chimpanzees, to gorillas, to orang-utans, to gibbons and to Old World monkeys. (brainscape.com)
  • For example, breaks in synteny or the maintenance of the order of genes between species coincide with changes in the architecture of the chromosome itself. (bio-medicine.org)
  • The genus Helicobacter includes bacterial species which colonizes the gastrointestinal tract (GIT) of human and other mammals. (hindawi.com)
  • In humans, the two genes encoding nonmuscle myosin heavy chains (NMHCs) are located on different chromosomes ( NMHC-A on 22q11.2 and NMHC-B on 17p13) ( 3 , 4 ) and, in a variety of species, these genes are expressed in a tissue-specific ( 5 - 7 ) and differentiation-dependent ( 8 - 10 ) manner. (pnas.org)
  • Because offspring inherit one chromosome from each parent, genes usually get shuffled around, increasing the diversity across species. (livescience.com)
  • Human species has in total 46 chromosomes, which are grouped into 23 pairs, each pair consisting of one chromosome from our mother and one from our father. (prezi.com)
  • Human malaria is a complex infectious disease caused by protozoan parasites (Plasmodium species). (thefreelibrary.com)
  • The differences in patterns of variation among Y-chromosome, mtDNA and biparental microsatellites reflect the evolutionary characteristics of the different markers as well as the effects of sex-biased dispersal and species phylogeography. (biomedcentral.com)
  • They line chromosome profiles up- side by side, cut and paste, focus on tinier sections, and find similarities of position between inherited conditions in comparable species. (massapequapost.com)
  • 1998. 'Evolution of chromosome Y in primates. (answers.com)
  • Do the YSTR haplotypes in some Y chromosome male lines mutate faster than in other male lines? (isogg.org)
  • Within Rupicapra , the combined data define 10 Y-chromosome haplotypes forming two haplogroups, which concur with taxonomic classification, instead of the three clades formed for mtDNA and nuclear microsatellites. (biomedcentral.com)
  • E ditor -The process of X chromosome inactivation was identified as early as 1960 when Ohno and Hauschka 1 described the presence of a pyknotic X chromosome in both benign and malignant cell lines. (bmj.com)
  • Mary Lyon formalised the role of X inactivation and its relationship to dosage compensation of X chromosome genetic material in a letter to Nature in 1961. (bmj.com)
  • While the Lyon hypothesis dictates that the X inactivation process is random, skewing of this process to the point of non-random X chromosome inactivation is a known mechanism associated with the development of X linked genetic diseases in females. (bmj.com)
  • Our laboratory has been interested in the association of non-random X chromosome inactivation (NRXI) with ovarian cancer. (bmj.com)
  • The gold standard for assessment of X chromosome inactivation status has been an evaluation of the androgen receptor (AR) gene polymorphism(s). (bmj.com)
  • The X chromosome inactivation mechanism results in site specific cytosine methylation of the inactive chromosome. (bmj.com)
  • The majority of papers relating to X chromosome inactivation use the AR model. (bmj.com)
  • The discovery of mutations within the tau gene itself that cause clinical dementia (i.e., fronto-temporal dementia with Parkinsonism linked to chromosome 17 [FrDP17]) demonstrated that disruption of normal tau function independent of amyloidogenesis was sufficient to cause neuronal loss and clinical dementia. (elsevier.com)
  • But the Y chromosome, having no female counterpart, doesn't get shuffled, so it stays pretty much the same from grandfather to father to son (save for any mutations that occur, which explains why the Y chromosome does differ among males). (livescience.com)
  • X-linked dominant disorders are caused by mutations in genes on the X chromosome. (prezi.com)
  • Exceptions to this finding are extremely rare cases in which boys with Klinefelter syndrome (47,XXY) also inherit an X-linked dominant condition and exhibit symptoms more similar to those of a female in terms of disease severity RECEssIVE X-linked recessive conditions are also caused by mutations in genes on the X chromosome. (prezi.com)
  • Y linked Y-linked disorders are caused by mutations on the Y chromosome. (prezi.com)
  • Gene expression can occur in specialized transcriptional factories where chromatin segments may loop out from various chromosome territories, leading to co-localization of DNA segments which may exist on different chromosomes or far apart on the same chromosome. (jove.com)
  • Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. (semanticscholar.org)
  • The opinion in Association for Molecular Pathology v. Myriad Genetics, Inc. striking down patents on naturally occurring human genes, even if they've been isolated. (groklaw.net)
  • Does chromosome 17 centromere copy number predict polysomy in breast cancer? (nih.gov)
  • This ploidy reduction is achieved through a series of meiosis-specific events, including pairing, synapsis, crossover formation between homologues, suppression of sister centromere separation during the first (reductional) division and separation of sister chromatids during the second (equational) division. (nature.com)
  • The scientists also found an evolutionary new centromere on horse chromosome 11. (bio-medicine.org)
  • Chromosome 17 spans more than 83 million base pairs (the building material of DNA ) and represents between 2.5 and 3% of the total DNA in cells . (wikipedia.org)
  • Chromosome 16 spans about 90 million base pairs (the building material of DNA) and represents just under 3% of the total DNA in cells . (wikipedia.org)
  • It contains four possible PEST sequence at amino acids 17-36, 293-304, 337-360, and 360-395. (wikipedia.org)
  • The team produced the first complete sequence of the X chromosome about two years after the decoding of the male Y chromosome. (latimes.com)
  • This presented scientists with the opportunity to examine intensively the similarities and differences in the DNA sequence of human and mouse. (bio-medicine.org)
  • or whether the nucleic acid sequence of interest is localized in the chromosomes, nucleus, or cytoplasm of a cell. (google.com)
  • An attempt has previously been made to map DNA methylation across human tissues, however, the means of distinguishing between methylated, unmethylated and differentially-methylated groups using DNA sequence features remains unclear. (bl.uk)
  • Claim 16: A pair of single-stranded DNA primers for determination of a nucleotide sequence of a BRCA1 gene by a polymerase chin reaction, the sequence of said primers being derived from human chromosome 17q, wherein the use of said primers in a polymerase chain reaction results in the synthesis of DNA having all or part of the sequence of the BRCA1 gene. (jdsupra.com)
  • Claim 17: The pair of primers of claim 16 wherein said BRCA1 gene has the nucleotide sequence set forth in SEQ ID NO:1. (jdsupra.com)
  • A pair of single-stranded DNA primers of at least 15 nucleotides in length for determination of the nucleotide sequence of a BRCA2 gene by a polymerase chain reaction, the sequence of said primers being isolated from human chromosome 13, wherein the use of said primers in a polymerase chain reaction results in the synthesis of DNA comprising all or at least 15 contiguous nucleotides of the BRCA2 gene. (jdsupra.com)
  • CCL23 shares approximately 73% nucleotide sequence identity with leukotactin (MIP-1δ), and the two genes have been localized to human chromosome 17 within 200 kb of each other. (rndsystems.com)
  • Life's construction set, DNA, is made up of four key molecules (adenine, thymine, cytosine, and guanine), strung together in pairs to form an extremely long chain, known as a chromosome. (cnn.com)
  • Along each chromosome chain, the adenine, thymine, cytosine, and guanine molecules are paired off, and unevenly arranged into discrete segments called genes. (cnn.com)
  • Human genes are present on long strands of DNA (complex molecules) called chromosomes. (slideshare.net)
  • Definitely 2 DNA molecules, Its not that chromosomes have separate DNA molecules in them. (biology-online.org)
  • Its that the 2 DNA molecules themselves are divided into fragments that constitute the chromosomes. (biology-online.org)
  • The SC is a proteinaceous structure that holds homologous chromosome pairs in synapsis during prophase I, from zygonema to pachynema. (nature.com)
  • Within cells, DNA is organized into structures called chromosomes . (newworldencyclopedia.org)
  • These chromosomes are duplicated before cells divide, in a process called DNA replication. (newworldencyclopedia.org)
  • Recombinant Human Furin was produced inDrosophila melanogaster Schneider 2 cells. (creativebiomart.net)
  • The offspring of the infected individual will then have a copy of the ERV in the same place, in the same chromosome, in every single one of their cells. (brainscape.com)
  • Aldolase B, found on human chromosome 9 ( 9 ), generally is considered to be a liver enzyme, although it also is found in kidney proximal tubule cells and enterocytes. (pnas.org)
  • To avoid any toxic effect from double sets of X genes, female cells randomly choose one copy of the X chromosome and silence it -- or so scientists had believed. (latimes.com)
  • To investigate this variation, Carrel and Willard isolated cells from 40 women and measured the activity of hundreds of genes to see whether those on the second X chromosome were active or silent. (latimes.com)
  • While there is some overlap in their intracellular distribution, NMHC-B has been shown to be localized near the plasma membrane of some cells, whereas NMHC-A is found in stress fibers, suggesting that each isoform might have a specific function ( 12 , 17 , 18 ). (pnas.org)
  • However, a number of cells, including rat basophil leukemic cells ( 19 ) and human platelets ( 13 , 18 ), contain only myosin II-A, whereas a monkey kidney epithelial cell line (COS-7 cells) contains only myosin II-B. Furthermore, cardiac myocytes from newborn mice ( 8 ) and primary cultures of embryonic chicken cardiac myocytes were found to contain only NMHC-B and not NMHC-A ( 20 , 21 ). (pnas.org)
  • A blastocyst is an early stage embryo-approximately four to five days old in humans and consisting of 50-150 cells. (slideshare.net)
  • Normal human cells undergo a finite number of cell divisions and ultimately enter a nondividing state called replicative senescence. (sciencemag.org)
  • To test this hypothesis, two telomerase-negative normal human cell types, retinal pigment epithelial cells and foreskin fibroblasts, were transfected with vectors encoding the human telomerase catalytic subunit. (sciencemag.org)
  • The ability to maintain normal human cells in a phenotypically youthful state could have important applications in research and medicine. (sciencemag.org)
  • Normal human diploid cells placed in culture have a finite proliferative life-span and enter a nondividing state termed senescence, which is characterized by altered gene expression ( 1 , 2 ). (sciencemag.org)
  • Telomerase is active in germline cells and, in humans, telomeres in these cells are maintained at about 15 kilobase pairs (kbp). (sciencemag.org)
  • We recently demonstrated that telomerase activity can be reconstituted by transient expression of hTRT in normal human diploid cells, which express low levels of the template RNA component of telomerase (hTR) but do not express hTRT ( 18 ). (sciencemag.org)
  • Human cells have 23 pairs of homologous chromosomes. (biology-online.org)
  • To duplicate all this information stored in the chromosomes and to make it usefull cells use a process we call central dogma. (prezi.com)
  • Any deviation from this number can be fatal for cells, and several genetic disorders, such as Down syndrome, are caused by abnormal numbers of chromosomes. (news-line.com)
  • Aneuploidy occurs when cells make errors sorting their chromosomes during cell division. (news-line.com)
  • As they can only observe chromosomes when the cells are splitting it becomes even more difficult. (biology-online.org)
  • The maturation of germ line stem cells into gametes requires that the diploid number of each chromosome be reduced by half. (creationwiki.org)
  • Centromeres allow movement of chromosomes when cells divide, which ensures normal distribution of all genetic material to each daughter cell. (bio-medicine.org)
  • In technical terms, the technique involves conversion of the cells' paired-chromosome state of "diploidy" to a single chromosome state of "haploidy," said Vogelstein. (hhmi.org)
  • The mouse cells are deficient in the machinery that continually rejects foreign chromosomes and, thus, can be made to harbor human genes that function normally. (hhmi.org)
  • Included in the assortment of fused human-mouse cells are some that have come to possess only the single defective copy of the human gene. (hhmi.org)
  • For example, he said, genes from such haploid cells could be effectively detected using "microarrays" chips containing many thousands of base pairs that can be tested simultaneously. (hhmi.org)
  • Measured by its ability to chemoattract THP‑1 human acute monocytic leukemia cells. (rndsystems.com)
  • Measured by its ability to chemoattract BaF3 mouse pro‑B cells transfected with human CCR1. (rndsystems.com)
  • The two chemokines have also been reported to chemoattract neutrophils and to inhibit colony formation by human hematopoietic progenitor cells. (rndsystems.com)
  • This zip file contains the results of running a QTL workflow for Bilateral Perisylvian Polymicrogyria in human (homo sapiens). (myexperiment.org)
  • Follow-up studies involving three additional case-control groups replicated an association of two variants on chromosome 17 with the disease. (nih.gov)
  • Two human mRNA transcript variants arise from alternative splicing. (atlasgeneticsoncology.org)
  • Presently, various array-based methods, such as the 32 K bacterial artificial chromosome (BAC) array and Affy 100 K SNP array [ 21 - 23 ], are the most common approaches to detecting and localizing copy number variants, which are one class of genomic variation. (biomedcentral.com)
  • In addition, AUTS2 contains the most significantly accelerated genomic region differentiating humans from Neanderthals, which is primarily composed of noncoding variants. (prolekare.cz)
  • 2002. 'Construction and analysis of a Human-Chimpanzee Comparative Clone Map. (answers.com)
  • The fact that men have just one copy of the X chromosome makes the mutated genes on that one piece of DNA much easier to find, said Scherer. (bio-medicine.org)
  • As many as 300 of the genes on the X chromosome may be activated differently among women than among men, said molecular biologist Laura Carrel at Pennsylvania State University College of Medicine, the other author of the paper. (latimes.com)
  • The human gene CCDC37 is found on chromosome 3 at the band 3q21.3. (wikipedia.org)
  • For example, the defective gene for progressive retinal atrophy (PRA) was found on chromosome 9 in dogs before discovering it on chromosome 17 in humans. (massapequapost.com)
  • A type of blood cancer known as acute promyelocytic leukemia is caused by a rearrangement (translocation) of genetic material between chromosomes 15 and 17. (medlineplus.gov)
  • This translocation, written as t(15;17), fuses part of the PML gene from chromosome 15 with part of the RARA gene from chromosome 17. (medlineplus.gov)
  • The t(15;17) translocation is called a balanced reciprocal translocation because the pieces of chromosome are exchanged with each other (reciprocal) and no genetic material is gained or lost (balanced). (medlineplus.gov)
  • Over time, genes that were beneficial for males and harmful to (or had no effect on) females either developed on the Y chromosome or were acquired through the process of translocation . (wikipedia.org)
  • Furin is also known as PACE (Paired basic Amino acid Cleaving Enzyme). (creativebiomart.net)
  • We also isolated human cDNA encoding FGF-23 (251 amino acids), which is highly identical ( approximately 72% amino acid identity) to mouse FGF-23. (stackexchange.com)
  • Of human FGF family members, FGF-23 is most similar to FGF-21 and FGF-19 ( approximately 24% and approximately 22% amino acid identities, respectively). (stackexchange.com)
  • We also identified the expression of the N terminal extended form of PDIP1alpha (referred to as PDIP1beta) consisting of 2649 amino acids (295 kDa) in human cultured cell lines by RT-PCR, and 5' rapid amplification of cDNA ends. (embl.de)
  • Screening of a mouse 17-day fetus cDNA library with the Angiotensin II receptor AT2 as the bait in yeast two-hybrid assay led us to identify an AT2-interacting mouse fetus peptide that shared 98% amino acid identity with the corresponding region of the human NHE6. (embl.de)
  • CK beta 8-1/CK beta 8 (MPIF-1) and leukotactin/MIP-1δ form a subgroup of beta chemokines that have 6 conserved cysteine residues and an extended amino-terminus preceding the conserved cysteine pair. (rndsystems.com)
  • Eighteen randomly selected CEP17 polysomic cases and a control group of ten CEP17 disomic cases, as defined by dual-colour FISH, were studied by microarray-based comparative genomic hybridization (aCGH), which was performed on microdissected samples using a 32K tiling-path bacterial artificial chromosome microarray platform. (nih.gov)
  • DNA dating: How molecular clocks are refining human evolution's timeline by Bridget Alex and Priya Moorjani, The Conversation , 7 April 2017. (isogg.org)
  • Human Genetics , published online 28 April 2017. (isogg.org)
  • Cloning, expression, and chromosomal localization of human long-chain fatty acid-CoA ligase 4 (FACL4. (biomedsearch.com)
  • 17q12 duplication is a chromosomal change in which a small piece of chromosome 17 is copied abnormally in each cell. (medlineplus.gov)
  • These strands are paired, connected side to side along their lengths. (slideshare.net)
  • Each cell in the human body has 23 pairs of chromosomes, strands of DNA. (danielwillingham.com)
  • Interestingly, humans have 23 pairs of chromosomes while chimpanzees have 24. (brainscape.com)
  • Scientists believe this can be explained by two small chromosomes found in chimpanzees having fused to form one of the human chromosomes at some time in the past. (brainscape.com)
  • What is a compelling evidence that humans and chimpanzees share a common ancestor? (brainscape.com)
  • When comparing the chromosomes of humans and chimpanzees, scientists have found 16 instances of human ERVs matching exactly with chimpanzee ERVs. (brainscape.com)
  • Are humans and chimpanzees 99 percent genetically identical? (answers.com)
  • Although it has commonly been stated in the past that humans and chimpanzees have 98.5% DNA similarity, this figure has recently been found to be incorrect. (answers.com)
  • Newer research has suggested that there is approximately 96% genetic similarity between Humans and chimpanzees overall. (answers.com)
  • Specifically, 18 of the chromosomes of humans are nearly identical to those of chimpanzees, the rest are very different (eg: chromosomes 4, 9, 12, 21, and y). (answers.com)
  • 2) Chimpanzees and other apes have telomeres about 23 kilobases long, whereas humans are completely unique among primates with much shorter telomeres only 10 kilobases long. (answers.com)
  • 3) The Y chromosome in chimpanzees is smaller than that of humans and only 60% of the genes are similar to those of the y chromosome of humans. (answers.com)
  • The X chromosomes of males are all the same in this regard. (bio-medicine.org)
  • In humans and other mammals, males have one X and one Y chromosome, while females have a pair of X's. (bio-medicine.org)
  • Because males inherit a Y chromosome from their fathers, every son of an affected father will be affected. (prezi.com)
  • From this analysis, author extract 47 features associated with gender and age, with 17 revealing significant methylation differences between males and females. (bl.uk)
  • There are additional complications mentioned in the paper (such as not all humans having a simple XX or XY pair, or contamination by males/females messing up with the ratio of ancient samples of the opposite sex). (blogspot.com)
  • We analyzed the Y-chromosome of 87 males covering the distribution range of the Rupicapra genus. (biomedcentral.com)
  • The association between polysomy 17 and Her-2 expression was checked by Fisher's exact test. (biomedsearch.com)
  • In some OSCC Her-2 immunohistochemical expression may be associated with chromosome 17 polysomy and not Her-2 amplification. (biomedsearch.com)
  • A proximal promoter region, approximately 200 bp in length, has been identified that contains many of the elements (including overlapping hepatic nuclear factor binding sites) necessary for properly regulated expression if it is paired with sequences in the first intron ( 11 - 13 ). (pnas.org)
  • We looked at the X chromosomes of 40 women and every one of them had a unique pattern of gene expression," Willard said. (bio-medicine.org)
  • Expression of primary miR-21 ( pri-miR-21 ) is repressed by BLIMP-1 during IL-21-driven in vitro human plasmablast differentiation, despite continued STAT3 activation and pri-miR-21 promoter occupancy by phospho-STAT3. (jimmunol.org)
  • We detected widespread expression of this NHE6 isoform in several rat tissues including 10-day fetus, 17-day fetus, and 30-day post-natal tissues of heart, brain, kidney and muscle. (embl.de)
  • CISH showed that all cases with faint staining were diploid, while from the cases with moderate staining 10 were diploid and 12 polysomic for chromosome 17. (biomedsearch.com)
  • During meiosis, two successive rounds of chromosome segregation occur following a single round of replication, resulting in the formation of haploid gametes from diploid progenitors 1 . (nature.com)
  • The term diploid describes a state in which a cell has two sets of homologous chromosomes, or two chromosomes that are the same. (creationwiki.org)
  • This reduction is accomplished through a process called meiosis , where one chromosome in a diploid pair is sent to each daughter gamete. (creationwiki.org)
  • It is located on the plus strand and contains 17 exons. (wikipedia.org)
  • The Y chromosome is one of two sex chromosomes ( allosomes ) in mammals , including humans , and many other animals. (wikipedia.org)
  • In mammals, the Y chromosome contains the gene SRY , which triggers male development. (wikipedia.org)
  • Most therian mammals have only one pair of sex chromosomes in each cell. (wikipedia.org)
  • In mammals, the Y chromosome contains a gene, SRY , which triggers embryonic development as a male. (wikipedia.org)
  • The Y chromosomes of humans and other mammals also contain other genes needed for normal sperm production. (wikipedia.org)
  • Before the split between birds and mammals, the X and Y chromosomes were just like any other pair of chromosomes each was fairly similar and carried similar information. (bio-medicine.org)
  • It is coiled in form of chromatin fibres which condense to form chromosomes. (biology-online.org)
  • In contrast, the X chromosome -- present in at least one copy in both sexes -- encodes more than 1,000. (bio-medicine.org)
  • At present genetics does not allow for the dual nature of an individual and the fact that there are two sexes, because 23 pairs of chromosomes cannot account for this. (biology-online.org)
  • The associated chromosome trap (ACT) assay is a novel unbiased method for identifying long-range DNA interactions. (jove.com)
  • The Associated Chromosome Trap (ACT) assay provides an effective methodology to identify these long-range DNA associations in an unbiased fashion by extending and modifying the chromosome conformation capture technique. (jove.com)
  • The two nonmuscle myosin II isoforms present in vertebrates differ in the rate at which they hydrolyze ATP and propel actin filaments in the in vitro motility assay ( 17 ). (pnas.org)