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.

Tumor suppression in human skin carcinoma cells by chromosome 15 transfer or thrombospondin-1 overexpression through halted tumor vascularization. (1/849)

The development of skin carcinomas presently is believed to be correlated with mutations in the p53 tumor suppressor and ras gene as well as with the loss of chromosome 9. We now demonstrate that, in addition, loss of chromosome 15 may be a relevant genetic defect. Reintroduction of an extra copy of chromosome 15, but not chromosome 4, into the human skin carcinoma SCL-I cells, lacking one copy of each chromosome, resulted in tumor suppression after s.c. injection in mice. Transfection with thrombospondin-1 (TSP-1), mapped to 15q15, induced the same tumor suppression without affecting cell proliferation in vitro or in vivo. Halted tumors remained as small cysts encapsulated by surrounding stroma and blood vessels. These cysts were characterized by increased TSP-1 matrix deposition at the tumor/stroma border and a complete lack of tumor vascularization. Coinjection of TSP-1 antisense oligonucleotides drastically reduced TSP-1 expression and almost completely abolished matrix deposition at the tumor/stroma border. As a consequence, the tumor phenotype reverted to a well vascularized, progressively expanding, solid carcinoma indistinguishable from that induced by the untransfected SCL-I cells. Thus, these data strongly suggest TSP-1 as a potential tumor suppressor on chromosome 15. The data further propose an unexpected mechanism of TSP-1-mediated tumor suppression. Instead of interfering with angiogenesis in general, in this system TSP-1 acts as a matrix barrier at the tumor/stroma border, which, by halting tumor vascularization, prevents tumor cell invasion and, thus, tumor expansion.  (+info)

In vivo nuclease hypersensitivity studies reveal multiple sites of parental origin-dependent differential chromatin conformation in the 150 kb SNRPN transcription unit. (2/849)

Human chromosome region 15q11-q13 contains a cluster of oppositely imprinted genes. Loss of the paternal or the maternal alleles by deletion of the region or by uniparental disomy 15 results in Prader-Willi syndrome (PWS) or Angelman syndrome (AS), respectively. Hence, the two phenotypically distinct neurodevelopmental disorders are caused by the lack of products of imprinted genes. Subsets of PWS and AS patients exhibit 'imprinting mutations', such as small microdeletions within the 5' region of the small nuclear ribonucleoprotein polypeptide N ( SNRPN ) transcription unit which affect the transcriptional activity and methylation status of distant imprinted genes throughout 15q11-q13 in cis. To elucidate the mechanism of these long-range effects, we have analyzed the chromatin structure of the 150 kb SNRPN transcription unit for DNase I- and Msp I-hypersensitive sites. By using an in vivo approach on lymphoblastoid cell lines from PWS and AS individuals, we discovered that the SNRPN exon 1 is flanked by prominent hypersensitive sites on the paternal allele, but is completely inaccessible to nucleases on the maternal allele. In contrast, we identified several regions of increased nuclease hypersensitivity on the maternal allele, one of which coincides with the AS minimal microdeletion region and another lies in intron 1 immediately downstream of the paternal-specific hypersensitive sites. At several sites, parental origin-specific nuclease hypersensitivity was found to be correlated with hypermethylation on the allele contributed by the other parent. The differential parental origin-dependent chromatin conformations might govern access of regulatory protein complexes and/or RNAs which could mediate interaction of the region with other genes.  (+info)

Molecular cloning of two new human paralogs of 85-kDa cytosolic phospholipase A2. (3/849)

Two new cloned human cDNAs encode paralogs of the 85-kDa cytosolic phospholipase A2 (cPLA2). We propose to call these cPLA2beta (114 kDa) and cPLA2gamma (61 kDa), giving the name cPLA2alpha to the well known 85-kDa enzyme. cPLA2beta mRNA is expressed more highly in cerebellum and pancreas and cPLA2gamma more highly in cardiac and skeletal muscle. Sequence-tagged site mapping places cPLA2beta on chromosome 15 in a region near a phosphoinositol bisphosphate phosphatase. The mRNA for cPLA2beta is spliced only at a very low level, and Northern blots in 24 tissues show exclusively the unspliced form. cPLA2beta has much lower activity on 2-arachidonoyl-phosphatidylcholine liposomes than either of the other two enzymes. Its sequence contains a histidine motif characteristic of the catalytic center of caspase proteases of the apoptotic cascade but no region characteristic of the catalytic cysteine. Sequence-tagged site mapping places cPLA2gamma on chromosome 19 near calmodulin. cPLA2gamma lacks the C2 domain, which gives cPLA2alpha its Ca2+ sensitivity, and accordingly cPLA2gamma has no dependence upon calcium, although cPLA2beta does. cPLA2gamma contains a prenyl group-binding site motif and appears to be largely membrane-bound. cPLA2alpha residues activated by phosphorylation do not appear to be well conserved in either new enzyme. In contrast, all three previously known catalytic residues, as well as one additional essential arginine, Arg-566 in cPLA2alpha, are conserved in both new enzyme sequences. Mutagenesis shows strong dependence on these residues for catalytic activity of all three enzymes.  (+info)

Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. (4/849)

PURPOSE: To determine the chromosomal location and to identify the gene causing a type of retinitis punctata albescens, called Bothnia dystrophy, found in a restricted geographic area in northern Sweden. METHODS: Twenty patients from seven families originating from a restricted geographic area in northern Sweden were clinically examined. Microsatellite markers were analyzed in all affected and unaffected family members. Direct genomic sequencing of the gene encoding cellular retinaldehyde-binding protein was performed after the linkage analysis had been completed. RESULTS: Affected individuals showed night blindness from early childhood with features consistent with retinitis punctata albescens and macular degeneration. The responsible gene was mapped to 15q26, the same region to which the cellular retinaldehyde-binding protein gene has been assigned. Subsequent analysis showed all affected patients were homozygous for a C to T substitution in exon 7 of the same gene, leading to the missense mutation Arg234Trp. Analysis of marker haplotypes suggested that all cases had a common ancestor who carried the mutation. CONCLUSIONS: A missense mutation in the cellular retinaldehyde-binding protein gene is the cause of Bothnia dystrophy. The disease is a local variant of retinitis punctata albescens that is common in northern Sweden due to a founder mutation.  (+info)

Cloning, characterization, and chromosomal location of a novel human K+-Cl- cotransporter. (5/849)

Differential display polymerase chain reaction has been used to isolate genes regulated in vascular endothelial cells by the angiogenic factor vascular endothelial cell growth factor (VEGF). Analysis of one of the bands consistently up-regulated by VEGF led us to the identification of a cDNA from a human umbilical vein endothelial cell library that is 77% identical to the human K+-Cl- cotransporter1 (KCC1). We have referred to the predicted protein as K+-Cl- cotransporter 3 (KCC3). Hydrophobicity analysis of the KCC3 amino acid sequence showed an almost identical pattern to KCC1, suggesting 12 membrane-spanning segments, a large extracellular loop with potential N-glycosylation sites, and cytoplasmic N- and C-terminal regions. The KCC3 mRNA was highly expressed in brain, heart, skeletal muscle, and kidney, showing a distinct pattern and size from KCC1 and KCC2. The KCC3 mRNA level in endothelial cells increased on treatment with VEGF and decreased with the proinflammatory cytokine tumor necrosis factor alpha, whereas KCC1 mRNA levels remained unchanged. Stable overexpression of KCC3 cDNA in HEK293 cells produced a glycoprotein of approximately 150 kDa, which was reduced to 120 kDa by glycosidase digestion. An increased initial uptake rate of 86Rb was seen in clones with high KCC3 expression, which was dependent on extracellular Cl- but not Na+ and was inhibitable by the loop diuretic agent furosemide. The KCC3 genomic localization was shown to be 15q13 by fluorescence in situ hybridization. Radiation hybrid analysis placed KCC3 within an area associated with juvenile myoclonic epilepsy. These results suggest KCC3 is a new member of the KCC family that is under distinct regulation from KCC1.  (+info)

Molecular cloning of a glycosylphosphatidylinositol-anchored molecule CDw108. (6/849)

CDw108, also known as the John-Milton-Hagen human blood group Ag, is an 80-kDa glycosylphosphatidylinositol (GPI)-anchored membrane glycoprotein that is preferentially expressed on activated lymphocytes and E. The molecular characteristics and biological function of the CDw108 were not clarified previously. In this manuscript, we identify the cDNA clone containing the entire coding sequence of the CDw108 gene and report its molecular characteristics. The 1998-base pairs of the open reading frame of the cloned cDNA encoded a protein of 666 amino acids (aa), including the 46 aa of the signal peptide and the 19 aa of the GPI-anchor motif. Thus, the membrane-anchoring form of CDw108 was the 602 aa, and the estimated molecular mass of the unglycosylated form was 68 kDa. The RGD (Arg-Gly-Asp) cell attachment sequence and the five potential N-linked glycosylation sites were located on the membrane-anchoring form. Flow cytometric and immunoprecipitation analyses of the CDw108 cDNA transfectants confirmed that the cloned cDNA encoded the native form of CDw108. The CDw108 mRNA was expressed in activated PBMCs as well as in the spleen, thymus, testis, placenta, and brain, but was not expressed in any other tissues tested. Radiation hybrid mapping indicated that the CDw108 gene was located in the middle of the long arm of chromosome 15 (15q23-24). This molecular information will be critical for understanding the biological function of the CDw108 Ag.  (+info)

An imprinted, mammalian bicistronic transcript encodes two independent proteins. (7/849)

Polycistronic transcripts are common in prokaryotes but rare in eukaryotes. Phylogenetic analysis of the SNRPN (SmN) mRNA in five eutherian mammals reveals a second highly conserved coding sequence, termed SNURF (SNRPN upstream reading frame). The vast majority of nucleotide substitutions in SNURF occur in the wobble codon position, providing strong evolutionary evidence for selection for protein-coding function. Because SNURF-SNRPN maps to human chromosome 15q11-q13 and is paternally expressed, each cistron is a candidate for a role in the imprinted Prader-Willi syndrome (PWS) and PWS mouse models. SNURF encodes a highly basic 71-aa protein that is nuclear-localized (as is SmN). Because SNURF is the only protein-coding sequence within the imprinting regulatory region in 15q11-q13, it may have provided the original selection for imprinting in this domain. Whereas some human tissues express a minor SNURF-only transcript, mouse tissues express only the bicistronic Snurf-Snrpn transcript. We show that both SNURF and SNRPN are translated in normal, but not PWS, human, and mouse tissues and cell lines. These findings identify SNURF as a protein that is produced along with SmN from a bicistronic transcript; polycistronic mRNAs therefore are encoded in mammalian genomes where they may form functional operons.  (+info)

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13). (8/849)

The most common etiology for Prader-Willi syndrome and Angelman syndrome is de novo interstitial deletion of chromosome 15q11-q13. Deletions and other recurrent rearrangements of this region involve four common 'hotspots' for breakage, termed breakpoints 1-4 (BP1-BP4). Construction of an approximately 4 Mb YAC contig of this region identified multiple sequence tagged sites (STSs) present at both BP2 and BP3, suggestive of a genomic duplication event. Interphase FISH studies demonstrated three to five copies on 15q11-q13, one copy on 16p11.1-p11.2 and one copy on 15q24 in normal controls, while analysis on two Class I deletion patients showed loss of approximately three signals at 15q11-q13 on one homolog. Multiple FISH signals were also observed at regions orthologous to both human chromosomes 15 and 16 in non-human primates, including Old World monkeys, suggesting that duplication of this region may have occurred approximately 20 million years ago. A BAC/PAC contig for the duplicated genomic segment (duplicon) demonstrated a size of approximately 400 kb. Surprisingly, the duplicon was found to contain at least seven different expressed sequence tags representing multiple genes/pseudogenes. Sequence comparison of STSs amplified from YAC clones uniquely mapped to BP2 or BP3 showed two different copies of the duplicon within BP3, while BP2 comprised a single copy. The orientation of BP2 and BP3 are inverted relative to each other, whereas the two copies within BP3 are in tandem. The presence of large duplicated segments on chromosome 15q11-q13 provides a mechanism for homologous unequal recombination events that may mediate the frequent rearrangements observed for this chromosome.  (+info)

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OBJECTIVE: Rare copy number variants have been implicated in different neurodevelopmental disorders, with the same copy number variants often increasing risk of more than one of these phenotypes. In a discovery sample of 22 schizophrenia patients with an early onset of illness (10-15 years of age), the authors observed in one patient a maternally derived 15q11-q13 duplication overlapping the Prader-Willi/Angelman syndrome critical region. This prompted investigation of the role of 15q11-q13 duplications in psychotic illness. METHOD: The authors scanned 7,582 patients with schizophrenia or schizoaffective disorder and 41,370 comparison subjects without known psychiatric illness for copy number variants at 15q11-q13 and determined the parental origin of duplications using methylation-sensitive Southern hybridization analysis. RESULTS: Duplications were found in four case patients and five comparison subjects. All four case patients had maternally derived duplications (0.05%), while only three of ...
Prader-Willi综合征是由于15号染色体长臂特异区基因缺失或母源二倍体所致,其共同的临床表现为新生儿期肌张力低下,儿童期肥胖,智力低下,青春期无性发育,身材矮小。本文报道儿童Prader-Willi 综合征合并扩张性心肌病一例,并探讨Prader-Willi综合征的临床表现及遗传学特征、治疗方案,及与扩张性心肌病之间的关联。 Prader-Willi syndrome (PWS) is a disorder caused by a deletion or disruption of genes in the proximal long arm of chromosome 15 or by maternal disomy in the proximal long arm of chromosome 15. Commonly associated characteristics of this disorder include diminished fetal activity, hypotonia, obesity, mental retardation, short stature, hypogonadism, and small hands and feet. We report a case of Prader-Willi syndrome with dilated cardiomyopathy, and review its Clinical manifestations, genetic characteristics and treatment method, then analysis the relation with the di- lated cardiomyopathy
Prader-Willi syndrome is a rare but major genetic condition that involves being overweight, substandard sexual development and low intelligence. This problem also puts those affected under risk for diabetes mellitus. People with Prader-Willi syndrome experience constant hunger, despite eating much more than average, which can cause life-threatening obesity. It was first observed in 1956. Prader-Willi syndrome is usually diagnosed with a genetic test. There is no cure for Prader-Willi syndrome. It can be treated with behavioural therapy. ...
TY - JOUR. T1 - Cellular and disease functions of the prader-willi syndrome gene magel2. AU - Tacer, Klementina Fon. AU - Potts, Patrick Ryan. PY - 2017/7/1. Y1 - 2017/7/1. N2 - Melanoma antigen L2 (MAGEL2 or MAGE-L2) is a member of the MAGE family of ubiquitin ligase regulators. It is maternally imprinted and often paternally deleted or mutated in the related neurodevelopmental syndromes, Prader-Willi Syndrome (PWS) and Schaaf- Yang Syndrome (SHFYNG). MAGEL2 is highly expressed in the hypothalamus and plays an important role in a fundamental cellular process that recycles membrane proteins from endosomes through the retromer sorting pathway. MAGEL2 is part of a multi-subunit protein complex consisting of MAGEL2, the TRIM27 E3 ubiquitin ligase, and the USP7 deubiquitinating enzyme. The MAGEL2-USP7-TRIM27 (or MUST) complex facilitates the retromer recycling pathway through ubiquitination and activation of the WASH actin nucleation promoting factor. This review provides an overview of the MAGE ...
Prader-Willi Syndrome is caused by the absence of paternally expressed, maternally silenced genes at 15q11-q13. We report four individuals with truncating mutations on the paternal allele of MAGEL2, a gene within the Prader-Willi syndrome (PWS) domain. The first case was ascertained by whole genome trio analysis for PWS features. Three additional patients were identified in a cohort of 400 cases submitted for clinical whole exome sequencing to a clinical laboratory. The phenotypes of the four probands ranged from meeting criteria for PWS to some features of PWS, but autism spectrum disorders (ASDs) were present in all four probands. The reported MAGEL2 mutations are de novo in three cases, and not inherited from the mother in one case (father unavailable). Using two different methodologies, we show that the mutations are on the paternal allele of the MAGEL2 gene in all four cases, and therefore probably pathogenic. First, we performed long fragment analysis in conjunction with parental SNP ...
Prader-Willi Syndrome (PWS) is a rare, complex, unique, multistage genetic disorder which affects 1 in 15,000 births.. Males and females of all races and ethnicities are affected equally. PWS occurs randomly and is a result of an abnormality of the 15th chromosome pair. The anomaly occurs around the time of conception and first cell division. Currently, PWS is thought to be an utterly accidental occurrence. It is not the fault of either parent and rarely reoccurs in the same family. A small piece of genetic material that is missing or not working on the 15th chromosome is responsible for the characteristics that make up this syndrome.. Prader- Will Syndrome is a complex neurodevelopmental disorder due to errors in genomic imprinting with the loss of imprinted genes that are paternally expressed from the chromosome 15, which means it is silenced, or not active on the mothers chromosome and the information required is read from the fathers copy. If the required section on the fathers chromosome ...
Angelman syndrome dominant or recessive - Is angelman syndrome dominant or recessive? Neither. Angelmans syndrome doesnt follow simple mendelian genetics. Rather, its due to de novo single genetic mutations, translocational errors, chromosomal abnormalities, or more commonly epi-genetic mutations such as changes in dna methylation.
Neurobehavioral phenotype in Prader-Willi syndrome.: The focus of this article is on the lifetime development of people with Prader-Willi syndrome (PWS) and spe
This set of guidelines was designed to assist the pediatrician in caring for children with Prader-Willi syndrome diagnosed by clinical features and confirmed by molecular testing. Prader-Willi syndrome provides an excellent example of how early diagnosis and management can improve the long-term outcome for some genetic disorders. ...
PWSA of GA is a Chapter in Good Standing of PWSA-USA and is a tax-exempt, charitable organization dedicated to providing information, education and support to affected persons and families/professionals dealing with Prader-Willi Syndrome. It is our mission to improve the quality of lives, and to encourage research into the causes, management and cure of Prader-Willi Syndrome. If you would like to be a member of PWSA of GA, please fill out the membership application at this link. PWSAGA New member form. ...
The article by Donze et al., in a recent issue of EJE (1), concludes that prompt initiation of rhGH treatment of infants with Prader-Willi Syndrome (PWS) permits the development of cognition (as measured by IQ) at the same pace as healthy peers. Up until this century, the Prader-Willi (aka Prader-Labhart-Willi) syndrome (OMIM #176270) was a little known, rare genetic condition among endocrinologists other than being part of their differential diagnosis of obesity.. PWS is a multisystem, genetically heterogeneous condition caused by a lack of paternal gene expression at the chromosome 15q11-q13 PWS locus and is one of many syndromes which has helped us to further understand the importance of epigenetics to gene expression. Its birth incidence estimates have increased over time as genetic testing has moved to DNA methylation analysis as the primary test, and it is currently thought to be approximately 1:15 000 live births (2).. The clinical phenotype changes over time, from prenatal followed by ...
Global Markets Directs, Prader-Willi Syndrome (PWS) - Pipeline Review, H1 2018, provides an overview of the Prader-Willi Syndrome (PWS)
Prader-Willi syndrome is a rare genetic disorder in which up to seven genes on chromosome 15 are deleted or unexpressed on the paternal chromosome.
Psychology definition for Prader-Willi Syndrome (PWS) in normal everyday language, edited by psychologists, professors and leading students. Help us get better.
Prader-Willi syndrome (PWS) is a rare, multifaceted genetic disorder resulting from the absence of normally active paternally expressed genes from the 15q11-q13 chromosome region. Due to a lack of anthropometric and intellectual data in Taiwan, we at
Prader-Willi syndrome (PWS) is a complex multi-system genetic disorder that results from abnormalities in the critical region of chromosome
Prader-Willi syndrome (PWS) is a rare genetic disorder. It is the most common cause of obesity caused by a genetic syndrome and is primarily characterised by: neonatal hypotonia sexual infancy: hypogonadism obesity there usually morbid obesit...
Prader-Willi syndrome (PWS) is a rare genetic condition that causes a wide range of symptoms, including constant hunger, restricted growth and learning difficulties.
Learn about the different characteristics of Prader-Willi syndrome, a rare genetic disorder, including obesity caused by an excessive appetite.
Editors Note: Gabriela H. (17) describes her research on the Prader-Willi Syndrome conducted at the Columbia University Research Center. ...
Semantic Scholar extracted view of [Prader-Willi syndrome and anesthetic management (authors transl)]. by Hidekazu Yukioka et al.
Our loved ones in Texas with Prader-Willi Syndrome need higher levels of care and current state program restructuring. Join the campaign and make a difference.
Learn about our international community, members, associations and contact us to find local Prader-Willi support in your country.
Then, the boys and I took Saoirse (Seer-Shuh) to a local dog park. There I was almost instantly connected to this sweet, bright soul named Katie. She was there with her companion to observe the dogs. Katie likes dogs. I waved to Katie and she immediately pointed back at me and walked her companion over to me. She took my hand and guided me around the dog portion of this park. Katie is non-verbal and has Angelmans Syndrome (I was told it was Angels Syndrome but I couldnt find that exact syndrome, so I assume the companion meant Angelmans Syndrome). Katie reminded me of a person with Cerebral Palsy and a lower functionality. Her smile was big and bright. Her demeanor happy and excited to be around dogs. Her companion said Katie loves to be outside. So, they spend time visiting dog parks and even animal shelters where Katie will walk up and down the rows or sit and enjoy the presence of a canine once in awhile. I tried not to talk around her, because I know she can hear and understand me. Yet, ...
The mission of FPWR is to eliminate the challenges of Prader-Willi syndrome through the advancement of research. High-quality research will lead to more effective treatments and an eventual cure for this disorder. By working together, we intend to free our loved ones from the burdens of PWS, allowing them to lead full and independent lives ...
The mission of FPWR is to eliminate the challenges of Prader-Willi syndrome through the advancement of research. High-quality research will lead to more effective treatments and an eventual cure for this disorder. By working together, we intend to free our loved ones from the burdens of PWS, allowing them to lead full and independent lives ...
Individuals with Prader-Willi syndrome should have the opportunity to pursue their hopes and dreams to the full extent of their talents and capabilities. The success of people with PWS depends greatly
There is no cure for PWS. However, doctors can often treat some of the conditions that go along with PWS. The doctor will talk with you about creating a treatment plan for your childs needs and symptoms.. Common PSW treatments include:. ...
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During his time in hospital he had countless blood tests, MRI scans and x-rays. His paediatrician luckily had seen Angelmans Syndrome once before and had his blood tested for it. It was only when we were told that he needed to have these genetic tests that I became wary. It was a total shock when the tests came back positive and we were told that he had Angelmans - Id never heard of it before, she said ...
Prader-Willi Syndrome (PWS) is a genetic disorder caused by a lack of the 11q-13q segment of the paternal chromosome 15. Although the cause of the lack of genetic information varies, the result is an extreme increase in ...
Discover the latest international news, research and information on Prader-Willi Syndrome, from leading experts and the PWS community.
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Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct disorders caused by imprinting defects in the chromosome 15q11.2-q13 region. Unaffected individuals have one methylated allele (maternal) and one unmethylated allele (paternal).. Prader-Willi syndrome (PWS) is caused by absence of the paternal (unmethylated) allele at chromosome locus 15q11.2-q13, which causes a constellation of physical and cognitive findings. The absence of the paternal allele can be caused by a number of genetic mechanisms.. Prader-Willi syndrome occurs with a frequency of 1 in 10,000 to 1 in 30,00 births and is characterized by specific facial features (almond shaped palpebral fissures, narrowed bi-frontal diameter), significant hypotonia during infancy, and hypogonadism. Hypotonia in affected children typically improves by 2 to 3 years of age, however by early childhood most affected individuals exhibit central obesity due to hyperphagia and global developmental delay.. Angelman syndrome (AS) is a ...
Hi, Welcome to this Club where families and friends of those who have Angelman Syndrome can share and give each other support on raising a child with Angelman Syndrome. We have a 2 & 1/2 yr. old son with Angelman Syndrome caused by a chromosone 15 deletion. For more information about Angelman Syndrome, you may go to the ASF home page at:
This article includes discussion of Angelman syndrome and happy puppet syndrome. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.. Overview. Angelman syndrome is a neurodevelopmental disorder characterized by intellectual disability, epilepsy, ataxia, and a unique behavioral phenotype. In this article, the author discusses the diagnosis, prognosis, genetic counseling, and health surveillance of patients with Angelman syndrome. Also discussed are studies using models of Angelman syndrome, which provide insight into the pathoetiology and potential treatment of Angelman syndrome.. Key points. ...
Angelman syndrome (AS) is a rare neurogenetic disorder that affects approximately one in 15,000 people - about 500,000 individuals worldwide. Children and adults with AS typically have balance issues, motor impairment and debilitating seizures. Some individuals never walk. Most do not speak. Disrupted sleep cycles also can be a serious challenge to the individual and caretaker(s). Individuals with AS require continuous care and are unable to live independently. They have a normal life expectancy. This is life today for people living with Angelman syndrome, but hope is here. Scientists believe that AS has the greatest potential for being cured when compared to other neurogenetic disorders, and FAST (Foundation for Angelman Syndrome Therapeutics) has a plan well underway to achieve just that.. Types Causes Tests & Diagnosis Resources. ...
Angelman Syndrome needs answers. The current worldwide crisis in healthcare calls for changes that challenge the fundamental dynamics of our organisations: to reduce spending while maintaining quality and searching for therapies for Angelman Syndrome.. Together and individually all partner organisations and their members (predominantly parents and siblings of people with Angelman syndrome) have played a key role in transforming knowledge about AS over the past 5 decades. There have already been major breakthroughs in our understanding of AS, and advancements in the past few years have enabled us to believe that a treatment is within our reach that could significantly improve the lives of individuals with AS.. Identifying and developing treatments for Angelman Syndrome. Together we identify research that challenges our knowledge of AS today, to enable us to develop solutions for future therapies. ASA has a Scientific Board, a group of volunteer scientists, who advise us and support our goals. The ...
What is Prader-Willi syndrome? Prader-Willi syndrome is a genetic imprinting disorder affecting chromosome 15, which causes various symptoms, including overeating and obesity. This video provides an illustrated overview of Prader-Willi syndrome, including the causes, symptoms, and pathology, as well as proper strategies for diagnosis and treatment.. For more study tools from Osmosis on Medscape, see our collection here. ...
This study is to investigate if intranasal oxytocin will improve hyperphagia, social skills, and behaviors in subjects with Prader-Willi syndrome. This will be a randomized placebo controlled pilot study. The primary outcome measure is to determine if intranasal administration of oxytocin will cause any adverse events in subjects with Prader-Willi syndrome. Secondarily, the investigators will also perform evaluations to determine if intranasal oxytocin has any effect on social skills, behaviors, or appetite in children with Prader-Willi syndrome ...
Get information, facts, and pictures about Prader-Willi syndrome at Make research projects and school reports about Prader-Willi syndrome easy with credible articles from our FREE, online encyclopedia and dictionary.
We each have two number 15 chromosomes, one inherited from our mother (M.) and one inherited from our father (P, paternal). The Angelman syndrome gene (UBE3A) is located at chromosome 15, band q12, as depicted. In the brain, the Angelman gene is primarily expressed from the maternally inherited chromosome 15. The diagrams below illustrate the four known genetic mechanisms that cause Angelman syndrome. Continue Reading → ...
Angelman Syndrome By Ciera Carr Dr. Glimps 2006 Carr 1 Ciera Carr Dr. Glimps Research Paper Angelman Syndrome Angelman syndrome is a genetic disorder that
Angelman syndrome: Find the most comprehensive real-world symptom and treatment data on Angelman syndrome at PatientsLikeMe. 21 patients with Angelman syndrome experience fatigue, insomnia, depressed mood, pain, and anxious mood.
The mission of the Angelman Syndrome Foundation is to advance the awareness and treatment of Angelman syndrome through education and information, research, and support for individuals with Angelman syndrome, their families and other concerned parties. We exist to give all of them a reason to smile, with the ultimate goal of finding a cure.. ...
According to the Angelman Syndrome Foundation, AS is a rare neuro-disorder that can be caused by a missing maternal chromosome 15, the inheritance of two paternal chromosomes, a chromosomal imprinting defect, or a mutation of the maternally delivered chromosome 15. Its characterized by severe developmental delays, sleep disturbance, speech impairment, seizures, jerky movements (especially hand-flapping or waving), frequent chuckling or smiling, and generally excitable and happy demeanor. Although there is now prenatal testing for AS, detecting rare chromosomal abnormalities, it was not available when Poletto was pregnant.. If you Google Angelman Syndrome, youre going to get the worst case scenario for everything, says Poletto. She added that she couldnt believe that her smart, present, and aware little boy could be suffering from such a rare syndrome that affects 1 in 12,000 to 20,000 people and is often misdiagnosed as autism.. The genetics test results also came back confirming Angelman ...
Prader-Willi syndrome (PWS) is a complex multiple anomaly syndrome that has been shown to result from deficient expression of paternal chromosome 15(q11-q13). In most cases, it is caused either by deletion of this region in the paternally inherited chromosome 15 or by maternal uniparental disomy (UP …
Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS) region have been associated with developmental delay (DD), autism spectrum disorder (ASD) and schizophrenia (SZ). Due to presence of imprinted genes within the region, the parental origin of these duplications may be key to the pathogenicity. Duplications of maternal origin are associated with disease, whereas the pathogenicity of paternal ones is unclear. To clarify the role of maternal and paternal duplications, we conducted the largest and most detailed study to date of parental origin of 15q11.2-q13.3 interstitial duplications in DD, ASD and SZ cohorts. We show, for the first time, that paternal duplications lead to an increased risk of developing DD/ASD/multiple congenital anomalies (MCA), but do not appear to increase risk for SZ. The importance of the epigenetic status of 15q11.2-q13.3 duplications was further underlined by analysis of a number of families, in which the duplication was paternally derived ...
Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS) region have been associated with developmental delay (DD), autism spectrum disorder (ASD) and schizophrenia (SZ). Due to presence of imprinted genes within the region, the parental origin of these duplications may be key to the pathogenicity. Duplications of maternal origin are associated with disease, whereas the pathogenicity of paternal ones is unclear. To clarify the role of maternal and paternal duplications, we conducted the largest and most detailed study to date of parental origin of 15q11.2-q13.3 interstitial duplications in DD, ASD and SZ cohorts. We show, for the first time, that paternal duplications lead to an increased risk of developing DD/ASD/multiple congenital anomalies (MCA), but do not appear to increase risk for SZ. The importance of the epigenetic status of 15q11.2-q13.3 duplications was further underlined by analysis of a number of families, in which the duplication was paternally derived ...
Felicity Williams has previously served on our scientific advisory board. Felicity works as a staff specialist pediatrician at The Canberra Hospital and is currently Director of Paediatric Education her specialties are general paediatrics including neurodevelopmental disorders, clinical genetics infant health and child protection. She is actively involved in medical student and RACP trainee supervision, teaching, and examinations. Felicitys combination of medical knowledge and experience as a parent contributes positively to directing priorities in Angelman Syndrome research.. Felicity and her husband have three boys, her middle child, Sebastian, has Angelman syndrome.. ...
Learn about the various steps in diagnosing Angelman syndrome, from a physical exam and MRI scan to a combination of genetic tests done on a blood sample.
Angelman Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.. ...
Introduction: Individuals with Prader-Willi syndrome (PWS) suffer from hyperphagia, hypotonia and hypothalamic dysfunction, leading to a variety of pituitary hormone deficiencies. Central adrenal insufficiency (CAI) has been reported in PWS, while each of these studies used different testing modalities and cut-off values. Therefore, reported prevalence of CAI ranges from 0% to 60%. It has been speculated that CAI might be responsible, at least in part, for the high mortality (3%) in patients with PWS. If CAI is present, timely diagnosis and treatment is needed in order to prevent avoidable mortality. There are no guidelines on the appropriate evaluation and management of CAI in adults with PWS. In our center, many adult patients with PWS receive standard hydrocortisone (HC) treatment around physical and/or psychological periods of stress. Frequent administration of HC increases the risk of obesity, hypertension, osteoporosis and diabetes, already a major problem in adults with PWS. It is ...
Prader-Willi syndrome (PWS) is a genetic disease caused by a loss of paternal genes located in chromosome 15. Children affected by this syndrome often have preterm delivery; during childhood the hallmarks are: severe infantile hypotonia and feeding problems. Afterward, neurologic manifestations, endocrine signs and dysmetabolic abnormalities are usually seen together with craniofacial manifestations and musculoskeletal abnormalities. Obesity causes sleep abnormalities including sleep apnea. The case we present is of a 5 year old child (CA) scheduled for strabismus surgery. The child has a lot of typical (PWS) signs. A number of anaesthesiologic problems are associated with (PWS). Some of them relate to obesity, others to facial dysmorphism. Moreover, the syndrome may give a prolonged and exaggerated response to every sedative drug. P.W.S. is also characterized by thermoregulatory disorders. Sleep apnea occurs often. Considering all these problems, we planned a monopharmacologic anaesthesiologic ...
In the last 20 years, substantial improvements have been made in the diagnosis, treatment and management of patients with Prader-Willi syndrome (PWS). Few data on causes of death are available since those improvements were made. Our study assessed the causes of death among French patients with PWS over the first 11 years of experience of the nationwide French Reference Center for PWS (FRC-PWS). Our study relied on two sources of mortality information at national level between 2004 and 2014: The French Epidemiological Centre for the Medical Causes of Death (CépiDc) Registry and the FRC-PWS database. Causes of death were classified into seven categories: respiratory, cardiovascular, gastrointestinal, severe infection, sudden death, other causes, and unknown. Descriptive statistics were calculated separately for children (| 18 years-old) and adults (≥18 years-old). One hundred and four deaths were identified in France from 2004 to 2014. The median age at death was 30 years, ranging from less than 1
BACKGROUND: Sleep-related breathing disorders are common in individuals with Prader-Willi syndrome (PWS). The US Food and Drug Administration approved the use of growth hormone in PWS in 2000.
The primary objective of this study is to assess the efficacy of Cannabidiol Oral Solution on hyperphagia-related behavior in subjects with Prader-Willi Syndrome (PWS). The secondary objectives of this study are to assess the efficacy, safety and tolerability, impact on quality of life, and impact on physical activity of Cannabidiol Oral Solution in subjects with PWS ...
Prader-Willi Syndrome is a genetic condition due to changes to Chromosome 15 which occur before birth. Read more about its symptoms, treatment & management.
Information on Prader-Willi Syndrome, pictures, symptoms, causes and treatment. The life expectancy can be equivalent of a normal individual if there is
Maynooth Students for Charity, the organisers of the iconic Galway Cycle, has announced that the recipient charity for 2014 will be the Prader-Willi Syndrome As...
Learn more about Prader-Willi Syndrome at Medical City Dallas DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
We are proud to collaborate with the Angelman Syndrome Foundation, the Dup15q Alliance in Linking Angelman and Dup15q Data for Expanded Research (LADDER). ...
In most cases of Angelman syndrome, the childs parents dont have the condition and the genetic difference responsible for the syndrome occurs by chance around the time of conception.. The typical characteristics of Angelman syndrome are caused when the Angelman gene, known as UBE3A, is either absent or malfunctions. A gene is a single unit of genetic material (DNA) which acts as an instruction for the way an individual is made and develops.. A child usually inherits one copy of the UBE3A gene from each parent. Both copies are switched on (active) in most of the bodys tissues. However, in certain areas of the brain, only the gene inherited from the mother is active.. In most cases of Angelman syndrome (about 70%), the childs maternal copy of the UBE3A gene is missing (deleted), which means theres no active copy of the UBE3A gene in the childs brain.. In around 11% of cases, the maternal copy of the UBE3A gene is present but altered (mutated). In a small number of cases, Angelman syndrome ...
... is located on human chromosome 2, at 2p24.3. It has 1512 base pairs in the reference sequence mRNA transcript. The ... 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs ... Family with sequence similarity 49, member A, also known as FAM49A, is a protein which in humans is encoded by the FAM49A gene ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
Humans have 23 pairs of chromosomes and other great apes have 24 pairs of chromosomes. In the human evolutionary lineage, two ... Human and chimpanzee chromosomes are very similar. The primary difference is that humans have one fewer pair of chromosomes ... Human evolutionary genetics Human chromosome 2 Human Genome Project Suntsova, M.V.; Buzdin, A.A. (2020-09-10). "Differences ... producing human chromosome 2. There are nine other major chromosomal differences between chimpanzees and humans: chromosome ...
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 ...
Chromosome 4 open reading frame 51 (C4orf51) is a protein which in humans is encoded by the C4orf51 gene. The C4orf51 gene is ... GXP_921944 spans 1910 base pairs on chromosome 4. There are 15 coding transcripts supporting this promoter, but none are ... "C4orf51 chromosome 4 open reading frame 51 [Homo sapiens (human)] - Gene - NCBI". Retrieved 2019-05-06. " ... "C4orf51 chromosome 4 open reading frame 51 [Homo sapiens (human)] - Gene - NCBI". Retrieved 2019-04-21. ...
... is located at 15q21.3-q22.1, spanning 90,707 base pairs on chromosome 15. The full name of FAM63B is family with ... FAM63B is a protein which in humans is encoded by the gene FAM63B. This gene is highly expressed in humans. The FAM63B gene is ... FAM63B variant a is the most common isoform found in humans. FAM63B is a member of the Pfam super family, and contains a domain ... The discovered function of FAM63B protein is a transporter of vaccinia virus in the human genome. FAM63B contains a bipartite ...
In humans, it is encoded by the ALOX15 gene located on chromosome 17p13.3. This 11 kilobase pair gene consists of 14 exons and ... The distribution of Alox15 in sub-human primates and, in particular, rodents differs significantly from that of human ALOX15; ... Both human ALOX15 and ALOX15B genes are located on chromosome 17; their product proteins have an amino acid sequence identity ... human ALOX15 forms ω-6 peroxy intermediates; in PUFAs that do have this third double bound, human ALOX15 makes the ω-6 peroxy ...
The MORN1 gene is located on Chromosome 1 at locus 1p36.33 and contains 7 MORN repeats. It has 1641 base pairs in 14 exons in ... 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. Bibcode:2006Natur.441.. ... MORN1 containing repeat 1, also known as Morn1, is a protein that in humans is encoded by the MORN1 gene. The function of Morn1 ... MORN1 is nearby the SKI gene which encodes the SKI protein, LOC100129534, and RER1 gene on the positive strand of chromosome 1. ...
All strawberry (Fragaria) species have a base haploid count of seven chromosomes; Fragaria vesca is diploid, having two pairs ... Evidence from archaeological excavations suggests that Fragaria vesca has been consumed by humans since the Stone Age. Woodland ... Five to eleven soft, hairy white flowers are borne on a green, soft-hairy 3-15 centimetres (1.2-5.9 in) stalk that usually ... of these chromosomes for a total of 14. ... 14-15 weeks in climate-controlled greenhouses) ease of ...
Rs727428 position 7634474 is in several percent of humans.[16]. (TAAAA)(n) is five base pairs that repeats a variable number of ... In humans common polymorphisms include the following: Rs6259, also called Asp327Asn location 7633209 on Chromosome 17, results ... The gene for SHBG is called Shbg located on chromosome 17[11] on the short arm between the bands 17p12→p13.[12] Overlapping on ... Hryb DJ, Nakhla AM, Kahn SM, St George J, Levy NC, Romas NA, Rosner W (July 2002). "Sex hormone-binding globulin in the human ...
Genes TTC23L and LOC105374721 neighbor RAI14 on chromosome 5. RAI14 is expressed within a wide range of human tissues. Some ... It spans 5,068 base pairs from position 34,656,328 to 34,832,612. ... Within the human brain, RAI14 expression is abundant in the area around the brain stem and medulla. The highest expression ... "Allen Brain Atlas: Human Brain". Allen Brain Atlas. "NCBI: Protein Blast". Retrieved March 2, 2018. "ankycorbin isoform a [Homo ...
... with most paralogs being located on different human chromosomes. It is speculated that this large number of paralogs arose from ... The POTEB gene is 47,547 base pairs in length and is composed of 11 exons. The POTEB gene can be transcribed to create four ... "Selective POTE paralogs on chromosome 2 are expressed in human embryonic stem cells". Stem Cells and Development. 17 (2): 325- ... POTEB is expressed at high levels in the human prostate, ovary, and testes. However, there is also evidence to show that it is ...
The gene produces a 2958 base pair mRNA. There are 15 predicted exons in the human gene with four other splice patterns ... Leucine rich repeat containing 40 (LRRC40) is a protein that in humans is encoded by the LRRC40 gene. LRRC40 is conserved ... LRRC40 is located on the negative DNA strand (see Sense (molecular biology)) of chromosome 1 from 70,611,483- 70,671,223. ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Mouse PubMed ...
The NDUFB4 gene, located on the q arm of chromosome 3 in position 13.33, is 6,130 base pairs long. The NDUFB4 protein weighs 15 ... The human NDUFB4 gene codes for a subunit of Complex I of the respiratory chain, which transfers electrons from NADH to ... NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa is a protein that in humans is encoded by the NDUFB4 gene. The ... "Entrez Gene: NDUFB4 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa [ Homo sapiens (human) ]". Voet D, Voet JG, ...
As this karyotype displays, a diploid human cell contains 22 pairs of homologous chromosomes and 2 sex chromosomes.. Section ... chromosomes." For example, the number of homologous sets of chromosomes in humans is 23 if one considers a "set" to be one pair ... Number of homologous pairs[edit]. The introduction states: a typical human somatic cell contains [...] 23 homologous chromosome ... What about the X chromosome and Y chromosome in male humans? By the definition they do not belong to any homologous set, since ...
"Identification of a second human subtilisin-like protease gene in the fes/fps region of chromosome 15". DNA and Cell Biology. ... "cDNA and gene structure for a human subtilisin-like protease with cleavage specificity for paired basic amino acid residues". ... Furin is an enzyme that in humans is encoded by the FURIN gene. Some proteins are inactive when they are first synthesized, and ... Furin is also known as PACE (Paired basic Amino acid Cleaving Enzyme). A member of family S8, furin is a subtilisin-like ...
Chromosome 15 open reading frame 52 is a human protein encoded by the C15orf52 gene, its function is poorly understood. ... The linear mRNA is 5344 base pairs long. The mRNA contains a short 5' untranslated region of 15 base pairs and a long 3' ... Glycine and Arginine were found at higher frequencies than other proteins in humans. The isoelectric point of the protein is ... C15orf52 is a gene located on the reverse strand of chromosome 15 in the species Homo sapiens at locus 15q15.1. The gene is ...
... is a protein that in humans is encoded by the Chromosome 15 open reading frame 15 (C15orf39) gene. C15orf39 is located ... The coding sequence for the C15orf39 mRNA is 4443 base pairs long. The C15orf39 gene produces seven mRNA transcripts, with the ... human)] - Gene - NCBI". Retrieved 2018-05-05. "Homo sapiens chromosome 15 open reading frame 39 (C15orf39 ... "C15orf39 - Antibodies - The Human Protein Atlas". Retrieved 2018-05-05. "PSORT II Prediction". psort.hgc. ...
2007 Human genome and variation mapping The human genome is the genome of Homo sapiens, which is stored on 23 chromosome pairs ... 1953 DNA structure In 1953, based on X-ray diffraction images and the information that the bases were paired, James D. Watson ... In the late 1970s, Robert Weinberg and his team of researchers began the search for a human oncogene. Using gene transfer ... 1998 Embryonic stem cell lines A breakthrough in human embryonic stem cell research came in November 1998 when a group led by ...
In humans, Robertsonian translocations occur in the five acrocentric chromosome pairs (chromosome pairs where the short arms ... or non-homologous chromosomes (i.e. two different chromosomes, not belonging to a homologous pair). A feature of chromosomes ... This type of translocation is cytologically visible, and can reduce chromosome number (from 23 to 22 pairs, in humans) if the ... In humans, when a Robertsonian translocation joins the long arm of chromosome 21 with the long arm of chromosomes 14 or 15, the ...
One centimorgan corresponds to about 1 million base pairs in humans on average.[1][2] The relationship is only rough as the ... The number of base-pairs to which it corresponds varies widely across the genome (different regions of a chromosome have ... in humans 1 centimorgan on average represents a distance of about 7.5x10E5 base pairs. ... It is defined as the distance between chromosome positions (also termed loci or markers) for which the expected average number ...
In humans, the encoding gene for MSH3 is found on chromosome 5 at location 5q11-q12 upstream of the dihydrofolate reductase ( ... MSH3 is encoded by 222,341 base pairs and creates a protein consisting of 1137 amino acids. MSH3 is typically expressed at low ... Identification of the human CHL12/RFCs2-5 complex as a novel PCNA-binding protein". J. Biol. Chem. 277 (43): 40362-7. doi: ... 1984). "The functional human dihydrofolate reductase gene". J. Biol. Chem. 259 (6): 3933-43. PMID 6323448. Shinya E, Shimada T ...
This promoter is 601 base pairs long and spans a portion of the 5' UTR. FAM214A is considered to be ubiquitously expressed (or ... FAM214A is a gene with unknown function found at the q21.2-q21.3 locus on Chromosome 15 (human). The protein product of this ... Protein FAM214A, also known as protein family with sequence similarity 214, A (FAM214A) is a protein that, in humans, is ... A single paralogous gene has been found on chromosome 9 in Homo sapiens and is named FAM214B (family with sequence similarity, ...
The COX5A gene, located on the q arm of chromosome 15 in position 24.1, is made up of 5 exons and is 17,880 base pairs in ... Cytochrome c oxidase subunit 5a is a protein that in humans is encoded by the COX5A gene. Cytochrome c oxidase 5A is a subunit ... Human COX5A genome location and COX5A gene details page in the UCSC Genome Browser. Mass spectrometry characterization of COX5A ... Rizzuto R, Nakase H, Zeviani M, DiMauro S, Schon EA (Sep 1988). "Subunit Va of human and bovine cytochrome c oxidase is highly ...
In humans, CHST14 is positioned on the long arm (q) of chromosome 15 at position 15.1, from base pair 40,470,961 to base pair ... Human CHST14 genome location and CHST14 gene details page in the UCSC Genome Browser. Otsuki T, Ota T, Nishikawa T, Hayashi K, ... Carbohydrate sulfotransferase 14 is an enzyme that in humans is encoded by the CHST14 gene. CHST14, a protein-coding gene, ... August 2010). "Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome". Human Mutation. 31 (8): 966-74. ...
"Identification of a second human subtilisin-like protease gene in the fes/fps region of chromosome 15". DNA and Cell Biology. ... "cDNA and gene structure for a human subtilisin-like protease with cleavage specificity for paired basic amino acid residues". ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. ... "Entrez Gene: FURIN furin (paired basic amino acid cleaving enzyme)".. *^ Roebroek AJ, Schalken JA, Leunissen JA, Onnekink C, ...
Scherer LJ, McPherson JD, Wasmuth JJ, Marsh JL (June 1992). "Human dopa decarboxylase: localization to human chromosome 7p11 ... a one-base pair deletion at 601 and a four-base pair deletion at 722-725 in exon 1 in relation to bipolar disorder and autism. ... The gene encoding the enzyme is referred to as DDC is located on chromosome 7 in humans. It consists of 15 exons encoding a ... In humans, AADC is also the rate-limiting enzyme in the formation of trace amines. Aromatic l-amino acid decarboxylase ...
Humans have one pair fewer chromosomes than the great apes. Human chromosome 2 appears to have resulted from the fusion of two ... The typical human karyotypes contain 22 pairs of autosomal chromosomes and one pair of sex chromosomes (allosomes). The most ... The karyotype of humans includes only 46 chromosomes. The other great apes have 48 chromosomes. Human chromosome 2 is now known ... In primates, the great apes have 24x2 chromosomes whereas humans have 23x2. Human chromosome 2 was formed by a merger of ...
... specifically from base pair 28,000,020 to base pair 28,344,457 on chromosome 15. OCA2 provides instructions for making the ... OCA2 encodes the human homologue of the mouse p (pink-eyed dilution) gene. The human OCA2 gene is located on the long arm (q) ... Eiberg H, Troelsen J, Nielsen M, Mikkelsen A, Mengel-From J, Kjaer KW, Hansen L (2008). "Blue eye color in humans may be caused ... A mutation in the HERC2 gene adjacent to OCA2, affecting OCA2's expression in the human iris, is found common to nearly all ...
... from base pair 148,709,194 to base pair 148,745,455. Transcription of human glycogenin-1 is mainly initiated at 80bp and 86bp ... A Glycogenin-1 deficiency leads to Glycogen storage disease type XV. Deficiency of glycogenin-1 is detected in the sequence of ... The GYG1 gene is located on the long arm of the chromosome 3, between positions 24 and 25, ... In humans, two isoforms of glycogenin can be expressed: glycogenin-1, with a molecular weight of 37 kDa and codified by GYG1 ...
The UBE3A gene lies within the human chromosomal region 15q11-13. Other abnormalities in this region of chromosome 15 can also ... from base pair 23,133,488 to base pair 23,235,220. Mutations within the UBE3A gene are responsible for some cases of Angelman ... Lu Z, Hu X, Li Y, Zheng L, Zhou Y, Jiang H, Ning T, Basang Z, Zhang C, Ke Y (August 2004). "Human papillomavirus 16 E6 ... Anan T, Nagata Y, Koga H, Honda Y, Yabuki N, Miyamoto C, Kuwano A, Matsuda I, Endo F, Saya H, Nakao M (November 1998). "Human ...
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 ...
Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene.[5] ... Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... Poleev A, Fickenscher H, Mundlos S, Winterpacht A, Zabel B, Fidler A, Gruss P, Plachov D (November 1992). "PAX8, a human paired ... Members of this gene family typically encode proteins which contain a paired box domain, an octapeptide, and a paired-type ...
... is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6 (not to be ... 1 million base pairs centromeric from DQ2.5 may also be associated with Type 1 diabetes. In addition the BAT1 and MICB variant ... These unique chromosomes are produced by recombination of each unique chromosome passed by each grandparent to each parent. ... At 4.7 million nucleotides in length, A1::DQ2 is the second longest haplotype identified within the human genome.[1] A1::DQ2 ...
By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... "American Journal of Human Genetics. 64 (1): 225-31. doi:10.1086/302198. PMC 1377721. PMID 9915962.. ... Van Den Berghe, Pierre L (2010). "Human inbreeding avoidance: Culture in nature". Behavioral and Brain Sciences. 6: 91-102. doi ... HumansEdit. See also: Incest, Incest taboo, Pedigree collapse, and Cousin marriage ...
... so each human chromosome can be identified by a characteristic color using whole-chromosome probe mixtures and a variety of ... Each probe for the detection of mRNA and lncRNA is composed of 20 oligonucleotide pairs, each pair covering a space of 40-50 bp ... The chromosomes can be seen in blue. The chromosome that is labeled with green and red spots (upper left) is the one where the ... Then, an interphase or metaphase chromosome preparation is produced. The chromosomes are firmly attached to a substrate, ...
Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the PSEN1 gene.[5] Presenilin-1 is one of the four ... Kang DE, Soriano S, Xia X, Eberhart CG, De Strooper B, Zheng H, Koo EH (September 2002). "Presenilin couples the paired ... "Genetic linkage evidence for a familial Alzheimer's seasesease locus on chromosome 14". Science. 258 (5082): 668-71. Bibcode: ... Tanahashi H, Tabira T (February 1999). "Isolation of human delta-catenin and its binding specificity with presenilin 1". ...
... 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 ...
... 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 ... LYPLA3: encoding enzyme Group XV phospholipase A2. *MC1R: melanocortin 1 receptor. *MCOPCT1: Microphthalmia with cataract 1 ... 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 ...
... each human diploid cell (containing 23 pairs of chromosomes) has about 1.8 meters of DNA; wound on the histones, the diploid ... This involves the wrapping of DNA around nucleosomes with approximately 50 base pairs of DNA separating each pair of ... of the human genome in five human cell lines". Genome Research. 17 (6): 691-707. doi:10.1101/gr.5704207. PMC 1891331. PMID ... is a transcription factor which activates histone gene transcription on chromosomes 1 and 6 of human cells. NPAT is also a ...
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 ... 9 (15): 1177-89. doi:10.2174/1381612033454919. PMID 12769745.. *^ Moller DE (Dec 2001). "New drug targets for type 2 diabetes ...
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 ... ... 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 ... HMGB (1, 2, 3) • HNF (1A, 1B) • LEF1 • SOX (1, 2, 3, 4, 5, 6, 8, 9, 10, 11, 12, 13, 14, 15, 18, 21) • SRY • SSRP1 • TCF (3, 4) ...
"Final report on the human rights situation of the Roma, Sinti and travellers in Europe". The European Commissioner for Human ... "Y CHROMOSOME SINGLE NUCLEOTIDE POLYMORPHISMS TYPING BY SNaPshot MINISEQUENCING" (PDF). Retrieved 20 December 2016. ... and 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. ...
Modern Human Origins, and Complex Disease Mapping, Annual Review of Genomics and Human Genetics" (pdf). 9. Retrieved December ... In the 2003 PBS programme African American Lives, Bishop T.D. Jakes had his DNA analyzed; his Y chromosome showed[dubious - ... Igbo women were paired with Coromantee (Akan) men to subdue the men because of the belief that the women were bound to their ... Institute for the Study of Human Issues.. *^ ". Chisholm, Hugh, ed. (1911). "Ibo". Encyclopædia Britannica. 14 (11th ed.). ...
... a minimal reference phylogeny for the human Y chromosome". Human Mutation. 35 (2): 187-91. doi:10.1002/humu.22468. PMID ... Position (base pair): 180. Total size (base pairs): 366. Forward 5′→ 3′: aactcttgataaaccgtgctg. Reverse 5′→ 3′: ... a b c The Y Chromosome Consortium 2008 *^ a b c d e f g Cristofaro; et al. (2013). "Afghan Hindu Kush: Where Eurasian Sub- ... 2004). "Excavating Y-chromosome haplotype strata in Anatolia". Human Genetics. 114 (2): 127-48. doi:10.1007/s00439-003-1031-4. ...
"The Y Chromosome Pool of Jews as Part of the Genetic Landscape of the Middle East". The American Journal of Human Genetics. 69 ... that overlies Druze and Cypriot samples but not samples from other Levantine populations or paired Diaspora host populations. ... "American Journal of Human Genetics. 86 (6): 850-9. doi:10.1016/j.ajhg.2010.04.015. PMC 3032072. PMID 20560205.. ... "European Journal of Human Genetics. 15 (4): 498-500. doi:10.1038/sj.ejhg.5201764. PMID 17245410.. ...
The genotype of the male consists of a Y chromosome paired with an X chromosome. Female gender is determined by the absence of ... Redirected from Human male reproductive system). This article is about the reproductive system in human males. For the male ... This occurs when one X chromosome contains a segment of the Y chromosome, which was inserted into the X chromosome of the ... If this sperm cell contains an X chromosome it will coincide with the X chromosome of the ovum and a female child will develop ...
SMN1 is located in a telomeric region of human chromosome 5 and also contains SMN2 in a centromeric region. SMN1 and SMN2 are ... This single base pair change leads to only 10-20% of SMN2 transcripts resulting in fully functional SMN protein and 80-90% of ... European Journal of Human Genetics : EJHG. 21 (6): 643-52. doi:10.1038/ejhg.2012.222. PMC 3658191. PMID 23073311.. ... American Journal of Human Genetics. 85 (3): 408-13. doi:10.1016/j.ajhg.2009.08.002. PMC 2771537. PMID 19716110.. ...
... ancestry subjects show strong evidence for association between smoking quantity and multiple genetic variants on chromosome ... Chromosomes, Human, Pair 15* * European Continental Ancestry Group * Female * Gene Frequency * Genetic Variation* ... We demonstrate association between smoking quantity and markers in the chromosome 15q25 region across all three populations, ... a meta-analysis of chromosome 15q25 Genet Epidemiol. 2012 May;36(4):340-51. doi: 10.1002/gepi.21627. ...
Deletions of the proximal long arm of chromosome 15 (bands 15q11q13) are found in the majority of patients with two distinct ... Chromosome Banding * Chromosome Mapping * Chromosomes, Human, Pair 15* * Cloning, Molecular * DNA / blood ... Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15 ... Deletions of the proximal long arm of chromosome 15 (bands 15q11q13) are found in the majority of patients with two distinct ...
... trisomy 15 (with or without -Y), who did not have any morphologic or clinical features of hematologic disease at initial ... Chromosome Deletion. Chromosomes, Human, Pair 15 / genetics*. Chromosomes, Human, Y / genetics. Female. Humans. In Situ ... a clonal chromosome abnormality in bone marrow with doubtful hematologic significance. ... Clonal trisomy 15 in isolation or in combination with -Y is an uncommon cytogenetic finding that does not seem to be associated ...
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 15. Factor Analysis, Statistical. Female. Humans. Hyperphagia / epidemiology*. ... Vanderbilt Kennedy Center for Research on Human Development, 230 Appleton Place, Peabody Box 40, Vanderbilt University, ... Title: Obesity (Silver Spring, Md.) Volume: 15 ISSN: 1930-7381 ISO Abbreviation: Obesity (Silver Spring) Publication Date: 2007 ...
Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 15". Genet Test. 3 (3): 309-322 ... Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e. ... G-bands of human chromosome 15 in resolution 850 bphs[19]. Chr. Arm[20]. Band[21]. ISCN. start[22]. ISCN. stop[22]. Basepair. ... Wikimedia Commons has media related to Human chromosome 15.. *. National Institutes of Health. "Chromosome 15". Genetics Home ...
Chromosomes, Human, Pair 15. 1. 2011. 365. 0.030. Why? Single-Cell Analysis. 1. 2018. 1542. 0.030. Why? ...
... base pairs) and represents more than 3 percent of the total DNA in cells. Learn about health implications of genetic changes. ... Chromosome 15 spans more than 102 million DNA building blocks ( ... Humans normally have 46 chromosomes in each cell, divided into ... Ensembl Human Map View. *Gilbert F. Disease genes and chromosomes: disease maps of the human genome. Chromosome 15. Genet Test ... A ring chromosome occurs when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a ...
All human genes come in pairs, except for those related to sex characteristics. One copy is from the father, called the ... In PWS, it is thought that the paternal genes on chromosome 15 are either missing or faulty. ... It remains unclear which genes are involved, but the abnormality is found on chromosome 15. ... People with PWS have seven genes on chromosome 15 that are deleted or unexpressed. ...
Our genome has 23 pairs of chromosomes. Each chromosome is a long string of beads, but unlike a string of beads it is not ... Human genome quiz, Its ten years since scientists sequenced the human genome, the first step in answering some of the ... Human genome holds dark secrets. An enormous effort has been spent surveying many diseases for a genetic cause over the last ... Mapping of the human genome over the last decade has identified the genetic mutations that cause many simple genetic diseases ...
Human Apolipoprotein B Transgenic Mice Generated with 207- and 145-Kilobase Pair Bacterial Artificial Chromosomes. Evidence ... Human Apolipoprotein B Transgenic Mice Generated with 207- and 145-Kilobase Pair Bacterial Artificial Chromosomes. Evidence ... We reported previously that ~80-kilobase pair (kb) P1 bacteriophage clones spanning either the human or mouse apoB gene (clones ... To test this possibility, transgenic mice were generated with 145- and 207-kb bacterial artificial chromosomes (BACs) that ...
Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 15". Genet Test. 3 (3): 309-322 ... Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 15: entries, gene ... The human leukocyte antigen gene for β2-microglobulin is found at chromosome 15. The following are some of the gene count ... The following is a partial list of genes on human chromosome 15. For complete list, see the link in the infobox on the right. ...
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 15, one copy inherited from ... Human brain organoids are remarkable platforms for modeling features of human brain development and diseases. ... Chromosome 15 spans about 100 million base pairs (the building blocks of DNA) and represents more than 3 percent of the total ... Chromosome 15 likely contains between 650 and 1,000 genes.. Genes on chromosome 15 are among the estimated 20,000 to 25,000 ...
Chromosomes, Human, Pair 15. genetics. Cohort Studies. genetics. Endometriosis. genetics. Female. genetics. ...
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, Pair 15 (genetics) *Chromosomes, Human, Pair 16 (genetics) *Female. *Gene Amplification ... including dosage-dependent over-expression of the chromosome 16-encoded ERK1 in trisomy 16. This supports a role for chromosome ... with trisomy 16 the most common trisomy in human conceptions. The pathogenesis and protein expression profiles in trisomic ... trisomy 16 or trisomy 15) and compared to chromosomally normal (euploid) miscarriages (n = 4). ...
Allele: Human genes occur in pairs, one on each chromosome of a chromosome pair. Each gene of the pair is called an "allele." ... Humans have 46 chromosomes, 22 pairs of autosomes (the non-sex chromosomes), and the sex chromosomes either XX (females) or XY ... Reproductive germ cells are haploid (that is, they carry only 23 chromosomes (only one chromosome from each of the 22 pairs ... This generates two complementary strands of base-pairs. The entire sequence of the human genome contains billions of base-pairs ...
Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 ... "Chromosome 8". Genetics Home Reference. Retrieved 2017-05-06. "Chromosome 8". Human Genome Project Information Archive 1990- ... The following is a partial list of genes on human chromosome 8. For complete list, see the link in the infobox on the right. ... "Human chromosome 8: entries, gene names and cross-references to MIM". UniProt. 2018-02-28. Retrieved 2018-03-16. "Search ...
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 ...
... reside on chromosomes 12 and 11 (36-39). The present study places βIII spectrin on human chromosome 11q13 (SPTBN2) and mouse ... Using the Stanford G3 radiation hybrid panel (16) and a primer pair located at the beginning of the low-homology region ... markers that map near SPTBN2 on human chromosome 11 map distal to nmd on fine maps of chromosome 19 (G. Cox, personal ... The human βIII spectrin gene (SPTBN2) maps to chromosome 11q13 and the mouse gene (Spnb3) maps to a syntenic region close to ...
Genetic information passes to a child in a pair of chromosomes-one from the father and one from the mother. PWS is caused by ... US Department of Health and Human Services National Institutes of Health Directory Follow follow us on Facebook follow us on ... In PWS, however, the critical region on the paternal chromosome either is inactive or missing. Infants with PWS fail to thrive ... The study is supported in part by NIHs Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD ...
The human genome consists of approximately 22,000 genes packed into 23 pairs of chromosomes. Each gene is encoded as DNA, which ... 5] "Starting from a region on the long arm of human chromosome 17 of the human genome, 17q, which has a size estimated at about ... Chromosome 17 has approximately 80 million nucleotides, and chromosome 13 has approximately 114 million. Association for ... A pairs with T; C pairs with G. The nucleotide cross-bars are chemically connected to a sugar-phosphate backbone that forms the ...
Disorder Detectives is sure to engage your students and pique their interest in the impact of chromosome disorders on human ... Taking on the role of cytogeneticists, students diagnose the diseases of 15 different patients using... ... Kit is designed for 30 students working in pairs. Additional reusable decals for the kit (Disorder Detectives Decal Set, Pack ... This kit provides students with a hands-on experience studying human chromosomes and connecting various karyotypes with ...
Fingerprint Dive into the research topics of Duplication of the Distal Long Arm of Chromosome 15: Report of Three New Patients ... Duplication of the Distal Long Arm of Chromosome 15: Report of Three New Patients and Review of the Literature. ...
Each human cell has 23 pairs of chromosomes, 1 of them this type rated XX or XY. ... A key to mapping the human genome was the random-sequencing method known by the name of this weapon. ... Suggest correction - #3728 - 2000-11-15. Fill in your contact information if you would like to be notified when your correction ... Show #3728 - Wednesday, November 15, 2000. 2000-B College Championship semifinal game 1. From the University of Washington in ...
... or whether the nucleic acid sequence of interest is localized in the chromosomes, nucleus, or cytoplasm of a cell. The methods ... Genes on homologous chromosomes are not closely paired. Because the neu oncogene is more centrally localized at interphase than ... virus in infected human lymphocytes and empirically detected the presence of human muscular dystrophy DNA in human cells taken ... Harper, Mary E. et al., "Localization of Single Copy DNA Sequences on G-Banded Human Chromosomes by in situ Hybridization" ...
28) 23 pairs of chromosomes in the human body. 31) 6 balls to an over in cricket, Im not sure you would know that.... hope ... 28) 23 pairs of chromosomes in the human body. 31) 6 balls to an over in cricket, Im not sure you would know that.... hope ... 15 P in a R T ?? 15 3 W on a T 3 wheels on a tricycle 16 100 C in a R ??. 17 11 P in a F (S) T 11 players in a football (soccer ... 14) 15 players on a rugby team. 19) 13 is unlucky for some. 20) 8 tentacles on an octopus. ...
Ex humans have 46 chromosomes 23 pairs of chromosomes *Source of pairs each parent provides one chromosome of the pair ... 12.2 Chromosome Number*Diploid (2n) a cell with the double set of chromosomes ... 12.2 Chromosome Number*Meiosis process that produces haploid gametes (sperm eggs) *It can also produce spores haploid cells ... Chapter 2 - Title: Chapter 2 Chromosomes and Sexual Reproduction Author: Jill Last modified by: Jill Carroll Created Date: 1/17 ...
There is a race going on to lower the cost human gene sequencing to a level of a comprehensive battery of blood tests. The ... called chromosomes. These strands are paired, connected side to side along their lengths. Humans have 23 pairs of chromosomes. ... These strands are paired, connected side to side along their lengths. Humans have 23 pairs of chromosomes. www.Options-Trading- ... The human genome is the sum total of all human genes.Human genes are present on long strands of DNA (complex molecules) called ...
Chromosome Mapping. *Chromosomes, Human, Pair 15/genetics. *Costa Rica. *DNA Mutational Analysis ... Human and mouse proteins encoded by FLJ20561 cDNA homologues. The top line in each pair shows the predicted 311-amino-acid open ... Narrowing the CLN6 region on human chromosome 15. A, Schematic of locations of DNA markers that delimit the genomic 15q22-23 ... Candidate CLN6 mutations in human and mouse FLJ20561. A, G317T mutation, in exon 3, found on Costa Rican disease chromosomes. ...
  • Evidence of beta 3 gene deletion was also found in an AS patient with an unbalanced 13;15 translocation but not in a PWS patient with an unbalanced 9;15 translocation. (
  • The human leukocyte antigen gene for β2-microglobulin is found at chromosome 15. (
  • The following are some of the gene count estimates of human chromosome 15. (
  • 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 ). (
  • So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (
  • We reported previously that ~80-kilobase pair (kb) P1 bacteriophage clones spanning either the human or mouse apoB gene (clones p158 and p649, respectively) confer apoB expression in the liver of transgenic mice, but not in the intestine. (
  • To test this possibility, transgenic mice were generated with 145- and 207-kb bacterial artificial chromosomes (BACs) that contained the human apoB gene and more extensive 5'- and 3'-flanking sequences. (
  • This supports a role for chromosome-specific effects in the pathogenesis of trisomy (gene dosage hypothesis). (
  • We have discovered another member of the β-spectrin gene family by homology searches of the GenBank databases and by 5′ rapid amplification of cDNA ends of human brain cDNAs. (
  • The human βIII spectrin gene ( SPTBN2 ) maps to chromosome 11q13 and the mouse gene ( Spnb3 ) maps to a syntenic region close to the centromere on chromosome 19. (
  • In humans and mice, four spectrin genes, encoding the αI-, αII-, βI-, and βII-spectrin subunits, have been identified ( 12 ), yet exhaustive PCR analysis has failed to identify any βI- or βII-spectrin gene products as the Golgi-associated spectrin (unpublished observations). (
  • Analysis of gene expression utilized the Human RNA Master Blot and Multiple Tissue Northern blot (CLONTECH) according to manufacturer's instructions. (
  • Each gene of the pair is called an "allele. (
  • Efficient studies of long-distance Bmp5 gene regulation using bacterial artificial chromosomes. (
  • Here we describe the use of bacterial artificial chromosome clones to rapidly survey hundreds of kilobases of DNA for potential regulatory sequences surrounding the mouse bone morphogenetic protein-5 (Bmp5) gene. (
  • Normal human diploid cells placed in culture have a finite proliferative life-span and enter a nondividing state termed senescence, which is characterized by altered gene expression ( 1 , 2 ). (
  • We used Spectral Karyotyping (SKY), mapping with fluorescently labeled genomic clones (FISH), comparative genomic hybridization (CGH) arrays, gene expression arrays, Western immunoblot and real time polymerase chain reaction (PCR) to analyze 15 early passage mouse lung adenocarcinoma cell strains and nine pairs of high-invasive and low-invasive mouse lung adenocarcinoma tumor cell strain pairs to detect genetic biomarkers associated with mouse lung adenocarcinoma phenotype and tumor invasion. (
  • Within these minimal regions of chromosome 1 duplication, analysis of gene expression arrays and confirmation by real time PCR demonstrated increased expression of COX-2, Translin (TB-RBP), DYRK3, NUCKS and Tubulin-a4 genes in the high-invasive cell strains. (
  • microchromosomes are very tiny gene -rich chromosomes which are a typical genetic component in birds , and some groups of non-mammalian animals? (
  • T24T is able to form colonies in soft agar, whereas T24 is not, and expresses HRAS, a gene associated with increased aggressiveness in human TCC, at higher levels than T24. (
  • There is a race going on to lower the cost human gene sequencing to a level of a comprehensive battery of blood tests. (
  • Gene sequencing allows scientists to map a chromosome. (
  • In some of these cases, genetic analysis has indicated that the prenatal and postnatal growth retardation associated with Chromosome 15 Ring (and potentially suggestive of RSS) may result from deletion of a gene known as the insulin-like growth factor I receptor (IGF1R) gene, which has been mapped to the long arm of chromosome 15 (15q25-q26). (
  • Animal studies may help to fill the gaps in human genome-wide association studies (GWAS) by allowing for gene mapping and functional studies, which cannot be performed in human patients and may yield greater insights into the mechanisms of autoimmune T and B cell responses in RA [ 2 - 4 ]. (
  • A gene is a short length of a chromosome and the genes control the development of different characteristics. (
  • The gene for SHBG is called Shbg located on chromosome 17 [11] on the short arm between the bands 17p12→p13. (
  • Using human tissue arrays, a systematic profiling of protein expression and subcellular localization was undertaken for the putative gene products. (
  • As a pilot project, we describe an analysis of the putative gene products of human chromosome 21. (
  • Just one gene on the Y chromosome, the SRY gene, is responsible for male anatomical traits. (
  • Gene maps showed that blocks of conserved syntenies between zebrafish and humans were large, but gene orders were frequently inverted and transposed. (
  • Consideration of duplicate chromosome segments shows that at least 20% of duplicated gene pairs may be retained from this event. (
  • Morgan's evidence that a specific gene is carried on the X chromosome helped confirm the chromosomal theory of inheritance. (
  • It is anticipated that further developments in positional cloning of susceptibility and severity genes in hypertension and its complications will lead to a direct transfer of these discoveries to essential hypertension in humans and will ultimately produce novel targets for local and systemic gene therapy in cardiovascular disease. (
  • Statistics produced by SeqAssist or derived from SeqAssist output files are designed to inform the user: whether, what percentage, how many times and how evenly a genomic locus (i.e., gene, scaffold, chromosome or genome) is covered by sequencing reads, how redundant the sequencing reads are in a single run or between two runs. (
  • When the Human Genome Project is complete, isolating a disease gene of interest will take just a couple of months. (
  • Inversions are balanced structural chromosome rearrangements, which can influence gene expression and the risk of unbalanced chromosome constitution in offspring. (
  • During Drosophila embryogenesis, paired acts as one of several pair-rule genes that define the boundaries of future parasegments and segments, via the regulation of segment polarity genes such as gooseberry, which in turn regulates gooseberry-neuro, a gene expressed later in the developing nervous system. (
  • That is about 1 gene for every 4338 base pairs. (
  • Two copies of the alpha-globin gene (designated alpha-2 and alpha-1) are located on each chromosome 16. (
  • Regulation of human alpha-globin gene expression and alpha-thalassemia. (
  • Claim 16: A pair of single-stranded DNA primers for determination of a nucleotide sequence of a BRCA1 gene by a polymerase chin reaction, the sequence of said primers being derived from human chromosome 17q, wherein the use of said primers in a polymerase chain reaction results in the synthesis of DNA having all or part of the sequence of the BRCA1 gene. (
  • Claim 17: The pair of primers of claim 16 wherein said BRCA1 gene has the nucleotide sequence set forth in SEQ ID NO:1. (
  • A pair of single-stranded DNA primers of at least 15 nucleotides in length for determination of the nucleotide sequence of a BRCA2 gene by a polymerase chain reaction, the sequence of said primers being isolated from human chromosome 13, wherein the use of said primers in a polymerase chain reaction results in the synthesis of DNA comprising all or at least 15 contiguous nucleotides of the BRCA2 gene. (
  • DNA methylation is a common epigenetic marker and plays important roles in the regulation of gene expression, genomic imprinting, X-chromosome inactivation, embryonic development, and cancer5. (
  • Scientists used to think that a single gene pair following dominant and recessive inheritance patterns was responsible for this trait. (
  • Now they know there are at least three gene pairs controlling human eye color. (
  • Geneticists have focused on two of the three gene pairs to help clarify the inheritance of eye color: the gey gene and the bey 2 gene. (
  • The bey 2 gene, on chromosome 15, has a brown and a blue allele. (
  • An allele is a form of the gene occupying a specific position on the chromosome. (
  • Located on chromosome 19, the gey gene has a blue and a green allele. (
  • The third gene, bey 1, located on chromosome 15, is a central brown eye color gene. (
  • Two of the conditions (Angelman syndrome and Prader-Willi syndrome) involve a loss of gene activity in the same part of chromosome 15, the 15q11.2-q13.1 region. (
  • Angelman syndrome results from a loss of gene activity in a specific part of chromosome 15, the 15q11-q13 region. (
  • This chromosomal change deletes the region of chromosome 15 that includes the UBE3A gene. (
  • Because the copy of the UBE3A gene inherited from a person's father (the paternal copy) is normally inactive in the brain, a deletion in the maternal chromosome 15 results in no active copies of the UBE3A gene in the brain. (
  • People with paternal UPD for chromosome 15 have two copies of the UBE3A gene, but they are both inherited from the father and are therefore inactive in the brain. (
  • About 10% of Angelman syndrome cases are caused by a mutation in the UBE3A gene, and another 3% result from a defect in the DNA region that controls the activation of the UBE3A gene and other genes on the maternal copy of chromosome 15. (
  • Paired box protein Pax-7 is a protein that in humans is encoded by the PAX7 gene. (
  • The specific function of the paired box gene 7 is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. (
  • The deletion occurs on the q arm of the chromosome at a position designated q13.3. (
  • The duplication of chromosomes 1 and 15 and deletion of chromosome 8 were significantly associated with a high-invasive phenotype. (
  • To define the precise region of chromosome 13q involved in ESC, we examined 60 ESC specimens with 18 microsatellite markers on 13q and constructed a detailed deletion map. (
  • Chromosome 15 Ring results from loss (deletion) of genetic material from both ends of the 15th chromosome and a joining of the ends to form a ring. (
  • Although the project was designed to provide a general proof-of-concept for whole proteome analysis, specific information gained from the chromosome 21-encoded proteome may be valuable for the studies of a range of common complex diseases that map to this chromosome, also including disorders such as cancer and Down syndrome that result from deletion or duplication of sequences on this chromosome. (
  • In most cases (about 70%)[citation needed], people with Angelman syndrome have a deletion in the maternal copy of chromosome 15. (
  • Therefore, a person with a deletion in the paternal chromosome 15 will have no active genes in this region. (
  • Chromosome 15 spans about 101 million base pairs (the building material of DNA ) and represents between 3% and 3.5% of the total DNA in cells . (
  • Chromosome 15 spans more than 102 million DNA building blocks (base pairs) and represents more than 3 percent of the total DNA in cells. (
  • Most people with a 15q13.3 microdeletion are missing a sequence of about 2 million DNA base pairs, also written as 2 megabases (Mb). (
  • The blackened boxes indicate base pairs that are identical in all three species. (
  • Similarly, when they tried to sequence so-called "shatter" libraries - created by breaking the PCR products into bits that were an average of 500 base pairs long - the team was unable to come up with sequence that was the correct size to fill the gaps. (
  • TAAAA)(n) is five base pairs that repeats a variable number of times on the opposite DNA strand. (
  • The mouse genome is contained in 20 chromosome pairs and the current results suggest that it is about 2.7 billion base pairs in size, or about 15 percent smaller than the human genome. (
  • The human genome is 3.1 billion base pairs spread out over 23 pairs of chromosomes (22 autosomes and the X and the Y sex chromosomes). (
  • How many base pairs are contained within each nucleosome? (
  • 17). The irrelevant information known as introns found on BRCA1 range in size from 403 base pairs to 9.2 kilobases (Internet 3). (
  • Human Genome Project researchers have done very little actual human DNA sequencing thus far, perhaps only about a million base-pairs of sequence. (
  • By most accounts, the sequencing technology has progressed over the past five years to the point where cost-effective sequencing of the 3 billion human base pairs over the next decade seems a realistic goal. (
  • 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. (
  • The size of data files is often in the magnitude of mega- or giga-bytes (up to 1000 giga base pairs or Gb in a single sequencing run) and is likely to increase further in the years to come. (
  • The number of base-pairs to which it corresponds varies widely across the genome (different regions of a chromosome have different propensities towards crossover) and it also depends on if the meiosis where the crossing-over takes place is a part of oogenesis (formation of female gametes) or spermatogenesis (formation of male gametes). (
  • One centimorgan corresponds to about 1 million base pairs in humans on average. (
  • They analysed 2.5 million variations in DNA base pairs - the letters which spell out the genetic code - to identify common spelling 'errors' linked to ovarian cancer risk. (
  • However, these reads are only a couple of hundred base pairs long making it difficult for an assembler ( e.g. , [ 1 , 2 ]) to reconstruct the genome. (
  • The Plasmodium falciparum genome is approximately 23 mega base pairs long. (
  • It consists of fourteen chromosomes with varying sizes from 0.643 to 3.29 mega base pairs long. (
  • We design a new binary data format for Hi-C data that reduces the file size by at least a magnitude and allows users to visualize chromatin interactions over millions of base pairs within seconds. (
  • The hope of modern human genetics is to identify the genetic component of common diseases affecting mankind such as hypertension, heart disease, strokes, the dementias and autoimmune diseases. (
  • Respondent Myriad Genetics, Inc. (Myriad), discovered the precise location and [2111] sequence of two human genes, mutations of which can substantially increase the risks of breast and ovarian cancer. (
  • Human Genetics. (
  • Elaine Ostrander, chief of cancer genetics at the National Human Genome Research Institute, said dog genetics could help narrow down the search for human disease genes. (
  • Consequently, we know very little about the genetic causes of infertility in humans," said Schimenti, a Cornell professor of genetics. (
  • Ambry Genetics was one of the first companies to announce that it would provide genetic diagnostic testing for the BRCA 1 and BRCA 2 genes on the day the U.S. Supreme Court announced its decision in AMP v. Myriad Genetics on the question of "whether human genes are patentable. (
  • Journal of Assisted Reproduction and Genetics , 15 (5), 281-284. (
  • 15q13.3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. (
  • Individuals with this condition are missing a small piece of chromosome 15 that usually contains six genes, but which one of the genes is responsible for the clinical characteristics of patients has not been clear. (
  • Dup15q syndrome is caused by the presence of at least one extra copy of a region of chromosome 15 called 15q11.2-q13.1. (
  • In individuals with Chromosome 15, Distal Trisomy 15q, an extremely rare chromosomal disorder, the end (distal) portion of the long arm (q) of chromosome 15 (15q) is duplicated (trisomic). (
  • In individuals with Chromosome 15 Ring, the variability of associated symptoms and findings may depend upon the amount and location of genetic material lost from the 15th chromosome, the stability of the ring chromosome during subsequent cellular divisions, or other factors. (
  • Many individuals with Chromosome 15 Ring have some features similar to those associated with Russell-Silver syndrome (RSS), which is a genetic disorder characterized by growth deficiency and short stature, distinctive facial abnormalities, and other features. (
  • In many individuals with Chromosome 15 Ring, craniofacial malformations may result in a distinctive facial appearance. (
  • Deletions of the proximal long arm of chromosome 15 (bands 15q11q13) are found in the majority of patients with two distinct genetic disorders, Angelman syndrome (AS) and Prader-Willi syndrome (PWS). (
  • A cluster of low copy repeats on the proximal long arm of chromosome 15 mediates various forms of stereotyped deletions and duplication events that cause a group of neurodevelopmental disorders that are associated with autism or autism spectrum disorders (ASD). (
  • Uniparental disomy is the inheritance of two homologous chromosomes from one parent. (
  • One might read this to mean "homologous sets" (ie: sets of homologous chromosomes), or homologous "sets of (non-homologous) chromosomes. (
  • For example, the number of homologous sets of chromosomes in humans is 23 if one considers a "set" to be one pair of homologous chromosomes, or it could be 2 if one considers a "set" to be the collective number of non-homologous chromosomes. (
  • Ploidy therefore refers to the number of sets of non-homologous chromosomes, not homologous chromosomes. (
  • Perhaps a more accurate definition would be something like, "Number of homologous sets of non-homologous chromosomes. (
  • Nondisjunction: the members of a pair of homologous chromosomes do not move apart properly during meiosis I or II. (
  • Mapping of the human genome over the last decade has identified the genetic mutations that cause many simple genetic diseases such as cystic fibrosis and a small percentage of cancers, such as some breast and bowel cancers. (
  • Mapping with FISH and CGH array further narrowed the minimum region of duplication of chromosome 1 to 40 centimorgans (cM) and 71-82 cM. (
  • Because few descriptions of LD for most regions of the human genome exist, we searched the human genome for the amount and extent of LD among 5048 autosomal short tandem repeat polymorphism (STRP) loci ascertained as specific haplotypes in the European CEPH mapping families. (
  • Under normal circumstances, genes in this region are inactive, or silenced, on maternal chromosome 15 but active on paternal chromosome 15. (
  • In 3% to 7% of cases,[citation needed] Angelman syndrome occurs when a person has two copies of the paternal chromosome 15 instead of one copy from each parent. (
  • In about 70% of cases,[citation needed] Prader-Willi syndrome occurs when the 15q11-q13 region of the paternal chromosome 15 is deleted. (
  • Rarely, the condition is caused by an abnormality in the DNA region that controls the activity of genes on the paternal chromosome 15. (
  • Dup15q syndrome arises only if the chromosome abnormality occurs on the copy of the chromosome inherited from the mother (the maternal copy). (
  • The lifetime risk for a woman carrying the DNA variant on one copy of the chromosome is increased by 20 per cent from ten in 1000 to 12 in 1000. (
  • The genes in this region are normally active on the paternal copy of the chromosome and are inactive on the maternal copy. (
  • Abstract -Human essential hypertension is a complex, multifactorial, quantitative trait under a polygenic control. (
  • This paper compares corresponding non-MHC genomic regions identified in rodent and human genome-wide association studies (GWAS). (
  • To begin evaluating these, the team designed six primer pairs spanning the chromosome 15 gaps and used them to amplify human genomic DNA. (
  • Furthermore, a stepwise (locus-by-locus) 5-cM sliding-window analysis across 22 autosomes revealed nine genomic regions (2.2-6.4 cM), where the frequency of small FET probabilities among loci was greater than or equal to that presented by the HLA on chromosome 6, a region known to have extensive LD. (
  • VariO terms describe local DNA changes, chromosome number and structure variants, chromatin alterations, as well as genomic changes, whether of genetic or non-genetic origin. (
  • Despite very significant recent progress in genomic and statistical tools, the genetic dissection of human essential hypertension still provides a major challenge. (
  • Stanford University sequenced chromosome 12, The Institute for Genomic Research and the Malaria Program of the Naval Medical Research Center worked on chromosomes 2, 10, 11 and 14 and the Sanger Centre sequenced chromosomes 1, 3-9, 13. (
  • The region is subject to genomic imprinting and the behavioral phenotypes associated with the chromosome 15q11.2-q13 disorders show a parent-of-origin specific effect that suggests that an increased copy number of maternally derived alleles contributes to autism susceptibility. (
  • Notably, nonimprinted, biallelically expressed genes within the interval also have been shown to be misexpressed in brains of patients with chromosome 15q11.2-q13 genomic disorders, indicating that they also likely play a role in the phenotypic outcome. (
  • Over the past 20 years the human genome project has produced a series of tools for the study of genetic diseases. (
  • This achievement represents a major milestone for the Human Genome Project because it provides a key tool needed to interpret the human sequence, a draft version of which was published last year. (
  • Over the last 50 years, scientists from Lawrence Livermore National Laboratory's (LLNL) Biosciences and Biotechnology Division (BBTD) have changed the world by being instrumental researchers on the Human Genome Project, developing high-tech devices to sort cells and analyze DNA and providing the science for federal programs to defend the nation from biological weapons. (
  • It's why we've been able to help develop such things as chromosome painting, biological accelerator mass spectrometry , The Human Genome Project and systems for monitoring for the release of biological agents. (
  • Initially funded by Congress in 1991, the Human Genome Project has been busily developing new technology and drawing detailed road maps of the 23 human chromosomes, but is just getting started on its ultimate task: determining the exact order of the 3 billion pairs of DNA building blocks present in the nucleus of every human cell. (
  • The Human Genome Project is a historic 15-year research endeavor with the goal of producing detailed maps of the 23 pairs of human chromosomes and sequencing the 3 billion nucleotide bases that make up the human genome. (
  • Last Fall we celebrated the fifth anniversary of the Human Genome Project with a record of excellent progress toward our goals. (
  • The most challenging goal of the Human Genome Project is to sequence the entire 3 billion nucleotides that comprise the human genome. (
  • This year we are embarking on this ambitious and exciting phase of the Human Genome Project. (
  • When the Human Genome Project started, even the best laboratory could only produce a few hundred thousand basepairs per year. (
  • The information, tools and resources generated by the Human Genome Project are quickly disseminated to and utilized by researchers across the United States and throughout the world. (
  • All of the information from the Human Genome Project is placed in public electronic databases which are accessed by researchers over 150,000 times each week. (
  • The tools and technology created by the Human Genome Project are being used by scientists to help in their discovery of the genes associated with disease. (
  • Therefore, there were three institutions that divided the 14 chromosomes among themselves in the Malaria Genome Project. (
  • Proc Natl Acad Sci U S A. 2000 Feb 15;97(4):1612-7. (
  • Genes Chromosomes Cancer 27:252-263, 2000. (
  • Researchers from Lawrence Berkeley, Lawrence Livermore, and Los Alamos national laboratories at the Joint Genome Institute announced in 2000 they had decoded in draft form the genetic information of human chromosomes 5, 16, and 19. (
  • or whether the nucleic acid sequence of interest is localized in the chromosomes, nucleus, or cytoplasm of a cell. (
  • Chromatin The network of chromosomes, histones, and other proteins found in the eukaryotic nucleus during interphase. (
  • Chromosomes are found in the nucleus of all body cells. (
  • A distinguishing characteristic of eukaryotes, the nucleus contains the genetic information ( genome ) of the cell in the form of its chromosomes. (
  • It is within the nucleus that the DNA in the chromosomes is duplicated prior to cell division and where the RNAs are synthesized. (
  • After the chromosomes have segregated to the new daughter cells, the nucleus and its components must be rebuilt. (
  • Although the chromosomes of a nucleus appear as a diffuse network in the electron microscope, they are highly compacted into nucleosomal units. (
  • The heterochromatin of any given chromosome is found within its territory close to the nuclear envelope (Figure 1), but can often project into the interior of the nucleus as patches and/or surround the nucleolus. (
  • A nucleus contains your genetic material and is arranged into chromosomes. (
  • The human cell nucleus contains 23 pairs of chromosomes. (
  • Telomerase is active in germline cells and, in humans, telomeres in these cells are maintained at about 15 kilobase pairs (kbp). (
  • They consist of tandemly repeated non-coding short nucleotide sequences (TTAGGG in all vertebrates), in humans spanning over the last 2 to 15 kilobase pairs of the chromosome. (
  • An isodicentric chromosome contains mirror-image segments of genetic material and has two constriction points (centromeres), rather than one centromere as in normal chromosomes. (
  • Until one centromere becomes inactivated the new chromosome will have two active centromeres (dicentric). (
  • Our fusion chromosome contains remnants of telomeres at the fusion point and it has another centromere-like region at just the right position. (
  • FISH probes revealed that in all cases, save the Hulk, the γ-chromosome was associated with the centromere of the X-chromosome. (
  • Chromosome 15 likely contains 600 to 700 genes that provide instructions for making proteins. (
  • 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 ). (
  • Membrane-bounded organelle common to all eukaryotic cells that contains and separates the genetic material (DNA and associated proteins organized into chromosomes) from the remainder of the cell (the cytoplasm). (
  • UNC0638 and UNC0642 work by inhibiting the activity of a protein called G9a, which together with other proteins packs the maternal genes tightly in the chromosome. (
  • Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions. (
  • These genes produce proteins which in turn carry out a large variety of often complex functions in the human body. (
  • The human genome contains roughly 23,000 pairs of proteins that code or produce proteins. (
  • Each chromosome is specifically anchored through its telomeres to a discrete place on the nuclear envelope by the proteins of the nuclear lamina. (
  • First, the success rates for recombinant expression of human proteins in bacteria are normally relatively low ( 11 ). (
  • Proteins of the DNA repair machinery could influence the pairing and/or translocation process. (
  • It is well known that the usual banding procedures (C-, G-, R- and T-) reveal the underlying structure and composition of DNA and associated proteins in mitotic chromosomes (Therman and Susman, 1993). (
  • People normally have two copies of this chromosome. (
  • Two copies of chromosome 15, one copy inherited from each parent, form one of the pairs. (
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 15. (
  • In people with an isodicentric chromosome 15, cells have the usual two copies of chromosome 15 plus the two duplicated copies of the segment of genetic material in the isodicentric chromosome, for a total of four copies of the duplicated segment. (
  • In these cases, cells have two copies of chromosome 15, one of which has an extra copy of the segment of genetic material, for a total of three copies of the duplicated segment. (
  • Their daughter had two rare disorders, Angelman syndrome and P450scc deficiency, which was detected after researchers found out she had uniparental disomy, two copies of chromosome 15 from one parent and none from another. (
  • Noticeably in addition to three copies of X chromosomes, there were paired Xq+ and a single Xp+ in most cells. (
  • The scientists estimate that there is a 40 per cent increase in lifetime risk for women carrying the DNA variation on both copies of chromosome nine compared with someone who doesn't carry it on either chromosome. (
  • Approximately 15 per cent of women in the UK population carry two copies of the variant DNA. (
  • People normally have two copies of this chromosome in each cell, one copy from each parent. (
  • In about 25% of cases, a person with Prader-Willi syndrome has two maternal copies of chromosome 15 in each cell instead of one copy from each parent. (
  • Because some genes are normally active only on the paternal copy of this chromosome, a person with two maternal copies of chromosome 15 will have no active copies of these genes. (
  • Normal human haemoglobin consists of a tetramer of 2 pairs of globin polypeptide chains, 1 pair of alpha-like chains and 1 pair of non-alpha chains, each of which contains a haem group. (
  • The nucleotides on the DNA strand pair naturally with their counterparts, with the exception that RNA uses the nucleotide base uracil (U) instead of thymine (T). Transcription results in a single strand RNA molecule, known as pre-RNA, whose nucleotides form an inverse image of the DNA strand from which it was created. (
  • The Ad insert was shown to consist of a colinear segment from nucleotides 1 to 4344 integrated into chromosome 19 (19q13.2). (
  • [3] Plasmodium falciparum has an average recombination distance of ~15 kb per centimorgan: markers separated by 15 kb of DNA (15,000 nucleotides) have an expected rate of chromosomal crossovers of 0.01 per generation. (
  • Claim 6: An isolated DNA coding for a BRCA1 polypeptide, said polypeptide having the amino acid sequence set forth in SEQ ID NO:2, wherein said DNA has the nucleotide sequence set forth in SEQ ID NO:1, and having at least 15 nucleotides of the DNA of claim 2. (
  • However, some genes on this chromosome, including some of those in the 15q11.2-q13.1 region, are turned on (active) only on the maternal copy. (
  • In such cases, the parents of the affected child usually have normal chromosomes and a relatively low risk of having another child with the chromosomal abnormality. (
  • 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. (
  • NEW YORK (GenomeWeb News) - A team of researchers from the Broad Institute have published a proof-of-principle study showing that they can fill in some of the remaining sequence gaps in the human genome using Roche 454 sequencing. (
  • In a paper appearing online in Genome Biology today, the researchers demonstrated that while some gaps in the human genome are a consequence of structural variation, others reflect low complexity sequence that's difficult or impossible to clone into bacteria. (
  • Using 454 sequencing, which doesn't require this cloning step, the team was able to generate sequence covering the chromosome 15 gaps . (
  • For instance, in their previous finishing and analysis of chromosome 15, the team noticed that, despite chromosome 15's small size, its sequence was far from complete. (
  • The current version of chromosome 15 contains nine sequence gaps, including three that don't seem to coincide with copy number variations. (
  • When the researchers examined the 454 reads used to construct the Watson genome, they found that there was a bit of sequence that corresponded to chromosome 15 gap regions, though not enough to cover any of the gaps. (
  • These sequences are missing from the Watson genome, Garber explained, because that genome was not assembled from scratch but based on previous human genome sequence. (
  • The new approach offers a potential avenue for filling in "Type III" gaps in the human genome, which consist of unique euchromatin sequence gaps but is not aimed at "Type I" sub-telomeric gaps or "Type II" duplicated euchromatin gaps. (
  • The mouse sequence is much further along in the process than the human sequence was at the draft stage,' said Francis S. Collins, M.D., Ph.D., director of the National Human Genome Research Institute (NHGRI). (
  • Having this advanced draft of the mouse sequence will greatly accelerate precise identification of the genetic contributors to those illnesses, leading to better understanding of human disease and improved tests and treatments. (
  • The mouse sequence will also allow researchers to recognize functionally important regulatory elements in the human genome by virtue of the fact that they are conserved through the 100 million years of evolution separating humans and mice. (
  • The draft sequence shows the order of the DNA chemical bases A, T, C and G along the mouse chromosomes. (
  • We are now working hard with an international group of experts to explore the content of the sequence and to use it to improve our understanding of the human sequence. (
  • When complete, the knowledge contained in the human sequence promises to be a great boost to science and medicine, genome researchers say. (
  • Evidence for a fusion of two of these ancestral chromosomes into a single chromosome 2 in humans has been well supported by genome sequence data. (
  • Though we look forward to the first complete DNA sequence of the human genome with great anticipation, we do not have to wait until the end of the project to reap its benefits. (
  • The chromosome-by chromosome method was preferred instead of trying to sequence the entire genome by the shotgun method. (
  • The first biobank in Australia aiming to improve research and treatments into rare genetic diseases caused by changes to genes on chromosome 15, including Prader-Willi Syndrome and Angelman Syndrome, will be established at the Murdoch Children's Research Institute. (
  • One in every 15,000 children is affected by Prader-Willi syndrome (PWS), a complex, genetic endocrine condition caused by a disorder of chromosome 15. (
  • Prader-Willi syndrome is caused by the loss of active genes in a specific part of chromosome 15, the 15q11-q13 region. (
  • During mitosis, DNA is condensed into visible chromosomes (prophase) that arrange at the cell midplane (metaphase), separate (anaphase), and decondense into the interphase. (
  • One of the common objections is that the new fusion chromosome would screw up mitosis and meiosis because it would initially have two centromeres. (
  • Previous research using microdensitometric scanning and computer graphic image analysis showed that T-banded segments of human metaphase chromosomes usually exhibit an asymmetrical distribution of high density (HD) chromatin between sister chromatids. (
  • Here, we employed the same methods to analyze HD chromatin distribution at opposite ends of T-banded human lymphocyte chromosomes. (
  • This study revealed that in most chromosomes with an asymmetrical distribution of HD chromatin at both ends, the highest densities of each arm were located in opposite chromatids. (
  • The frequency of this configuration was 0.792 per chromosome, indicating that the highest chromatin densities of the terminal segments of T-banded human chromosomes were non-randomly distributed at opposite chromosome arms. (
  • Microdensitometric scanning and computer graphic image analysis of high-resolution microphotographs of T-banded segments of human and Chinese Hamster Ovary (CHO) chromosomes allowed the detection of a differential distribution of HD sub-telomeric chromatin between sister chromatids. (
  • These patterns were confirmed by scanning T-banded endoreduplicated CHO chromosomes in which the same interchromatid distribution of HD chromatin appeared in both sister chromosomes (Drets and Mendizábal, 1998). (
  • Nevertheless, quantitative computerized microdensitometrical analyses on the distribution of HD chromatin at opposite ends of T-banded chromosomes have not yet been reported. (
  • Therefore, we performed microdensitometric scanning and computer graphic image analysis to study HD chromatin distribution at T-banded human chromosomes that showed asymmetry at opposite ends. (
  • When the chromosomes reach the mitotic poles, the nuclear envelope reforms while chromatin decondenses to form chromosome territories (for a review, see Cremer and Cremer, 2001 ). (
  • Duplication of a region of the long (q) arm of chromosome 15 can result in 15q11-q13 duplication syndrome (dup15q syndrome), a condition whose features can include weak muscle tone (hypotonia), intellectual disability, recurrent seizures (epilepsy), characteristics of autism spectrum disorder affecting communication and social interaction, and other behavioral problems. (
  • The most common chromosome abnormality that leads to 15q11.2-q13.1 duplication, occurring in about 80 percent of people with dup15q syndrome, is called an isodicentric chromosome 15. (
  • People with dup15q syndrome resulting from an interstitial duplication often have milder signs and symptoms than those in whom the disorder results from an isodicentric chromosome 15. (
  • Duplicated chromosome segments suggest that a genome duplication occurred in ray-fin phylogeny, and comparative studies suggest that this event happened deep in the ancestry of teleost fish. (
  • Despite genome duplication, zebrafish and humans have about the same number of chromosomes, and zebrafish chromosomes are mosaically orthologous to several human chromosomes. (
  • We document that the expansion of Nat CS genes occurs as duplicated blocks distributed across 10 of the 19 poplar chromosomes, likely only as a result of segmental duplication events. (
  • The amplified regions of chromosome 1 contain mouse lung susceptibility loci. (
  • To date, over 30 non-MHC RA-associated loci have been identified in humans, and over 100 arthritis-associated loci have been identified in rodent models of RA. (
  • Analysis of Mutation Rate of 17 Y-Chromosome Short Tandem Repeats Loci Using Tanzanian Father-Son Paired Samples. (
  • It is defined as the distance between chromosome positions (also termed loci or markers ) for which the expected average number of intervening chromosomal crossovers in a single generation is 0.01. (
  • In most cases, Chromosome 15, Distal Trisomy 15q is due to a chromosomal balanced translocation in one of the parents. (
  • In addition, a few cases have been reported in which Chromosome 15 Ring has been the result of a "balanced translocation" in one of the parents. (
  • Chromosomal analysis and genetic counseling are typically recommended for parents of an affected child to help confirm or exclude the presence of Chromosome 15 Ring, potential mosaicism, or a balanced translocation in one of the parents. (
  • p. 660 ) used ultrahigh-throughput time-lapse imaging on human tissue culture cells containing marked chromosomes to capture very rare translocation events. (
  • Translocations form preferentially between prepositioned genome elements, and perturbation of key factors of the DNA repair machinery uncouples DSB pairing from translocation formation. (
  • There is, however, evidence consistent with a much more recent arrival, within the post-Babel time frame (Creation 15(3): 48-50, 1993). (
  • Isolated trisomy 15: a clonal chromosome abnormality in bone marrow with doubtful hematologic significance. (
  • We identified 18 patients with an isolated bone marrow clonal chromosomal abnormality, trisomy 15 (with or without -Y), who did not have any morphologic or clinical features of hematologic disease at initial examination. (
  • Clonal trisomy 15 in isolation or in combination with -Y is an uncommon cytogenetic finding that does not seem to be associated with definitive morphologic or clinical features of MDS or any other malignant process. (
  • 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 ). (
  • Indirect immunofluorescence studies of cultured cells using antisera specific to human βIII spectrin reveal a Golgi-associated and punctate cytoplasmic vesicle-like distribution, suggesting that βIII spectrin associates with intracellular organelles. (
  • Chromosome 15, Distal Trisomy 15q is an extremely rare chromosomal disorder in which the end (distal) portion of the long arm (q) of the 15th chromosome (15q) appears three times (trisomy) rather than twice in cells of the body. (
  • Normal human cells undergo a finite number of cell divisions and ultimately enter a nondividing state called replicative senescence. (
  • To test this hypothesis, two telomerase-negative normal human cell types, retinal pigment epithelial cells and foreskin fibroblasts, were transfected with vectors encoding the human telomerase catalytic subunit. (
  • The ability to maintain normal human cells in a phenotypically youthful state could have important applications in research and medicine. (
  • We recently demonstrated that telomerase activity can be reconstituted by transient expression of hTRT in normal human diploid cells, which express low levels of the template RNA component of telomerase (hTR) but do not express hTRT ( 18 ). (
  • Hiw do humans inherit the chromosomes stored in their cells? (
  • What kind of cells would only have ½ the number of chromosomes? (
  • in 1902, the Boveri-Sutton Chromosome Theory unified the genetic laws of Mendelian inheritance with the physical structures of chromosomes observed in cells? (
  • Pallister-Killian syndrome is a rare congenital genetic disorder that cannot be detected through prenatal blood tests because it occurs only in the chromosomes of skin cells ? (
  • A chromosome is an organized structure of DNA and protein that is found in cells . (
  • In addition, in some cases, only a certain percentage of an individual's cells may contain Chromosome 15 Ring, while other cells may have a normal chromosomal makeup (a finding known as "chromosomal mosaicism"), potentially affecting the variability of associated symptoms and findings. (
  • The modal chromosome number was 64, occurring in 30% of cells. (
  • er(12)t(8;12) (q22;p13) and four other marker chromosomes were common to most cells. (
  • The der(1)t(1;15) (q42;q13), der(19)t(3;19) (q12;q13), der(12)t(8;12) (q22;p13), and four other marker chromosomes were common to most cells. (
  • Add 2.0 to 3.0 mL of Trypsin-EDTA solution to flask and observe cells under an inverted microscope until cell layer is dispersed (usually within 5 to 15 minutes). (
  • Normal human reproductive cells have 23 chromosomes. (
  • The sex cells are different from ordinary cells bcause they have only 23 chromosomes. (
  • When people produce sperm or egg cells their pairs of chromosomes separate and go into different cells. (
  • Chromosome translocations are a hallmark of cancer cells. (
  • 14). In human cells there are 22 pairs of autonomic chromosomes and two sex chromosomes. (
  • Nucleolus cycle in human cells. (
  • Plasmodium falciparum , the causative agent of malaria , lives in human red blood cells . (
  • These sex cells contain only one set of chromosomes that combine during conception and create an embryonic cell with two chromosome sets, one from each parent. (
  • The nuclei of cells in human bodies have 46 chromosomes made out of 23 pairs. (
  • Egg and sperm cells in humans have 23 chromosomes which fuse and divide to create an embryo. (
  • Treatment of normal cells with γ-radiation caused a dissociation of the γ- from the X-chromosome. (
  • Interestingly, T24T has acquired 4 new structural changes, 3 of which [add(10)(p12), i(10)(q10), -15] have been observed in loss of heterozygosity (LOH) studies of tumor progression in human TCC. (
  • Allelotype analysis of whole chromosomes showed that loss of heterozygosity (LOH) on 13q was exclusively associated with lymph node metastasis and poor prognosis in esophageal squamous cell carcinoma (ESC). (
  • 1998 ). The loss of the Y chromosome in these two genera can be considered as independent events because Ellobius and Tokudaia belong to different subfamilies, to Arvecolinae and Murinae, respectively. (
  • The genome of the nuclear chromosome 2 and chromosome 3 were sequenced in 1998 and 1999 respectively. (
  • 1998 May 27;15(5):281-284. (
  • Identifying genes on each chromosome is an active area of genetic research. (
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (
  • The greatest worry many scientists have is that human clones-even if they don't have monstrous abnormalities in the womb-will need hip replacements in their teenage years and perhaps develop senile dementia by their 20th birthday. (
  • However, female carriers show higher rates of abnormalities during meiosis, which can potentially cause chromosome imbalances and birth defects, the researchers discovered. (
  • Chromosome 15 likely contains between 650 and 1,000 genes. (
  • Interestingly, the X chromosome has about 1,000 genes, roughly 10 times more than the Y chromosome. (
  • For instance, in the case of some flowers, the allele on one chromosome may produce a red petal color and the other a white petal color. (
  • The two chromosomes in a pair are never identical because they have different allele. (
  • 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. (
  • The fraction of locus pairs within these intervals that display small Fisher's exact test (FET) probabilities is directly proportional to the inverse of recombination distance between them (1/cM). (
  • 4. The method according to claim 1, wherein the cellular material is a metaphase chromosome. (
  • Korenberg J. R. & Rykowski, M. C. Human genome organization: Alu, lines, and the molecular structure of metaphase chromosome bands. (
  • Evidence suggests that the clinical features seen in Chromosome 15 Ring appear to result from deletions of genetic material from the long arm (q) of chromosome 15 (known as "monosomy 15q"), with the ring chromosome typically replacing a normal 15th chromosome. (
  • Humans have 46 chromosomes, 22 pairs of autosomes (the non-sex chromosomes), and the sex chromosomes either XX (females) or XY (males). (
  • They differ from autosomes in many ways, one of which is that for males, the pairs differ in size and shape. (
  • While the researchers aren't planning to tackle these gaps themselves, Garber said he and his co-workers decided to publish their chromosome 15 results in case the findings prove useful for those involved in such efforts. (
  • This information will allow researchers to gain insights into the function of many human genes because the mouse carries virtually the same set of genes as the human but can be used in laboratory research. (
  • Writing in the science journal Nature, the researchers at 15 institutions described how they compared the genetic blueprint of the boxer with 10 other breeds. (
  • The so-called "Manhattan Project of Biology," the project will involve hundreds of researchers, some of the nation's top scientific minds and a projected $3 billion in federal money, spread over 15 years. (
  • The establishment of the human methylome during fetal development coincides with early immune development relevant to IgE-mediated allergic sensitization and makes DNA methylation in cord blood a potential early molecular marker of IgE-mediated disease onset. (
  • Translocations occur when regions of certain chromosomes break off and are rearranged, resulting in shifting of genetic material and an altered set of chromosomes. (
  • Chromosome translocations arise through the illegitimate pairing of broken chromosome ends and are commonly found in many cancers. (
  • Most paired ends arose from breaks in close proximity, but occasionally translocations formed from more distantly positioned breaks. (
  • An experimental system allows the visualization of human cell chromosome translocations in real time. (
  • Find this article online O'Keefe RT, Henderson SC, Spector DL (1992) Dynamic organization of DNA replication in mammalian cell nuclei: Spatially and temporally defined replication of chromosome-specific alpha-satellite DNA sequences. (
  • promyelocytic leukemia protein (involved in t(15,17) with RARalpha, predominant cause of acute promyelocytic leukemia. (
  • Distinct patterns of protein kinase expression were seen in the two trisomic groups, including dosage-dependent over-expression of the chromosome 16-encoded ERK1 in trisomy 16 . (
  • Chromosomes of higher organisms ( eukaryotes ) contain DNA and protein. (
  • Here we show that an affinity proteomics strategy using affinity-purified antibodies raised against recombinant human protein fragments can be used for chromosome-wide protein profiling. (
  • The genes of human chromosome 21 identified by the genome efforts were investigated, and the success rates for de novo cloning, protein production, and antibody generation were 85, 76, and 56%, respectively. (
  • These chromosomes contain information for protein synthesis. (
  • Genome-wide association studies and integrative genomics approaches in COPD have demonstrated significant associations with SNPs in the chromosome 15q region that includes CHRNA3 (cholinergic nicotine receptor alpha3) and IREB2 (iron regulatory binding protein 2).We investigated whether SNPs in the chromosome 15q region would be modifiers for lung function and COPD in AAT deficiency. (
  • To test this hypothesis, we evaluated the expression of mRNAs for PV, another calcium-binding protein, calretinin (CR), and glutamic acid decarboxylase (GAD 67 ) in postmortem brain specimens from 15 pairs of subjects with schizophrenia and matched control subjects using single- and dual-label in situ hybridization. (
  • A similar approach may be useful for studying complex control regions surrounding many other genes important in embryonic development and human disease. (
  • In most cases, Chromosome 15 Ring appears to be caused by spontaneous (de novo) errors very early in embryonic development. (
  • It can uniquely help us understand embryonic development, neurobiology, human disease and the basis of evolution," Lander said. (
  • Purpose: Single-cell nested polymerase chain reaction (PCR) and Dde I endonuclease digestion were used to detect the presence of a Marfan's syndrome mutation in human preimplantation embryos derived from in vitro fertilization (IVF). (
  • Single blastomeres were removed from embryos and subjected to nested PCR analysis and endonuclease digestion to detect a Marfan's syndrome mutation located on chromosome 15 inherited from the father Results: Thirteen oocytes were injected with spermatozoa using intracytoplasmic sperm injection, and nine fertilized normally. (
  • 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. (
  • Allosomes determine sex in the human species, and all sex characteristics in males and females are initiated by genes on the 23rd chromosome pair. (
  • Males have two of the same chromosomes (ZZ) and females have differing pairs (ZW). (
  • Sex determination in mammals is chromosomally controlled with males and females carrying the XY and XX sex chromosomes, respectively. (
  • Research and application of Y-chromosome short tandem repeats (Y-STRs) have proven beneficial in a number of fields including paternity, anthropology, and genealogical studies [1]. (
  • a researcher at the University of Minnesota College of Biological Sciences discovered that the linear arrangement of genes on a chromosome corresponds to the development of body segments in fruit flies ? (
  • Indeed, this early description of DNA may have been the scientific understatement of the century, evolving into the most ambitious, biological undertaking in history: the decoding of human chromosomes. (
  • During this study, buccal swab samples were collected from consented father-son paired samples whose biological relationship was confirmed by autosomal STRs using AmpFlSTR Identifiler kit [8]. (
  • The human DNA is a biological Internet and superior in many aspects to the artificial one. (
  • The homologous linkage groups on human chromosomes 1 q32-41 and 2q are likewise altered in invasive human lung cancer. (
  • Increased copy number and expression of genes on mouse chromosome 1 may playa functional role in lung cancer development and may aid in identifying unique lung cancer biomarkers as well as susceptibility genes in mouse and human. (
  • Genetic and phenotypic changes associated with the acquisition of tumorigenicity in human bladder cancer. (
  • Genes Chromosomes Cancer. (
  • There has been a general lack of human paired cell lines that both reproduce the in vivo spectrum of tumor progression of bladder cancer and have some of the genetic changes associated with progression in human tumor tissue. (
  • T24, a cell line established from an invasive human transitional cell carcinoma (TCC) of the bladder, has been used extensively in bladder cancer research. (
  • It appears that the T24/T24T model may be an excellent tool for the study of human TCC progression because of its relationship with known karyotypic changes associated with human bladder cancer progression. (
  • For most human illnesses, from cancer to autoimmune disease, important insights have come from the study of mouse models. (
  • Senior author Dr Simon Gayther, whose work is supported by Cancer Research UK and The Eve Appeal charity which fundraises for the gynaecological cancer research team based at UCL, said: "The human DNA blueprint contains more than 10 million genetic variants. (
  • We demonstrate association between smoking quantity and markers in the chromosome 15q25 region across all three populations, and narrow the region of association. (
  • In addition to sequencing the DNA of a number of lower research organisms, they are rapidly identifying unique genetic markers along the entire length of human DNA--the equivalent of mile markers along a highway--which facilitate the discovery of interesting new genes, including those associated with elusive human diseases. (
  • Recently, a team of scientists published a physical map of the human genome composed of over 15,000 well-ordered markers, and covering approximately 94 percent of the genome. (
  • The risk for women carrying the variation on both chromosomes is 14 in 1000 - compared with ten in 1000. (
  • Human Apolipoprotein B Transgenic Mice Generated with 207- and 145-Kilobase Pair Bacterial Artificial Chromosomes. (
  • Whole Genome Shotgun Sequencing (WGSS) was subsequently performed on the Hulk, from which chromosome γ was assembled and Bacterial Artificial Chromosomes (BAC) were created. (
  • Chromosome 3q arm gain linked to immunotherapy response in advanced cutaneous squamous cell carcinoma. (
  • Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (
  • There are three billion bases in one human genome and each cell in our body has double this number. (
  • How many chromosomes does a human body cell have? (
  • When the gametes of the parents, each containing half the chromosomes of a normal human body cell, fuse together, a cell is formed with a full set of chromosomes, half from each parent. (
  • Then the chromosomes line up in the centre of the cell and it begins to divide. (
  • The amplification of chromosome 1 at band C4 and E1/2- H1 were the most significant chromosomal changes in the high-invasive cell strains. (
  • We are currently taking advantage of these paired cell lines to identify genes involved in human TCC progression. (
  • Every time a cell divides, the nuclear envelope must break down to release the recently duplicated chromosomes. (
  • This is a hypotriploid human cell line. (
  • Once the child is conceived, either male or female, then every single somatic cell in the human body gets a copy of the sex chromosomes. (
  • How many pairs of chromosomes are present in a human cell? (
  • Moreover, they have generated new ideas about cell cycle control of nucleolar assembly, the dynamics of the delivery of the RNA processing machinery, the formation of prenucleolar bodies, the role of precursor ribosomal RNAs in stabilizing the nucleolar machinery and the fact that nucleolar assembly is completed by cooperative interactions between chromosome territories. (
  • However, deletions in AS occur on the maternally inherited chromosome 15, and deletions in PWS occur on the paternally derived chromosome 15. (