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.

UCP4, a novel brain-specific mitochondrial protein that reduces membrane potential in mammalian cells. (1/1138)

Uncoupling proteins (UCPs) are a family of mitochondrial transporter proteins that have been implicated in thermoregulatory heat production and maintenance of the basal metabolic rate. We have identified and partially characterized a novel member of the human uncoupling protein family, termed uncoupling protein-4 (UCP4). Protein sequence analyses showed that UCP4 is most related to UCP3 and possesses features characteristic of mitochondrial transporter proteins. Unlike other known UCPs, UCP4 transcripts are exclusively expressed in both fetal and adult brain tissues. UCP4 maps to human chromosome 6p11.2-q12. Consistent with its potential role as an uncoupling protein, UCP4 is localized to the mitochondria and its ectopic expression in mammalian cells reduces mitochondrial membrane potential. These findings suggest that UCP4 may be involved in thermoregulatory heat production and metabolism in the brain.  (+info)

NKp44, a triggering receptor involved in tumor cell lysis by activated human natural killer cells, is a novel member of the immunoglobulin superfamily. (2/1138)

Surface receptors involved in natural killer (NK) cell triggering during the process of tumor cell lysis have recently been identified. Of these receptors, NKp44 is selectively expressed by IL-2- activated NK cells and may contribute to the increased efficiency of activated NK cells to mediate tumor cell lysis. Here we describe the molecular cloning of NKp44. Analysis of the cloned cDNA indicated that NKp44 is a novel transmembrane glycoprotein belonging to the Immunoglobulin superfamily characterized by a single extracellular V-type domain. The charged amino acid lysine in the transmembrane region may be involved in the association of NKp44 with the signal transducing molecule killer activating receptor-associated polypeptide (KARAP)/DAP12. These molecules were found to be crucial for the surface expression of NKp44. In agreement with data of NKp44 surface expression, the NKp44 transcripts were strictly confined to activated NK cells and to a minor subset of TCR-gamma/delta+ T lymphocytes. Unlike genes coding for other receptors involved in NK cell triggering or inhibition, the NKp44 gene is on human chromosome 6.  (+info)

The predisposition to type 1 diabetes linked to the human leukocyte antigen complex includes at least one non-class II gene. (3/1138)

The human leukocyte antigen (HLA) complex, encompassing 3.5 Mb of DNA from the centromeric HLA-DPB2 locus to the telomeric HLA-F locus on chromosome 6p21, encodes a major part of the genetic predisposition to develop type 1 diabetes, designated "IDDM1." A primary role for allelic variation of the class II HLA-DRB1, HLA-DQA1, and HLA-DQB1 loci has been established. However, studies of animals and humans have indicated that other, unmapped, major histocompatibility complex (MHC)-linked genes are participating in IDDM1. The strong linkage disequilibrium between genes in this complex makes mapping a difficult task. In the present paper, we report on the approach we have devised to circumvent the confounding effects of disequilibrium between class II alleles and alleles at other MHC loci. We have scanned 12 Mb of the MHC and flanking chromosome regions with microsatellite polymorphisms and analyzed the transmission of these marker alleles to diabetic probands from parents who were homozygous for the alleles of the HLA-DRB1, HLA-DQA1, and HLA-DQB1 genes. Our analysis, using three independent family sets, suggests the presence of an additional type I diabetes gene (or genes). This approach is useful for the analysis of other loci linked to common diseases, to verify if a candidate polymorphism can explain all of the association of a region or if the association is due to two or more loci in linkage disequilibrium with each other.  (+info)

Murine p38-delta mitogen-activated protein kinase, a developmentally regulated protein kinase that is activated by stress and proinflammatory cytokines. (4/1138)

The p38 mitogen-activated protein kinases (MAPK) play a crucial role in stress and inflammatory responses and are also involved in activation of the human immunodeficiency virus gene expression. We have isolated the murine cDNA clones encoding p38-delta MAPK, and we have localized the p38-delta gene to mouse chromosome 17A3-B and human chromosome 6p21.3. By using Northern and in situ hybridization, we have examined the expression of p38-delta in the mouse adult tissues and embryos. p38-delta was expressed primarily in the lung, testis, kidney, and gut epithelium in the adult tissues. Although p38-delta was expressed predominantly in the developing gut and the septum transversum in the mouse embryo at 9.5 days, its expression began to be expanded to many specific tissues in the 12.5-day embryo. At 15.5 days, p38-delta was expressed virtually in most developing epithelia in embryos, suggesting that p38-delta is a developmentally regulated MAPK. Interestingly, p38-delta and p38-alpha were similar serine/threonine kinases but differed in substrate specificity. Overall, p38-delta resembles p38-gamma, whereas p38-beta resembles p38-alpha. Moreover, p38-delta is activated by environmental stress, extracellular stimulants, and MAPK kinase-3, -4, -6, and -7, suggesting that p38-delta is a unique stress-responsive protein kinase.  (+info)

A genome search identifies major quantitative trait loci on human chromosomes 3 and 4 that influence cholesterol concentrations in small LDL particles. (5/1138)

Small, dense LDL particles are associated with increased risk of cardiovascular disease. To identify the genes that influence LDL size variation, we performed a genome-wide screen for cholesterol concentrations in 4 LDL size fractions. Samples from 470 members of randomly ascertained families were typed for 331 microsatellite markers spaced at approximately 15 cM intervals. Plasma LDLs were resolved by using nondenaturing gradient gel electrophoresis into 4 fraction sizes (LDL-1, 26.4 to 29.0 nm; LDL-2, 25.5 to 26.4 nm; LDL-3, 24.2 to 25.5 nm; and LDL-4, 21.0 to 24.2 nm) and cholesterol concentrations were estimated by staining with Sudan Black B. Linkage analyses used variance component methods that exploited all of the genotypic and phenotypic information in the large extended pedigrees. In multipoint linkage analyses with quantitative trait loci for the 4 fraction sizes, only LDL-3, a fraction containing small LDL particles, gave peak multipoint log10 odds in favor of linkage (LOD) scores that exceeded 3.0, a nominal criterion for evidence of significant linkage. The highest LOD scores for LDL-3 were found on chromosomes 3 (LOD=4.1), 4 (LOD=4.1), and 6 (LOD=2.9). In oligogenic analyses, the 2-locus LOD score (for chromosomes 3 and 4) increased significantly (P=0.0012) to 6.1, but including the third locus on chromosome 6 did not significantly improve the LOD score (P=0.064). Thus, we have localized 2 major quantitative trait loci that influence variation in cholesterol concentrations of small LDL particles. The 2 quantitative trait loci on chromosomes 3 and 4 are located in regions that contain the genes for apoD and the large subunit of the microsomal triglyceride transfer protein, respectively.  (+info)

Linkage of Crohn's disease to the major histocompatibility complex region is detected by multiple non-parametric analyses. (6/1138)

BACKGROUND: There is evidence for genetic susceptibility to Crohn's disease, and a tentative association with tumour necrosis factor (TNF) and HLA class II alleles. AIMS: To examine the potential of genetic linkage between Crohn's disease and the MHC region on chromosome 6p. METHODS: TNF microsatellite markers and, for some families, additional HLA antigens were typed for 323 individuals from 49 Crohn's disease multiplex families to generate informative haplotypes. Non-parametric linkage analysis methods, including sib pair and affected relative pair methods, were used. RESULTS: Increased sharing of haplotypes was observed in affected sib pairs: 92% (48/52) shared one or two haplotypes versus an expected 75% if linkage did not exist (p=0.004). After other affected relative pairs were included, the significance level reached 0.001. The mean proportion of haplotype sharing was increased for both concordant affected (pi=0.60, p=0.002) and unaffected sib pairs (pi=0.58, p=0. 031) compared with the expected value (pi=0.5). In contrast, sharing in discordant sib pairs was significantly decreased (pi=0.42, p=0. 007). Linear regression analysis using all three types of sib pairs yielded a slope of -0.38 at p=0.00003. It seemed that the HLA effect was stronger in non-Jewish families than in Jewish families. CONCLUSIONS: All available analytical methods support linkage of Crohn's disease to the MHC region in these Crohn's disease families. This region is estimated to contribute approximately 10-33% of the total genetic risk to Crohn's disease.  (+info)

Genetic linkage of IgA deficiency to the major histocompatibility complex: evidence for allele segregation distortion, parent-of-origin penetrance differences, and the role of anti-IgA antibodies in disease predisposition. (7/1138)

Immunoglobulin A (IgA) deficiency (IgAD) is characterized by a defect of terminal lymphocyte differentiation, leading to a lack of IgA in serum and mucosal secretions. Familial clustering, variable population prevalence in different ethnic groups, and a predominant inheritance pattern suggest a strong genetic predisposition to IgAD. The genetic susceptibility to IgAD is shared with a less prevalent, but more profound, defect called "common variable immunodeficiency" (CVID). Here we show an increased allele sharing at 6p21 in affected members of 83 multiplex IgAD/CVID pedigrees and demonstrate, using transmission/diseqilibrium tests, family-based associations indicating the presence of a predisposing locus, designated "IGAD1," in the proximal part of the major histocompatibility complex (MHC). The recurrence risk of IgAD was found to depend on the sex of parents transmitting the defect: affected mothers were more likely to produce offspring with IgAD than were affected fathers. Carrier mothers but not carrier fathers transmitted IGAD1 alleles more frequently to the affected offspring than would be expected under random segregation. The differential parent-of-origin penetrance is proposed to reflect a maternal effect mediated by the production of anti-IgA antibodies tentatively linked to IGAD1. This is supported by higher frequency of anti-IgA-positive females transmitting the disorder to children, in comparison with female IgAD nontransmitters, and by linkage data in the former group. Such pathogenic mechanisms may be shared by other MHC-linked complex traits associated with the production of specific autoantibodies, parental effects, and a particular MHC haplotype.  (+info)

Suppression of tumorigenicity in human ovarian cancer cell lines is controlled by a 2 cM fragment in chromosomal region 6q24-q25. (8/1138)

Multiple distinct regions of chromosome 6 are frequently affected by losses of heterozygosity in primary human ovarian carcinomas. We introduced a normal human chromosome 6 into HEY and SKOV-3 ovarian carcinoma cell lines using microcell-mediated chromosome transfer techniques to further investigate the role of this chromosome in ovarian tumorigenesis. The exogenous chromosome was stably propagated in the recipient cells based on fluorescence in situ hybridization (FISH) analyses with a chromosome 6 painting probe. The tumorigenicity of HEY and SKOV-3 cells was completely suppressed after transfer of chromosome 6, but not after transfer of a chromosome 11q13-qter fragment used as control. Using 46 polymorphic microsatellite markers, the region bounded by D6S1649 and D6S1564 was found to be commonly deleted in HEY: chromosome 6 tumorigenic revertant clones. The boundaries of the commonly deleted region could be further narrowed down to a 2 cM (based on the Whitehead genetic map) or 0.36 megabase (based on gdb mapping data) region between D6S1637 and D6S1564 after transferring the exogenous chromosome from revertants into mouse L cells and performing allelic deletion mapping studies against this mouse background. We conclude that this region contains a tumor suppressor gene important for the control of ovarian tumor development.  (+info)

Looking for online definition of Cytovillin or what Cytovillin stands for? Cytovillin is listed in the Worlds largest and most authoritative dictionary database of abbreviations and acronyms
THE SYNDROME of transient diabetes mellitus in the newborn has been well documented by Cornblath and Schwartz1 who collected and summarized 15 case reports. Asi
THE SYNDROME of transient diabetes mellitus in the newborn has been well documented by Cornblath and Schwartz1 who collected and summarized 15 case reports. Asi
Epithelial ovarian cancer (EOC) has a heritable component that remains to be fully characterized. Most identified common susceptibility variants lie in non-protein-coding sequences. We hypothesized that variants in the 3 untranslated region at putative microRNA (miRNA)-binding sites represent funct …
Chromosome 5p15.33 has been identified as a lung cancer susceptibility locus, however the underlying causal mechanisms were not fully elucidated. Previous fine-mapping studies of this locus have relied on imputation or investigated a small number of known, common variants. This study represents a significant advance over previous research by investigating a large number of novel, rare variants, as well as their underlying mechanisms through telomere length. Variants for this fine-mapping study were identified through a targeted deep sequencing (average depth of coverage greater than 4000x) of 576 individuals. Subsequently, 4652 SNPs, including 1108 novel SNPs, were genotyped in 5164 cases and 5716 controls of European ancestry. After adjusting for known risk loci, rs2736100 and rs401681, we identified a new, independent lung cancer susceptibility variant in LPCAT1: rs139852726 (OR = 0.46, P = 4.73x10(-9)), and three new adenocarcinoma risk variants in TERT: rs61748181 (OR = 0.53, P = ...
Chromosome 5p15.33 has been identified as a lung cancer susceptibility locus, however the underlying causal mechanisms were not fully elucidated. Previous fine-mapping studies of this locus have relied on imputation or investigated a small number of known, common variants. This study represents a significant advance over previous research by investigating a large number of novel, rare variants, as well as their underlying mechanisms through telomere length. Variants for this fine-mapping study were identified through a targeted deep sequencing (average depth of coverage greater than 4000×) of 576 individuals. Subsequently, 4652 SNPs, including 1108 novel SNPs, were genotyped in 5164 cases and 5716 controls of European ancestry. After adjusting for known risk loci, rs2736100 and rs401681, we identified a new, independent lung cancer susceptibility variant in LPCAT1: rs139852726 (OR = 0.46, P = 4.73×10(-9)), and three new adenocarcinoma risk variants in TERT: rs61748181 (OR = 0.53, P = 2.64×10(-6)),
Fine-mapping of chromosome 5p15.33 based on a targeted deep sequencing and high density genotyping identifies novel lung cancer susceptibility loci ...
Type 1 diabetes is a complex heterogeneous disease for which there is a small number of genes with large effects (i.e., HLA) and a large number of genes with small effects (11). There are probably many genetic forms of type 1 diabetes, and most forms are influenced by genes within the HLA region on chromosome 6p21 (IDDM1). Certain combinations of HLA alleles are found to be associated with each other on the same chromosome with a frequency greater than expected, and, consequently, they are not randomly distributed within the general population. This phenomenon is known as linkage disequilibrium, and it is quantified by the difference between the observed and the expected frequencies of certain combinations of alleles. It is the combination of these alleles on single chromosomes (haplotypes) and combinations of both chromosomes (one from each parent: genotype) that predominantly determines diabetes risk.. The principal genes localized within the MHC code for human leukocyte antigens, or HLA, two ...
Two human chromosomal regions, the HLA region on chromosome 6p21 and the insulin gene region on chromosome 11p15, have been investigated in detail for more than 10 years for the presence of IDDM susceptibility genes. Recent genome searches indicate the possible existence of many additional susceptibility genes in IDDM. The lengthy and protracted studies to prove the linkage and identity of the susceptibility genes in the HLA and insulin gene regions provide a perspective and background for understanding the complexities and time course for characterization of the putative additional IDDM susceptibility genes uncovered by genome searches.. ...
6q24-related transient neonatal diabetes mellitus, a type of diabetes that occurs in infants, is caused by the overactivity (overexpression) of certain genes in a region of the long (q) arm of chromosome 6 called 6q24. People inherit two copies of their genes, one from their mother and one from their father. Usually both copies of each gene are active, or turned on, in cells. In some cases, however, only one of the two copies is normally turned on. Which copy is active depends on the parent of origin: some genes are normally active only when they are inherited from a persons father; others are active only when inherited from a persons mother. This phenomenon is known as genomic imprinting.. The 6q24 region includes paternally expressed imprinted genes, which means that normally only the copy of each gene that comes from the father is active. The copy of each gene that comes from the mother is inactivated (silenced) by a mechanism called methylation.. There are three ways that overexpression ...
From NCBI Gene:. This gene, which encodes a non-protein coding transcript, exhibits differential DNA methylation between the two parental alleles at an adjacent CpG island, and is expressed only from the paternal allele. It is believed to be one of the causative genes for transient neonatal diabetes mellitus (TNDM), which is a rare disease characterized by intrauterine growth retardation, dehydration, and failure to thrive due to a lack of normal insulin secretion. [provided by RefSeq, Oct 2010]. ...
Background: Neonatal diabetes (ND) is a rare condition (1:160.000-260.000 live births) associated with diabetes onset within the first 6 months of life. It can be permanent (PNDM) or transient (TNDM), and several genes can be implicated in both, namely KCNJ11. Clinical phenotypes usually correlate to the causal gene. KCNJ11 mutations are usually associated with PNDM whilst the most frequent cause of TNDM is disordered imprinting in the 6q24 locus.. Objective and hypotheses: To report a case with uncommon features.. Method: Case report.. Results: A male infant (DOB:04.04.2013), second child of a consanguineous couple, was born at the term of an uneventful pregnancy by vaginal delivery, adequate for gestational age, with Apgar 5/9/10. Minor dismorphies, hypotony and feeding difficulties were noticed. He was readmitted on the 11th day of life because of failure to thrive and clinical deterioration; 6 days later, severe diabetic ketoacidosis was diagnosed (pH 7.0, glucose 1421 mg/dl, Na+172 mmol/l). ...
Shihong Du, Qimin Qin, Qiao Wang, Haijian Ma: Evaluating structural and topological consistency of complex regions with broad boundaries in multi-resolution spatial databases. Inf. Sci. 178(1): 52-68 (2008 ...
The following table shows the number of genes in each 1 Mb interval along the chromosome. For this calculation, the midpoint location of each gene was taken ...
The following table shows the number of genes in each 1 Mb interval along the chromosome. For this calculation, the midpoint location of each gene was taken ...
IREB2 is a gene that produces iron regulatory protein 2 (IRP2), which is critical to intracellular iron homeostasis and which relates to the rate of cellular proliferation. IREB2 lies in a lung cancer susceptibility locus. The aims were to assess 1) the relationship between iron loading, cell proliferation and IRP2 expression in lung cancer; 2) the potential of iron related pathways as therapeutic targets; and 3) the relevance of IRP2 in operated lung cancer patients.. Cells of two nonsmall cell cancer (NSCLC) lines and primary bronchial epithelial cells (PBECs) were cultured with and without iron; and proliferation, apoptosis and migration were assessed. Reverse transcriptase PCR and Western blot were used to assess expression of iron homeostasis genes/proteins. Iron chelation and knockdown of IREB2 were used in vitro to explore therapeutics. A cohort of operated NSCLC patients was studied for markers of systemic iron status, tumour IRP2 staining and survival.. Iron loading caused cell ...
SOTO GARCIA, Mavys et al. Presentation of three cases with North Carolina macular dystrophy. Rev Cubana Oftalmol [online]. 2012, vol.25, n.1, pp.155-160. ISSN 0864-2176.. The ophthalmological characteristics of three patients, two male siblings and their father, with diagnosis of North Carolina macular dystrophy were presented. This is a genetic dysfunction that causes congenital or early onset macular degeneration. It is characterized by a dominant autosomal heredity, with complete penetrance, genetically mapped in the chromosome 6q16. The lesions are mainly stationary. The funduscopic manifestations vary. The type of lesion is mainly stationary whereas funduscopic manifestations are varied. The dysciform lesion in the macular area and decrease of the macular thicness according to the macular coloboma prevailed, with identical particularities in the three patients. The visual acuity varied from 0.6 to 0.2.. Palabras clave : Macular dystrophy; North Carolina; dominant autosomial; chromosome; ...
TY - JOUR. T1 - Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin. AU - Tin, Adrienne. AU - Astor, Brad C.. AU - Boerwinkle, Eric. AU - Hoogeveen, Ron C.. AU - Coresh, Josef. AU - Kao, Wen Hong Linda. PY - 2013/6. Y1 - 2013/6. N2 - Beta-2 microglobulin (B2M) is a component of the major histocompatibility complex (MHC) class I molecule and has been studied as a biomarker of kidney function, cardiovascular diseases and mortality. Little is known about the genes influencing its levels directly or through glomerular filtration rate (GFR). We conducted a genome-wide association study of plasma B2M levels in 6738 European Americans from the Atherosclerosis Risk in Communities study to identify novel loci for B2M and assessed its association with known estimated GFR (eGFR) loci. We identified 2 genome-wide significant loci. One was in the human leukocyte antigen (HLA) region on chromosome 6 (lowest p value = 1.8 × 10 -23 for ...
Fanconi-Bickel syndrome, caused by mutations in SLC2A2 encoding the glucose transporter 2 (GLUT2), is characterized by generalized proximal renal tubular dysfunction manifesting in late infancy. We describe phenotypic heterogeneity of Fanconi-Bickel syndrome in three siblings, including early and atypical presentation with transient neonatal diabetes mellitus in one. The second-born of a non-consanguineous couple, evaluated for polyuria and growth retardation, had rickets, hepatomegaly and proximal tubular dysfunction from 4 to 6 months of age. A male sibling, who expired at 4 months, also had hepatomegaly and growth retardation. The third sibling had polyuria, glucosuria and mild proteinuria on day 3 of life. Hyperglycemia was detected 2 weeks later, which required therapy with insulin for 3 months. Mild metabolic acidosis was present at 2 weeks; hypercalciuria, phosphaturia and aminoaciduria were seen at 6 months. Sanger sequencing showed a homozygous missense mutation in SLC2A2 (exon 7, ...
After the recent discovery that common genetic variation in 15q24-25.1 influences inherited risk of lung cancer (3-7), we identified a second sequence variant at 15q24-25.1 associated with familial lung cancer (8) and further validated this new association in large sporadic lung cancer populations. We showed that these two genetic variants on 15q24-25.1 have independent genetic effects on lung cancer risk. The second variant on 15q24-25.1, marked by rs481134, explains an additional 13.2% of the population attributable risk for lung cancer. These results further confirm the complexity of the chromosomal region 15q24-25.1 underlying lung cancer susceptibility.. Interestingly, the second variant did not show association with lung cancer in single-marker analysis. However, haplotype analysis of SNPs rs1051730 and rs481134 provided stronger evidence for association with lung cancer. SNPs rs1051730 and rs481134 are in moderate LD (r2 = 0.30), which can mask or change the genetic effects of those loci ...
Complete information for MCDR3 gene (Genetic Locus), Macular Dystrophy, Retinal 3, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
Results An association between SNP rs3802842 on chromosome 11q23.1 and rs16892766 on chromosome 8q23.3 and the risk of developing CRC and age of diagnosis was found in MLH1 mutation carriers. Female MLH1 mutation carriers harbouring the homozygous variant genotype for SNP rs3802842 have the highest risk of developing CRC. When the number of risk alleles for the two SNPs combined was analysed, a difference of 24 years was detected between individuals carrying three risk alleles and those carrying no risk alleles. ...
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Food Sources Most infant formulas usually contain vegetable oils that provide about 10в15 major fatty acids (43). A3. ПппппDisease basal laminar drusen Doyne honeycomb retinal dystrophy (malattia leventinese) Sorsby fundus dystrophy central areolar choroidal dystrophy AMD-like late-onset maculopathy North Carolina macular dystrophy OMIM Mode of phenotype inheritance number 126700 AR Associated gene CFH EFEMP1 (fibulin-3) TIMP3 peripherinRDS peripherinRDS unknown (MCDR1 locus) Reference(s) this thesis 182 183 this thesis 143 184 пппп126600 136900 215500 - 136550 Kamagra kaufen in der apotheke AD AD AD AD пппппппппAD, autosomal dominant; AMD.
Hi My seconddaughter was born 7 weeks early on the 19/8 after my waters broke at 26 weeks. She did amazingly to hang on that long and we knew she wasa fighter. She was born by c-section and when she came out she meowed like a cat... and I knew there was something wrong, all the…
TY - JOUR. T1 - A strabismus susceptibility locus on chromosome 7p. AU - Parikh, Vaishali. AU - Shugart, Yin Yao. AU - Doheny, Kimberly F.. AU - Zhang, Jie. AU - Li, Lan. AU - Williams, John. AU - Hayden, David. AU - Craig, Brian. AU - Capo, Hilda. AU - Chamblee, Denise. AU - Chen, Cathy. AU - Collins, Mary. AU - Dankner, Stuart. AU - Fiergang, Dean. AU - Guyton, David. AU - Hunter, David. AU - Hutcheon, Marcia. AU - Keys, Marshall. AU - Morrison, Nancy. AU - Munoz, Michelle. AU - Parks, Marshall. AU - Plotsky, David. AU - Protzko, Eugene. AU - Repka, Michael X.. AU - Sarubbi, Maria. AU - Schnall, Bruce. AU - Siatkowski, R. Michael. AU - Traboulsi, Elias. AU - Waeltermann, Joanne. AU - Nathans, Jeremy. N1 - Copyright: Copyright 2008 Elsevier B.V., All rights reserved.. PY - 2003/10/14. Y1 - 2003/10/14. N2 - Strabismus has been known to have a significant genetic component, but the mode of inheritance and the identity of the relevant genes have been enigmatic. This paper reports linkage analysis ...
To identify new susceptibility loci for psoriasis, we undertook a genome-wide association study of 594,224 SNPs in 2,622 individuals with psoriasis and 5,667 controls. We identified associations at eight previously unreported genomic loci. Seven loci harbored genes with recognized immune functions ( …
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Free, official coding info for 2018 ICD-10-CM P70.2 - includes detailed rules, notes, synonyms, ICD-9-CM conversion, index and annotation crosswalks, DRG grouping and more.
Buy Anti-FOXI1, ID (FOXI1, FKHL10, FREAC6, Forkhead box protein I1, Forkhead-related protein FKHL10, For, item number: 035735-HRP.200 from United States Biological at Biomol!
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OBJECTIVE: To test a high density of microsatellite markers from within a primary osteoarthritis (OA) locus on chromosome 6 for association with OA as a means of narrowing and focusing our search for the susceptibility gene. METHODS: One hundred forty-six families, each with 2 or more women concordant for primary OA (ascertained by total hip replacement), were genotyped for 36 microsatellite markers from within a narrow interval at 6p12.3-q13 which we had previously shown to be linked to OA. Each marker was tested for linkage and for association, the latter by means of the transmission disequilibrium test and by a case-control analysis. RESULTS: The highest 2-point logarithm of odds (LOD) score was 4.8, with 11 markers having LOD scores | or =2.0. Several markers demonstrated evidence of association, in particular, a cluster of markers positioned within or near the functional candidate gene BMP5. CONCLUSION: Our linkage data reinforce the evidence of a major susceptibility locus on chromosome 6. We had
TY - JOUR. T1 - Identification of a new prostate cancer susceptibility locus on chromosome 8q24. AU - Yeager, Meredith. AU - Chatterjee, Nilanjan. AU - Ciampa, Julia. AU - Jacobs, Kevin B.. AU - Gonzalez-Bosquet, Jesus. AU - Hayes, Richard B.. AU - Kraft, Peter. AU - Wacholder, Sholom. AU - Orr, Nick. AU - Berndt, Sonja. AU - Yu, Kai. AU - Hutchinson, Amy. AU - Wang, Zhaoming. AU - Amundadottir, Laufey. AU - Feigelson, Heather Spencer. AU - Thun, Michael J.. AU - Diver, W. Ryan. AU - Albanes, Demetrius. AU - Virtamo, Jarmo. AU - Weinstein, Stephanie. AU - Schumacher, Fredrick R.. AU - Cancel-Tassin, Geraldine. AU - Cussenot, Olivier. AU - Valeri, Antoine. AU - Andriole, Gerald L.. AU - Crawford, E. David. AU - Haiman, Christopher A.. AU - Henderson, Brian. AU - Kolonel, Laurence. AU - Le Marchand, Loic. AU - Siddiq, Afshan. AU - Riboli, Elio. AU - Key, Timothy J.. AU - Kaaks, Rudolf. AU - Isaacs, William. AU - Isaacs, Sarah. AU - Wiley, Kathleen E.. AU - Gronberg, Henrik. AU - Wiklund, ...
Author Summary Recent genome-wide analysis has revealed that the way in which genes are arranged on chromosomes and the conformation of these chromosomes are crucial for the regulation of gene expression. Reflecting this arrangement, clusters of genes which are regulated together have been discovered. We have identified a previously unreported transcriptional activity hub spanning ESR1, the gene encoding the important breast cancer biomarker oestrogen receptor. Genetic variants immediately upstream of ESR1 have recently been linked to breast cancer risk. We found that three open reading frames within this region are tightly co-expressed with ESR1. We investigated the function of these genes and discovered that one of these co-expressed genes, C6ORF211, affects proliferation in cultured cells and is correlated with proliferation in breast tumours. Another of the genes, C6ORF97, is negatively correlated with proliferation in breast tumours and predicts for outcome on the anti-oestrogen drug tamoxifen.
Read Genetic mapping of 10 microsatellites in the t complex region of mouse Chromosome 17, Mammalian Genome on DeepDyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips.
Identification of a new prostate cancer susceptibility locus on chromosome 8q24 (P = 1.3 x 10(-10), heterozygote OR = 1.17, 95% CI 1.10-1.24; homozygote OR = 1.33, 95% CI 1.21-1.45). See the entry for rs4242382, which states, A joint-odds analysis indicates that rs4242382(A;A) individuals have increased prostate cancer odds of 3.15x or 1.77x if they are also carrying 2 or 1 rs620861(C) alleles, respectively. ...
The mini OTSC® System Set consists of an applicator cap with a mounted clip, thread, thread retriever and a hand wheel for clip release.. The mini OTSC® clip is delivered by means of an applicator cap mounted to the tip of endoscopes. By turning the hand wheel, the white application ring is pulled towards the distal end of the cap and the clip is released.. The mini OTSC® clip for flexible endoscopy is a superelastic Nitinol® device for compression and approximation of tissue in the digestive tract.. Based on its unique design the clip closes itself and firmly anchors the tissue to be compressed for hemorrhage or closure of a GI organ wall lesion. Due to its smart material properties, the mini OTSC® clip delivers constant force at the application site securing the therapeutic effect. The mini OTSC® clip is made of a biocompatible and MR conditional material and can remain in the body as a longterm implant. ...
Obesity causes dysfunction in major metabolic tissues. The glucose-fatty acid cycle, also known as the Randle hypothesis, provides the first basic concept for h...
Several studies have shown that a micro-duplication within 15q11-13 - a region on chromosome 15 - on the maternal chromosome is associated with autism.
U2OS GFP-ACTB RFP-TUBA1B; ACTB is GFP-tagged on chromosome 7p22.1 and TUBA1B is RFP-tagged on chromosome 12q13.12. The U2OS cells are adherent, with a doubling time of approx. 29 hours.
Candidate gene and genome-wide association studies (GWAS) have identified 15 independent genomic regions associated with bladder cancer risk. In search for additional susceptibility variants, we followed up on four promising single-nucleotide polymorphisms (SNPs) that had not achieved genome-wide significance in 6911 cases and 11 814 controls (rs6104690, rs4510656, rs5003154 and rs4907479, P | 1 × 10(-6)), using additional data from existing GWAS datasets and targeted genotyping for studies that did not have GWAS data. In a combined analysis, which included data on up to 15 058 cases and 286 270 controls, two SNPs achieved genome-wide statistical significance: rs6104690 in a gene desert at 20p12.2 (P = 2.19 × 10(-11)) and rs4907479 within the MCF2L gene at 13q34 (P = 3.3 × 10(-10)). Imputation and fine-mapping analyses were performed in these two regions for a subset of 5551 bladder cancer cases and 10 242 controls. Analyses at the 13q34 region suggest a single signal marked by rs4907479. In contrast
Numerous genetic variants associated with hypertension and blood pressure are known, but there is a paucity of evidence from genetic studies of resistant hypertension, especially in the Asian populations. To identify novel genetic loci associated with resistant hypertension in the Japanese pop...
CCHCR1 (Coiled-Coil α-Helical Rod protein 1), within the major psoriasis susceptibility locus PSORS1, is a plausible candidate gene with the psoriasis associated risk allele CCHCR1*WWCC. Although its expression pattern in psoriatic skin differs from healthy skin and its overexpression influences cell proliferation in transgenic mice, its role as a psoriasis effector gene has remained unsettled. The 5′-region of the gene contains a SNP (rs3130453) that controls a 5′-extended open reading frame and thus the translation of alternative isoforms. We have now compared the function of two CCHCR1 isoforms: the novel longer isoform 1 and the previously studied isoform 3. In samples of Finnish and Swedish families, the allele generating only isoform 3 shows association with psoriasis (P|10−7). Both isoforms localize at the centrosome, a cell organelle playing a role in cell division. In stably transfected cells the isoform 3 affects cell proliferation and with the CCHCR1*WWCC allele, also apoptosis.
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NACHT leucine-rich repeat- and PYD-containing (NLRP)3 protein controls the inflammasome by regulating caspase-1 activity and interleukin (IL)-1 beta processing. The contribution of IL-1 beta in the pathogenesis of psoriasis is well recognized. Polymorphisms in NLRP3 and caspase recruitment domaincontaining protein (CARD)8, a negative regulator of caspase-1 activity, have been associated with susceptibility to common inflammatory diseases, such as Crohns disease and rheumatoid arthritis. To investigate the role for genetic variants in the NLRP3 inflammasome in psoriasis susceptibility. In a patient sample comprising 1988 individuals from 491 families and 1002 healthy controls, genotypes for four selected single-nucleotide polymorphisms (SNPs) in NLRP3 (three SNPs) and CARD8 (one SNP) were determined by TaqMan (R) Allelic Discrimination. Using the transmission disequilibrium test (TDT), a significant increase in the transmission of the NLRP3 rs10733113G genotype to a subgroup of patients with more ...
NACHT leucine-rich repeat- and PYD-containing (NLRP)3 protein controls the inflammasome by regulating caspase-1 activity and interleukin (IL)-1 beta processing. The contribution of IL-1 beta in the pathogenesis of psoriasis is well recognized. Polymorphisms in NLRP3 and caspase recruitment domaincontaining protein (CARD)8, a negative regulator of caspase-1 activity, have been associated with susceptibility to common inflammatory diseases, such as Crohns disease and rheumatoid arthritis. To investigate the role for genetic variants in the NLRP3 inflammasome in psoriasis susceptibility. In a patient sample comprising 1988 individuals from 491 families and 1002 healthy controls, genotypes for four selected single-nucleotide polymorphisms (SNPs) in NLRP3 (three SNPs) and CARD8 (one SNP) were determined by TaqMan (R) Allelic Discrimination. Using the transmission disequilibrium test (TDT), a significant increase in the transmission of the NLRP3 rs10733113G genotype to a subgroup of patients with more ...
Forms of leukemia can be found on six different chromosomes. Acute leukemias can be found on chromosomes 1, 2, and 13, T-Cell developmental leukemia is found on chromosomes 3 and X, and the cause of myelogenous leukemia is in a protein coded for in chromosome 11 at 11p11.9. Chromosome 11 contains 134 million bases. Chromosome 11 has been identified with 151 diseases. Only chromosomes 1, 2, and X contain more currently identified diseases. Chromosome 11 has the most cancerous conditions of all of the chromosomes associated with it ...
in PLoS Genetics (2007), 3(4), 538-543. To identify novel susceptibility loci for Crohn disease (CD), we undertook a genome-wide association study with more than 300,000 SNPs characterized in 547 patients and 928 controls. We found three ... [more ▼]. To identify novel susceptibility loci for Crohn disease (CD), we undertook a genome-wide association study with more than 300,000 SNPs characterized in 547 patients and 928 controls. We found three chromosome regions that provided evidence of disease association with p-values between 10(-6) and 10(-9). Two of these (IL23R on Chromosome 1 and CARD15 on Chromosome 16) correspond to genes previously reported to be associated with CD. In addition, a 250-kb region of Chromosome 5p13.1 was found to contain multiple markers with strongly suggestive evidence of disease association (including four markers with p , 10(-7)). We replicated the results for 5p13.1 by studying 1,266 additional CD patients, 559 additional controls, and 428 trios. Significant ...
Describes rare forms of diabetes that result from mutations in a single gene. Discusses diagnosis, genetic testing, and counseling.
Get an answer for Explain how information is transferred through DNA on chromosomes when cells divide. and find homework help for other Biochemistry questions at eNotes
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(Medical Xpress)-Cracking the DNA code for a complex region of the human genome has helped 14 North American scientists, including five at Simon Fraser University, chart new territory in immunity research.
Genes are carried on chromosomes and the two that are important in PKD are chromosomes 16 and 4. I am not going to deal with the specifics of inheritance - this is best explained on the PKD Foundation web page. The relevant facts are that: 85% people…
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The chapters are numbered for the pairs of human chromosomes, one pair being the X and Y sex chromosomes, so the numbering goes ... The book devotes one chapter to each pair of human chromosomes. Since one (unnumbered) chapter is required to discuss the sex ... the chapters matching the 23 pairs of human chromosomes, and notes that Genome is the third of Ridley's books that "tries to ... The impact of stress on the human body is described starting with the creation of hormones by the CYP17 gene on chromosome 10. ...
Humans have 23 pairs of chromosomes and other great apes have 24 pairs of chromosomes. In the human evolutionary lineage, two ... Human and chimpanzee chromosomes are very similar. The primary difference is that humans have one fewer pair of chromosomes ... Human evolutionary genetics Human chromosome 2 Human Genome Project Suntsova, M.V.; Buzdin, A.A. (2020-09-10). "Differences ... chromosome segment inversions on human chromosomes 1, 4, 5, 9, 12, 15, 16, 17, and 18. After the completion of the Human genome ...
For comparison, the diploid human genome has 20,000-25,000 genes (represented twice) on 23 chromosome pairs. There is a high ... Tandem repeats of trinucleotides are abundant in Dictyostelium, which in humans cause Trinucleotide repeat disorders. Sexual ... the human host of Legionella. The cytoskeletal composition of D. discoideum is similar to that of mammalian cells as are the ... 6 (7): e1001013. doi:10.1371/journal.pgen.1001013. PMC 2895654. PMID 20617172. O'Day DH, Keszei A (May 2012). "Signalling and ...
The chromosome encodes 5,674 potential protein-coding open reading frames. This genome may have undergone numerous gene ... Strains of this species have been isolated from human brain abscesses. N. farcinica contains a 6 million base pair genome with ... Holm, P (July 1975). "Seven cases of human nocardiosis caused by Nocardia farcinica". Sabouraudia. 13 (2): 161-9. doi:10.1080/ ...
The ZNF337 gene is located on human chromosome 20 (20p11.21). Its protein contains 751 amino acids, has a 4,237 base pair mRNA ... 20-27 December 2001). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-71. Bibcode: ... The span of the ZNF337 gene (the start of transcription to the polyA site in base-pairs) is 4,237 base pairs (mRNA). The ZNF337 ... "Human hg38 chr20:25,618,436-25,683,311 UCSC Genome Browser v397". genome.ucsc.edu. Retrieved 2020-05-03. "The Human Protein ...
The human gene TMEM8A is found on chromosome 16 at the band 16p13.3. The span of this gene on chromosome 16 spans from base ... pair 420,773 to 437,113 making this gene 16,340 base pairs in length. This gene is found on the minus strand of the chromosome ... There are two paralogs for TMEM8A found in humans, C9orf127 and TMEM8C. Both of these paralogs are found on Chromosome 9. The ... December 2004). "The sequence and analysis of duplication-rich human chromosome 16" (PDF). Nature. 432 (7020): 988-94. Bibcode: ...
... is essential for homologous chromosome pairing in meiosis during spermatogenesis. Targeted inactivation of FKBP6 in mice ... Mutations in this gene have been associated with male infertility in humans. FKBP6 is deleted in Williams syndrome, however ... 2003). "Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis". Science. 300 (5623): 1291-5. ... PDB: 3B7X​; "RCSB Protein Data Bank - Structure Summary for 3B7X - Crystal structure of human FK506-Binding Protein 6". ...
The human TMCO6 is found on chromosome 5 (position 5q31.3). The entire gene spans 5568 base pairs on the positive strand of ... 1,925 base pair mRNA sequence. Variant 2 is the second longest at 1,907 base pairs in length and also consists of 12 exons. ... 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 ... TMCO6 is expressed in liver tissue and is found during the fetal stage of development in humans. Orthologs of the TMCO6 protein ...
CTNS is located on the p arm of human chromosome 17, at position 13.2.[5] It spans base pairs 3,636,468 and 3,661,542, and ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. .mw-parser-output ... "American Journal of Human Genetics. 63 (5): 1352-62. doi:10.1086/302118. PMC 1377545. PMID 9792862.. ... "American Journal of Human Genetics. 69 (4): 712-21. doi:10.1086/323484. PMC 1226058. PMID 11505338.. ...
Schäfer BW, Mattei MG (July 1993). "The human paired domain gene PAX7 (Hup1) maps to chromosome 1p35-1p36.2". Genomics. 17 (1 ... Paired box protein Pax-7 is a protein that in humans is encoded by the PAX7 gene. Pax-7 plays a role in neural crest ... Pilz AJ, Povey S, Gruss P, Abbott CM (March 1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... PAX7+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) PAX7 human gene location in the UCSC ...
... is a human protein that is encoded by the C3orf30 gene located on the forward strand of human chromosome three, open reading ... The mRNA of TEX55 is 1800 base pairs long and has three exons. According to GeneCard, the TEX55 mRNA has 3 theoretical splice ... Expression of TEX55 mRNA can be found in most tissues in the human body, from the brain to the prostate. However, the protein ... Analysis done by the Human Protein Atlas indicates that the TEX55 protein can be found not only in the testis, but also the ...
The gene C1orf74 is a protein-encoding gene on chromosome 1 in humans. It is also known as URLC4 in humans. The locus of this ... C1orf74 is 2229 base pairs long. The gene contains two exons. C1orf74 is downstream of the gene interferon regulatory factor 6 ... "C1orf74 chromosome 1 open reading frame 74 [Homo sapiens (human)]". NCBI Gene. NCBI. Retrieved 8 May 2015. "Homo sapiens ... May 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. Bibcode:2006Natur. ...
Human PTCHD4 is located on the negative strand of chromosome 6, at 6p12.3. From there, it covers 190,350 base pairs, which ... Check date values in: ,accessdate= (help) "The Human Protein Atlas". The Human Protein Atlas. Retrieved 2015. Check date values ... "The Human Gene Compendium". Gene Cards. Retrieved 2015. Check date values in: ,accessdate= (help) "National Center for ... Sequenced distant orthologs of human PTCHD4 have been found as far back in evolution as mold, which shows a conservation of 16 ...
The gene is located on chromosome 19 at p13.3 on the forward strand. The gene is 4041 base pairs in length and contains 29 ... ANKRD24 has no human paralogs. Orthologous proteins are found in other organisms. The following table represents some of the ... Ankyrin repeat domain-containing protein 24 is a protein in humans that is coded for by the ANKRD24 gene. The gene is also ... The protein's function in humans is currently unknown. ANKRD24 is in the protein family that contains ankyrin-repeat domains. ...
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". www.ncbi.nlm.nih.gov. Retrieved 2019-05-06. " ... "C4orf51 chromosome 4 open reading frame 51 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2019-04-21. ...
In humans, aldolase B is encoded by the ALDOB gene located on chromosome 9. The gene is 14,500 base pairs long and contains 9 ... 1988). "Human aldolase B gene: characterization of the genomic aldolase B gene and analysis of sequences required for multiple ... Ali M, Sebastio G, Cox TM (1994). "Identification of a novel mutation (Leu 256→Pro) in the human aldolase B gene associated ... Aldolase+B at the US National Library of Medicine Medical Subject Headings (MeSH) Human ALDOB genome location and ALDOB gene ...
... is located on the X chromosome at locus Xq13.1. It is 1,831 base pairs long and the gene sequence has 6 exons. ... LOC101059915 is a protein, which in humans is encoded by the LOC101059915 gene. It is located on the X chromosome and has ... and between base pair 71666098 and 71667904 on the X chromosome. It spans up to 1.806 bp. Expression of LOC101059915, however, ... Compared to other human proteins LOC101059915 is glycine-, proline-rich, and serine-rich but the protein has lower levels of ...
... is a protein that in humans is encoded by the LRRN3 gene. The LRRN3 is located on human chromosome 7, at 7q31.1. It contains 6 ... with the longest transcript variant being 3744 base pairs in length. All three of these transcript variants have differing ... Gene Expression data has shown that the LRRN3 gene is expressed at very high levels in humans, about 2.3 times the average gene ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Mouse PubMed ...
... is located on the long arm of chromosome 1 (1.q22-1.q23) and was cloned in 1993. The gene was first localised to chromosome 1 ... DARC+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) Duffy at BGMUT Blood Group Antigen ... The mouse gene has two exons (100 and 1064 nucleotides in length respectively), separated by a 461 base pair intron. In the ... The ancestral form of extant DARC alleles in humans appears to be the FY*B allele. The gene appears to be under strong ...
In a common situation a human cell has one pair of identical chromosomes on chromosome 1. With the 1q21.1 CNVs one chromosome ... Meiosis is the process of dividing cells in humans. In meiosis, the chromosome pairs splits and a representative of each pair ... In this way the number of chromosomes will be halved in each cell, while all the parts on the chromosome (genes) remain, after ... 1q21.1 copy number variations (CNVs) are rare aberrations of human chromosome 1. ...
In humans, lactoferrin gene LTF is located on the third chromosome in the locus 3q21-q23. In oxen, the coding sequence consists ... insertions and mutations of stop codons affect the coding part and its length varies between 2,055 and 2,190 nucleotide pairs. ... Human colostrum ("first milk") has the highest concentration, followed by human milk, then cow milk (150 mg/L). Lactoferrin is ... lactoferrin shows potent activity against both human immunodeficiency virus and human cytomegalovirus replication in vitro". J ...
... is from base pair 50,384,290 to base pair 50,418,018 on chromosome 19.[26] The mouse orthologue maps to mouse chromosome 7.[27] ... in human Homo sapiens Mus musculus Saccharomyces cerevisiae Schizosaccharomyces pombe A (catalytic) p125 POLD1-Chr 19q13.3 ... Table 1: Gene names and chromosomal locations for the various subunits of polymerase delta in human, mouse, budding and fission ... Figure 2: Conserved motifs in the exonuclease domain of human p125. Motifs I to III are conserved in the B-family of ...
This gene is found on the plus strand of chromosome 17 at locus 17q11.2. It spans from base pairs 31,254,928 to 31,272,124. ... "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome ... This missing region corresponds to 85 base pairs near the end of the 5' UTR. Variant one is more abundant than Variant two with ... Transmembrane protein 98 is a single-pass membrane protein that in humans is encoded by the TMEM98 gene. The function of this ...
The human genome's GC content is about 41%. Accounting for the autosomal, X, and Y chromosomes, human haploid GC contents are ... However, the base pairs of the XX female zygote are distributed among 2 homologous groups of 23 heterologous chromosomes each, ... The X gamete contains an X chromosome, while the Y gamete contains a Y chromosome. The larger size of the X chromosome is ... Although each zygote has 46 chromosomes, 23 chromosomes of the XX female zygote are heterologous while 24 chromosomes of the XY ...
The tmem242 gene is located on chromosome 6, on the long arm, in band 2 section 5.3. This protein is also commonly called ... The tmem242 gene is 35,238 base pairs long, and the protein is 141 amino acids in length. The tmem242 gene contains 4 exons. ... "TMEM242 transmembrane protein 242 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2019-02-26. v t e. ... Transmembrane Protein 242 is a protein encoded by the Transmembrane 242 (tmem242) gene located in the human genome. ...
The tmem242 gene is located on chromosome 6, on the long arm, in band 2 section 5.3. This protein is also commonly called ... The tmem242 gene is 35,238 base pairs long, and the protein is 141 amino acids in length. The tmem242 gene contains 4 exons. ... There are ubiquitous basal level expression of tmem242 in all tissues in human and mouse. There are other tissues with increase ... "Entrez Gene: chromosome 6 open reading frame 35". "transmembrane protein 242 [Homo sapiens]". Protein - NCBI. National Center ...
The human TBR1 gene is located on the q arm of the positive strand of chromosome 2. It is 8,954 base pairs in length. TBR1 is ... "Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins". ... Orthologs of the human TBR1 gene have been identified in chimpanzee, dog, cow, rat, mouse, and zebrafish. In mice, TBR1 has ... It was discovered that Tbr-1 is expressed by postmitotic cortical neurons in mice and in humans. One target gene of TBR1 in the ...
The human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell ... The genome is organized into 22 paired chromosomes, termed autosomes, plus the 23rd pair of sex chromosomes (XX) in the female ... The haploid human genome (23 chromosomes) is about 3 billion base pairs long and contains around 30,000 genes. Since every base ... Chromosome lengths estimated by multiplying the number of base pairs by 0.34 nanometers (distance between base pairs in the ...
In humans, the gene is 51,558 base pairs long. The transcript that produces the longest protein of 140 amino acids is ... October 2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805-11. Bibcode:2003Natur.425..805M. ... is a protein that in humans is encoded by the C6orf201 gene. In humans this gene encodes for a nuclear protein that is ... In humans the longest protein variant is 140 amino acids long, has a molecular weight of 16.2 kDa, and an isoelectric point of ...
... is located on the X chromosome at Xq13.1. It is 3912 base pairs long and the gene sequence has 6 exons. CXorf49 has one ... CXorf49 is a protein, which in humans is encoded by the gene chromosome X open reading frame 49(CXorf49). The CXorf49 gene has ... CXorf49 has developed from aardvarks, to the human protein over 105.0 million years. "Homo sapiens chromosome X open reading ... CS1 maint: discouraged parameter (link) "CXorf49 chromosome X open reading frame 49 [Homo sapiens (human)] - Gene - NCBI". Ncbi ...
This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.. *v ... "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... Homeobox protein Hox-D8 is a protein that in humans is encoded by the HOXD8 gene.[5][6][7] ... Goodman FR (2003). "Limb malformations and the human HOX genes". Am. J. Med. Genet. 112 (3): 256-65. doi:10.1002/ajmg.10776. ...
The institute is also the first develop a test to detect chromosome translocations in human embryos to increase the success ... 2009 First Paired Kidney Exchange in New Jersey Performed, Family Health Magazine, Spring/Summer 2006 - accessed July 11, 2009 ... Human cloning is a long way off, but bioengineered kids are already here, Washington Monthly, March 2002 - accessed July 11, ... The division performed the first paired kidney exchange in New Jersey at Saint Barnabas Medical Center in 2005. Over time, it ...
They are usually found in pairs (diplococci) and do not form spores and are nonmotile.[2] As a significant human pathogenic ... For a bacterium to bind, take up, and recombine exogenous DNA into its chromosome, it must enter a special physiological state ... The genome of S. pneumoniae is a closed, circular DNA structure that contains between 2.0 and 2.1 million base pairs depending ... pneumoniae can be found in the human upper respiratory system. A study of competition in vitro revealed S. pneumoniae ...
When adenine is deaminated, it becomes hypoxanthine, which can pair with cytosine. During replication, the cytosine will pair ... It further contends that only a minority of the genetic material is kept in circular chromosomes while the rest is in branched ... but not human mtDNA).[21] ... Hypoxanthine can bind to cytosine, and when the XC base pair is ... Chloroplast DNAs are circular, and are typically 120,000-170,000 base pairs long.[4][7][8] They can have a contour length of ...
... except that the sequences at these loci may differ between the two chromosomes in a matching pair and that a few chromosomes ... For organisms in which the male is heterogametic, such as humans, almost all X-linked genes are hemizygous in males with normal ... chromosomes because they have only one X chromosome and few of the same genes are on the Y chromosome. Transgenic mice ... A chromosome in a diploid organism is hemizygous when only one copy is present.[2] The cell or organism is called a hemizygote ...
Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene.[5] ... Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... Poleev A, Fickenscher H, Mundlos S, Winterpacht A, Zabel B, Fidler A, Gruss P, Plachov D (November 1992). "PAX8, a human paired ... Members of this gene family typically encode proteins which contain a paired box domain, an octapeptide, and a paired-type ...
... is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6 (not to be ... The haplotype begins before the TRIM27 locus approximately 28.8 million nucleotides from the telomere of chromosome 6's shorter ... 1 million base pairs centromeric from DQ2.5 may also be associated with Type 1 diabetes. In addition the BAT1 and MICB variant ... These unique chromosomes are produced by recombination of each unique chromosome passed by each grandparent to each parent. ...
Because RPS6KA3 is located on the X chromosome, males (who possess only one copy of the X chromosome) display more severe ... "Coffin-Lowry syndrome". European Journal of Human Genetics 18, 627-633 (2010). doi:10.1038/ejhg.2009.189 ... In 2002, Helen Fryssira and RJ Simensen identified a 3 base pair deletion in the gene encoding RSK2, which was the first report ... The syndrome is caused by mutations in the RPS6KA3 gene.[1] This gene is located on the short arm of the X chromosome (Xp22.2 ...
By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... "American Journal of Human Genetics. 64 (1): 225-31. doi:10.1086/302198. PMC 1377721. PMID 9915962.. ... Van Den Berghe, Pierre L (2010). "Human inbreeding avoidance: Culture in nature". Behavioral and Brain Sciences. 6: 91-102. doi ... HumansEdit. See also: Incest, Incest taboo, Pedigree collapse, and Cousin marriage ...
... so each human chromosome can be identified by a characteristic color using whole-chromosome probe mixtures and a variety of ... Each probe for the detection of mRNA and lncRNA is composed of 20 oligonucleotide pairs, each pair covering a space of 40-50 bp ... The chromosomes can be seen in blue. The chromosome that is labeled with green and red spots (upper left) is the one where the ... Then, an interphase or metaphase chromosome preparation is produced. The chromosomes are firmly attached to a substrate, ...
Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the PSEN1 gene.[5] Presenilin-1 is one of the four ... Kang DE, Soriano S, Xia X, Eberhart CG, De Strooper B, Zheng H, Koo EH (September 2002). "Presenilin couples the paired ... "Genetic linkage evidence for a familial Alzheimer's seasesease locus on chromosome 14". Science. 258 (5082): 668-71. Bibcode: ... Tanahashi H, Tabira T (February 1999). "Isolation of human delta-catenin and its binding specificity with presenilin 1". ...
... genome of MAP strain K-10 was sequenced in 2005 and found to consist of a single circular chromosome of 4,829,781 base pairs, ... It has long been suspected as a causative agent in Crohn's disease in humans,[4][5] but studies have been unable to show ... Recent studies have shown that MAP present in milk can survive pasteurization, which has raised human health concerns due to ... It is the causative agent of Johne's disease, which affects ruminants such as cattle, and suspected causative agent in human ...
Sigurdsson S, Van Komen S, Petukhova G, Sung P (Nov 2002). "Homologous DNA pairing by human recombination factors Rad51 and ... condensed chromosome. • nuclear chromosome, telomeric region. • nucleus. • nuclear chromatin. • lateral element. • cytosol. • ... nuclear chromosome. • mitochondrial matrix. • nucleolus. • mitochondrion. • perinuclear region of cytoplasm. • chromatin. • ... condensed nuclear chromosome. • macromolecular complex. Biological process. • regulation of protein phosphorylation. • strand ...
V. faba has a diploid (2n) chromosome number of 12 (six homologous pairs). Five pairs are acrocentric chromosomes and one pair ... It is of uncertain origin[1]:160 and widely cultivated as a crop for human consumption. It is also used as a cover crop, the ... In much of the English-speaking world, the name "broad bean" is used for the large-seeded cultivars grown for human food, while ... might frown on human consumption. But in Liguria, a maritime region near northern Italy, fava beans are loved raw, and consumed ...
... even though the fox genome has 16 pairs of metacentric autosomes and the dog has 37 pairs of acrocentric autosomes.[10] ... These were foxes that were eager to have human contact. By the 10th generation 18 percent of fox pups were in this "elite" ... Using 320 microsatellites Trut and co-workers showed that all 16 fox autosomes and one X chromosome were covered, and that ... Lyudmila N. Trut (born 6 November 1933) is a Russian Geneticist, Ethologist, and Evolutionist known for developing domesticated ...
... usually have a single circular chromosome,[129] with as many as 5,751,492 base pairs in Methanosarcina acetivorans,[130 ... making up about one in ten of all the prokaryotes in the human gut.[197] In termites and in humans, these methanogens may in ... Circular chromosomes, similar translation and transcription to Eukarya. Circular chromosomes, unique translation and ... after the cell's chromosome is replicated and the two daughter chromosomes separate, the cell divides.[154] In the genus ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... See also: Category:Genes on human chromosome 16.. The following is a partial list of genes on human chromosome 16. For complete ... "Chromosome 16". Genetics Home Reference. Retrieved 2017-05-06.. *. "Chromosome 16". Human Genome Project Information Archive ... Human chromosome 16 pair after G-banding.. One is from mother, one is from father. ...
... each human diploid cell (containing 23 pairs of chromosomes) has about 1.8 meters of DNA; wound on the histones, the diploid ... This involves the wrapping of DNA around nucleosomes with approximately 50 base pairs of DNA separating each pair of ... of the human genome in five human cell lines". Genome Research. 17 (6): 691-707. doi:10.1101/gr.5704207. PMC 1891331. PMID ... Chromosome condensation[edit]. Phosphorylation of H3 at serine 10 (phospho-H3S10). The mitotic kinase aurora B phosphorylates ...
Genetically, there are 74 diploid chromosomes (36 pairs). Appearance[edit]. The crab-eating fox is predominantly greyish-brown ... its habitat is slowly shrinking due to human activity such as agriculture, as well as feral dogs' encroachment on its territory ... The adult female gives birth to one or two litters per year, and the breeding pair is monogamous. The pair ranges the plains ... It either hunts individually or lives in pairs; it eats crabs, lizards and different flying animals. It is easy to domesticate ...
Likewise, gray wolf Y-chromosomes have also been found in a few individual male Texan coyotes.[11] This study suggested that ... By late 2012, it was estimated that there were at least 75 wolves and four breeding pairs living in the recovery areas, with 27 ... The Mexican wolf persisted longer in Mexico, as human settlement, ranching and predator removal came later than in the ... A pair of Mexican wolves with pups at Sevilleta Wolf Management Facility in Socorro, New Mexico ...
Pu'er with chrysanthemum is the most common pairing, and referred as guk pou or guk bou (菊普; Cantonese Yale: guk1 pou2; pinyin ... Larger specimens of this shape are sometimes called "human-head tea" (人頭茶), due in part to its size and shape, and because in ... This notion has recently been refuted through a systematic chromosome analysis of the species attributed to many East Asian ... Wild trees (gŭshù, 古树; literally "old tree"): Teas from old wild trees, grown without human intervention, are the highest ...
Crosland, M.W.J., Crozier, R.H. Myrmecia pilosula, an ant with only one pair of chromosomes. Science. 1986, 231 (4743): 1278. ... Ijdo, J. W., Baldini, A., Ward, D. C., Reeders, S. T., & Wells, R. A. Origin of human chromosome 2: an ancestral telomere- ... 選擇可以作用在基因而非個體的層級,即使降低個體的適應度,自私DNA仍然可以演化,造成基因組內部衝突。例子包括跳躍子、減數分裂驅動者(meiotic drivers)、殺手X染色體(killer X chromosomes)、自私粒線體(
Genes on human chromosome 11. *Genes on human chromosome 14. *Genes on human chromosome 20 ... In 1943, with the help of Arda Green, the pair illustrated that glycogen phosphorylase existed in either the a or b forms ... The cloning of the human liver glycogen phosphorylase (HLGP) revealed a new allosteric binding site near the subunit interface ... 6 (6): 2274-82. PMID 1544539.. *^ Newgard CB, Hwang PK, Fletterick RJ (1989). "The family of glycogen phosphorylases: structure ...
This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.. *v ... "Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for ... "AIDS Research and Human Retroviruses. 6 (3): 371-80. doi:10.1089/aid.1990.6.371. PMID 2187500.. ... Human GAA genome location and GAA gene details page in the UCSC Genome Browser. ...
HumansEdit. Humans are bilaterals and deuterostomes. In humans, the term embryo refers to the ball of dividing cells from the ... Pair-rule genes define 7 segments of the embryo within the confines of the second broad segment that was defined by the gap ... Thus, a fly whose chromosomes are mutant in both copies of the Bicoid gene but who is born from a mother carrying one normal ... As of today, human embryology is taught as a cornerstone subject in medical schools, as well as in biology and zoology programs ...
"MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice". ... Yi W, Wu X, Lee TH, Doggett NA, Her C (Jul 2005). "Two variants of MutS homolog hMSH5: prevalence in humans and effects on ... Her C, Wu X, Griswold MD, Zhou F (Feb 2003). "Human MutS homologue MSH4 physically interacts with von Hippel-Lindau tumor ... Räschle M, Dufner P, Marra G, Jiricny J (Jun 2002). "Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha ...
"A Y Chromosome Census of the British Isles" (PDF).. *^ Härke, Heinrich; Thomas, Mark G; Stumpf, Michael P H. "Integration ... earthsky.org/human-world/jawbone-is-earliest-evidence-of-modern-humans-in-europe ... The Acts of Union between the Kingdom of England and the Kingdom of Scotland were a pair of Parliamentary Acts passed by both ... "Y Chromosome Evidence for Anglo-Saxon Mass Migration".. *^ " ... Continuous human habitation in England dates to around 13,000 ...
... chromosome translocation in a human leukemia T-cell line indicates that putative regulatory regions are not altered". Proc. ... 3.2) Paired box. PAX (1, 2, 3, 4, 5, 6, 7, 8, 9) ... to the human c-myc oncogene; presence of a long inverted repeat ... Astrin SM, Laurence J (1992). "Human immunodeficiency virus activates c-myc and Epstein-Barr virus in human B lymphocytes". Ann ... ATBF1 • BCL (6, 11A, 11B) • CTCF • E4F1 • EGR (2, 3) • ERV3 • GFI1 • GLI-Kruppel familija (1, 2, 3, REST, S2, YY1) • HIC (1, 2) ...
"Final report on the human rights situation of the Roma, Sinti and travellers in Europe". The European Commissioner for Human ... "Y CHROMOSOME SINGLE NUCLEOTIDE POLYMORPHISMS TYPING BY SNaPshot MINISEQUENCING" (PDF). Bjmg.edu.mk. Retrieved 20 December 2016. ... and art present romanticized narratives of mystical powers of fortune telling or irascible or passionate temper paired with an ... European Journal of Human Genetics. 9 (2): 97-104. doi:10.1038/sj.ejhg.5200597. PMID 11313742. Archived from the original (PDF) ...
... a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in situ ... Paired box protein Pax-1 is a protein that in humans is encoded by the PAX1 gene. This gene is a member of the paired box (PAX ... 1989). "Conservation of the paired domain in metazoans and its structure in three isolated human genes". EMBO J. 8 (4): 1183-90 ... 2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-71. doi:10.1038/414865a. ...
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Bulkiest Human Sequence Packs Medical Arsenal DNA Protein Analysis Of Human Chromosome 6, Counts 166,880,988 Base Pairs, Covers ...
"Chromosomes, Human, Pair 6" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... This graph shows the total number of publications written about "Chromosomes, Human, Pair 6" by people in this website by year ... Below are the most recent publications written about "Chromosomes, Human, Pair 6" by people in Profiles. ... Below are MeSH descriptors whose meaning is more general than "Chromosomes, Human, Pair 6". ...
Using homozygosity mapping, we found linkage to chromosome 6p12.1-q12 and, in 15 independent families, identified … ... Chromosome Mapping * Chromosomes, Human, Pair 6 * Cranial Sutures / growth & development* * Genes, Recessive ... Using homozygosity mapping, we found linkage to chromosome 6p12.1-q12 and, in 15 independent families, identified five ...
Given the immunologic dysregulation in IBD, the human-leukocyte-antigen region on chromosome 6p is of significant interest. ... Here we report on a two-stage linkage and association analysis of both a basic population of 353 affected sibling pairs (ASPs) ... Linkage of inflammatory bowel disease to human chromosome 6p Am J Hum Genet. 1999 Dec;65(6):1647-55. doi: 10.1086/302677. ... Given the immunologic dysregulation in IBD, the human-leukocyte-antigen region on chromosome 6p is of significant interest. ...
The chapters are numbered for the pairs of human chromosomes, one pair being the X and Y sex chromosomes, so the numbering goes ... The book devotes one chapter to each pair of human chromosomes. Since one (unnumbered) chapter is required to discuss the sex ... the chapters matching the 23 pairs of human chromosomes, and notes that Genome is the third of Ridleys books that "tries to ... The impact of stress on the human body is described starting with the creation of hormones by the CYP17 gene on chromosome 10. ...
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification. ... Human, Pair 3" by people in Harvard Catalyst Profiles by year, and whether "Chromosomes, Human, Pair 3" was a major or minor ... "Chromosomes, Human, Pair 3" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 3" by people in Profiles. ...
Chromosome Mapping. Chromosomes, Human, Pair 6 / genetics*. Female. Humans. Male. Pedigree. Grant Support. ... Previous Document: The chromosome 6 sequencing project at the Sanger Centre.. Next Document: Isolation and characterisation of ... 7702208 - A genetic and physical map of bovine chromosome 3.. 2888718 - Isolation of a polymorphic genomic clone from ... 2035528 - Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanc.... ...
... is caused by expansion of an unstable CAG triplet repeat located on the short arm of chromosome 6. Precise mapping has shown a ... Chromosome Mapping. Chromosomes, Human, Pair 6*. Female. Haplotypes. Humans. Japan. Linkage Disequilibrium. Male. Pedigree. ... Spinocerebellar ataxia 1 (SCA1) is caused by expansion of an unstable CAG triplet repeat located on the short arm of chromosome ... 6. Precise mapping has shown a positional relationship to closely linked markers in the order of D6S109-D6S274-D6S288-SCA1- ...
G-banding ideogram of human chromosome 1 in resolution 850 bphs. Band length in this diagram is proportional to base-pair ... Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all ... See also: Category:Genes on human chromosome 1.. The following is a partial list of genes on human chromosome 1. For complete ... Wikimedia Commons has media related to Human chromosome 1.. *. National Institutes of Health. "Chromosome 1". Genetics Home ...
In each human cell, the DNA is packaged in 23 pairs of chromosomes. In some WM cells, a piece of a chromosome is missing. This ... a piece of one chromosome becomes attached to a different chromosome. Chromosome changes like these can cause oncogenes to be ... The most common chromosome defect seen in WM is a deletion of part of chromosome 6. Its not clear exactly which genes this ... Another type of chromosome defect in WM is called a translocation. In a translocation, ...
Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 6: entries, gene ... The human leukocyte antigen lies on chromosome 6, with the exception of the gene for β2-microglobulin (which is located on ... The following is a partial list of genes on human chromosome 6. For complete list, see the link in the infobox on the right. ... The following are some of the genes located on p-arm (short arm) of human chromosome 6: ADTRP: encoding protein Androgen- ...
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 6, one copy inherited from ... Breakthrough chromosome imaging could aid in development of new treatments Chromosomes, each containing hundreds or thousands ... Chromosome 6 likely contains between 1,100 and 1,600 genes.. Genes on chromosome 6 are among the estimated 20,000 to 25,000 ... Chromosome scanner that protects against cancer identified In a new study, researchers from the University of Copenhagen have ...
... human organ systems, botany, zoology and other topics ... There are 23 pairs of chromosomes in each human cell.. 6. The ... 5. The number of chromosomes in a human cell is _______.. 2 4 23 46. Answer: Answer: 46. ... During the anaphase, longitudinal splitting of the chromosomes occurs.. 14. The interphase and mitosis together constitute the ... The nuclear membrane is formed around the newly-formed sets of daughter chromosomes during the telophase.. True. False Answer: ...
Chromosomes, Human, Pair 13 - genetics Chromosomes, Human, Pair 9 - genetics Genes, Recessive Genetic Linkage Humans Phenotype ... Chromosomes, Human, Pair 11 - genetics Chromosomes, Human, Pair 9 - genetics Female Finland Genetic markers Genetic ... Chromosomes, Human, Pair 9 - genetics Cohort Studies DNA Mutational Analysis De Lange Syndrome - genetics Female Humans Male ... Chromosome Mapping Chromosomes, Human, Pair 9 - genetics Comorbidity Genetic Linkage Genetic markers Genetic Predisposition to ...
Chromosomes, Human, 21-22 and Y [A11.284.187.520.300.505]. *Chromosomes, Human, Pair 22 [A11.284.187.520.300.505.515] ... An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long ... "Philadelphia Chromosome" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical ... The landscape of BCR-ABL mutations in patients with Philadelphia chromosome-positive leukaemias in the era of second-generation ...
DNA is wrapped together to form chromosomes. Most cells have 23 pairs of chromosomes, for a total of 46. ... Genes are sections or segments of DNA carried on chromosomes that determine specific human characteristics (like height and ... The launch of precision medicine came when the international Human Genome Project successfully sequenced the human genome - " ... Sequencing means figuring out the exact order of base pairs in a segment of DNA. Bases are the "building blocks" of DNA that ...
... of the human genome. The finished sequence comprises 166,880,988 base pairs, representing the largest chromosome sequenced so ... The DNA sequence and analysis of human chromosome 6.. Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, Jones ... Considering our results together with those previous reports that antibodies recognizing human CD101 modulate human T-cell and ... and sequence mining of the human orthologous region to generate an integrated map of the Idd10 region on mouse chromosome 3. We ...
1a ) were evaluated in LD-PCR using human-rodent monochromosomal DNA. A 10-kb band can be detected only on chromosome 7 as ... b) Evaluation of the U6198-L6186 primer pair on DNA extracted from human-rodent monochromosomal cell lines. M, molecular mass; ... Conservation of the ERVWE1 locus in the human population. (a) Schematic representation of the human ERVWE1 locus including ... Other cell lines were as follows: LC5, human lung fibroblasts; HeLa, human epithelioid carcinoma cells (ATCC CCL2); TELCeB6 ...
Chromosome 5 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 5 ... A ring chromosome occurs when both ends of a broken chromosome are reunited. G-banding ideograms of human chromosome 5 "Human ... "Chromosome 5: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 5: ... Chromosome 5 is the 5th largest human chromosome, yet has one of the lowest gene densities. This is partially explained by ...
chromosomes, human, pair 3 (4) * dna (4) * body tissue (3) * genes (3) ... Accessibility to and Quality of Human Eye Tissue for Research: A Cross-Sectional Survey of ARVO Members PDF ...
6p21.32 [Link to chromosome band 6p21]. Location_base_pair. Starts at 32180968 and ends at 32184322 bp from pter ( according to ... The human AGER (RAGE) gene lies within the major histocompatibility complex class III region on chromosome 6, which contains ... RAGE is constitutively expressed in human gastric carcinoma cell lines, and poorly differentiated human gastric carcinomas ... RAGE, as well as its ligands, is highly expressed in normal lung, but unlike other cancers, RAGE is markedly reduced in human ...
Stored on 23 pairs of chromosomes are 50,000 to 100,000 genes, collectively. called the human genome. If you could unravel and ... Fortunately, humans are not "virgins" at exposure to poisons.. The human body, when properly nourished, has an enormous ... in the human body. You might react to wheat products only. if you consume citrus at the same meal and are under stress.. ... cell in the human body takes an average of 1,000 to 10,000 "hits". or DNA breaks each day. Imagine sitting on your roof in the ...
Linkage study of chromosome 6p in sib-pairs with schizophrenia. American Journal of Medical Genetics 74(3), pp. 319-323. (. 3.0 ... A systematic genomewide linkage study in 353 sib pairs with schizophrenia. The American journal of human genetics 73(6), pp. ... Linkage study of chromosome 6p in sib-pairs with schizophrenia. American Journal of Medical Genetics 74(3), pp. 319-323. (. 3.0 ... A linkage study of chromosome 22q in SIB-pairs with schizophrenia. Schizophrenia Research 29(1-2), pp. 131-132. (10.1016/S0920- ...
Chromosome. A chromosome is like a packet of coiled up DNA. Humans have 23 pairs of chromosomes. They are in the nucleus of ... It coils up tightly inside chromosomes. DNA is a double helix made from two strands which are joined together by pairs of bases ... Researchers found the part of a human chromosome that has the gene for making insulin. ... The insulin produced by genetic engineering is identical to human insulin which is an added advantage of this process. ...
A chromosome consists of millions of base pairs, some of which are called genes. In humans, a single gene may be on average ... around 10 to 50 thousand base pairs long. [1] When a gene is expressed, a specific protein is produced. The first step in this ... In this scenario, that common net present 5 $410 6 $736 value, at a cost of capital of 13.14% is: $182 7 ($200) e. What is ... 1390 Words , 6 Pages. Copyright © 2013 by The McGraw-Hill Companies, Inc. All rights reserved. Chapter Conceptual Framework of ...
Chromosome, Eukaryotic The deoxyribonucleic acid (DNA) of eukaryotic cells carries the blueprint for the biosynthesis of ... An average human chromosome contains approximately 240 million base pairs.. Chromosomes exist to hold genes, of course, and ... In human cells, six billion base pairs are contained on the forty-six chromosomes of double-stranded DNA. This DNA has a total ... Each pair of chromosomes can replicate up to nine times; thus, the resultant polytene chromosome can contain up to 1,024 (29) ...
... base pairs) and represents more than 6 percent of the total DNA in cells. Learn about health implications of genetic changes. ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 4, one copy inherited from ... Ensembl Human Map View. *Goldfrank D, Schoenberger E, Gilbert F. Disease genes and chromosomes: disease maps of the human ... Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a ...
... of the DNA in the human genome and contains around 1000 to 1100 genes, some of which have been linked to human disease. ... Chromosome 4 is the fourth largest of the 23 pairs of chromosomes in humans. Chromosome 4 spans about 191 million base pairs, ... Cancers related to chromosome 4. The PDGFRA gene is found on chromosome 4. Deletion of a part of chromosome 4 resulting in the ... This chromosome represents around 6% to 6.5% of the DNA in the human genome and contains around 1000 to 1100 genes. ...
... of homologous chromosomesHuman diploid cell has ____ chromosomes arranged in ____ pairs • The 46 chromosomes contain Two ... Section 14-1: Human Heredity II. Human Traits • Humans have 46 total chromosomes • 44 _____________ follow regular Mendelian ... Human Chromosomes • Karyotype: • A picture of chromosomes taken during mitosis and cut out and arranged into homologous pairs. ... The Y chromosome is smaller than the X Sex Chromosomes differ same autosomes XX XY Section 14-2: Human Chromosomes ...
  • A chromosome is a structure that occurs within cells and that contains the cell's genetic material. (encyclopedia.com)
  • 1. Chromosome banding patterns provide independent confirmation of relationship in hominids, in addition to anatomical, physiological, genetic, and molecular evidence. (indiana.edu)
  • Robert Plomin 's announcement in 1997 of the discovery of "a gene for intelligence" on chromosome 6 is the foundation for this chapter's lengthier discussion of the genetic basis for intelligence . (wikipedia.org)
  • For chromosome 9, the book examines the discussion of the blood-typing genetic sequences. (wikipedia.org)
  • Identifying genes on each chromosome is an active area of genetic research. (medlineplus.gov)
  • About 40 percent of cases of 6q24-related transient neonatal diabetes mellitus are caused by a genetic change known as paternal uniparental disomy (UPD) of chromosome 6. (medlineplus.gov)
  • Another 40 percent of cases of 6q24-related transient neonatal diabetes mellitus occur when the copy of chromosome 6 that comes from the father has a duplication of genetic material including the paternally expressed imprinted genes in the 6q24 region. (medlineplus.gov)
  • The dual problem of how to store this large amount of genetic information but also to keep it accessible for use and for faithful maintenance, copying, and distribution to daughter cells during cell division , is solved by using proteins to package the DNA into chromosomes. (encyclopedia.com)
  • Genetic changes to the long-arm of chromosome 4 (4q) at point 35 (4q35) results in the development of FSHD. (news-medical.net)
  • D. In humans, _______________ (reproductive cells of egg and sperm) contain a single copy of each gene (one set of genetic information). (slideserve.com)
  • A review by Gagneux and Varki 2 described a list of genetic differences between humans and the great apes. (answersingenesis.org)
  • All the cells in the human body contain a center, called a nucleus, in which genetic code of each human being is stored. (bartleby.com)
  • A genetic locus is the place on homologous chromosome pairs where genes are located. (aappublications.org)
  • Restriction fragment length polymorphism analysis was used as a molecular genetic approach to examine loci on chromosome 6q for loss of constitutional heterozygosity (LOH). (elsevier.com)
  • For example, rearrangements (translocations) of genetic material between chromosome 4 and several other chromosomes have been associated with leukemias, which are cancers of blood-forming cells. (nih.gov)
  • Facioscapulohumeral muscular dystrophy is caused by genetic changes involving the long (q) arm of chromosome 4. (nih.gov)
  • PDGFRA -associated chronic eosinophilic leukemia is caused by genetic abnormalities that involve the PDGFRA gene, a gene found on chromosome 4. (nih.gov)
  • The knowledge of genetic variants shaping human placental transcriptome is limited and they are not cataloged in the Genotype-Tissue Expression project. (frontiersin.org)
  • In summary, the study emphasizes the role of genetic variation in driving the transcriptome profile of the human placenta and the importance to explore further its functional implications. (frontiersin.org)
  • Although it was originally thought that 97% of human Deoxyribonucleic acid: the chemical inside the nucleus of a cell that carries the genetic instructions for making living organisms. (godandscience.org)
  • While it is widely believed that disease onset requires an environmental trigger, most autoimmune conditions have a genetic component as well ( 6 ). (chriskresser.com)
  • Our method paves the way for the large-scale genetic analysis of contaminated human remains. (pnas.org)
  • Chromomeres and their associated loops on lampbrush chromosomes are not genetic units although in some special cases, they consist of specific families of repeated DNA sequences. (springer.com)
  • On the other hand, we have LBCs where there are apparent discrepancies with regard genetic equivalence, with just a hint of a constant pattern that may be complicated on lampbrush chromosomes by widespread transcription and by stretching as a result of the punishment they receive when being isolated by free hand dissection from the germinal vesicle. (springer.com)
  • For years, scientists have looked at human chromosomes, and the DNA they carried, poring over the genetic code that makes up every cell for clues about everything from our eye color to congenital diseases. (phys.org)
  • Understanding this movement better could have big implications for the study of genetic diseases, human health and gene editing. (phys.org)
  • Several laboratories focused their attention on rat models of genetic hypertension, which can be considered as a reductionist paradigm for human disease. (ahajournals.org)
  • Despite very significant recent progress in genomic and statistical tools, the genetic dissection of human essential hypertension still provides a major challenge. (ahajournals.org)
  • Human karyotype Genetic diseases composed of? (prezi.com)
  • Central dogma of molecular Duplication Transcription Translation Human Karyotype Genetic Most genetic disorders are quite rare and affect one person in every several thousands or millions. (prezi.com)
  • Definition A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. (prezi.com)
  • This included gene IGF 2 R on the long arm of chromosome 6, which may also be related to liver cancer . (wikipedia.org)
  • 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. (harvard.edu)
  • Chromosome 5q deletion syndrome is caused by the deletion of the q arm (long arm) of chromosome 5. (wikipedia.org)
  • These results have led us to conclude that the loss of sequences from the long arm of chromosome 6 is a nonrandom and possibly biologically relevant event in human malignant melanoma. (elsevier.com)
  • Millikin, D & Trent, J 1991, ' Loss of Heterozygosity for Loci on the Long Arm of Chromosome 6 in Human Malignant Melanoma ', Cancer Research , vol. 51, no. 20, pp. 5449-5453. (elsevier.com)
  • Isolation of a polymorphic genomic clone from chromosome 7. (biomedsearch.com)
  • Two genomic breakpoint events are highlighted between chromosomes 2 and 16. (plos.org)
  • This suggests an interchromosomal translocation between chromosomes 2 and 16 resulting in a loss of the genomic material between the translocation breakpoints. (plos.org)
  • To understand the dynamics of ENC formation and progression, we compared the ENC of macaque chromosome 4 with the human orthologous region, at 6q24.3, that conserves the ancestral genomic organization. (sciencemag.org)
  • Then, we characterized in detail a macaque ENC and compared it to the orthologous domain in humans, which represents the ancestral genomic structure before ENC seeding. (sciencemag.org)
  • Human descent with modification (human evolution) is going to stand or fall on the results of genomic Determining the order of nucleotides in a DNA or RNA molecule, or the order of amino acids in a protein molecule. (godandscience.org)
  • The work was carried out in the UK at the Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, which also carried out one-third of the human genome sequencing programme , and in the USA at The Institute for Genomic Research and Stanford University . (sanger.ac.uk)
  • Genomic contigs may be assembled into longer sequences called scaffolds and sometimes, if the depth of sequencing is high enough, there may be enough information to assemble most of the scaffolds into chromosomes. (vectorbase.org)
  • Although this approach has been extended to ancient material from a number of organisms, there is particular interest in genomic analyses of ancient human populations ( 2 ⇓ ⇓ ⇓ ⇓ ⇓ ⇓ - 9 ). (pnas.org)
  • Orthologous relationships of class II OR genes between mouse (Mm) and human (Hs) genomic clusters. (nih.gov)
  • OR gene genomic clusters are indicated by chromosome number and Giemsa-stained band number in each species. (nih.gov)
  • Individual genomic regions showed distinct configurations in relation to the chromosome 6 terrritory. (biologists.org)
  • We hypothesized that HERV elements throughout the genome can serve as substrates for genomic instability and result in human copy-number variation (CNV). (nih.gov)
  • Genomic amplification is observed in many, if not all, types of human malignancy and is one of the mechanisms for the activation of dominant-acting oncogenes in tumorigenesis. (aacrjournals.org)
  • Genomic amplification is commonly observed in many types of human malignancies, including esophageal adenocarcinoma. (aacrjournals.org)
  • In humans, genomic amplification is exclusively restricted to tumor cells and is a major mechanism for the activation of dominant-acting oncogenes during tumorigenesis. (aacrjournals.org)
  • Within the essential immune loci of the major histocompatibility complex, we find HLA-B to be the most polymorphic gene on chromosome 6 and in the human genome. (nih.gov)
  • In particular, " specific language impairment " is possibly related to a gene on chromosome 7 . (wikipedia.org)
  • Some studies suggest that loss of another nearby gene on chromosome 5, called NRG2 , increases the severity of the signs and symptoms. (medlineplus.gov)
  • Here, a translocation of a part of chromosome 4 with another part (t(4;14)(p16;q32) causes the fusion of WHSC1 with another gene on chromosome 14. (news-medical.net)
  • The translocation, which is written as t(4;14)(p16;q32), abnormally fuses the WHSC1 gene on chromosome 4 with part of another gene on chromosome 14. (nih.gov)
  • This deletion occurs in immature blood cells during a person's lifetime and affects one copy of chromosome 5 in each cell. (medlineplus.gov)
  • This disorder is characterized by an extra copy of chromosome 21 (trisomy)(Segal & Pesco, 2015). (bartleby.com)
  • Five patients with more than one informative locus had allele losses consistent with the loss of the entire long arm (or of an entire copy) of chromosome 6, while four other patients demonstrated terminal deletions of 6q. (elsevier.com)
  • Facioscapulohumeral muscular dystrophy can only occur in people who have at least one "permissive" copy of chromosome 4. (nih.gov)
  • Down's Syndrome is a disease in human caused by an extra copy of chromosome 21 (the syndrome is frequently referred to as Trisomy 21 for this reason). (wikibooks.org)
  • Humans have two copies of chromosome 1, as they do with all of the autosomes , which are the non- sex chromosomes . (wikipedia.org)
  • Genetically, it has been found that there are 22 pairs of autosomes and one pair of sex chromosomes, where X and Y are sex chromosomes representing female and male respectively. (bartleby.com)
  • For example, the human genome has approximately six billion base pairs (6 Gbp) in 46 chromosomes (22 paired autosomes + sex chromosomes). (scienceblogs.com)
  • In a human, the normal chromosomes complement is 46, 44 of which are autosomes while 2 distinct chromosomes are deemed sex chromosomes , which determine the sex of an organism and various sex linked characteristics. (biology-online.org)
  • In prokaryotes, or cells without a nucleus, the chromosome is merely a circle of DNA. (encyclopedia.com)
  • In eukaryotes, or cells with a distinct nucleus, chromosomes are much more complex in structure. (encyclopedia.com)
  • They are in the nucleus of every human cell. (abpischools.org.uk)
  • New findings by University of California, Berkeley, scientists show that the cell's cytoskeleton, which moves things around in the cell, plays a critical role, essentially reaching into the nucleus to bring chromosome pairs together in preparation for recombination and segregation. (healthcanal.com)
  • This simple model of a nucleus with only one pair of chromosomes illustrates the process of synapsis - the pairing of homologous chromosomes. (healthcanal.com)
  • The patches form a bridge between the chromosomes and the cytoskeleton outside the nucleus. (healthcanal.com)
  • sequence of the human All the DNA contained in an organism or a cell, which includes both the chromosomes within the nucleus and the DNA in mitochondria. (godandscience.org)
  • However, closer examination of the entire All the DNA contained within species of organisms, which includes both the chromosomes within the nucleus and the DNA in mitochondria. (godandscience.org)
  • It is written that if a cell is diploid, then it has 2 sets of chromosomes in the nucleus. (biology-online.org)
  • 1. Are these 46 chromosomes aware of the existence of a 'mate' wanderding around the nucleus? (biology-online.org)
  • Chromosomes are found in the nucleus of all body cells. (rarediseases.org)
  • To give a sense of perspective, there are 46 chromosomes in a human cell, which are packed into a nucleus millions of times smaller than the length of the chromosomes. (brighthub.com)
  • In order to pack large chromosomes into a small nucleus, an elaborate packing procedure is needed. (brighthub.com)
  • Spinocerebellar ataxia 1 (SCA1) is caused by expansion of an unstable CAG triplet repeat located on the short arm of chromosome 6. (biomedsearch.com)
  • Researchers have also defined regions of the short arm of chromosome 5 that are associated with particular features of cri-du-chat syndrome. (medlineplus.gov)
  • Wolf-Hirschhorn syndrome is caused by a deletion at the end of the short arm of chromosome 4 at point 16.3 (4p16.3). (news-medical.net)
  • Multicolor hybridization on rhesus macaque chromosomes [ Macaca mulatta (MMU) 2 n = 42, where n is the haploid number of chromosomes] of about 500 evenly spaced human bacterial artificial chromosome (BAC) clones revealed that seven macaque/human homologs (chromosomes 6/5, 8/8, 11/12, 17/13, 19/19, 20/16, and X/X, respectively) were colinear when the position of the centromere was excluded. (sciencemag.org)
  • The haploid human genome occupies a total of just over 3 billion DNA base pairs that means 6 billion base pairs per diploid cell. (edinformatics.com)
  • The Human Genome Project has revealed that there are probably about 20,000-25,000 'haploid' protein coding genes. (edinformatics.com)
  • For example, the haploid genome of the Japanese flowering plant Paris japonica contains about 50 times more DNA than the human haploid genome. (jove.com)
  • This is the means by which a human being produces haploid (containing only 23 chromosomes) sex cells, or gametes. (thefreelibrary.com)
  • The human genome contains approximately 3 billion base pairs (bps) of DNA, which are organized in 23 chromosomes. (frontiersin.org)
  • Most cells in the human body contain about 6 billion base pairs of DNA packaged into 23 pairs of chromosomes. (jove.com)
  • However, the DNA of E. coli, a bacterium has 4 million base pairs and the human genome contains 6 billion base pairs. (brighthub.com)
  • When cell division occurs during reproduction, the chromatin forms with the DNA into a chromosome. (reference.com)
  • Finally, additional fiber's proteins compact the chromatin even further allowing such long lengths of DNA in to such tightly condensed units, recognized as chromosomes depending on the phase of cell division. (jove.com)
  • Additional fibrous proteins further compact the chromatin, which is recognizable as chromosomes during certain phases of cell division. (jove.com)
  • Modern molecular studies have provided evidence that the chromatin of lampbrush chromomeres differs in several important respects from that of condensed metaphase chromosomes. (springer.com)
  • The large-scale chromatin organization of the major histocompatibility complex and other regions of chromosome 6 was studied by three-dimensional image analysis in human cell types with major differences in transcriptional activity. (biologists.org)
  • Large chromatin loops containing several megabases of DNA were observed extending outwards from the surface of the domain defined by the specific chromosome 6 paint. (biologists.org)
  • While the chromosomes are often equated with DNA, there is actually around twice as much protein as DNA in chromatin, as well as typically around 10 percent by mass of RNA-mostly as nascent transcribed chains. (philipball.co.uk)
  • As part of an effort to examine the chromosomal organization of cellular genes encoding transcription factors, we report the mapping of the gene encoding AP-2 to human chromosome 6p22.3-24 by analysis of somatic cell hybrids and in situ hybridization to chromosomes. (nih.gov)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 6. (medlineplus.gov)
  • 5q31.3 microdeletion syndrome is caused by a chromosomal change in which a small piece of chromosome 5 is deleted in each cell. (medlineplus.gov)
  • Another example of a chromosomal abnormality is Turner syndrome (the presence of only a single X chromosome in women instead of the usual two) [3] Edwards syndrome is trisomy 18, and Patua syndrome is a result of trisomy 13. (wikibooks.org)
  • This information promises to revolutionize the processes of finding chromosomal locations for disease-associated sequences and tracing human history. (edinformatics.com)
  • Chromosome 6, Partial Trisomy 6q is an extremely rare chromosomal disorder in which a portion of the 6th chromosome (6q) is present three times (trisomy) rather than twice in cells of the body. (rarediseases.org)
  • What is the chromosomal make-up of humans? (brainscape.com)
  • STS-amplification mapping was applied to the DNA from 75 normal-tumor paired esophageal samples using STS markers in the chromosomal vicinity of the three cloned restriction fragments to define the frequency and extent of amplification. (aacrjournals.org)
  • 6 7 Two further mendelian forms of hypertension, Gordon's syndrome and hypertension plus brachydactyly, have been mapped to defined chromosomal regions, 8 9 but their respective causal genes still await identification. (ahajournals.org)
  • Chromosome 1 spans about 249 million nucleotide base pairs , which are the basic units of information for DNA . (wikipedia.org)
  • Chromosome 6 spans about 171 million DNA building blocks (base pairs) and represents between 5.5 and 6 percent of the total DNA in cells. (medlineplus.gov)
  • Chromosome 4 spans about 191 million base pairs, the building blocks of DNA, which are tightly packed and supercoiled to form the DNA's helical structure. (news-medical.net)
  • Chromosome 6 spans more than 170 million base pairs (the building material of DNA) and represents between 5.5 and 6% of the total DNA in cells. (wikipedia.org)
  • Our approach spans the earth-based scientific to the farthest realms of consciousness explorations - this work, which we have spent our lifetime crafting and developing is a synergy and a blending of many different teachings, philosophies and theories in the multi-faceted realms of the unfolding Human Potential. (visionarymusic.com)
  • Each diploid cell with 46 chromosomes contains 6 billion bps of DNA. (frontiersin.org)
  • Today we know that a chromosome contains a single molecule of DNA along with several kinds of proteins. (encyclopedia.com)
  • Chromosome 6 likely contains 1,000 to 1,100 genes that provide instructions for making proteins. (medlineplus.gov)
  • Surprisingly, this multicopy family contained a unique proviral locus, located on chromosome 7, flanked by two intact LTRs, and which retained a 538-aa envelope ORF that exhibited all of the characteristic features of the precursor polypeptide of classical retroviral envelope proteins ( 1 , 3 ). (pnas.org)
  • Chromosome 5 likely contains about 900 genes that provide instructions for making proteins. (medlineplus.gov)
  • During interphase, the genes carried on the chromosomes are transcribed , to form proteins needed by the cell. (encyclopedia.com)
  • Various proteins act to stabilize DNA in interphase, while additional proteins are required to condense the chromosomes over a thousandfold to form the compact chromosomes required for mitosis and cell division. (encyclopedia.com)
  • To put it very simply, specific DNA sequences send messages to proteins with instructions on a task to perform, such as "make a human fingernail. (dnacenter.com)
  • The human leukocyte antigen lies on chromosome 6, with the exception of the gene for β2-microglobulin (which is located on chromosome 15), and encodes cell-surface antigen-presenting proteins among other functions. (wikipedia.org)
  • In 2003, the entirety of chromosome 6 was manually annotated for proteins, resulting in the identification of 1,557 genes, and 633 pseudogenes. (wikipedia.org)
  • Chromosome motion can be directly observed by microscopic imaging of worms expressing fluorescent fusion proteins. (healthcanal.com)
  • In early meiosis, the chromosomes attach by their pairing centers to proteins on the nuclear envelope, which are linked to the cytoskeleton of the cell. (healthcanal.com)
  • It is present in the milk of humans and other mammals, in the blood plasma and neutrophils and is one of the major proteins of virtually all exocrine secretions of mammals, such as saliva, bile, tears and pancreas. (wikipedia.org)
  • In a chromosome, the DNA is tightly packed together with histone proteins. (reference.com)
  • Humans though have on average three times as many kinds of proteins as the fly or worm because of mRNA transcript "alternative splicing" and chemical modifications to the proteins. (edinformatics.com)
  • To stay alive and functioning, the human body requires a daily crop of billions of fresh protein molecules - about 50,000 different kinds of proteins that must be supplied in the right quantities, at the right times, and in the right places. (accessexcellence.org)
  • A karyotype a complete set of chromosomes of a particular species. (wikibooks.org)
  • The latter is what determines whether a developing embryo develops as a physiological male or female, with a male karyotype displaying the diminutive Y chromosome beside its larger X chromosome partner (women have two X chromosomes in their karyotype). (wikibooks.org)
  • A karyotype is generally an image of a completed and arranged set of chromosomes as viewed through a light microscope. (wikibooks.org)
  • Down's syndrome is easily identified via a karyotype by the obvious extra chromosome present in the image. (wikibooks.org)
  • Loosely arranged strands of chromosomes become coiled, shortened and distinct during the prophase. (syvum.com)
  • 1. Prophase I--homologous chromosomes (each is composed of 2 chromatids) come together as pairs, a complex of 4 chromosomes known as a tetrad. (thefreelibrary.com)
  • The terms chromosome and gene were used long before biologists really understood what these structures were. (encyclopedia.com)
  • The Watson and Crick discovery made it possible to express biological concepts (such as the gene) and structures (such as the chromosome) in concrete chemical terms. (encyclopedia.com)
  • Genes are grouped along rod-like structures called chromosomes. (bartleby.com)
  • Genes are individual segments of DNA and chromosomes are structures which contain many genes packed together. (reference.com)
  • The history of studies on the chromomeres of lampbrush chromosomes is outlined and evidence for the nature and function of these structures is collected and summarised. (springer.com)
  • Their structures are maintained by the glassiness of the chromosome. (phys.org)
  • All DNA is stored in each cell in structures we call chromosomes. (prezi.com)
  • The PDGFRA gene is found on chromosome 4. (news-medical.net)
  • Genes found on chromosome 5 are associated with some forms of leukemia, Parkinson's disease and aspects of male infertility. (phys.org)
  • At the end of each chromosome is a string of repeating DNA sequences called a telomere. (answersingenesis.org)
  • There are differences in amino acid sequences: 8 in Homo sapiens, 6 in Mus musculus, 6 in Capra hircus, 10 in Bos taurus and 20 in Sus scrofa. (wikipedia.org)
  • sequences would provide the answer to the question of why humans are so different from their closest living ancestors. (godandscience.org)
  • One of the main impediments for obtaining DNA sequences from ancient human skeletons is the presence of contaminating modern human DNA molecules in many fossil samples and laboratory reagents. (pnas.org)
  • Examples of binary mosaics of long nucleotide sequences are shown, including cases of human chromosomes and penicillins. (mdpi.com)
  • it is because there is 'something' in the DNA sequences of the 2 chromosomes that directs (your word)/propels/draws/attracts the two (homologous) chromosomes (each with their 2 chromatids) towards one-another? (biology-online.org)
  • 1996 ). Evolutionary dynamics of non-coding sequences within the class II region of the human MHC. (biologists.org)
  • Chromosome 19 was determined to have the largest fraction of reference sequences within susceptibility regions as a percentage of chromosome length (Figure 2). (nih.gov)
  • 2009). They looked at the sequences of Y chromosomes from two men separated by 13 generations. (blogspot.com)
  • The closest human relative, the chimpanzee, has near-identical DNA sequences to human chromosome 2, but they are found in two separate chromosomes. (gesund-im-net.de)
  • These are normally found only at the ends of a chromosome, but in chromosome 2 there are additional telomere sequences in the middle. (gesund-im-net.de)
  • The finished sequence comprises 166,880,988 base pairs, representing the largest chromosome sequenced so far. (nih.gov)
  • Huntington's Corea is used to discuss the use of a particular sequence on Chromosome Four to cause traumatic health consequences. (wikipedia.org)
  • We molecularly characterized the human endogenous retrovirus W family (HERV-W) family ( 1 ) by screening a placental cDNA library with a polymerase (pol) probe derived from a retroviral sequence named multiple-sclerosis associated retrovirus (MSRV) ( 2 ) isolated from biological samples from multiple sclerosis patients. (pnas.org)
  • Most people with 5q- syndrome are missing a sequence of about 1.5 million DNA base pairs, also written as 1.5 megabases (Mb). (medlineplus.gov)
  • In oxen, the coding sequence consists of 17 exons and has a length of about 34,500 nucleotide pairs. (wikipedia.org)
  • Encoded in the DNA sequence are fundamental determinants of those mental capacities- learning, language, memory essential to human culture. (nap.edu)
  • Unprecedented advances in molecular and cellular biology, in bio- chemistry, in genetics, and in structural biology-occurring at an accelerating rate over the past decade define this as a unique and opportune moment in our history: For the first time we can envision obtaining easy access to the complete sequence of the 3 billion nucleotides in human DNA and deciphering much of the information contained therein. (nap.edu)
  • Some copies of chromosome 4 have a functional pLAM sequence, while others do not. (nih.gov)
  • Copies of chromosome 4 with a functional pLAM sequence are described as 4qA or "permissive. (nih.gov)
  • The completed human sequence can now identify their locations. (edinformatics.com)
  • We apply this approach to a contaminated Neandertal specimen from Okladnikov Cave in Siberia to isolate its endogenous DNA from modern human contaminants and show that the reconstructed mitochondrial genome sequence is more closely related to the variation of Western Neandertals than what was discernible from previous analyses. (pnas.org)
  • 4. the pairing is directed by DNA sequence. (biology-online.org)
  • Using the sequence tagged site-amplification mapping approach, we defined the core-amplified domain by screening 75 normal-tumor paired esophageal samples. (aacrjournals.org)
  • On the 5'-3' strand of the DNA, an enzyme called DNA polymerase slides towards the replication fork and uses the sequence of nitrogenous bases on that strand to make a new strand of DNA complementary to it (this means that its bases pair with the ones on the old strand). (visiblebody.com)
  • The complexity of the organism usually predicts the number of genes and chromosomes. (reference.com)
  • So when the organism has an XY chromosome compliment (i.e. a male), these sex linked genes are freely expressed in the organisms phenotype , an example being hairy ears developing in old age. (biology-online.org)
  • Human and Chimpanzee Karyotypes packet (four figures: 2a-2d) on 4 pages. (indiana.edu)
  • 5 In other words, the genes and markers on these chromosomes are not in the same order in the human and chimpanzee. (answersingenesis.org)
  • The Y chromosome in particular is of a different size and has many markers that do not line up between the human and chimpanzee. (answersingenesis.org)
  • Scientists have prepared a human-chimpanzee comparative clone map of chromosome 21 in particular. (answersingenesis.org)
  • Y chromosome (MSY) for the Two living species of ape in the genus Pan, including Pan troglodytes, the Common Chimpanzee, and Pan paniscust, also known as Bonobo or Pygmy Chimpanzee. (godandscience.org)
  • These two kinds of chromosome pairs are normally made up 46 chromosomes in total while children with Down syndrome have 47 chromosomes, meaning they have one extra chromosome on the chromosome 21. (bartleby.com)
  • In Jul 1958, while examining the chromosomes of a so-called "Mongol" child, Lejeune discovered the existence of an extra chromosome on the 21st pair. (todayinsci.com)
  • In a translocation, a piece of one chromosome becomes attached to a different chromosome. (cancer.org)
  • A specific translocation involving chromosome 4 and chromosome 14 is commonly found in multiple myeloma, which is a cancer that starts in cells of the bone marrow. (nih.gov)
  • In most cases, Chromosome 6, Partial Trisomy 6q has been the result of a balanced translocation in one of the parents. (rarediseases.org)
  • The human AGER (RAGE) gene lies within the major histocompatibility complex class III region on chromosome 6, which contains genes involved in immune responses, such as TNFalpha , lymphotoxin , complement components and homeobox gene HOX12 . (atlasgeneticsoncology.org)
  • One was in the human leukocyte antigen (HLA) region on chromosome 6 (lowest p value = 1.8 × 10 -23 for rs9264638). (elsevier.com)
  • after DNA replication, chromosomes become what? (getrevising.co.uk)
  • In a computer model, one chromosome starts out looking like an unrolled ball of yarn following replication. (phys.org)
  • On the 3'-5' strand, multiple DNA polymerases match up base pairs in partial segments, moving away from the replication fork. (visiblebody.com)
  • Chromosomes X and Y do not truly make up a homologous pair. (biology-online.org)
  • Yes, there is a realtion between homologous pairs and 2n - there are 2 chromosomes(a homologous pair) for each one of the n. (biology-online.org)
  • [5] It represents about 8% of the total DNA in human cells. (wikipedia.org)
  • Scientists at Johns Hopkins say they have found that people born with abnormally short chromosome endcaps, or telomeres, have immune system cells that age and die prematurely. (news-medical.net)
  • Chromosomes, each containing hundreds or thousands of genes, act like a detailed instruction manual for how cells should develop and behave. (news-medical.net)
  • In some WM cells, a piece of a chromosome is missing. (cancer.org)
  • Most cells have 23 pairs of chromosomes, for a total of 46. (kidshealth.org)
  • Such a hypothesis was supported by the observations that an anti-Env-W polyclonal antibody was able to inhibit heterologous fusion between a BeWo cell line and COS reporter cells ( 4 ) and that anti-ERVWE1 antisens oligonucleotides were able to inhibit primary human trophoblast cell fusion and differentiation ( 8 ). (pnas.org)
  • The Effect of DR circulatory microRNAs on VEGF secretion in human retinal pigment epithelial cells. (arvojournals.org)
  • Since the binding of DNA by histones interferes with this access, cells have evolved specific mechanism to destabilize nucleosomes in chromosome regions that must be transcribed. (encyclopedia.com)
  • The movement is very obvious in the cells on the right side of this frame, which are actively pairing and synapsing their chromosomes, while the motion has slowed in the later-stage cells to the left, which have completed pairing and synapsis. (healthcanal.com)
  • The whole goal of the cell at this developmental stage is to pair up homologous chromosomes, to reinforce that pairing through formation of the synaptonemal complex, to make crossovers between homologs, and then to separate the pairs into different daughter cells," said Dernburg, who is also a researcher at Lawrence Berkeley National Laboratory (LBNL) and a faculty affiliate of the California Institute for Quantitative Biosciences (QB3). (healthcanal.com)
  • The cells with only red staining have not yet entered meiosis, while the cells stained both red and green have begun or completed chromosome pairing and synapsis. (healthcanal.com)
  • G6PD deficiency is the lack of glucose-6-phosphate dehydrogenase (an enzyme present in red blood cells) in the blood, which can cause a type of anemia known as hemolytic anemia. (nyhq.org)
  • Introduction All living organisms are composed of cells, each no wider than a human hair. (nap.edu)
  • Each of our cells contains the same complement of DNA constituting the human genome (Figure 1-1. (nap.edu)
  • An image of the dividing cells is taken when the chromosomes are all visible, and the individual chromosomes are cut out of the picture and rearranged on a separate medium based on size. (wikibooks.org)
  • Where needed, I'm using human cells for dicussion. (biology-online.org)
  • the spermatogonia divide to form sperm cells, and 23 of your 46 chromosomes are randomly selected to get into each sperm. (biology-online.org)
  • In individuals with Chromosome 6, Partial Trisomy 6q, all or a portion of the end (distal) region of the long arm (q) of chromosome 6 is present three times (trisomy) rather than twice in cells of the body. (rarediseases.org)
  • If you were to unravel the DNA packed into all 23 pairs of chromosomes in just one of the of your cells, how long would that stretch of DNA be? (epicofevolution.com)
  • We have previously shown by chromosome transfer technique that chromosome 6 alters the phenotype of a variety of tumour cells and SV40 immortalized cells. (nih.gov)
  • Similar effects were also seen on cloning efficiency and anchorage-independent growth of cells expressing RNaseT2 (Figs 6 and 7). (nih.gov)
  • In a new study, however, scientists have demonstrated the movement of chromosomes within cells also may play a role in human traits and health. (phys.org)
  • For every gene to be expressed in human cells, the distant regions of the chromosome must come into contact. (phys.org)
  • The researchers hope to continue studying the dynamics of different types of chromosomes and exploring whether abnormal cells, like cancer cells , have different dynamics. (phys.org)
  • In this particular experiment, the Y chromosomes were extracted from cells in culture. (blogspot.com)
  • To duplicate all this information stored in the chromosomes and to make it usefull cells use a process we call central dogma. (prezi.com)
  • Homologous chromosomes carry the same set of genes , and recombine with each other during meiosis . (bmj.com)
  • In fact, the cytoskeleton appears to encourage the dance of the chromosomes around the nuclear membrane as they search for their partners, and help make sure they have the right partner before meiosis continues. (healthcanal.com)
  • Errors during meiosis lead to age-related human infertility, and to birth defects such as Down syndrome and Klinefelter syndrome," said Abby Dernburg, UC Berkeley associate professor of molecular and cell biology and a Howard Hughes Medical Institute investigator. (healthcanal.com)
  • If there is a mistake during meiosis, a chromosome pair might fail to properly separate and distribute into each forming cell, and a gamete might be left with two copies of a gene instead of one. (wikibooks.org)
  • 7. During which stage of mitosis do chromatids separate to form two sets of daughter chromosomes? (syvum.com)
  • 13. During which stage of mitosis does longitudinal splitting of the chromosomes occur? (syvum.com)
  • 16. During mitosis, loosely arranged strands of chromosomes become coiled, shortened and distinct during the metaphase. (syvum.com)
  • During the portion of mitosis known as metaphase , spindle fibers (which attach to the centromeres) jostle the chromatid pairs to the middle of the cell. (encyclopedia.com)
  • A picture of chromosomes taken during mitosis and cut out and arranged into homologous pairs. (slideserve.com)
  • During mitosis, DNA is packaged into chromosomes. (brainscape.com)
  • Changes to chromosome 5 include an extra segment of the short (p) or long (q) arm of the chromosome in each cell (partial trisomy 5p or 5q), a missing segment of the long arm of the chromosome in each cell (partial monosomy 5q), and a circular structure called ring chromosome 5. (wikipedia.org)
  • Down syndrome is also called 21 trisomy, which is obviously pointed out the disorder occurs at the chromosome 21. (bartleby.com)
  • As noted above, the symptoms and physical findings associated with Chromosome 6, Trisomy 6q may be variable. (rarediseases.org)
  • Many individuals with Chromosome 6, Partial Trisomy 6q also have distinctive abnormalities of the neck. (rarediseases.org)
  • In rare cases, individuals with Chromosome 6, Partial Trisomy 6q may also have various internal organ malformations. (rarediseases.org)
  • During the anaphase, the chromosomes divide at the centromere and start moving towards opposite poles. (syvum.com)
  • During M phase, each chromosome is duplicated, and each replica remains attached to its original at the centromere portion of the chromosome. (encyclopedia.com)
  • the centrioles move to the poles, chromosomes move to equator, centrioles form mitotic spindles by shooting microtubrials and connecting to centromere. (getrevising.co.uk)
  • Normally a chromosome has just one centromere, but in chromosome 2 there are remnants of a second centromere. (gesund-im-net.de)
  • Chromosome 3q arm gain linked to immunotherapy response in advanced cutaneous squamous cell carcinoma. (harvard.edu)
  • Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)
  • In each human cell, the DNA is packaged in 23 pairs of chromosomes. (cancer.org)
  • There are 23 pairs of chromosomes in each human cell. (syvum.com)
  • each cell in the body contains about 6 feet of DNA thread. (kidshealth.org)
  • If all the DNA in a single human cell were stretched out straight and the strands representing all the chromosomes laid end-to-end, they would extend for well over 1 meter (3 feet). (encyclopedia.com)
  • Each and every human cell may contain 10,000 genes made up of DNA, and if you unwound and tied together all the DNA in that cell, it would stretch 6 feet . (dnacenter.com)
  • Typically, human beings have 23 pairs of chromosomes in each cell. (dnacenter.com)
  • Because chromosome 5 is responsible for many forms of growth and development (cell divisions) changes may cause cancers. (wikipedia.org)
  • It is estimated that anywhere from 50 000 to 100 000 genes are contained in the 46 chromosomes present in each human cell. (aappublications.org)
  • Because there are two copies of chromosome 4 in each cell, individuals may have two "permissive" copies of chromosome 4, two "non-permissive" copies, or one of each. (nih.gov)
  • The egg gamete mother cell is said to be homogametic , because all its cell possess the XX sex chromosomes. (biology-online.org)
  • Knowledge of the meiotic phase of the cell life cycle is important in understanding the radiosensitivity of the human oocyte. (thefreelibrary.com)
  • Chromosome 6 encoded RNaseT2 protein is a cell growth regulator. (nih.gov)
  • We present here the phenotypic effects of the ectopic expression of RNaseT2, a highly conserved ribonuclease encoded by chromosome 6q27, in SV40 immortalized cell lines. (nih.gov)
  • In the model, it was clear that the movement of each chromosome changed, depending on the cell. (phys.org)
  • For example, chromosome 5 in one cell could move very differently, more slowly perhaps, than in another cell. (phys.org)
  • Considering the difficulties involved - the 6 feet of DNA in a human cell consists of 6 billion subunits, or base pairs, coiled and tightly packed into 46 chromosomes, all of which must be duplicated every time a cell divides - our general state of health is something of a miracle. (accessexcellence.org)
  • How many base pairs of DNA do humans have in each somatic cell of our bodies? (brainscape.com)
  • Did you know that in the average human cell, there is about 2m (6ft) of DNA? (visiblebody.com)
  • There are 46 separate strings of DNA in each somatic cell of the human body. (visiblebody.com)
  • Sequencing means figuring out the exact order of base pairs in a segment of DNA. (kidshealth.org)
  • The size of the deletion can range from several thousand to several million DNA building blocks (base pairs). (medlineplus.gov)
  • they exclusively pair as A to T and C to G, and are known as base pairs . (dnacenter.com)
  • A strand of DNA actually looks like a twisting ladder, with the base pairs forming the rungs or steps, and the sugar and phosphate molecules creating the sidepieces of the ladder or railings of the staircase. (dnacenter.com)
  • A chromosome consists of millions of base pairs, some of which are called genes. (bartleby.com)
  • In humans, a single gene may be on average around 10 to 50 thousand base pairs long. (bartleby.com)
  • Chimpanzees and other apes have about 23 kilobases (a kilobase is 1,000 base pairs of DNA) of repeats. (answersingenesis.org)
  • 1000 base pairs long. (answersingenesis.org)
  • Surprisingly, the indels added an additional 3.4 % of base pairs that were different. (answersingenesis.org)
  • Briefly, if a 500 million base pair genome is sequenced to a 10x coverage, 20,000 bases will be missed. (scienceblogs.com)
  • Between the breakpoints on each chromosome (chr2:56792000-56953300 and chr16:8826200-8826700), base coverage drops to about half of what it is on the other side of the event, from two to one copy. (plos.org)
  • chromosomes are distinguished by their length (from 48 to 257 million base pairs) and by their banding pattern when stained with appropriate methods. (bmj.com)
  • The D4Z4 region consists of 11 to more than 100 repeated segments, each of which is about 3,300 DNA base pairs (3.3 kb) long. (nih.gov)
  • The Plasmodium falciparum genome, which consists of 24 million base pairs of DNA is divided into 14 chromosomes- compared to 23 in the human genome. (sanger.ac.uk)
  • The base pairs length on pages such as the whole genome display (next to the golden path length ) is based on the assembled end position of the last seq_region in each chromosome (from the AGP file), or if there is a terminal gap it is set to the assembled end location of that terminal gap. (vectorbase.org)
  • Scientists have identified about 1.4 million locations where single-base DNA differences (SNPs) occur in humans. (edinformatics.com)
  • At 2.7 million base pairs in length, the dystrophin gene on the humanX chromosome is the largest disease-related gene known in man. (bioworld.com)
  • In 1989, Davies and her co-authors discovered a one-million-base-pair gene on human chromosome 6, and named it "utrophin. (bioworld.com)
  • The DNA of a virus may be as small as a few thousand base pairs. (brighthub.com)
  • In a paper just published in Nature Communications , scientists at The University of Texas at Austin have mapped the movement of a chromosome, using computer modeling to show how billions of base pairs of DNA get packed into an impossibly small space without getting tangled. (phys.org)
  • The DNA in the two BRCA genes, like that in other human genes, is a double helical molecule, each side of which is joined, like the rungs of a ladder, by two complementary chemicals called base pairs-adenine, which always links to thymine, and cytosine, which always links to guanine. (nybooks.com)
  • If we want to know how DNA really functions, it is not enough to zoom in to the molecular level with its beautifully simple staircase of base pairs. (philipball.co.uk)
  • Generally there is some degree of underwinding-negative supercoiling-such that there is one negative supercoil for every 200 base pairs (bp) or so. (philipball.co.uk)
  • Stretched into a linear double helix, the four billion or so base pairs of human DNA would measure 1.8 m. (philipball.co.uk)
  • However, the limit of congenic strategy is estimated at 1 cM, which corresponds to 2×10 6 base pairs of DNA and ≈50 candidate genes. (ahajournals.org)
  • HLA-DP$1 has been expanded to show the coding region (exons 1 - 6 and their relative size in base pairs). (cdc.gov)
  • 1 These are neutral mutations and the rate works out to 3.0 × 10 -8 mutations per base pair per generation. (blogspot.com)
  • requires the egg and the sperm to join and produce a ______________ (fertilized egg) that contains 46 chromosomes (two sets) or _____________________ (2n). (slideserve.com)
  • Called the synaptonemal complex, this zipper seems necessary to allow the homologues to break and recombine, thereby exchanging a set of genes between Mom and Dad before sending the chromosomes into the world aboard egg or sperm. (healthcanal.com)
  • In humans, both sperm and eggs have one set of chromosomes, 23 in number. (wikibooks.org)
  • A humans' sex is predetermined in the sperm gamete . (biology-online.org)
  • sperm gametes are deemed heterogametic because around half of them contain the X chromosome and others possess the Y chromosome to compliment the first X chromosome. (biology-online.org)
  • In contrast to the frequency of 6q loss, LOH was observed at loci on four other chromosomes (1, 11, 16, 17) in only 5% of cases. (elsevier.com)
  • In organisms such as viruses and eukaryotes in which recombination within chromosomes or genome segments occurs primarily via crossovers, these recombination fractions vary hugely among different pairs of loci. (genetics.org)
  • Less is known about viral recombination rates, but Neher and Leitner (2010) estimate that in human immunodeficiency virus (HIV) recombination rates among loci vary by a factor of ∼10 3 over the genome. (genetics.org)
  • The main figure shows the displacement field of chromosome loci. (phys.org)
  • Human beings have 46 chromosomes, 22 pairs of autosomal chromosomes and one pair of sex chromosomes. (wikibooks.org)
  • The number and appearance of chromosomes can very dramatically between different organisms. (wikibooks.org)
  • Surprisingly, the number of human genes seems to be less than a factor of two greater than that of many much simpler organisms, such as the roundworm and the fruit fly -- see table showing number of genes for different organisms. (edinformatics.com)
  • 6q24-related transient neonatal diabetes mellitus, a type of diabetes that occurs in infants, is caused by the overactivity (overexpression) of certain genes in a region of the long (q) arm of chromosome 6 called 6q24. (medlineplus.gov)
  • The result is a common abnormality known as aneuploidy, which occurs in as many as 80 percent of human embryos. (news-medical.net)
  • During the anaphase, longitudinal splitting of the chromosomes occurs. (syvum.com)
  • The deletion occurs on the long (q) arm of the chromosome at a position designated q31.3. (medlineplus.gov)
  • A ring chromosome occurs when both ends of a broken chromosome are reunited. (wikipedia.org)
  • 3. If the sister chromatids are pictured in an 'X' formation, is it reasonable to think of a chromosome as a stick figure? (biology-online.org)
  • 4. How do the homologous sister chromatids pair up? (biology-online.org)
  • When DNA gets replicated, each chromosome doubles its DNA quantity, resulting in a 'X' shaped chromosome made out of two sister chromatids. (biology-online.org)
  • Thus each pair of homologous chromosomes have a total of 4 sister chromatids, 2 on each of the homologous chromosomes. (biology-online.org)
  • Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction ). (wikipedia.org)
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
  • The team chose to look at chromosomes 5 and 10, mapping how each moved. (phys.org)
  • Of those pairs, 22 look the same for both males and females. (dnacenter.com)
  • In humans, as in all other mammals, embryos carrying XX sex chromosomes develop as females, whereas XY embryos develop as males. (bmj.com)
  • the last pair determines gender: females have two X chromosomes, while males have one X and one Y chromosome. (nyhq.org)
  • G6PD deficiency is inherited from females who carry one copy of the gene on one of their X chromosomes. (nyhq.org)
  • Y chromosome evolved from the One of the two sex chromosomes, carried by males (1 copy) and females (2 copies) in mammals. (godandscience.org)
  • Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. (rarediseases.org)
  • Because females inherit an X chromosome from their fathers, female offspring of affected fathers are never affected. (prezi.com)
  • DNA dating: How molecular clocks are refining human evolution's timeline by Bridget Alex and Priya Moorjani, The Conversation , 7 April 2017. (isogg.org)
  • Human Genetics , published online 28 April 2017. (isogg.org)
  • The most common chromosome defect seen in WM is a deletion of part of chromosome 6. (cancer.org)
  • Deletion of a region of DNA from the long (q) arm of chromosome 5 is involved in a condition called 5q minus (5q-) syndrome. (medlineplus.gov)
  • Cri-du-chat (cat's cry) syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. (medlineplus.gov)
  • Deletion of a part of chromosome 4 resulting in the fusion of PDGFRA and FIP1L1 (nearby) creates the FIP1L1-PDGFRA-fusion gene. (news-medical.net)
  • Familial Adenomatous Polyposis is caused by a deletion of the APC tumor suppressor gene on the long (q) arm of chromosome 5. (wikipedia.org)
  • Ridley discusses the history of human kind as a genetically distinct species. (wikipedia.org)
  • When merged with the worldwide Human Genome Diversity Project dataset, PCA shows the AJ are distinct from all other groups, including both European and Middle-Eastern populations. (blogspot.com)
  • Thirumalai, along with Guang Shi, lead author and graduate student at the University of Maryland, looked at how two distinct chromosomes move. (phys.org)
  • Contain distinct DNA (containing 37 known genes) not associated with chromosomes. (brainscape.com)
  • During the metaphase, the spindle apparatus becomes well-defined and the chromosomes get arranged at the equatorial plate. (syvum.com)
  • for example, in the condensation of chromosomes at metaphase. (encyclopedia.com)
  • It is in a highly dynamic state that facilitates localised transcription whilst keeping the chromosome safe from structural changes that might impede its orderly progression up to and through meiotic metaphase 1. (springer.com)
  • Deletions, insertions and mutations of stop codons affect the coding part and its length varies between 2,055 and 2,190 nucleotide pairs. (wikipedia.org)
  • DNA for each species is unique, which is why humans only create other humans, kangaroos make other kangaroos, and daisies produce only other daisies and not tulips. (dnacenter.com)
  • You can't identify a species just by its number of chromosomes , and it's not the number that matters, as much as the information contained on those chromosomes. (dnacenter.com)
  • spireme threads which in some sense or other are serial aggregates which have a perfectly definite organisation and one that differs specifically from chromosome to chromosome and from species to species. (springer.com)
  • Fig. 1 ), focussing specifically on lampbrush bivalents, reported that "…… chromomeric patterns are rarely identical in the two homologues ", which was surprising and somewhat perplexing at the time, in view of the strikingly regular species specificity of chromomeric (=band) pattern in polytene chromosomes from dipteran flies. (springer.com)
  • Human species has in total 46 chromosomes, which are grouped into 23 pairs, each pair consisting of one chromosome from our mother and one from our father. (prezi.com)
  • 2. During Interphase, each of the 46 chromosomes replicates its DNA. (biology-online.org)
  • 1994 ). Visualization of G1 chromosomes: A folded, twisted, supercoiled chromonema model of interphase chromatid structure. (biologists.org)
  • The landscape of BCR-ABL mutations in patients with Philadelphia chromosome-positive leukaemias in the era of second-generation tyrosine kinase inhibitors. (harvard.edu)
  • As a consequence, contractions of the D4Z4 region can lead to FSHD1, whereas mutations to SMCHD1 (chromosome 18) mutations causing hypomethylation of D4Z4 lead to FSHD2. (news-medical.net)
  • Encoded there as well are the mutations and variations that cause or increase susceptibility to many diseases responsible for much human suffering. (nap.edu)
  • Under the classical model for the evolution of duplicate genes, one member of the duplicated pair usually degenerates within a few million years by accumulating deleterious mutations, while the other duplicate retains the original function. (genetics.org)
  • The Y chromosomes differed by four mutations in 10.15 × 10 6 bp. (blogspot.com)
  • X-linked dominant disorders are caused by mutations in genes on the X chromosome. (prezi.com)
  • Exceptions to this finding are extremely rare cases in which boys with Klinefelter syndrome (47,XXY) also inherit an X-linked dominant condition and exhibit symptoms more similar to those of a female in terms of disease severity RECEssIVE X-linked recessive conditions are also caused by mutations in genes on the X chromosome. (prezi.com)
  • Y linked Y-linked disorders are caused by mutations on the Y chromosome. (prezi.com)
  • sequencing the male-specific region of the One of the two sex chromosomes that determines maleness in mammals, carried and passed down from males to males. (godandscience.org)
  • Because males inherit a Y chromosome from their fathers, every son of an affected father will be affected. (prezi.com)
  • Chromosomes, Human, Pair 3" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
  • Human genes are transcribed as messenger RNA precursor molecules (pre-mRNAs), which are composed of short exons separated by much longer introns. (biomedcentral.com)
  • Two copies of chromosome 6, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
  • In paternal UPD, people inherit both copies of the affected chromosome from their father instead of one copy from each parent. (medlineplus.gov)
  • People normally have two copies of this chromosome. (wikipedia.org)
  • Each gene is composed of 2 alternative copies known as alleles, one originating from the maternally derived chromosome and the other originating from the paternally derived chromosome of each chromosome pair. (aappublications.org)
  • So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (wikipedia.org)
  • Here, chromosome attachment sites at the nuclear envelope are marked by green fluorescent protein (GFP), while the chromosomes themselves are labeled with a red fluorescent protein. (healthcanal.com)
  • Once the chromosomes come together, a protein called dynein assesses whether or not the chromosomes are homologous and, if yes, allows formation of a zipper-like synptonemal complex between the two. (healthcanal.com)
  • To stabilize the chromosome pairs, protein links form along the length of the homologs, like a zipper. (healthcanal.com)
  • Even after culturing for 6 months, five clones of CSG2/RNaseT2 and six clones of CRL-9609/RNaseT2 showed expression of RNaseT2 protein. (nih.gov)
  • Supported by venture capital and both funds and collaborators from the National Institutes of Health, Skolnick and his colleagues won the race in 1994, finding BRCA 1 and isolating it from the rest of the DNA and the tangle of protein that form chromosome 17. (nybooks.com)
  • These sex linked genes on the X chromosome display a number of characteristics. (biology-online.org)
  • A single molecule of DNA within a chromosome may be as long as 8.5 centimeters (3.3 inches). (encyclopedia.com)
  • To fit within a chromosome, the DNA molecule has to be twisted and folded into a very complex shape. (encyclopedia.com)
  • Each chromosome contains one DNA molecule and each DNA molecule contains several genes or individual strands. (reference.com)
  • In this activity, we ignore the 23 chromosomes, and pretend the DNA is a single, 2 meter (6 foot) long molecule. (epicofevolution.com)
  • This is the case for the ERVWE1 locus of the human endogenous retrovirus W family (HERV-W), which encodes an envelope glycoprotein (syncytin) likely involved in trophoblast differentiation. (pnas.org)
  • Although HERV-W mRNA expression was detected in various physiological ( 1 , 4 ) and pathological ( 2 , 5 , 6 ) contexts, HERV-W transcript pattern observed in placenta correlates with a LTR5′-U3 driven transcription coupled with a specific splicing strategy compatible with the ERVWE1 locus ( 1 ). (pnas.org)
  • In humans, lactoferrin gene LTF is located on the third chromosome in the locus 3q21-q23. (wikipedia.org)
  • At this locus, 6 index SNPs accounted for 3.2 % of log(B2M) variance, and their association with B2M could largely be explained by imputed classical alleles of the MHC class I genes: HLA-A, HLA-B, or HLA-C. The index SNPs at this locus were not associated with eGFR based on serum creatinine (eGFRcr). (elsevier.com)
  • The other locus of B2M was on chromosome 12 (rs3184504 at SH2B3, beta = 0.02, p value = 3.1 × 10 -8 ), which was previously implicated as an eGFR locus. (elsevier.com)
  • Retrieved on February 28, 2020 from https://www.news-medical.net/health/Chromosome-4-Related-Diseases.aspx. (news-medical.net)
  • The human genome contains about 3 billion nucleotides, about the same number of nucleotides as mice, apes and most other mammals. (epicofevolution.com)
  • DNA is a double helix made from two strands which are joined together by pairs of bases. (abpischools.org.uk)
  • If all the DNA strands in the human body were laid end to end, they would form a very thin strand about 6 billion miles long. (reference.com)
  • This chromosome represents around 6% to 6.5% of the DNA in the human genome and contains around 1000 to 1100 genes. (news-medical.net)
  • Section 14-1: Human Heredity Section 14-1 A circle represents a female. (slideserve.com)
  • The outer ring represents the chromosomes displaying tick marks every 100 bases. (plos.org)
  • Each orange line represents a single mate-pair as a link between one end of a read and its mate-pair. (plos.org)
  • The red square box in human histone gene repeats represents a pseudogene. (nih.gov)
  • Types Multiple gene disorder Depending on which type of chromosome is afected, they can be classified in Autosomal Sexual When the disease is related onto a no sexual chromosome Dominant Recesive Only one mutated copy of the gene will be necessary for a person to be affected by an autosomal dominant disorder. (prezi.com)
  • Some of the diseases and conditions linked to chromosome 4 are described below. (news-medical.net)
  • How long it takes for chromosomes to meet, when they meet and how long they remain in contact-things that studies like this one reveal-may improve scientists' understanding of certain diseases, Shi said. (phys.org)
  • There are estimated to be over 4000 human diseases caused by single gene defects. (prezi.com)
  • Adamov D, Guryanov V, Karzhavin S, Tagankin V, Urasin V. Defining a new rate constant for Y-chromosome SNPs based on full sequencing data . (isogg.org)
  • The human genome of Homo sapiens is stored on 23 chromosome pairs. (edinformatics.com)
  • Malignant melanoma has been documented to display recurring abnormalities of chromosome 6, particularly the long arm (6q). (elsevier.com)
  • Chromosome Abnormalities Fact Sheet. (wikibooks.org)
  • American Journal of Human Genetics , published online 25 April 2016. (isogg.org)
  • DNA is wrapped together to form chromosomes . (kidshealth.org)
  • The packaged form of DNA is called a chromosome. (dnacenter.com)
  • But the synaptonemal complex can form between non-homologous regions of the chromosomes, so pairing has to be coordinated with synapsis, and synapsis has to be regulated so it happens only between homologous chromosomes. (healthcanal.com)
  • DNA, itself is made up of four chemical bases, pairs of which form the "rungs" of the twisted, ladder-shaped DNA molecules. (edinformatics.com)
  • So at the end of the twentieth century, we have, on the one hand, the long established and well-known situation in polytene chromosomes where chromomeres form a regular linear pattern that bears some relationship to the arrangement of genes along the length of a chromosome. (springer.com)
  • They pair this way because A and T form two hydrogen bonds with each other and G and C form three. (visiblebody.com)