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.

Tissue specific expression and chromosomal mapping of a human UDP-N-acetylglucosamine: alpha1,3-d-mannoside beta1, 4-N-acetylglucosaminyltransferase. (1/980)

A human cDNA for UDP- N -acetylglucosamine:alpha1,3-d-mannoside beta1,4- N- acetylglucosaminyltransferase (GnT-IV) was isolated from a liver cDNA library using a probe based on a partial cDNA sequence of the bovine GnT-IV. The cDNA encoded a complete sequence of a type II membrane protein of 535 amino acids which is 96% identical to the bovine GnT-IV. Transient expression of the human cDNA in COS7 cells increased total cellular GnT-IV activity 25-fold, demonstrating that this cDNA encodes a functional human GnT-IV. Northern blot analysis of normal tissues indicated that at least five different sizes of mRNA (9.7, 7.6, 5.1, 3.8, and 2.4 kb) forGnT-IV are expressed in vivo. Furthermore, these mRNAs are expressed at different levels between tissues. Large amounts of mRNA were detected in tissues harboring T lineage cells. Also, the promyelocytic leukemia cell line HL-60 and the lymphoblastic leukemia cell line MOLT-4 revealed abundant mRNA. Lastly, the gene was mapped at the locus on human chromosome 2, band q12 by fluorescent in situ hybridization.  (+info)

A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer. (2/980)

The frequency, origin, and phenotypic expression of a germline MSH2 gene mutation previously identified in seven kindreds with hereditary non-polyposis cancer syndrome (HNPCC) was investigated. The mutation (A-->T at nt943+3) disrupts the 3' splice site of exon 5 leading to the deletion of this exon from MSH2 mRNA and represents the only frequent MSH2 mutation so far reported. Although this mutation was initially detected in four of 33 colorectal cancer families analysed from eastern England, more extensive analysis has reduced the frequency to four of 52 (8%) English HNPCC kindreds analysed. In contrast, the MSH2 mutation was identified in 10 of 20 (50%) separately identified colorectal families from Newfoundland. To investigate the origin of this mutation in colorectal cancer families from England (n=4), Newfoundland (n=10), and the United States (n=3), haplotype analysis using microsatellite markers linked to MSH2 was performed. Within the English and US families there was little evidence for a recent common origin of the MSH2 splice site mutation in most families. In contrast, a common haplotype was identified at the two flanking markers (CA5 and D2S288) in eight of the Newfoundland families. These findings suggested a founder effect within Newfoundland similar to that reported by others for two MLH1 mutations in Finnish HNPCC families. We calculated age related risks of all, colorectal, endometrial, and ovarian cancers in nt943+3 A-->T MSH2 mutation carriers (n=76) for all patients and for men and women separately. For both sexes combined, the penetrances at age 60 years for all cancers and for colorectal cancer were 0.86 and 0.57, respectively. The risk of colorectal cancer was significantly higher (p<0.01) in males than females (0.63 v 0.30 and 0.84 v 0.44 at ages 50 and 60 years, respectively). For females there was a high risk of endometrial cancer (0.5 at age 60 years) and premenopausal ovarian cancer (0.2 at 50 years). These intersex differences in colorectal cancer risks have implications for screening programmes and for attempts to identify colorectal cancer susceptibility modifiers.  (+info)

Familial dilated cardiomyopathy locus maps to chromosome 2q31. (3/980)

BACKGROUND: Inherited gene defects are an important cause of dilated cardiomyopathy. Although the chromosome locations of some defects and 1 disease gene (actin) have been identified, the genetic etiologies of most cases of familial dilated cardiomyopathy remain unknown. METHODS AND RESULTS: We clinically evaluated 3 generations of a kindred with autosomal dominant transmission of dilated cardiomyopathy. Nine surviving and affected individuals had early-onset disease (ventricular chamber dilation during the teenage years and congestive heart failure during the third decade of life). The disease was nonpenetrant in 2 obligate carriers. To identify the causal gene defect, linkage studies were performed. A new dilated cardiomyopathy locus was identified on chromosome 2 between loci GCG and D2S72 (maximum logarithm of odds [LOD] score=4.86 at theta=0). Because the massive gene encoding titin, a cytoskeletal muscle protein, resides in this disease interval, sequences encoding 900 amino acid residues of the cardiac-specific (N2-B) domain were analyzed. Five sequence variants were identified, but none segregated with disease in this family. CONCLUSIONS: A dilated cardiomyopathy locus (designated CMD1G) is located on chromosome 2q31 and causes early-onset congestive heart failure. Although titin remains an intriguing candidate gene for this disorder, a disease-causing mutation is not present in its cardiac-specific N2-B domain.  (+info)

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. (4/980)

The congenital nemaline myopathies are rare hereditary muscle disorders characterized by the presence in the muscle fibers of nemaline bodies consisting of proteins derived from the Z disc and thin filament. In a single large Australian family with an autosomal dominant form of nemaline myopathy, the disease is caused by a mutation in the alpha-tropomyosin gene TPM3. The typical form of nemaline myopathy is inherited as an autosomal recessive trait, the locus of which we previously assigned to chromosome 2q21.2-q22. We show here that mutations in the nebulin gene located within this region are associated with the disease. The nebulin protein is a giant protein found in the thin filaments of striated muscle. A variety of nebulin isoforms are thought to contribute to the molecular diversity of Z discs. We have studied the 3' end of the 20. 8-kb cDNA encoding the Z disc part of the 800-kDa protein and describe six disease-associated mutations in patients from five families of different ethnic origins. In two families with consanguineous parents, the patients were homozygous for point mutations. In one family with nonconsanguineous parents, the affected siblings were compound heterozygotes for two different mutations, and in two further families with one detected mutation each, haplotypes are compatible with compound heterozygosity. Immunofluorescence studies with antibodies specific to the C-terminal region of nebulin indicate that the mutations may cause protein truncation possibly associated with loss of fiber-type diversity, which may be relevant to disease pathogenesis.  (+info)

Cloning, expression, and genetic mapping of Sema W, a member of the semaphorin family. (5/980)

The semaphorins comprise a large family of membrane-bound and secreted proteins, some of which have been shown to function in axon guidance. We have cloned a transmembrane semaphorin, Sema W, that belongs to the class IV subgroup of the semaphorin family. The mouse and rat forms of Sema W show 97% amino acid sequence identity with each other, and each shows about 91% identity with the human form. The gene for Sema W is divided into 15 exons, up to 4 of which are absent in the human cDNAs that we sequenced. Unlike many other semaphorins, Sema W is expressed at low levels in the developing embryo but was found to be expressed at high levels in the adult central nervous system and lung. Functional studies with purified membrane fractions from COS7 cells transfected with a Sema W expression plasmid showed that Sema W has growth-cone collapse activity against retinal ganglion-cell axons, indicating that vertebrate transmembrane semaphorins, like secreted semaphorins, can collapse growth cones. Genetic mapping of human SEMAW with human/hamster radiation hybrids localized the gene to chromosome 2p13. Genetic mapping of mouse Semaw with mouse/hamster radiation hybrids localized the gene to chromosome 6, and physical mapping placed the gene on bacteria artificial chromosomes carrying microsatellite markers D6Mit70 and D6Mit189. This localization places Semaw within the locus for motor neuron degeneration 2, making it an attractive candidate gene for this disease.  (+info)

Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q. (6/980)

Two Swedish families with autosomal dominant myopathy, who also had proximal weakness, early respiratory failure, and characteristic cytoplasmic bodies in the affected muscle biopsies, were screened for linkage by means of the human genome screening set (Cooperative Human Linkage Center Human Screening Set/Weber version 6). Most chromosome regions were completely excluded by linkage analysis (LOD score <-2). Linkage to the chromosomal region 2q24-q31 was established. A maximum combined two-point LOD score of 4.87 at a recombination fraction of 0 was obtained with marker D2S1245. Haplotype analysis indicated that the gene responsible for the disease is likely to be located in the 17-cM region between markers D2S2384 and D2S364. The affected individuals from these two families share an identical haplotype, which suggests a common origin.  (+info)

A genetic linkage map of rat chromosome 9 with a new locus for variant activity of liver aldehyde oxidase. (7/980)

A genetic linkage map of rat chromosome 9 consisting of five loci including a new biochemical marker representing a genetic variation of the activity of the liver aldehyde oxidase, (Aox) was constructed. Linkage analysis of the five loci among 92 backcross progeny of (WKS/Iar x IS/Iar)F1 x WKS/Iar revealed significant linkages between these loci. Minimizing crossover frequency resulted in the best gene order: Aox-D9Mit4-Gls-Cryg-Tp53l1. The homologues of the Cryg, Gls, and Aox genes have been mapped on mouse chromosome 1 and human chromosome 2q. The present findings provide further evidence for the conservation of synteny among these regions of rat, mouse, and human chromosomes.  (+info)

Mismatch repair and differential sensitivity of mouse and human cells to methylating agents. (8/980)

The long-patch mismatch repair pathway contributes to the cytotoxic effect of methylating agents and loss of this pathway confers tolerance to DNA methylation damage. Two methylation-tolerant mouse cell lines were identified and were shown to be defective in the MSH2 protein by in vitro mismatch repair assay. A normal copy of the human MSH2 gene, introduced by transfer of human chromosome 2, reversed the methylation tolerance. These mismatch repair defective mouse cells together with a fibroblast cell line derived from an MSH2-/- mouse, were all as resistant to N-methyl-N-nitrosourea as repair-defective human cells. Although long-patch mismatch repair-defective human cells were 50- to 100-fold more resistant to methylating agents than repair-proficient cells, loss of the same pathway from mouse cells conferred only a 3-fold increase. This discrepancy was accounted for by the intrinsic N-methyl-N-nitrosourea resistance of normal or transformed mouse cells compared with human cells. The >20-fold differential resistance between mouse and human cells could not be explained by the levels of either DNA methylation damage or the repair enzyme O6-methylguanine-DNA methyltransferase. The resistance of mouse cells to N-methyl-N-nitrosourea was selective and no cross-resistance to unrelated DNA damaging agents was observed. Pathways of apoptosis were apparently intact and functional after exposure to either N-methyl-N-nitrosourea or ultraviolet light. Extracts of mouse cells were found to perform 2-fold less long-patch mismatch repair. The reduced level of mismatch repair may contribute to their lack of sensitivity to DNA methylation damage.  (+info)

Find information about Albright College precalculus. As the entrance requirements for engineering programs vary, learn about the various specialization options available.
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ARhiSi combined analysis of ARhiSi-1 and ARhiSi-2: responder (healed or improved) to treatment from visit 2 (day 3) to visit 5 (day 14) (FAS, full analysis set;
Lola Albright - Autographed Signed Photograph 04/02/2013 - Item 308338. The actress is shown from the chest up in this black and white photograph. . Photograph signed: Lola/Albright, B/w 8x10. Shop for Lola Albright related autographs, signed photographs, historical documents and manuscripts from the worlds largest collection. Every purchase includes our industry recognized COA. Worldwide shipping available.
Visit Healthgrades for information on Dr. Ronald Albright, MD Find Phone & Address information, medical practice history, affiliated hospitals and more.
The Hanover Insurance Group has appointed Kristen Albright to chief actuary. In this role, she will be responsible for all actuarial functions
October 2011. I was asked to judge a show down in Enfield Middx by a good friend of mine. The show is run by the Capel Manor bonsai club and is a small show but the quality of display is very high. Along with fellow judge Bryan Albright, we selected this Chamecyparis as best tree in show. The only criticism with the display was the pot. Maybe a slab or a flat stone would make a better composition? ...
The prognostic impact of minimal disseminated disease (MDD) and anti-anaplastic lymphoma kinase (ALK) antibody titer in children with ALK-positive anaplastic large cell lymphoma (ALCL) was reported...
Health,In the first genomewide search for the genetic roots of the most commo...The 34 so-called single nucleotide polymorphisms or SNPs represent...Although we havent located the exact gene responsible for sporadic...ALS also known as Lou Gehrigs disease for the legendary Yankee fir... Genes behind inherited forms of ALS--responsible for about only 5 p...,Gene,Hunters,at,Johns,Hopkins,Close,In,On,Lou,Gehrigs,Disease,medicine,medical news today,latest medical news,medical newsletters,current medical news,latest medicine news
Recommended Readings. Dixon-Salazar, T. J., J. L. Silhavy, N. Udpa, J. Schroth, S. Bielas, A. E. Schaffer, J. Olvera, et al. 2012. Exome Sequencing can Improve Diagnosis and Alter Patient Management. Science Translational Medicine 4 (138). Novarino, G., N. Akizu, and J. G. Gleeson. 2011. Modeling Human Disease in Humans: The Ciliopathies. Cell 147 (1): 70-79. Novarino, G., P. El-Fishawy, H. Kayserili, N. A. Meguid, E. M. Scott, J. Schroth, J. L. Silhavy, et al. 2012. Mutations in BCKD-Kinase Lead to a Potentially Treatable Form of Autism with Epilepsy. Science 338 (6105): 394-397. Parisi, M. A., C. L. Bennett, M. L. Eckert, W. B. Dobyns, J. G. Gleeson, D. W. W. Shaw, R. McDonald, A. Eddy, P. F. Chance, and I. A. Glass. 2004. The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis is Present in a Subset of Individuals with Joubert Syndrome. American Journal of Human Genetics 75 (1): 82-91. Yaari, R., I. A. Anselm, I. S. Szer, D. M. Malicki, M. P. Nespeca, and J. G. Gleeson. ...
Hi Pam We just purchased a Monoclonal Mouse Anti-Human ALK Protein, Clone ALK1 from DAKO. I havent had a chance to try it yet though. The code No. is M 7195. You can give them a call at 800-235-5763. Good Luck Denise Sapier Fred Hutchinson Cancer Research Center Clinical Pathology Shared Resources 206-667-2385 SC-111 ...
Beijing, 24 February 1997 (RFE/RL) - U.S. Secretary of State Madeleine Albright opened her contacts with Chinese leaders in Beijing today by holding a round of talks with Foreign Minister Qian Qich...
Find information about Albright College microbiology lab. You can enter nursing with either an associates degree or BSN. As a licensed vocational nurse (LVN), you may provide patient care under the supervision of a registered nurse (RN).
Linkage of genomewide scan: LOD=1.98, MLS=2.829, NPL=3 with ...... Linkage of genomewide scan: LOD=1.98, MLS=2.829, NPL=3 with marker D17S799; Family-specific linkage of fine mapping: LOD=3.4, NPLall Zb >12.0 with marker D17S1876;LOD=3.5, NPLall Zb >12.0 with marker D17S678;LOD=3.9, NPLall Zb >12.0 with marker D17S1881;LOD=3.8, NPLall Zb >12.0 with marker D17S1844;LOD=3.7, NPLall Zb >12.0 with marker D17S1791; Linkage of fine mapping in combined families: LOD=2.5, NPLall Zb >12.0 with marker D17S1876 More... ...
Myc-DDK-tagged ORF clone of Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1 as transfection-ready DNA - 10 µg - OriGene - cdna clones
Doctors can now choose the best treatment option for neuroblastoma, one of the common types of childhood cancer, with the help of whole-genome scan.
The discovery of the genetic basis of neuroblastoma, a childhood cancer, paves the way for possible treatments. Read this informative article to find out how the ALK gene acts as an oncogene - a cancer causing gene.
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Sous quel format sont les fichiers E-BOOK ? Comment transformer un document (Word ou PDF) en un format compatible ? Où trouve-t-on des E-BOOK ?
പദാർത്ഥത്തിന്റെ അവസ്ഥയെയും (ഖരം, ദ്രാവകം, വാതകം) താപനിലയെയും ആശ്രയിച്ച് മൂന്ന് ഘടനകൾ സ്വീകരിക്കാൻ AlCl3ന് സാധിക്കും. ഖരാവസ്ഥയിലുള്ള AlCl3, ഷീറ്റിന് സമാനമായ പാളികളുള്ള ഘനരൂപമായി കാണപ്പെടുന്നു. ഈ അവസ്ഥയിൽ അലൂമിനിയം, അഷ്ടമുഖ ഏകോപന ജ്യാമിതിയായി കാണപ്പെടുന്നു.[7] ദ്രവീകരിച്ച അവസ്ഥയിൽ അലൂമിനിയം ട്രൈക്ലോറൈഡ് ഒരു ഡിമർ Al2Cl6 ആയി ടെട്രാകോർഡിനേറ്റ് അലൂമിനിയം കാണപ്പെടുന്നു. ...
Looking for online definition of Albright syndrome in the Medical Dictionary? Albright syndrome explanation free. What is Albright syndrome? Meaning of Albright syndrome medical term. What does Albright syndrome mean?
PubMed Central Canada (PMC Canada) provides free access to a stable and permanent online digital archive of full-text, peer-reviewed health and life sciences research publications. It builds on PubMed Central (PMC), the U.S. National Institutes of Health (NIH) free digital archive of biomedical and life sciences journal literature and is a member of the broader PMC International (PMCI) network of e-repositories.
Albright, J F.; Albright, J W.; and Dusanic, D G., Trypanosome-induced splenomegaly and suppression of mouse spleen cell responses to antigen and mitogens. (1977). Subject Strain Bibliography 1977. 1699 ...
Anaplastic large cell lymphoma (ALCL) represents a generally recognized group of large cell lymphomas. Defining features consist of a proliferation of predominantly large lymphoid cells with strong expression of the cytokine receptor CD30 and a characteristic growth pattern. With the use of molecular and clinical criteria, 3 entities of ALCL have been identified: primary systemic anaplastic lymphoma kinase (ALK)(+) ALCL, primary systemic ALK(-) ALCL, and primary cutaneous ALCL. ALK expression is caused by chromosomal translocations, most commonly t(2;5). ALK(+) ALCL predominantly affects young male patients and, if treated with chemotherapy, has a favorable prognosis. It shows a broad morphologic spectrum, with the common type, the small cell variant, and the lymphohistiocytic variant being most commonly observed. The knowledge of the existence of these variants is essential in establishing a correct diagnosis. ALK(-) ALCL occurs in older patients, affecting both genders equally and having an ...
Posted by Cort Johnson(Evidence for a heritable predisposition to Chronic Fatigue Syndrome. Albright F, Light K, Light A, Bateman L, Cannon-Albright
Former Secretaries of State Madeleine Albright and General Colin L. Powell will participate in a preview virtual conversation on Thursday, March 18 at 7 p.m.
A LOD score is the likelihood of linkage between two genetic traits. If the LOD score is high, then the traits are closely linked...
In the US alone, cataracts affect over 20 million adults 40 and older and half of all seniors age 80 and up. Over time, the lenses in our eyes can become
Thank you for your interest in spreading the word on Stroke.. NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address. ...
You can go; but youll have to pay out of pocket. It was worth it for me in the long run. Ill easily make my costs back with the items that I finally got documented and presented at the formal PEB. Ia week. asked a friend who she used and called and made an appointment. Got seen within Have you ...
Q&A. Q:什麼是自體免疫檢查?. A:少數人的免疫系統會攻擊自己的胚胎,造成胚胎無法著床或反覆流產。. 用抽血檢查即可知道體內是否具有特殊抗體。. Q:我需要做自體免疫檢查嗎?. A:1.累計植入10顆外表漂亮之胚胎或5顆囊胚沒成. 2.不明原因不孕、高齡、卵巢早衰(老)、體質過敏者. 3.反覆流產或習慣性流產. 以上只要有任一項符合,建議您做自體免疫篩檢。. Q:什麼時候可以做檢查?. A:無月經週期限制,任何時間皆可。. 因某些自體免疫反應可能是於懷孕後才啟動,建議可於懷孕時或剛流產後檢驗. ...
हाल ही में, केंद्र सरकार ने केन्द्रीय अन्वेषण ब्यूरो (सीबीआई) निदेशक आलोक वर्मा की जगह जॉइंट डायरेक्टर एम नागेश्वर राव को अंतरिम निदेशक नियुक्त किया है। सरकार ने
崇越指出,受益於先進製程需求強勁,晶圓代工廠12吋廠產能第4季還是會持續滿載;不過關於40/65奈米等其他製程,晶圓代工廠第4季稼動率則將下修至7-8成,此部分需求將會下滑。而由於第1、第4季向來是崇越的傳統淡季,因此目前對第4季營運亦是保守看待。. 不過由於崇越1-8月累積營收已達93.78億元,未來單月營收僅要達到10億元的門檻,今年全年營收就可追平去年,因此法人也普遍看好,崇越今年營收至少可和去年持平。 惟在今年獲利表現方面,崇越則是看的較為保守,指出由於毛利率較優的石英,因晶圓廠製程進行調整,減少爐管的使用、增加自動化設備的比重,因此出貨有不小衰退。就以上半年石英的營收佔比而言,已從去年同期的1成滑落至5-6%左右,因此估計今年獲利恐會往下走。 ...
Press Release issued Dec 26, 2014: Global Markets Directs, Anaplastic Large Cell Lymphoma (ALCL) - Pipeline Review, H2 2014, provides an overview of the Anaplastic Large Cell Lymphoma (ALCL)s therapeutic pipeline.
Looking for medication to treat systemic+anaplastic+large+cell+lymphoma? Find a list of current medications, their possible side effects, dosage, and efficacy when used to treat or reduce the symptoms of systemic+anaplastic+large+cell+lymphoma
Although anaplastic large-cell lymphomas (ALCL) carrying anaplastic lymphoma kinase (ALK) have a relatively good prognosis, aggressive forms exist. We have identified a novel translocation, causing the fusion of the TRAF1 and ALK genes, in one patient who presented with a leukemic ALK+ ALCL (ALCL-11 …
Ki-1 anaplastic large cell lymphoma (ALCL) commonly affects the skin, lymph nodes, and bone. Primary ALCL of the alimentary tract is rare. The authors describe a case of primary ALCL of the duodenum...
Anaplastic large cell lymphoma arises in thymocytes and requires transient T cell receptor expression for thymic egress. . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis universitarias en PDF. Material universiario, documentación y tareas realizadas por universitarios en nuestra biblioteca. Para descargar gratis y para leer online.
In the WHO classification,2 ALCL is divided into cutaneous and systemic types, with the latter further delineated by the presence or absence of ALK protein expression. The presence of ALK protein defines a group with an excellent prognosis when treated with standard chemotherapy.8⇓-10,22 Our results confirm the distinctive clinical features of ALK+ ALCL, because our patients were younger and had a more favorable prognosis compared with ALK− ALCL or PTCL-NOS. However, this favorable prognosis may be largely dictated by the younger age at presentation, as we found no outcome differences when the analysis was limited to ALCL patients aged 40 years and older. Interestingly, patients with stage III disease had a better outcome compared with those with stage IV disease in ALK+ ALCL, a feature further highlighted by the prognostic importance of multiple extranodal sites of involvement. Prior studies have suggested that extranodal disease is more prevalent in ALK+ ALCL.8,16 However, in the present ...
Table 2. LOD scores for linkage between cataract with microcornea and 22q11.2-q12.2 markers. Two-point LOD scores for linkage in microsatellite markers across the β-crystallin gene cluster in the chromosomal regions 22q11.2-q12.2. The maximum two-point lod score was achieved for D22S1114 at θ=0. Zmax, the maximum lod score achieved, is given for each marker. Significant linkage was found with microsatellite marker D22S1144 with pair-wise lod score exceeding 3.0.. ...
Our primary finding for linkage to diabetic nephropathy is on chromosome 19q (triangle MLS = 3.1), with a secondary peak on chromosome 2q (triangle MLS = 2.1). The former, but not the latter, exceeds the Lander and Kruglyak criterion of triangle MLS ≥2.6 (17,18) for suggestive linkage. For reference, triangle MLS values of 3.3, 2.3, and 1.7 correspond to unadjusted P values of 0.0001, 0.001, and 0.005, respectively.. Stratification of DSPs based on proteinuria or ESRD suggested four tertiary peaks: linkage with ESRD on chromosome 1q (MLS = 1.8), linkage with proteinuria on chromosome 20p (MLS = 2.8), and linkage with two separate regions on chromosome 3q, one for proteinuria (MLS = 1.5) and another, 58 cM away, for ESRD (MLS = 1.1). We also found two chromosomal regions linked with type 1 diabetes. The most striking, not surprisingly, was on chromosome 6p (MLS = 9.2, 52 cM), confirming the well-established linkage with HLA. We also replicated IDDM15 on chromosome 6q (MLS = 3.1, 142 cM) ...
The instruction of getting older, Immunity, and an infection has been a labor of work. once we begun, there existed an enormous literature-but deal with- capable, we concept, given our years of expertise within the zone sometimes called immunogerontology. notwithstanding, within the time that weve got been at paintings, the hot suitable literature has elevated at a prodigious expense. The extra we learn and attempted to assimilate, the farther we fell in the back of. with the intention to have any wish of finishing a ebook in this speedily evolving subject, we have now been pressured to develop into more and more selective in overlaying new and re cent courses. We dare to wish that many learn- ers will locate the publication worthy and just a couple of will dweIl at the inevitable inadequacies. We contemplate the booklet a piece in development, and welcome feedback for destiny variants. 5 chapters disguise numerous facets of an infection and the decline of immunity with age. the 1st ...
Secretary of State Madeleine Albright hosted American Muslim representatives Tuesday at her departments first iftar dinner, the evening meal that breaks the days fast during Ramadan.Responding to
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Dr. Dansie responded: Very specific. This is a very specific question and cant be answered adequately in 400 characters. You should really ask this question to your treating physician since they will know all the specifics of your particular case.
P-value = 0.035, NPL = 1.82, Dominant Max HLOD = 0.87, Re...... P-value = 0.035, NPL = 1.82, Dominant Max HLOD = 0.87, Recessive Max HLOD = 1.23 in Ashkenazi pedigrees; P-value = 0.069, NPL = 1.5, Dominant Max HLOD = 0.52, Recessive Max HLOD = 0.88 in BPI-restricted pedigrees More... ...
P-value = 0.028, NPL = 1.91, Dominant Max HLOD = 0.19, Re...... P-value = 0.028, NPL = 1.91, Dominant Max HLOD = 0.19, Recessive Max HLOD = 0.53 in Ashkenazi pedigrees; P-value = 0.037, NPL = 1.81, Dominant Max HLOD = 0.45, Recessive Max HLOD = 0.6 in BPI-restricted pedigrees More... ...
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By Shawn Albright Start over, do-over, take a mulligan, a new beginning, its a new day, reset, reboot, a second chance…persevere! Ive tried and failed the whole healthy thing so many times that I can pick what I plan to. ...
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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 alike. The primary difference is that humans have one fewer pair of chromosomes than ... chromosome segment inversions on human chromosomes 1, 4, 5, 9, 12, 15, 16, 17, and 18. After the completion of the Human genome ... Results from the human and chimpanzee genome analyses should help in understanding some human diseases. Humans appear to have ...
It has 14 chromosomes. Vicia bithynica is not cultivated for human or livestock consumption. The seeds contain high levels of ... The flowers are arranged in pairs (although sometimes solitary) on long (5 cm) peduncles branching from the leaf axils. The ... The leaves are arranged alternately along the stem, are up to about 9 cm long, have 2-3 pairs of leaflets, and end in branched ... The petioles are 2 cm long with a large, ovate, dentate stipule at the base. ...
... six pairs) of chromosomes, i.e. 2n = 12. The draft genome and transcriptomes were published in 2014. Its genome is 634.5 MB in ... In humans,O. viverrini inhabits mainly the bile ducts, and rarely, the gall bladder and pancreatic duct. Heavy infection can ... The first human specimen was described by a British parasitologist Robert Thomson Leiper in 1915, but without knowing the exact ... The first human case was discovered by Robert Thomson Leiper in 1915. O. viverrini (together with Clonorchis sinensis and ...
... is located on human chromosome 2, at 2p24.3. It has 1512 base pairs in the reference sequence mRNA transcript. The ... v t e (Genes on human chromosome 2, All stub articles, Human chromosome 2 gene stubs). ... 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs ... Family with sequence similarity 49, member A, also known as FAM49A, is a protein which in humans is encoded by the FAM49A gene ...
... is located on human Chromosome 2, at 2q31.1. It contains 10 distinct exons. The gene itself is 28,930 base pairs long ... This variant is also shorter than the other two at 1,063 base pairs. The ERICH2 protein is 436 amino acids in length, and has a ... The longest transcript variant is 1,388 base pairs in length, 1,311 of which are coding. The second variant differs from the ... Database, GeneCards Human Gene. "IWS1 Gene - GeneCards , IWS1 Protein , IWS1 Antibody". Retrieved 2017-05-07 ...
Articles with short description, Short description matches Wikidata, Genes on human chromosome, Genes on human chromosome 9, ... The molecular location of the gene is from base pair 133,189,767 to base pair 133,192,979 on chromosome 9 for an mRNA length of ... The human LOC101928193 gene is located on the long (q) arm of chromosome 9 with a cytogenic location at 9q34.2. ... and it is 1101 nucleotides long on the positive strand from base pairs 133,188,767 to 133,189,867 on chromosome 9. The ...
All hominidae have 24 pairs of chromosomes, except humans, who have only 23 pairs. Human chromosome 2 is a result of an end-to- ... containing 14 pairs of chromosomes) and Mimulus luteus (containing 30-31 pairs from a chromosome duplication), M. peregrinus ... The closest human relative, the chimpanzee, has near-identical DNA sequences to human chromosome 2, but they are found in two ... a picture of a link in humans that links two separate chromosomes in the nonhuman apes creating a single chromosome in humans. ...
Humans have a 163,255 base pair long gene coding sequence, 4703 base pair long mRNA, and 496 amino acid long protein sequence. ... TMEM104 is located on human chromosome 17 at the locus 17q25.1. TMEM104 is located between the genes NAT9 and GRIN2C. There are ... In most human tissues, TMEM104 has a modest expression level (25-50th percentile), relative to all human proteins, according to ... Articles with short description, Short description is different from Wikidata, Genes on human chromosome 17, Uncharacterized ...
Genes on human chromosome 2). ... The coding region is made up of 4292 base pairs and the protein ... KIAA1841 is expressed at low levels in a wide range of tissues throughout the human body. In humans, the KIAA1841 gene produces ... "Genecards". The Gene Human Database. "Aceview". NCBI. "Genecards". The Gene Human Database. "BLAST". NCBI. Hedges, SB. " ... Orthologs of the human protein KIAA1841 are listed above in descending order or date of divergence and then ascending order of ...
Humans have one pair fewer chromosomes than the great apes. Human chromosome 2 appears to have resulted from the fusion of two ... Humans have FN = 82, due to the presence of five acrocentric chromosome pairs: 13, 14, 15, 21, and 22 (the human Y chromosome ... The typical human karyotypes contain 22 pairs of autosomal chromosomes and one pair of sex chromosomes (allosomes). The ... The karyotype of humans includes only 46 chromosomes. The other great apes have 48 chromosomes. Human chromosome 2 is now known ...
The human TMCO6 is found on chromosome 5 (position 5q31.3). The entire gene spans 5568 base pairs on the positive strand of ... CS1 errors: missing periodical, Articles with short description, Short description matches Wikidata, Genes on human chromosome ... Variant 3 has a total length of 1,614 base pairs and differs from variant 1 because it lacks two consecutive exons. It has an ... Transmembrane and coiled-coil domain 6, TMCO6, is a protein that in humans is encoded by the TMCO6 gene with aliases of PRO1580 ...
The human protein acid transporter (hPAT1) is 5585 base pairs long and codes for a protein 476 amino acids long. The ... The hPAT1 gene is located on chromosome 5q31-33 and has 11 exons that are coding regions. Its translation site begins in exon 2 ... The SLC36 family of genes maps to chromosome 11. The diversity of these receptors is vast, with the ability to transport both ... In humans, similar expression patterns are observed and their function correlates to their location anatomically. Being located ...
... (chromosome 20 open reading frame 202) is a protein that in humans is encoded by the C20orf202 gene. In humans, this ... C20orf202 is located on the plus strand of chromosome 20 at 20p13. The gene is 4,826 base pairs long. It spans from chr20: ... "C20orf202 chromosome 20 open reading frame 202 [Homo sapiens (human)] - Gene - NCBI". Retrieved 1 May ... "C20orf202 chromosome 20 open reading frame 202 [Homo sapiens (human)] - Gene - NCBI". "Homo sapiens ...
In humans, it is encoded by the ALOX15 gene located on chromosome 17p13.3. This 11 kilobase pair gene consists of 14 exons and ... 1992) demonstrated that genes for 12-lipoxygenase and 15-lipoxygenase are located on human chromosome 17, whereas the most ... Consequently, human ALOX15 is now referred to as arachidonate-15-lipoxygenase-1, 15-lipoxygenase-1, 15-LOX-1, 15-LO-1, human 12 ... The distribution of Alox15 in sub-human primates and, in particular, rodents differs significantly from that of human ALOX15; ...
... the RNF227 gene is found on chromosome 17 p13.1. Its mRNA sequence is 2850 base pairs in length and includes 2 exons. The ... "Human BLAT Search". Retrieved 2020-12-19. (CS1 maint: url-status, All articles with dead external links, ... 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10- and 20-weeks gestational time were ... RING Finger Protein 227, also known as RNF227 and LINC02581, is a protein which in humans is encoded by the RNF227 gene. ...
... is located on chromosome 12 and is approximately 36,000 base pairs long. DBX2 is predicted to enable DNA-binding ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 12, Wikipedia articles ... incorporating text from the United States National Library of Medicine, All stub articles, Human chromosome 12 gene stubs). ... is a protein that in humans is encoded by the DBX2 gene. DBX2 plays an important role in the development of the central nervous ...
Locus The human gene WWC2 is found on chromosome 4 at band 4q35.1. The gene is found on the plus strand of the chromosome and ... is 8,822 base pairs long. The gene contains 23 exons. The WWC2 locus is quite complex and appears to produce several proteins ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 4). ... Paralogs There are two paralogs of WWC2 found in humans, WWC1 and WWC3. WWC1 is located on chromosome 5 and is a probable ...
Genes on human chromosome 18, Genes on human chromosome 2). ... Pair-wise comparison between α- and β-dystrobrevin sequences ... The human α-dystrobrevin gene is localized to chromosome 18 and consists of 23 coding exons. α-Dystrobrevin is known to be ... The human β-dystrobrevin gene was localized to the short arm of chromosome 2. ... In human, the Duchenne muscular dystrophy is a well-known muscle disease which highlights the importance of dystrophin/ ...
... strand of chromosome 13 at position 13q13.3. It spans from 39,009,865 base pairs from the pter to 39,038,095 bp from the pter, ... "GeneCards". Human Gene Database. "NCBI Gene". NCBI. "NCBI Gene". NCBI. "Uniprot". Uniprot. "Tissue Atlas". The Human Protein ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "GeneCards". Human ... According to the Human Protein Atlas, PROSER1 has general cytoplasmic expression and is expressed in all RNA tissue categories ...
Chromosome 4 open reading frame 51 (C4orf51) is a protein which in humans is encoded by the C4orf51 gene. The C4orf51 gene is ... GXP_921944 spans 1910 base pairs on chromosome 4. There are 15 coding transcripts supporting this promoter, but none are ... "C4orf51 chromosome 4 open reading frame 51 [Homo sapiens (human)] - Gene - NCBI". Retrieved 2019-05-06. " ... "C4orf51 chromosome 4 open reading frame 51 [Homo sapiens (human)] - Gene - NCBI". Retrieved 2019-04-21. ...
v t e (Use mdy dates from May 2011, Genes on human chromosome 7, Human proteins, All stub articles, Human chromosome 7 gene ... JTV1 and PMS2 are separated by approximately 200 base pairs and are arranged head-to-head. JTV1 is transcribed in the opposite ... The JTV1 gene is located on chromosome 7p22 flanked by two genes, HRI and PMS2. JTV1 and HRI overlap slightly and are arranged ... October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173-8. ...
Genes on human chromosome 2). ... It is 3,394 base pairs in length. CCDC121 produces four ... Coiled-coil domain containing 121 (CCDC121) is a protein encoded by the CCDC121 gene in humans. CCDC121 is located on the minus ... Transcripts for isoforms 1-3 are 2,880, 2,762 and 2,361 base pairs in length respectively. Each of the mRNA variants contains ... Cytochemistry studies of the Anti-CCDC121 antibody from The Human Protein Atlas indicate that CCDC121 is expressed in the ...
Articles with short description, Short description matches Wikidata, Genes on human chromosome X). ... The first ninety base pairs compose the five prime untranslated region and the last 1913 base pairs compose the three prime ... The isoelectric point of EFHC2 is estimated to be 7.13 in humans. Relative to other proteins expressed in humans, EFHC2 has ... EFHC2 is located on the negative strand (sense strand) of the X chromosome at p11.3. EFHC2 is one of a few, select number of ...
In humans, both genes are located on chromosome 2 in position 2p12. The CD8 co-receptor is predominantly expressed on the ... To function, CD8 forms a dimer, consisting of a pair of CD8 chains. The most common form of CD8 is composed of a CD8-α and CD8- ... Genes on human chromosome 2, Clusters of differentiation, Immunology, T cells). ... PDB: 1cd8​; Leahy DJ, Axel R, Hendrickson WA (March 1992). "Crystal structure of a soluble form of the human T cell coreceptor ...
Genes on human chromosome 17, Protein pages needing a picture, Human gene pages with Wikidata item, Wikipedia articles needing ... Rs727428 position 7634474 is in several percent of humans. (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 ... Hryb DJ, Nakhla AM, Kahn SM, St George J, Levy NC, Romas NA, Rosner W (July 2002). "Sex hormone-binding globulin in the human ...
It is found at human chromosome loci 3p21 on the plus strand from bases 50,277,907-50,288,116. This gene is 1,434 base pairs ... CS1 errors: missing periodical, Genes on human chromosome 3). ... In humans, LSMEM2 is found to be highly expressed in the heart ... "LSMEM2 protein (human) - STRING interaction network". Retrieved 2020-05-03. Dmitriev P, Bou Saada Y, Dib C, ... To the right is a predicted tertiary structure of the human LSMEM2 protein by the I-TASSER software. Paralogs LSMEM2 has no ...
The PRR30 gene is located on the short arm of human chromosome 2 at band 2p23.3. It flanked by Prolactin regulatory element ... PRR30 has a length of 2618 base pairs of linear DNA. The PRR30 promoter directly flanks the gene and is 1162 base pairs in ... Wikipedia articles needing clarification from May 2017, Genes on human chromosome 2, Human proteins). ... March 2007). "hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes". Genomics. 89 (3): ...
CS1 maint: url-status, Genes on human chromosome 1). ... and is 6,838 base pairs long. There are two alternate splice ... The singular human KIAA2013 promoter is a 1194 bp long sequence that precedes the gene. There are hundreds of possible ... "GXP_42188(KIAA2013/human)".{{cite web}}: CS1 maint: url-status (link) "GDS3113 / 706030". Retrieved 2021- ... The KIAA2013 gene is located on the short arm of Chromosome 1, in location 36.22 (1p36.22). It can be found on the minus strand ...
The gene product is a 6,657 base pair mRNA with 41 predicted exons in the human gene. Ensembl predicts ten alternative splice ... The predicted promoter region spans 1002 base pairs from 98,611,892 through 98,612,893 on the minus strand of chromosome 2. The ... The first spans 216 base pairs from 98,612,501 through 98,612,716. The second spans 182 base pairs from 98,612,262 through ... The human form has 1883 amino acid residues, with an isoelectric point of 8.74 and a molecular mass of 205,100 Daltons. It has ...
It is encoded by the PRR21 gene, which is found on human chromosome 2, band 2q37.3. The gene exists in several species, both ... PRR21 consists of 389 amino acids or 1170 base pairs, all found within one exon. Like other proline-rich proteins, it contains ... "Molecular Expression". (CS1: long volume value, Genes on human chromosome 2, Salivary proline-rich proteins). ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "GeneCards". " ...
... known interacting protein pairs) and a negative set (non-interacting protein pairs) is needed for the development of a ... The Conserved Neighborhood method is based on the hypothesis that if genes encoding two proteins are neighbors on a chromosome ... Prediction databases include many PPIs that are predicted using several techniques (main article). Examples: Human Protein- ... and humans.[44] In such studies, numerous mutations defective in the same gene were often isolated and mapped in a linear order ...
UniProt employs an "organism mnemonic" of not more than five alphanumeric characters, e.g., HUMAN for H. sapiens.[115] ... Reproductive isolation is threatened by hybridisation, but this can be selected against once a pair of populations have ... sets of chromosomes) and allozymes (enzyme variants).[46] ... using regions of about 10,000 base pairs. With enough data from ... Conserving Biodiversity in Human-Dominated Landscapes. Washington: Island Press. pp. 150-163. Archived from the original on 7 ...
Other designs may include a line along the bridge of the nose, or a single pair of small symmetical dots on the cheeks. ... Jared Diamond, 'Guns, Germs, and Steel: The Fates of Human Societies' (1997) Chapter 19 ... "Y-Chromosome Variation Among Sudanese: Restricted Gene Flow, Concordance With Language, Geography, and History" Archived 2016- ... Hausa emblem[1][2] is an older and traditionally established emblem of Hausa identity - the 'Dagin Arewa' or 'Northern knot' - ...
Therman, Eeva (১৯৮০)। Human Chromosomes: Structure, Behavior, Effects। Springer US। পৃষ্ঠা 112-24। আইএসবিএন 978-1-4684-0109-7। ... Machin, GA (জানুয়ারি ১৯৯৬)। "Some causes of genotypic and phenotypic discordance in monozygotic twin pairs"। American Journal ... "Human Anatomy"। Inner Body। সংগ্রহের তারিখ ৬ জানুয়ারি ২০১৩।. *↑ Parker-Pope, Tara (অক্টোবর ২৭, ২০০৯)। "The Human Body Is Built ... "The Science Behind the Human Genome Project"। Human Genome Project। US Department of Energy। ২ জানুয়ারি ২০১৩ তারিখে মূল থেকে ...
Empathy allows humans to experience love and to build bonds. The moral that humans gain from empathy allow them to repair and ... Throughout much of the life course, it serves mate choice, courtship, sex, and pair-bonding functions. It is a suite of ... Evolution of human music through sexual selection by G. F. Miller in N. L. Wallin, B. Merker, & S. Brown (Eds.), The origins of ... The Mating Mind: How Sexual Choice Shaped the Evolution of Human Nature Archived 15 May 2007 at the Wayback Machine by Geoffrey ...
"Human Molecular Genetics. 10 (16): 1665-71. doi:10.1093/hmg/10.16.1665. PMID 11487570.. ... One sensitive method is ELISA which is an immunosorbent assay which utilizes a pair of antibodies that recognize amyloid beta.[ ... The gene for the amyloid precursor protein is located on chromosome 21, and accordingly people with Down syndrome have a very ... To date, human testing has been avoided due to concern that it might interfere with signaling via Notch proteins and other cell ...
"List Of All Transcription Factors In Human". *^ Gill G (2001). "Regulation of the initiation of eukaryotic ... Transcription factors (like all proteins) are transcribed from a gene on a chromosome into RNA, and then the RNA is translated ... Pairs of transcription factors and other proteins can play antagonistic roles (activator versus repressor) in the regulation of ... There are up to 1600 TFs in the human genome.[3] Transcription factors are members of the proteome as well as regulome. ...
Anatomy of the Human Body. Chap. IX: Neurology. 22th Edition (en anglès). Lea & Febiger, Philadelphia, 1918 [Consulta: 3 ... Ambros IM, Zellner A, Roald B, Amann G, et al «Role of ploidy, chromosome 1p, and Schwann cells in the maturation of ... Trochet, D; Bourdeaut, F; Janoueix-Lerosey, I; Deville, A; et al «Germline Mutations of the Paired-Like Homeobox 2B (PHOX2B) ... Moore, Keith L. The Developing Human. Clinically Oriented Embryology. Chapter 18: The Nervous System (en anglès). Ed. W.B. ...
Males ordinarily have a ZZ pair of sex-determining chromosomes, and females a ZW pair. However, the Colombian Rainbow boa ( ... Interactions with humans. Most common symptoms of any kind of snake bite envenomation.[109][110] Furthermore, there is vast ... Some species retain a pelvic girdle with a pair of vestigial claws on either side of the cloaca. Lizards have evolved elongate ... In some snakes, most notably boas and pythons, there are vestiges of the hindlimbs in the form of a pair of pelvic spurs. These ...
... a genome project will aim to map the sequence of that chromosome. For the human species, whose genome includes 22 pairs of ... "Potential Benefits of Human Genome Project Research". Department of Energy, Human Genome Project Information. 2009-10-09. ... For humans, this will allow us to better understand aspects of human genetic diversity. ... "National Human Genome Research Institute (NHGRI). Retrieved 19 April 2018.. *^ Scott, Alison D; Zimin, Aleksey V; Puiu, Daniela ...
"American Journal of Human Genetics. 74 (5): 1043-50. doi:10.1086/386293. PMC 1181967. PMID 15042511.. ... Heterozygous mutations in PAX9 (paired box gene 9) could arrest tooth morphogenesis as it plays a role of transcription the ... "A locus for autosomal recessive hypodontia with associated dental anomalies maps to chromosome 16q12.1". American Journal of ... "Journal of Human Genetics. 51 (3): 262-6. doi:10.1007/s10038-005-0353-6. PMID 16432638.. ...
Zhang Z, Gerstein M (2004). "Large-scale analysis of pseudogenes in the human genome". Curr. Opin. Genet. Dev. 14 (4): 328-35. ... Radding C (1982). "Homologous pairing and strand exchange in genetic recombination". Annu. Rev. Genet. 16 (1): 405-37. doi: ... "Genome fragment of Wolbachia endosymbiont transferred to X chromosome of host insect". Proc. Natl. Acad. Sci. U.S.A. 99 (22): ... Is the human race evolving or devolving? Scientific American July 20, 1998. ...
A 2007 study flow sorted camel chromosomes, building on the fact that camels have 37 pairs of chromosomes (2n=74), and found ... 2007). "Cross-species chromosome painting among camel, cattle, pig and human: further insights into the putative ... When humans first domesticated camels is disputed. Dromedaries may have first been domesticated by humans in Somalia or South ... The Y is a small metacentric chromosome, while the X is a large metacentric chromosome.[52] ...
An additional pair was released to increase genetic diversity in 2016.[62][63] As part of a scientific study, a pair of ... The difference in chromosome count makes interspecific breeding unlikely in areas where the two species' ranges overlap.[3] ... The Eurasian beaver is recovering from near extinction, after depredation by humans for its fur and for castoreum, a secretion ... On 19 November 2011, a pair of beaver sisters was released into a 2.5-acre (1 ha) enclosure at Blaeneinion,[97] A colony of ...
Number of chromosomes. 24 pairs. Year of completion. 2011. Orangutans have 48 chromosomes.[23] The Sumatran orangutan genome ... This remains the only known case, but raises the question of why the known human cure for Streptococcus was ineffective in this ... They are extremely large animals, weighing between 50 and 90 kilograms, roughly the weight of a fully grown human. They have a ... The orangutan genome also has fewer rearrangements than the chimpanzee/human lineage.[24] ...
... s that reflect the full range of visible light are generally perceived as white by a human observer. An important feature ... they are often paired with an external vector.[94] ... two copies of each chromosome) cell.[78] ... Humans observers will perceive this as degrees of saturation (the amount of white in the color). ... History shows that flowers have been used by humans for thousands of years, to serve a variety of purposes. An early example of ...
The haploid genome is about three billion base pairs long (3,000 Mb distributed over 19 autosomal chromosomes plus 1 ... Mice differ from humans in several immune properties: mice are more resistant to some toxins than humans; have a lower total ... The current count of primary coding genes in the laboratory mouse is 23,139.[12] compared to an estimated 20,774 in humans.[12] ... Benatar M (April 2007). "Lost in translation: treatment trials in the SOD1 mouse and in human ALS". Neurobiology of Disease. 26 ...
When the chromosome is replicated, this gives rise to one daughter chromosome that is heavily methylated downstream of the ... In MMEJ repair of a double-strand break, an homology of 5-25 complementary base pairs between both paired strands is sufficient ... In human cells, and eukaryotic cells in general, DNA is found in two cellular locations - inside the nucleus and inside the ... In human cells, oxidative DNA damage occurs about 10,000 times a day and DNA double-strand breaks occur about 10 to 50 times a ...
Stewart, Dugald (1792). Elements of the philosophy of the human mind (1 ed.). p. 80. Retrieved 14 April 2022.. ... These conditions are mediated by the OPN1SW gene on Chromosome 7. Other genetic causes[edit]. Several inherited diseases are ... Confusion colors are pairs or groups of colors that will often be mistaken by the colorblind. Confusion colors for red-green ... 112 (2): 81-4. doi:10.1038/ PMID 9581449.. *^ a b c d e f g h i j k l m n o p q r s t u v "Facts About Color ...
For example, in the Homininae, two chromosomes fused to produce human chromosome 2; this fusion did not occur in the lineage of ... HIV resistance: a specific 32 base pair deletion in human CCR5 (CCR5-Δ32) confers HIV resistance to homozygotes and delays AIDS ... In humans, the mutation rate is about 50-90 de novo mutations per genome per generation, that is, each human accumulates about ... Ségurel L, Bon C (August 2017). "On the Evolution of Lactase Persistence in Humans". Annual Review of Genomics and Human ...
In humans, DNA polymerase theta, encoded by the POLQ gene, plays a central role in microhomology-mediated end joining.[7] ... MMEJ is frequently associated with chromosome abnormalities such as deletions, translocations, inversions and other complex ... often 5-25 base pairs, between the two strands. A specialized form of MMEJ, called polymerase theta-mediated end-joining (TMEJ ... Human homologous recombination factors suppress mutagenic MMEJ following double-strand break resection.[8] ...
Svendsen G. E. (1989). "Pair formation, duration of pair-bonds, and mate replacement in a population of beavers (Castor ... Relationship with humans[edit]. As introduced non-native species[edit]. See also: Beaver eradication in Tierra del Fuego ... North American beavers have 40 chromosomes, while European beavers have 48. Also, more than 27 attempts were made in Russia to ... Although the fur enterprise failed, 25 mating pairs of beavers were released into the wild. Having no natural predators in ...
... is found on chromosome 14, and the loci containing lambda and kappa light chain genes ([email protected] and [email protected]) are found on chromosomes ... In humans and most mammals, an antibody unit consists of four polypeptide chains; two identical heavy chains and two identical ... whose flexibility allows antibodies to bind to pairs of epitopes at various distances, to form complexes (dimers, trimers, etc ... Rhoades RA, Pflanzer RG (2002). Human Physiology (5th ed.). Thomson Learning. p. 584. ISBN 978-0-534-42174-8. .. ...
... of a chromosome pair). So, finding a few alleles of a haplotype sequence identifies all other sites in its region. Such ... "A haplotype map of the human genome" (PDF). Nature. 437 (7063): 1299-1320. Bibcode:2005Natur.437.1299T. doi:10.1038/ ... linked genes on a chromosome. A cluster is usually inherited together.[1] Put simply, haplotype is a closely-knit group of ... genes which a child inherits from one parent.[2] A second meaning of the term haplotype is a set of single-nucleotide ...
V. faba has a diploid (2n) chromosome number of 12 (six homologous pairs). Five pairs are acrocentric chromosomes and one pair ... In much of the English-speaking world, the name "broad bean" is used for the large-seeded cultivars grown for human food, while ... It is widely cultivated as a crop for human consumption, and also as a cover crop. Varieties with smaller, harder seeds that ... Beans generally contain phytohaemagglutinin, a lectin that occurs naturally in plants, animals, and humans.[18] Most of the ...
"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. ... "Human Biology Open Access Pre-Prints. 85 (6).. *^ Eva Fernández; Alejandro Pérez-Pérez; Cristina Gamba; Eva Prats; Pedro Cuesta ... "The American Journal of Human Genetics. 83 (6): 725-736. doi:10.1016/j.ajhg.2008.11.007. PMC 2668061. PMID 19061982.. ...
"The terminal deoxynucleotidyltransferase gene is located on human chromosome 10 (10q23----q24) and on mouse chromosome 19". ... This occurs optimally with a one base-pair break between strands and less so with an increasing gap. This is facilitated by a ... "Chromosome localization of the gene for human terminal deoxynucleotidyltransferase to region 10q23-q25". Proceedings of the ... In humans, terminal transferase is encoded by the DNTT gene.[5][6] As a member of the X family of DNA polymerase enzymes, it ...
The International System for Human Cytogenomic Nomenclature (ISCN) is an international standard for human chromosome ... It shows 22 homologous autosomal chromosome pairs as well as both the female (XX) and male (XY) versions of the two sex ... symbols and abbreviated terms used in the description of human chromosome and chromosome abnormalities. Abbreviations include a ... Human karyotype with annotated bands and sub-bands as used for the nomenclature of chromosome abnormalities. It shows dark and ...
... hae 64 chromosomes.[35] The horse genome wis sequenced in 2007. It conteens 2.7 billion DNA base pairs,[36] that is ... Horse are nae ruminants, thay hae anerly oane painch, lik humans, but unlik humans, thay can utilize cellulose, a major ... The exterior huif waw an horn o the sole is made o keratin, the same material as a human fingernail.[60] The end result is that ... Unlik humans, horse dae nae sleep in a solit, unbroken period o time, but tak mony short periods o rest. Horse spend fower tae ...
The pair of derivative inverted conditional opinions is denoted (. ω. A. ,. ~. B. S. ,. ω. A. ,. ~. ¬. B. S. ). {\displaystyle ... Allen, Richard (1999). David Hartley on Human Nature. SUNY Press. pp. 243-4. ISBN 978-0-7914-9451-6. . Retrieved 16 June 2013. ... located on the q arm of chromosome 7.[30] ... denotes a pair of binomial conditional opinions given by source ... 2. ). =. P. (. A. 1. ). P. (. A. 2. ). ,. {\displaystyle O(A_{1}:A_{2})={\frac {P(A_{1})}{P(A_{2})}},}. O. (. A. 1. :. A. 2. ∣ ...
Chromosomes, Human, Pair 2* * Cloning, Molecular * DNA, Complementary * Gene Expression Regulation, Developmental ... ALK, the chromosome 2 gene locus altered by the t(2;5) in non-Hodgkins lymphoma, encodes a novel neural receptor tyrosine ... Here, we characterize a full-length normal human ALK cDNA and its product, and determine the pattern of expression of its ... 2;5) chromosomal rearrangement associated with non-Hodgkins lymphoma, but further insights into its normal structure and ...
It is the building block of the human body. ... Chromosomes are structures found in the center (nucleus) of ... Chromosomes come in pairs. Normally, each cell in the human body has 23 pairs of chromosomes (46 total chromosomes). Half come ... The remaining chromosomes are called autosomal chromosomes. They are known as chromosome pairs 1 through 22. ... Two of the chromosomes (the X and the Y chromosome) determine your sex as male or female when you are born. They are called sex ...
Categories: Chromosomes, Human, Pair 18 Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ...
Chromosomes, Human, Pair 11. 1. 2009. 423. 0.080. Why? Receptors, G-Protein-Coupled. 1. 2015. 1185. 0.080. Why? ...
keywords = "Aged, Amino Acids, Biomarkers, Cholesterol, HDL, Chromosomes, Human, Pair 1, Coronary Disease, DNA, Intergenic, ... AIMS: An intergenic locus on chromosome 1 (lead SNP rs10911021) was previously associated with coronary heart disease (CHD) in ... N2 - AIMS: An intergenic locus on chromosome 1 (lead SNP rs10911021) was previously associated with coronary heart disease (CHD ... AB - AIMS: An intergenic locus on chromosome 1 (lead SNP rs10911021) was previously associated with coronary heart disease (CHD ...
Chromosomes, Human, Pair 13 28% * Chromosomes, Human, Pair 2 27% * Mouse Embryonic Stem Cells 25% ... Cre-mediated site-specific translocation between nonhomologous mouse chromosomes. J. Van Deursen, M. Fornerod, B. Van Rees, G. ... Dive into the research topics of Cre-mediated site-specific translocation between nonhomologous mouse chromosomes. Together ...
Jeffrey Tomkins published Combinatorial genomic data refute the human chromosome 2 evolutionary fusion and build a model of ... of a hypothetical pristine fusion of the same size based on a pair- ... 2q14.1 and paralogous regions on other human chromosomes. Genome Tomkins ◀Interstitial telomeres and chromosome 2 fusion ▶ 2018 ... Similarly, the c-fos oncogene, which has been mapped to human chromosome 14 and mouse chromosome 12, is proximal to the heavy ...
... each chromosome will be paired one from mother and father ... Chromosomes are contained in the nucleus of a cell, spread out ... Starts with one human cell containing 46 chromosomes. Ends up with 4 cells each containing 23 chromosomes. ... called X chromosome and 46 would be called a Y chromosome.. If this cell was from a female, 45 would be called X chromosome and ... The pairs carry the same type of genes along their length. Within each pair you inherit one chromosome from your mother and one ...
2nd link is NIH human genetic sequence code (chromosome 8). They match 18 base pairs in a row. Please read and spread info.!!! ... At the time, the first/top sequences that showed up were all human chromosome sequences. A few weeks later I did it again and ... Virtually ALL the pcr primers being used to "detect covid-19" have 100% sequence identity with human chromosomal sequences. ... the human DNA sequences were still there at 100% match, they just arranged for the covid 19 crap to appear first.. ...
We noted in both populations that primer pair 1 sometimes amplified a region of human genomic DNA from chromosome 6 (GQ497714 ... followed by pair 7 (n = 40), pair 5 (n = 36), and pair 8 (n = 31). Most notably, primer pair 7 performed better than it had in ... Distribution of human rhinovirus (HRV) and human enterovirus (HEV) sequences used for primer pair studies. The HRV and HEV ... Distribution of human rhinovirus (HRV) and human enterovirus (HEV) sequences used for primer pair studies. The HRV and HEV ...
Chromosomes, Human, Pair 17 Medicine & Life Sciences 83% * Breast Neoplasms Medicine & Life Sciences 63% ... Thirty-eight samples were immunonegative: 18 exhibited chromosome 17 polysomy, 9 monosomy and 11 no alterations. Samples having ... Thirty-eight samples were immunonegative: 18 exhibited chromosome 17 polysomy, 9 monosomy and 11 no alterations. Samples having ... Thirty-eight samples were immunonegative: 18 exhibited chromosome 17 polysomy, 9 monosomy and 11 no alterations. Samples having ...
Chromosomes, Human, Pair 2 Medicine & Life Sciences 10% * Gene Fusion Medicine & Life Sciences 4% ... Genome-wide copy number variants were found in multiple chromosome arms and the short arm of chromosome 2, suggestive of ... Genome-wide copy number variants were found in multiple chromosome arms and the short arm of chromosome 2, suggestive of ... Genome-wide copy number variants were found in multiple chromosome arms and the short arm of chromosome 2, suggestive of ...
Damage to the chromosomes; and 4. Mitochondrial genetic inheritance disorders. Examples of genetic diseases or disorders ... The human genome is made up of the 46 human chromosomes (22 pairs of autosomal chromosomes and 2 sex chromosomes). These 46 ... The human genome is made up of the 46 human chromosomes (22 pairs of autosomal chromosomes and 2 sex chromosomes). These 46 ... Genetic Diseases - Chromosome Abnormalities Which genetic disease with chromosome abnormalities do you or someone you know have ...
Human, Pair 4" by people in this website by year, and whether "Chromosomes, Human, Pair 4" was a major or minor topic of these ... A specific pair of GROUP B CHROMOSOMES of the human chromosome classification. ... "Chromosomes, Human, Pair 4" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 4" by people in Profiles. ...
Human, Pair 7" by people in this website by year, and whether "Chromosomes, Human, Pair 7" was a major or minor topic of these ... A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. ... "Chromosomes, Human, Pair 7" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 7" by people in Profiles. ...
Human, Pair 19" by people in this website by year, and whether "Chromosomes, Human, Pair 19" was a major or minor topic of ... A specific pair of GROUP F CHROMOSOMES of the human chromosome classification. ... "Chromosomes, Human, Pair 19" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 19" by people in Profiles. ...
The workflow requires an input of: a chromosome name or number; a QTL start base pair position; QTL end base pair position. ... As the Cow genome is currently unfinished, the workflow subsequently maps the cow ensembl gene ids to human orthologues. Entrez ... Only the first 2 workflows that use similar services are shown. View all workflows that use these services. ...
CHAPTER 7 Knowing Necessary Data Is Everything in Data Analytics Necessary Human DNA Is Only 2 Percent The Human Genome Project ... The Human Genome Project is the project to analyze all nucleotide sequences of chromosomes that determine human genes, which ... As a result, three billion pairs of DNA nucleotide sequence data, a human genetic blueprint, was cataloged with an accuracy of ... That is, humans have been converted to data.. Many scientists declared that this was an "important gift to humanity" and " ...
Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms tumor locus. Cell. Feb 1990. ... Ton CCT, Hirvonen H, Miwa H. Positional cloning and characterization of a paired box- and homeobox-containing gene from the ... Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. Am J Med Genet A. Mar ... Subject A has a large deletion on chromosome 11 that removes one copy of the BDNF gene. Subject B has a smaller deletion that ...
In the human genome, FURIN and FES are located adjacent to one another on the distal q arm of human chromosome 15 (HSA15) in ... Technical Abstract: Fragment of the porcine feline sarcoma oncogene (FES) gene and paired basic amino acid cleaving enzyme gene ... In the human genome, FURIN and FES are located adjacent to one another on human chromosome 15q26. These genes were expected to ... Title: MAPPING OF THE FES AND FURIN GENES TO PORCINE CHROMOSOME 7 Author. ERNST, C.W. ...
Chromosomes, Human, Pair 4 24% * Quantitative Trait Loci 23% * Inbred Strains Mice 23% ... Human ALOX12, but not ALOX15, is associated with BMD in white men and women. Ichikawa, S., Koller, D. L., Johnson, M. L., Lai, ... Ethanol inhibits human osteoblastic cell proliferation. Klein, R. F., Fausti, K. A. & Carlos, A. S., 1996, In: Alcoholism: ... A loss-of-function nonsynonymous polymorphism in the osmoregulatory TRPV4 gene is associated with human hyponatremia. Tian, W. ...
... we analysed two real paired tumour-blood targeted deep sequencing datasets targeting loci on chromosome 17 and chromosome 22 ... To achieve this for a given consensus pair, the control consensus sequence is mapped to the human reference genome using ... False positives are removed by consensus pair filtering. d Finally, SNVs are called using control consensus pairs as proxies to ... c Third, consensus pairs (labelled T,C-pairs in diagram) are constructed from variant blocks and from control reads covering ...
This meta-analysis has led to identification of a novel region on chromosome 17 linked to type 2 diabetes; this region has not ... with the strongest evidence on chromosome 17p11.2-q22 (P=0.0016), followed by 2p22.1-p13.2 (P=0.027), 1p13.1-q22 (P=0.028), ... These included the Botnia I and Botnia II scans, with respectively 58 and 353 pedigrees from Finland and Sweden, the Warren 2 ... To improve our ability to detect and prioritize chromosomal regions containing type 2 diabetes susceptibility genes, the GIFT ...
A human teratoma cell culture system that can be used to detect a variety of chemical mutagens was described. The system used ... chromosome, rendered the cells resistant to the nucleic acid analogue 6-thioguanine (thioguanine). The loss of HGPRT enzyme ... activity could arise from a variety of genetic insults at this locus, including frameshift mutations, base pair substitutions, ... Human Teratoma Cell Culture System For The Presceening Of Environmental Chemicals That May Initiate Or Promote Tumor Formation ...
Humans have 23 pairs of chromosomes that store genetic information: 22 pairs are called autosomal chromosomes, and one pair is ... Autosomal means that the defective gene is present on autosomal chromosomes, and dominant means that the disease will manifest ... Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome ... Stage 2 hypertension is considered 140/90 mm Hg. or greater.. If you have high blood pressure you are at risk of developing ...
Chromosomes. National Human Genome Research Institute (NHGRI), National Institute of Health (NIH), Bethesda, Maryland, USA. ... The fruit fly has only 4 pairs of chromosomes [3], many of which are large, making it easy to locate mutations [4] and ... The homology of cancer and disease related genes found in both the genomes of D. melanogaster and humans is significant [7, 8 ... Reiter LT, Potocki L, Chien S, Gribskov M, and Bier E: A Systematic Analysis of Human Disease-Associated Gene Sequences In ...
I think the speculation that Jesus human nature, which contains the XY chromosome, must be from Mary so that all his human ... It also suggests problems in the newborn, since the pairing of the chromosomes are from the same genetic source. I should say ... then the biological aspects of Christ are 45 out of 46 chromosomes directly human from Davids loins, the last chromosome ... but rather Christ would be only 45/46 human traceable to Davids loins because our DNA is made up of 23 pairs; this would mean ...
Wang, X., Wu, Q. & Yoon, S., 2019, In: Child Psychiatry & Human Development. 50, 4. Research output: Contribution to journal › ... Pets and Human Diversity: Toward Culturally Competent, Culturally Humble Psychotherapy. Smith, Y., Jan 1 2019, Clinicians ... Kim, J. & James, J. D., Mar 1 2019, In: Journal of Sport Management. 33, 2, p. 119-132 14 p.. Research output: Contribution to ... Vasilenko, S. A. & Espinosa-Hernández, G., Jun 2019, In: Journal of Research on Adolescence. 29, 2, p. 414-428 15 p.. Research ...
Human chromosomes weigh about 20 times heavier than the DNA within them. So wheres all this extra mass coming from? How much ... Each human cell normally contains 23 pairs of chromosomes. Within each chromosome is one DNA molecule and a plethora of ... a team of researchers recently measured the mass of the 46 human chromosomes.. The results were surprising: Each chromosome was ... Human chromosomes weigh about 20 times heavier than the DNA within them. So wheres all this extra mass coming from?. How much ...
  • human chromosome 2 are situated inside active genes negating the idea of fusion. (
  • The pairs carry the same type of genes along their length. (
  • The RMDN2 gene locates at the short arm of chromosome 2 between ALK and EML4 genes. (
  • These 46 chromosomes together contain over 3 billion base pairs of DNA that contain about 20,500 protein-coding genes. (
  • The actual protein-coding genes account for less than 5% of the human genome. (
  • Analysis of positional candidate genes in the AAA1 susceptibility locus for abdominal aortic aneurysms on chromosome 19. (
  • The Human Genome Project is the project to analyze all nucleotide sequences of chromosomes that determine human genes, which scientists in six countries, including the US and Japan, began in 1990 and finished in 2003. (
  • Two genes feline sarcoma oncogene (FES) and paired basic amino acid cleaving enzyme gene (FURIN) were mapped in the genome of the pig. (
  • These genes were expected to map to a segment of pig chromosome 7 containing several QTL associated with body composition. (
  • Both genes mapped to the pig chromosome 7 within the confidence interval of the body composition QTL. (
  • Localizing these genes in the pig genome improves the human-pig comparative map thus facilitating identification of positional candidate genes to study which affect fat deposition. (
  • In the human genome, FURIN and FES are located adjacent to one another on the distal q arm of human chromosome 15 (HSA15) in the cytogenetic band q26.1 Genes located in this region are conserved on the proximal q arm of SSC7. (
  • In addition, FES and FURIN map within the confidence intervals of several putative QTL for pig fatness traits, and mapping of FES and FURIN to this region improves the human-pig comparative map for HSA15 and SSC7 thus facilitating identification of positional candidate genes. (
  • To improve our ability to detect and prioritize chromosomal regions containing type 2 diabetes susceptibility genes, the GIFT consortium has implemented a meta-analysis of four scans conducted in European samples. (
  • Its genome is fully sequenced and the disease related genes show appreciable homology to those of humans. (
  • The homology of cancer and disease related genes found in both the genomes of D. melanogaster and humans is significant [7, 8]. (
  • Daisy, or any other cow, for that matter, has approximately 22,000 genes arranged on 60 chromosomes-or 30 pairs, one of each pair from each parent. (
  • However, these protein-coding genes make up only 2% of total human DNA. (
  • The 5,874 genes encoded on chromosome 5 reveal several new functions in plants, and the patterns of gene organization provide insights into the mechanisms and extent of genome evolution in plants. (
  • Each chromosome contains a few thousand genes, which range in size from a few thousand bases up to 2 million bases. (
  • An ordered-subsets analysis based on families with high or low diabetes-related quantitative traits yielded results that support the possible existence of disease-predisposing genes on chromosomes 6 and 10. (
  • hypothesized that spermatocyte mortality resulted from the failure to shut down the genes on the X and Y chromosomes, which can also be lethal for the cells. (
  • In humans, genes vary in size from a few hundred DNA bases to more than 2 million bases. (
  • A chromosome consists of a long strand of DNA containing many genes. (
  • A human chromosome can have up to 500 million base pairs of DNA with thousands of genes. (
  • Humans have approximately 20,000 protein-coding genes. (
  • Each chromosome in a given homologous pair represents the same genes, but with different expressions (called alleles ) of those genes. (
  • The interaction of genes with each other and with environmental factors underlies many aspects of human health and disease. (
  • These conditions are described as genetic diseases because a defect in one or more genes or chromosomes leads to a pathological condition. (
  • Biologist Ann Gauger looked at one of the initially strongest arguments against Adam and Eve from human genetic diversity (HLA genes) and found the evidence is compatible with our descending from an initial couple. (
  • However, the human X chromosome bears numerous important genes-including more "immune response" genes than any other chromosome-which makes its exclusion irresponsible when sex differences across human diseases are widespread. (
  • Here the genetic factors can influence the development of a variety of neurologic disorders that are typically inherited from parents through genes and chromosomes. (
  • Changes in chromosomes, whether in number or in structure, have large effects on characteristics because they contain large numbers of genes. (
  • This result in a loss of genes from a chromosome. (
  • Humans, for example, have 20 times more genes than prokaryotes have. (
  • Each chromosome has a set of genes. (
  • Genetic disorders can range from a defect in a single base mutation in the DNA of one gene to chromosomal abnormalities that involve deletion or addition of entire chromosomes or sets of chromosomes. (
  • X-linked disorders refer to diseases for which the defective gene is present on the female (X) chromosome. (
  • Human ornithine decarboxylase-encoding loci: nucleotide sequence of the expressed gene and characterization of a pseudogene. (
  • Cow-Human Ortholog Pathways and Gene annot. (
  • As the Cow genome is currently unfinished, the workflow subsequently maps the cow ensembl gene ids to human orthologues. (
  • Fragment of the porcine feline sarcoma oncogene (FES) gene and paired basic amino acid cleaving enzyme gene (FURIN) were amplified and terminally sequenced. (
  • The FES gene was mapped to chromosome 7 position 82 cM. (
  • Autosomal means that the defective gene is present on autosomal chromosomes, and dominant means that the disease will manifest even if a single defective gene is present. (
  • It is caused by a defective NF2 gene that codes for a protein called the intracellular membrane-associated protein neurofibromin-2. (
  • The DNA molecule consists of a string of four chemical "bases," adenosine (A), thymidine (T), guanine (G), and cytosine (C). To form the characteristic DNA double helix, hydrogen bonds form between the paired bases, A with T and G with C. A gene is a specific string of these paired bases that provides instructions for making or regulating a particular product, such as a hormone or enzyme. (
  • HOXD gene cluster maps to chromosome 2q31 and plays a key role in embryonic limb morphogenesis. (
  • In addition, dysregulation of HOXD gene cluster has been proposed to account for the limb abnormalities in patients with chromosome 2q rearrangements. (
  • The delineation of the microdeletion region may contribute to the genotype-phenotype correlation study in patients with genomic rearrangements of the long arm of chromosome 2 and helps to understand the pathogenesis of haploinsufficiency of the HOXD gene cluster. (
  • The mature larvae show giant chromosomes in the salivary glands called polytene chromosomes -"puffs" indicate regions of transcription and hence gene activity. (
  • In humans, PTPN1, the gene coding for PTP-1B, is located on human chromosome 20q13. (
  • Several evidences support the notion that PTP1B is a negative regulator of cell growth, although loss of function mutations and gene silencing have not been found in human cancer. (
  • gene, unit of hereditary information that occupies a fixed position (locus) on a chromosome. (
  • 2. Nuclear transfer is a technique used to duplicate genetic material by creating an embryo through the transfer and fusion of a diploid cell in an enucleated female oocyte.2 Cloning has a broader meaning than nuclear transfer as it also involves gene replication and natural or induced embryo splitting (see Annex 1). (
  • Mutations in the chromosome pairing gene FKBP6 are not a common cause of non-obstructive azoospermia. (
  • FANCB is the one exception to FA being autosomal recessive , as this gene is on the X chromosome. (
  • Human DNA gene sequencing has long been known for Chromosome 8, commonly known as the God Gene for its specific effect on Human Behaviors (see definition in next section). (
  • The PCR test template (gene sequence) for the "lab test" also is the same as that found on Chromosome 8, and it has also been found in Swabs used to collect nasal cell samples. (
  • And while half of my chromosomes are Clutter Monkey, my husband got the gene from both sides. (
  • The first step in dna splicing is to locate a specific gene of interest on a chromosome. (
  • The structural chromosome alterations may arise at the chromosome level (e.g., translocations and gains or losses of large portions of chromosomes) or at the nucleotide level, which influence gene structure or expression such as mutations, insertions, deletions, gene amplifications, and gene silencing by epigenetic effects ( Jefford and Irminger-Finger, 2006 ). (
  • Chromosome and gene. (
  • The gene defect is located on chromosome 8, characterized as the intestinal zinc transporter gene ( ZIP4 ), or SLC39A4 gene, at locus 8q24.3. (
  • The remaining chromosomes are called autosomal chromosomes. (
  • The human genome is made up of the 46 human chromosomes (22 pairs of autosomal chromosomes and 2 sex chromosomes). (
  • Humans have 23 pairs of chromosomes that store genetic information: 22 pairs are called autosomal chromosomes, and one pair is called sex chromosomes. (
  • Humans have 46 chromosomes in each cell of their body and 23 pairs of autosomal chromosomes, and one pair of sex chromosomes, either X or Y, that are found in the nucleus of every cell (23 + 1 = 46). (
  • We have 23 pairs of autosomal chromosomes, two sex chromosomes, and one pair of gender-determining chromosomes. (
  • Anaplastic Lymphoma Kinase (ALK) was originally identified as a member of the insulin receptor subfamily of receptor tyrosine kinases that acquires transforming capability when truncated and fused to nucleophosmin (NPM) in the t(2;5) chromosomal rearrangement associated with non-Hodgkin's lymphoma, but further insights into its normal structure and function are lacking. (
  • The loss of HGPRT enzyme activity could arise from a variety of genetic insults at this locus, including frameshift mutations, base pair substitutions, chromosomal aberrations, and deletions. (
  • The researchers applied a method called 'Hi-C' (High-throughput Chromosome Conformation Capture) to samples from patients with developmental disorders suspected to be caused by chromosomal rearrangements. (
  • The classical analysis of chromosomal defects is done by a karyogram, which is a microscopic view of stained chromosomes. (
  • Many FA patients (about 30%) do not have any of the classic physical findings, but diepoxybutane chromosome fragility assay showing increased chromosomal breaks can make the diagnosis. (
  • 2005). In another model, such chromosomal indicators promote MT development inside the clusters of PM chromosomes, accelerating the primarily lateral MTCkinetochore attachments in PM (Magidson et al. (
  • As a major form of genomic instability, chromosomal instability comprises aberrant chromosome numbers (i.e., aneuploidy or polyploidy) and structural changes in chromosomes. (
  • Diploid organisms, such as humans, have chromosomes that come in homologous pairs (except for the sex chromosomes), with each parent contributing one chromosome per homologous pair. (
  • For researchers who wish to convert T/S ratio to base pairs (bp), the formula is (3,274 + 2,413 * (T/S)). The conversion from T/S ratio to bp is calculated based on comparison of telomeric restriction fragment (TRF) length from Southern blot analysis and T/S ratios using DNA samples from the human diploid fibroblast cell line IMR90 at different population doublings. (
  • HG consists of 23 pairs of chromosomes existing in all diploid cells of human beings, where DNA is found and all genetic features of an individual is stored 6 . (
  • As for diploid or polyploid organisms, we generally assemble one set of chromosomes. (
  • Human genetic information is contained within the 23 chromosomes found in nearly every cell of the human body The chromosomes contain DNA, which is arranged in a very specific linear sequence of three billion chemical base pairs that are organized in a double helix configuration. (
  • The human genome, with 3 billion base pairs can store up to 750MB of data. (
  • The chromosome pairs average about 1.1 million base pairs or nearly 6 feet long. (
  • They can even range from as small as 600,000 base pairs (2 feet) to over 2 million base pairs in some individuals! (
  • Sep 22, 2022 Telomere vesicles retained the Rad51 recombination factor that enabled telomere fusion with T-cell chromosome ends lengthening them by an average of 3,000 base pairs. (
  • While comparisons across studies of telomere length in base pairs are commonly done, it is not highly accurate. (
  • When DNA replicates, instead of a G opposite what was C, DNA polymerase adds an A (base-pairs with U). (
  • This alteration has the same result as a spontaneous deamination: instead of a G, DNA polymerase inserts an A (base-pairs with U). (
  • The frequency of mutation is usually much lower than one mutation per 104 base pairs per DNAduplication, and sometimes as low as one mutation per 109 base pairs per duplication. (
  • The Human Genome Project (HGP) was an international scientific effort to sequence the entire human genome, that is, to produce a map of the base pairs of DNA in the human chromosomes, most of which do not vary among individuals. (
  • Each human cell normally contains 23 pairs of chromosomes. (
  • Chromosomes also contain proteins that help DNA exist in the proper form. (
  • Within each chromosome is one DNA molecule and a plethora of proteins that serve a variety of functions, such as compressing your 6.5-foot-long (2 meters) strands of DNA into teensy bundles small enough to fit into individual cells. (
  • This strongly suggests functional reasons for the amino acid sequences of human and ape proteins, and shows their similarities can be explained as being due to functional requirements. (
  • Western blotting showed increased Cox-2, Cyclin E, KLF4 and c-myc proteins and decreased expression of Cathepsin D. In addition, the KLF4 protein was higher in the chemically-induced cell strains compared to the spontaneously-occurring cell strains while COX-2 was higher in the spontaneously-occurring cell strains. (
  • Polymerase allows the DNA strands to unwind from paired chain and the insertion new proteins encoded in the DNA which remains for future mRNA synthesis from the template strand. (
  • Previous reports suggest that electrical forces on cell structure proteins interfered with the chromosome separation during mitosis and induced apoptosis. (
  • the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. (
  • In reality every cell has two sets of chromosomes, so nearly every human cell has 1.5GB of data shoved inside. (
  • The genomic translocation breakpoints of the RMDN2-ALK fusion were mapped to intron 2 for RMDN2 and exon 15 for ALK, and EML4-ALK breakpoints were mapped to intron 13 for EML4 and intron 19 for ALK. (
  • To detect SNVs in paired tumour-control NGS datasets, SNV calling pipelines must compare reads of the tumour dataset against reads of the control dataset that derive from the same genomic location. (
  • We identified and validated an interstitial microdeletion of ∼3.4Mb at chromosome 2q31.1-31.2 by array-based comparative genomic hybridization, fluorescence in situ hybridization, and real-time quantitative polymerase chain reaction that cosegregates with the clinical phenotypes in this family. (
  • In humans, they share three regions of high sequence identity (~98-100%), which-along with the unique transmission patterns of the sex chromosomes-introduce technical artifacts into genomic analyses. (
  • To better characterize the effect that including/excluding the X chromosome may have on variants called, we conducted a pilot study on the Terra cloud platform to replicate a subset of standard genomic practices using both the CHM13 reference genome and sex chromosome complement-aware (SCC-aware) reference genome. (
  • We used Spectral Karyoryping (SKY), mapping with fluorescently labeled genomic clones (FISH), comparative genomic hybridization (CGH), expression array, real time polymerase chain reaction and Western blot to analyze 15 primary adenocarcinoma and 9 pairs of high and low invasive cell cultures to detect molecular changes. (
  • Moderate or intense immunostaining was present in a further 22 samples without c-erbB-2 amplification and was not related to any increased number of c-erbB-2 signals: 15 samples exhibited chromosome 17 polysomy, 3 monosomy and 4 no FISH abnormalities. (
  • Chromosome abnormalities usually result from a problem with cell division and arise because of duplications or absences of entire chromosomes or pieces of chromosomes. (
  • Females have 2 X chromosomes. (
  • In females, it is perfect with two X-chromosomes. (
  • The number of chromosomes in human cells is 46 with 22 autosomal pairs (one of each type contributed by the mother and one of each type from the father) and 2 sex chromosomes - 2 X chromosomes for females (one from father and one from mother) or an X and a Y chromosome for males (the X from the mother and the Y from the father). (
  • The male chromosome is called an X, and the female is a Y. Females have two X chromosomes (XX), while males have one X and one Y chromosome (XY). (
  • Males have one X chromosome, but females have two X chromosomes. (
  • Females need two X chromosomes for normal functioning. (
  • We compared quality of variant calling, expression quantification, and allele-specific expression using these two reference genome versions across 50 human samples from the Genotype-Tissue-Expression consortium annotated as females. (
  • The Y chromosome is present in males, who have one X and one Y chromosome, while females have two X chromosomes. (
  • Genome-wide copy number variants were found in multiple chromosome arms and the short arm of chromosome 2, suggestive of complex rearrangements. (
  • functional nature of telomere-like sequences scattered around the internal regions of human chromosomes. (
  • Distribution of human rhinovirus (HRV) and human enterovirus (HEV) sequences used for primer pair studies. (
  • Genetic information is contained in the DNA of chromosomes in the form of linear sequences of bases (A,T,C,G). The DNA in an individual chromosome is one, long molecule which is highly coiled and condensed.The total number of bases in all the chromosomes of a human cell is approximately six billion and individual chromosomes range from 50 to 250 million bases. (
  • Recently published research papers are now demonstrating how Human cells can rewrite RNA sequences into DNA Chromosomes. (
  • However during cell division, mitosis, the chromosomes become highly condensed and are then visible as dark distinct bodies within the nuclei of cells. (
  • Outcomes and dialogue Cell typeCspecific variety from the mitotic RanGTP and importin- cargo gradients To find out if the RanGTP gradient helps mitosis in every human being somatic cells or can be an version specific to particular forms of cells, we assessed RanGTP gradients inside a -panel of human being cells, including major cells, immortalized regular cells, cancer-derived cells, and tumorigenic cells (Fig. 1 and Desk S1). (
  • Repair of these double-stranded breaks (DSBs) occurs when homologous chromosomes pair up. (
  • The homologous linkage groups on human chromosomes 9p2I, 1p36, 9q and 8q are altered in asbestos -induced human lung adenocarcinoma. (
  • Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15. (
  • 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. (
  • the two copies of chromosome #1 swap DNA with each other and then duplicate, creating two new chromosomes from one original. (
  • While all DNA is stained blue, a specific sequence stained pink appears duplicated in one of the two copies of chromosome 17, but not the other. (
  • Interestingly, most human genomics studies omit more than 5% of the genome from their analyses. (
  • We found that after correction, the whole X chromosome (100%) can generate reliable variant calls-allowing for the inclusion of the whole genome in human genomics analyses as a departure from the status quo of omitting the sex chromosomes from empirical and clinical genomics studies. (
  • Other organisms have a wide variety of numbers of chromosomes. (
  • There exist shared "nonfunctional" pseudogenes between humans and chimps and other organisms. (
  • As a result, three billion pairs of DNA nucleotide sequence data, a human genetic blueprint, was cataloged with an accuracy of 99.99 percent. (
  • Figure 2: Single nucleotide polymorphism (SNP). (
  • We have earlier reported the extent of DNA level diversity and its possible role due to somatic single nucleotide variations in normal human brain 1 . (
  • The chromatin binding of RCC1, the Rabbit Polyclonal to OR5U1 guanine nucleotide exchange element for Ran, as well as the cytoplasmic localization of RanGAP1 travel the rise of the focus gradient of RanGTP encircling the mitotic chromosomes. (
  • The induction of mutations at the hypoxanthine- guanine-phosphoribosyl-transferase (HGPRT) locus, situated on the X- chromosome, rendered the cells resistant to the nucleic acid analogue 6-thioguanine (thioguanine). (
  • Germline loss of function mutations followed by somatic loss of non-mutant alleles in the tumours 2- 4 suggests a tumour suppressor role for mitochondrial complex II in the paraganglia. (
  • Smoking dysregulates the human airway basal cell transcriptome at COPD risk locus 19q13.2. (
  • Five-one with breast cancer, one with basal-cell carcinoma and three with type 2 diabetes-have parental-origin-specific associations. (
  • Chromosomes are structures found in the center (nucleus) of cells that carry long pieces of DNA. (
  • human cancer cells. (
  • There are 46 chromosomes in human body cells, spread out randomly within the nucleus. (
  • Thioguanine resistant P3 cells were activated with human BJ cells and incubated with benzo(e)pyrene (192972) (BeP), pyrene (129000), chrysene (218019), BaP, 3-methylcholanthrene (56495) (MCA), or 7,12- dimethylbenz(a)anthracene (57976) (DMBA) and assayed for the induction of thioguanine resistant mutants. (
  • Our measurement suggests the 46 chromosomes in each of our cells weigh 242 picograms (trillionths of a gram),' study co-author Ian Robinson, a professor of physics at University College, London, said in a statement . (
  • The human body has nearly 1013 cells. (
  • Each cell (except for red blood cells) contains a nucleus that houses these chromosomes. (
  • Chromosomes, composed of protein and DNA, are distinct dense bodies found in the nucleus of cells. (
  • To determine what happens in cells capable of sex chromosome silencing, Mahadevaiah et al. (
  • These cells managed to shut down their sex chromosomes and keep apoptosis levels low. (
  • For example, yeast has 12, watermelon has 20, and salmon has 24 pairs of chromosomes in its cells. (
  • There are 23 pairs of chromosomes in human cells, with one member of each team inherited from your mother and one from your father. (
  • We identified 1305 non-redundant fusion events from 388 transcriptomes representing 59 human cortices and 329 single cells. (
  • 5. In 2001, France and Germany requested the United Nations General Assembly to develop international conventions on human reproductive cloning, therapeutic cloning and research on stem cells. (
  • Duplication of the proximal region of chromosome 4 occurred in 22% of the spontaneously-occurring high-invasive cells strains and 83% of the chemically-induced high-invasive cell culrures. (
  • The expression of cyclooxygenase 2 (COX-2), Kruppellike factor-4 (KLF4), Cyclin E and c-myc was significantly higher in the high-invasive cells strains compared to the low-invasive cell strains. (
  • [2] Because of the genetic defect in DNA repair, cells from people with FA are sensitive to drugs that treat cancer by DNA crosslinking , such as mitomycin C . The typical age of death was 30 years in 2000. (
  • Cells that help the human body reproduce. (
  • Number of chromosomes found in human body cells and sex cells. (
  • Formed in 1994, ACT grew from a small agricultural cloning research facility located in Worcester, Massachusetts, into a multi-locational corporation involved in using both human embryonic stem cells (hESC) and human adult stem cells as well as animal cells for therapeutic innovations. (
  • Normally, each cell in the human body has 23 pairs of chromosomes (46 total chromosomes). (
  • Inside a living cell (plant and animal) is a nucleus which contains chromosomes. (
  • Lined up in order of size, these chromosomes look like this although chromosome 46 changes depending on whether the cell is from a female or a male. (
  • Human Teratoma Cell Culture System For The Presceening Of Environmental Chemicals That May Initiate Or Promote Tumor Formation. (
  • A human teratoma cell culture system that can be used to detect a variety of chemical mutagens was described. (
  • The system used an epithelial cell line, designated P3, which was cloned from a human teratoma cell line. (
  • The authors conclude that the human P3 epithelial cell mutagenesis assay can detect genetic damage induced by physical agents and direct acting and proximate mutagens or carcinogens. (
  • have used HEK293 human embryonic kidney cell line, stimulated with a high EGF concentration and observed that overexpression of PTP1B reduces EGF-dependent ERK activation, by dephosphorylating phospho-tyrosines of the scaffold protein GAB1 . (
  • During most of the cell cycle, interphase, the chromosomes are somewhat less condensed and are not visible as individual objects under the light microscope. (
  • The chromosomes are most easily seen and identified at the metaphase stage of cell division and most of the chromosome images in this gallery are pictures of metaphase chromomosomes. (
  • J Cell Biol (2008) 182 (2): 217. (
  • This means that the number of chromosomes in every cell in the human body is 46. (
  • If a male receives an X chromosome from his mother and another Y chromosome from his father, he will not be able to create another sperm cell with an X chromosome that can produce a female child when fertilized. (
  • If both X chromosomes in a sperm cell from a male have been mutated, then he may not be able to produce offspring. (
  • There are 23 chromosome pairs in the human cell. (
  • In total, there are 46 chromosomes in a human cell. (
  • 1) the ovum contributes one chromosome of each pair to the fertilized cell (2) When a human sperm fertilizes a human ovum , a single cell is created with the potential to grow into a human person. (
  • The medial portion of chromosome 4 was deleted in 67% of all of the cell Strains. (
  • Mouse chromosome 1 and 15 were amplified in 90% of the high-invasive cell strains. (
  • Alternative lengthening of telomeres (ALT) cancers achieve immortality by reelongating their telomeres in the G2 and M phases of the cell cycle through a specialized break-induced replication (BIR) pathway (1, 2). (
  • The 23rd pair in gonadal cell called sex chromosome which is not always a perfect pair. (
  • Rapid degradation of condensin I and condensin II - two essential regulators of mitotic chromosome structure - revealed that both complexes are individually required for cell division in precursor lymphocytes, but not in their differentiated peripheral lymphocyte derivatives. (
  • A cell with one of every kind of chromosome. (
  • Every human being has a pair of sex chromosomes in each cell. (
  • AIMS: An intergenic locus on chromosome 1 (lead SNP rs10911021) was previously associated with coronary heart disease (CHD) in type 2 diabetes (T2D). (
  • Drosophila melanogaster has been a model organism for genetic studies for more than 100 years and continues to be widely used today for developmental biological research in the areas of genetics, physiology, pathogenesis, and evolution [1, 2]. (
  • 2000. American Journal of Human Genetics 67:1174-1185. (
  • A team of researchers at the Max Planck Institute for Molecular Genetics and Charité - Universitätsmedizin Berlin led by human geneticists Malte Spielmann and Stefan Mundlos analyzed clinical samples from patients with genetic developmental disorders with the Hi-C method. (
  • As the team led by human geneticists Stefan Mundlos and Malte Spielmann describe in the current issue of The American Journal of Human Genetics , a method from basic research could improve clinical diagnostics considerably at some point in the future. (
  • Despite of the extraordinary importance that all new knowledge on human genetics will have in dental clinics, little efforts have been made to prepare undergraduates in relation to this new information and technology. (
  • Present address: Medical Research Council (MRC) Human Genetics Unit, Edinburgh EH4 2XU, UK. (
  • Other genetic tests include whole genome sequencing (WGS), which decodes every single base pair, and whole exome sequencing (WES), which only decodes the protein-coding regions. (
  • Each protein is depicted as circle whose color refers to the human pathology where the interaction with PTP1B is found misregulated. (
  • a specific sequence of nucleotides in DNA or RNA that is located usually on a chromosome and that is the functional unit of inheritance controlling the transmission and expression of one or more traits by specifying the structure of a particular polypeptide and especially a protein or controlling the function of other genetic material. (
  • To investigate whether sheep infected with scrapie prions could be another source of infection, we inoculated transgenic mice that overexpressed human prion protein with brain tissue from sheep with natural field cases of classical and atypical scrapie, sheep with experimental BSE, and cattle with BSE. (
  • This protein has the identical amino acid coding (sequence) found in Human DNA-Chromosome 8. (
  • All "Vaccine" Injections contain the spiked protein which has the same sequencing (coding) as Chromosome 8, VMAT2. (
  • Analysis of protein-coding genetic variation in 60,706 humans. (
  • However, only PrimPol, DNA polymerase α, telomerase, and the mitochondrial human DNA polymerase (hpol) γ have been shown to tolerate an entire RNA strand. (
  • nanomonsv is a software for detecting somatic structural variations from paired (tumor and matched control) cancer genome sequence data. (
  • Precise characterization of somatic structural variations and mobile element insertions from paired long-read sequencing data with nanomonsv, Shiraishi et al. (
  • The analysis provided evidence for linkage of type 2 diabetes to six regions, with the strongest evidence on chromosome 17p11.2-q22 (P=0.0016), followed by 2p22.1-p13.2 (P=0.027), 1p13.1-q22 (P=0.028), 12q21.1-q24.12 (P=0.029), 6q21-q24.1 (P=0.033) and 16p12.3-q11.2 (P=0.033). (
  • We performed a genome scan at an average resolution of 8 cM in 719 Finnish sib pairs with type 2 diabetes. (
  • Furthermore, we observed a novel association between the SNP rs2334499 at 11p15 and type 2 diabetes. (
  • The remaining 23rd pair, called the sex chromosome, determines whether you're a male or female. (
  • Unlike non- ionizing radiation (such as microwaves and ultraviolet radiation), which has insufficient energy to eject molecular electrons, ionizing radiation deposits sufficient energy to remove electrons from atomic orbits and create molecular ion pairs along particle tracks. (
  • Fusion transcripts can contribute to diversity of molecular networks in the human cortex. (
  • Our findings demonstrate fusion transcripts are naturally occurring phenomenon spanning across the health-disease continuum, and likely contribute to the diverse molecular network of human brain. (
  • Molecular human reproduction 2005 Sep 11 (9): 673-5. (
  • The U.S. government-run Human Genome Project revealed, among other things, the mass of DNA molecules - however, the weight of the chromosomes that house these molecules remained a mystery. (
  • Introduction: The Human Genome Project (HGP) has allowed for advances in diagnosis and prevention of diseases. (
  • The Human Genome Project (HGP) started in the United States of America aiming at sequencing and mapping the human genetic code. (
  • Portrayed as the Manhattan Project of the late 20th century, the Human Genome Project, or HGP, not only undertook the science of sequencing the human genome but also the ethics of it. (
  • The higher COX-2 in the spontaneous tumors indicates the importance of inflammation in spontaneous tumor induction. (
  • To check this hypothesis, we evaluated the appearance of aswell as miR-146a-5p and miR-146b-5p in 48 PTC tumor/regular tissues pairs by Taqman assay to reveal which the appearance of was 3.28-fold reduced, and miR-146b-5p was 28.9-fold improved in PTC tumors. (
  • The primary endpoint of the trial is to assess the rate of 2-fold antibody titre increase 14 days after vaccination measured by quantitative enzyme-linked immunosorbent assay (Anti-RBD-ELISA) against wild-type virus. (
  • Human pheromones: integrating neuroendocrinology and ethology JV Kohl, M Atzmueller, B Fink… - Neuroendocrinology Letters, 2001 - The effect of sensory input on hormones is essential to any explanation of mammalian behavior, including aspects of physical attraction. (
  • Over the past 30 years, a community of scientists have pieced together every base pair of the human reference genome from telomere-to-telomere. (
  • So youre only slowing down the degradation but hyperbaric chamber is so powerful that youll actually increase telomere length proteomicsguru 2 yr. ago . (
  • PDF file related to telomere lengthening in humans, and natural product telomerase activators, written by Phillip A Micans, MS, PharmB 44-208-123-2106 Menu . (
  • Researchers, journalists, and inquiring minds want to know more about telomeres, which seem to hold clues to human aging and age-related diseases. (
  • Telomeres are a protective nucleoprotein structure at each chromosome end. (
  • About 2% of FA cases are X-linked recessive, which means that if the mother carries one mutated Fanconi anemia allele on one X chromosome , a 50% chance exists that male offspring will present with Fanconi anemia. (
  • We found that no primer pair detected the same HRVs and HEVs typed when the original pair ( 5 ) or pair 1 ( Table A1 ) was used. (
  • The team found that the majority of the spermatocytes didn't shutter the X and Y chromosomes. (
  • Geneticist Richard Buggs evaluated Venema's arguments and found that they don't necessarily rule out the possibility that humanity arose from a single pair. (
  • One of these complex communities is that found in the human oral dental plaque (hereinafter, human oral biofilm). (
  • In fact, all studies investigating the processing of natural complex human chemosignals found neuronal networks involved , which are specialized for the processing of social rather than olfactory information. (
  • here is an interesting link that attempts to explain how our ape ancestors have 24 pairs of chromosomes and we humans only have 23 pairs - our chromosome #2 is made from two ape chromosomes which fused (via translocation) together. (
  • The characteristic banding of chromosomes you will see in pictures here is obtained by staining with various dyes. (
  • The banding of chromosomes by using dyes was discovered in the late 1960's and before that cytogeneticists depended on chromosome length and position of a constriction to identify the individual chromosomes. (
  • Chromosomes stained with fluorescence dyes under the microscope. (
  • Some researchers postulate a so-called pachytene checkpoint that triggers apoptosis of spermatocytes during meiosis if chromosomes fail to pair up (known as asynapsis) and too many unfixed DSBs remain. (
  • We investigated c-erbB-2 oncogene amplification and over-expression in 79 invasive breast carcinoma samples using fluorescence in situ hybridization (FISH) and immunohistochemistry, with the aim of studying relationships between neoplasms over-expressing c-erbB-2 with or without amplification and bio-pathological parameters used in clinical breast cancer. (
  • Current popular somatic SNV calling pipelines organise the input data by mapping tumour and control reads to a human reference genome prior to SNV detection. (
  • FISH mapping further narrowed the region of deletion of chromosome 4 to 39.6 centimorgans (cM) and the region of duplication to 10-35 cM. (
  • For example, nitrous acid (HNO 2 ) and its relatives can turn cytosine in DNA into uracil by deamination: they convert an amino group on cytosine (-NH 2 ) into a keto group. (
  • Our strongest results are for chromosome 20, where we observe a weighted maximum LOD score (MLS) of 2.15 at map position 69.5 cM from pter and secondary weighted LOD-score peaks of 2.04 at 56.5 cM and 1.99 at 17.5 cM. (
  • The commercial introduction of recombinant human growth hormone (rhGH) in 1985 dramatically changed the field of therapy for growth hormone (GH). (
  • Comment on Long-term effects of bariatric surgery on patients with obesity and chromosome 19.11-2 microdeletion. (
  • Independent susceptibility markers for atrial fibrillation on chromosome 4q25. (
  • 2002, 2006) using the donorCacceptor pairs changed by mTFP-1 (Ai et al. (
  • The scent of eros: Mysteries of odor in human sexuality JV Kohl… - 2002 - Page 1. (
  • studied mouse spermatocytes that harbor a copy of the human 21st chromosome in addition to their normal chromosome complement. (
  • Samples having c-erbB-2 over-expression associated with amplification showed DNA aneuploidy and hormonal receptor loss to a greater extent than those expressing c-erbB-2 without amplification or immunonegative samples (χ 2 test, p = 0.007, 0.008 and 0.008, respectively). (
  • Our results indicate that tumours showing both c-erbB-2 over-expression and amplification exhibit more aggressive biological characteristics than those with only over-expression or immunonegative tumours. (
  • Since both c-erbB-2 amplification and over-expression have been related to negative responses to chemotherapy and poor prognosis, these differences might have clinical implications. (
  • DNA isolation, genotyping of simple tandem repeat polymorphisms, PCR amplification and sequencing were performed using standard techniques 2 and all simple tandem repeat polymorphisms were amplified in the presence of 10% glycerol and 5% DMSO after labelling one oligonucleotide primer with 32 P and analysed on a 6% polyacrylamide gel. (
  • Amplification of mouse chromosome 4 in chemically induced and invasive mouse lung adenocarcinoma. (
  • Here we report the complete sequence of chromosome 5. (
  • The sequence of chromosomes 2 and 4 have been reported previously and that of chromosomes 1 and 3, together with an analysis of the complete genome sequence, are reported in this issue. (
  • Analysis of the sequence of chromosome 5 yields further insights into centromere structure and the sequence determinants of heterochromatin condensation. (
  • Tabata, S & Klein Lankhorst, RM 2000, ' Sequence and analysis of chromosome 5 of the plant Arabidopsis thaliana ', Nature , vol. 408, no. 6814, pp. 823-826. (
  • Although many associations between sequence variants and human traits have been discovered through genome-wide associations, the impact of parental origin has largely been ignored. (
  • Deploying the Whole Genome Sequence In Medicine and Public Health, One Base Pair At A Time. (
  • Whole genome sequence data of 2 belted and 130 control cattle yielded only one private genetic variant in the critical interval in the two belted animals. (
  • There is a 1/2 = 50% chance for the offspring being heterozygous like the parents (Aa). (
  • 2. How do we assemble hyper repetitive and heterozygous regions? (
  • It is hard to tell which alleles belong to which set of chromosomes in heterozygous regions. (
  • The present modified Part B of this trial foresees testing of mRNA-1273 (Spikevax®) vs. BNT162b2 (Comirnaty®) as 4th vaccination dose (2nd booster) for comparative assessment of their immunogenicity and safety against SARS-CoV-2 wild-type and variants. (
  • The majority of human DNA polymerases have been reported to misinsert ribonucleotides into genomes. (
  • Using one of the U.K.'s most powerful X-ray beams, a team of researchers recently measured the mass of the 46 human chromosomes. (
  • The results were surprising: Each chromosome was about 20 times heavier than the DNA contained inside them - a much greater mass than the researchers anticipated, according to their study published March 31 in the journal Chromosome Research . (
  • Understanding this could lead to further insights about the complex structure of chromosomes, which are studied extensively by medical labs for things like cancer diagnoses, according to the researchers. (
  • With this model, the researchers could calculate the precise number of electrons in each chromosome, allowing the researchers to estimate the chromosomes' total mass. (
  • Overall, the researchers say, the results point to a breakdown of sex chromosome silencing as the main cause of death for meiotic spermatocytes. (
  • It also suggests problems in the newborn, since the pairing of the chromosomes are from the same genetic source. (
  • Two peer-reviewed papers and a book chapter have already been published in the ID-community related to modeling these questions, and early evidence suggests that an initial pair is capable of explaining human genetic diversity. (
  • A pair of stained chromosomes under the microscope. (
  • Thirty-eight samples were immunonegative: 18 exhibited chromosome 17 polysomy, 9 monosomy and 11 no alterations. (
  • The inheritance of skin colour in humans is an example of which of the following? (