Chromosomes: 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)Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Chromosome Banding: 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.X Chromosome: 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.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Sex Chromosomes: 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)Chromosomes, Human, Pair 1: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Human: 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.Chromosomes, Bacterial: Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosome Segregation: The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.Chromosomes, Human, Pair 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 11: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 17: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 6: A specific pair GROUP C CHROMSOMES of the human chromosome classification.Chromosome Deletion: Actual loss of portion of a chromosome.Chromosomes, Human, Pair 9: A specific pair of GROUP C CHROMSOMES of the human chromosome classification.Chromosomes, Human, Pair 21: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosomes, Plant: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.Chromosomes, Fungal: Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosomes, Human, 6-12 and X: 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.Chromosomes, Human, Pair 2: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Human, Pair 16: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosome Pairing: The alignment of CHROMOSOMES at homologous sequences.Chromosomes, Human, Pair 13: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Mammalian: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.Chromosomes, Human, Pair 4: A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 10: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 19: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 8: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Y: The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.Chromosome Disorders: 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)Chromosomes, Artificial, Bacterial: 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.Chromosomes, Human, Pair 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 5: One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).Chromosomes, Human, X: The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.Chromosome Painting: 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.Chromosomes, Human, 1-3: The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.Chromosomes, Human, Pair 15: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Karyotyping: Mapping of the KARYOTYPE of a cell.Chromosomes, Human, Pair 14: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 18: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 20: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.In Situ Hybridization, Fluorescence: 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.Chromosomes, Human, 16-18: The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.Chromosomes, Artificial, Yeast: 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.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Chromosomes, Human, 13-15: The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.Chromosome Breakage: A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.Chromosomes, Human, 21-22 and Y: 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.Molecular Sequence Data: 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.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Ring Chromosomes: Aberrant chromosomes with no ends, i.e., circular.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Chromosome Inversion: 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.Chromosome Positioning: The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.Chromosomes, Human, 4-5: The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.X Chromosome Inactivation: 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.Centromere: 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.Meiosis: 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.Chromosomes, Insect: Structures within the CELL NUCLEUS of insect cells containing DNA.Translocation, Genetic: A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.Hybrid Cells: 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.Chromosome Structures: Structures which are contained in or part of CHROMOSOMES.Chromosomes, Human, 19-20: The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.Aneuploidy: 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).Metaphase: 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.Mitosis: 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.Recombination, Genetic: 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.Mutation: 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.Microsatellite Repeats: 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).Lod Score: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."Pedigree: 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.Crosses, Genetic: 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.Cloning, Molecular: 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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.DNA: 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).Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Amino Acid Sequence: 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.Nucleic Acid Hybridization: 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)Models, Genetic: 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.Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Nondisjunction, Genetic: 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.Kinetochores: Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.Chromosomes, Artificial, Human: 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.Telomere: 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.Blotting, Southern: 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.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Genes: 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.Chromosome Walking: 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.Polymerase Chain Reaction: 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.Chromosomal Proteins, Non-Histone: 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.Haplotypes: 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.Repetitive Sequences, Nucleic Acid: 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).Spindle Apparatus: 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.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Chromosomal Instability: An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Chromosome Fragility: Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.DNA Probes: 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.Chromosome Duplication: An aberration in which an extra chromosome or a chromosomal segment is made.DNA, Satellite: 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.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.Diploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.Plasmids: 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.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Chromatids: 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)Multigene Family: 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)Genetic Variation: Genotypic differences observed among individuals in a population.DNA-Binding Proteins: 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.Mosaicism: 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.DNA Replication: The process by which a DNA molecule is duplicated.Polyploidy: The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.Abnormalities, MultipleDNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Gene Deletion: 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.Polymorphism, Genetic: 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.Species Specificity: 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.Sequence Homology, Nucleic Acid: 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.Polytene Chromosomes: Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.Escherichia coli: 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.Nuclear Proteins: 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.Gene Dosage: 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.Prophase: 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.Interphase: 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).Cell Cycle Proteins: 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.Saccharomyces cerevisiae: 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.Loss of Heterozygosity: 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.Karyotype: 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)Cosmids: Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Cytogenetic Analysis: 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.Chromatin: 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.Cytogenetics: 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.Transcription, Genetic: The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.Genome, Human: 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.Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.Polymorphism, Restriction Fragment Length: 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.Cell Line: Established cell cultures that have the potential to propagate indefinitely.DNA Transposable Elements: 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.DNA Primers: 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.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Chromosome Fragile Sites: 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.)Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Sequence Tagged Sites: 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.Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.Spermatocytes: 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.Monosomy: The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.Genes, X-Linked: Genes that are located on the X CHROMOSOME.Sex Chromosome Disorders: 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, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.Sequence Alignment: 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.Cell Nucleus: 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, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Genes, Bacterial: The functional hereditary units of BACTERIA.Azure Stains: PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.Contig Mapping: Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.DNA Restriction Enzymes: 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.Homozygote: An individual in which both alleles at a given locus are identical.Philadelphia Chromosome: 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).Chromosome Breakpoints: The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.Gene Duplication: Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.Exons: 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.Chromosomes, Archaeal: Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.Haploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.Ploidies: The degree of replication of the chromosome set in the karyotype.Genetic Loci: 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.Hybridization, Genetic: The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.Drosophila: 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.Genome, Plant: The genetic complement of a plant (PLANTS) as represented in its DNA.Base Pairing: Pairing of purine and pyrimidine bases by HYDROGEN BONDING in double-stranded DNA or RNA.Gene Amplification: 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.DNA, Fungal: Deoxyribonucleic acid that makes up the genetic material of fungi.Genomic Imprinting: 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)Sex Chromatin: 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, Lethal: 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, Neoplasm: DNA present in neoplastic tissue.DNA, Complementary: 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.Histones: 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.Intellectual Disability: 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)Microtubules: 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.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Syndrome: A characteristic symptom complex.Pachytene Stage: The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.DNA, Plant: Deoxyribonucleic acid that makes up the genetic material of plants.Sister Chromatid Exchange: 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.Bacterial Proteins: Proteins found in any species of bacterium.Chromosomes, Artificial: 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, Messenger: 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.Gene Library: 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.Nucleic Acid Conformation: The spatial arrangement of the atoms of a nucleic acid or polynucleotide that results in its characteristic 3-dimensional shape.Introns: 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.Quantitative Trait, Heritable: A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)Triticum: 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, Y-Linked: Genes that are located on the Y CHROMOSOME.Biological Evolution: The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.Euchromatin: Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.Genomic Library: 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).Sex Determination Processes: The mechanisms by which the SEX of an individual's GONADS are fixed.

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 ...
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. ...
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.
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 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...
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.
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 ...
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:. ...
We offer clinical cancer updates, treatment guidance, and research news to the oncology nursing community. Visit us often for drug therapy testing results, patient care information and more. Download our FREE app today.
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 ...
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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: http://www.angelman.org
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 Encyclopedia.com. 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 ...
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.. ...
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
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 ...
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 ...
Amount: $265,616. Dr Ingrid Macindoe, under the supervision of Professor Joel Mackay, has entered the second year of a FAST-funded project at the University of Sydney. The team are investigating the role of the UBE3A antisense transcript in silencing paternal UBE3A, using the genome-editing tool CRISPR/Cas9 to make alterations to the antisense transcript and study the effects on UBE3A expression in neurons. They aim not only to uncover the mechanism by which UBE3A is silenced, but also to identify proteins that play a role in this silencing process by interacting with the antisense transcript. Any such proteins could be potential targets for therapeutics.. Ingrid has now successfully finalised the first portion of the project and made cell lines that have a large deletion in one allele of chromosome 15, intended to mimic Angelman Syndrome. She has used Neuro2A cells, a mouse-derived neuroblastoma cell line that grows easily and can be differentiated chemically into neuron-like cells. She is ...
Angelman syndrome (AS) is a behavioural disorder characterised by seizures, severe developmental delay, absent speech and ataxia.
Characteristic Angelman syndrome signs and symptoms include:
  • Developmental delays, such as lack of crawling or babbling at 6 to 12 months
How might disruption of a single gene in the brain cause the severe cognitive deficits associated with Angelman syndrome, a neurogenetic disorder?
In two days, thats right, May 21st the Angelman Syndrome Foundation will have events across the United States. Every year, the number of locations is growing, and unlike my chrome dome, it shows the potential to be in even more spots with each changing of the calendar. Its not too late to go, and while you may not get your walk t-shirt as the deadline has passed, get your tail movin and get groovin. Thats right, get off your couch with that box of twinkies, walk a couple of miles, help a good cause, and get the best reward. This would be a hug from an angel. Years ago when I was devastated about my sons diagnosis, I got a hug from an angel named Dana. I cried so much on that first walk, but that hug brought nothing but smiles, the type that you cant get with any prize or anything else for that matter ...
Read about a new study which uses eye-tracking methods to learn more about how individuals with Angelman Syndrome react to social stimuli.
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Although every case of Prader-Willi syndrome is due to the baby failing to receive active genes from a specific section of the fathers chromosome 15, there are three different ways that this can happen: Paternal deletion - about 70% of all cases of PWS In the most common form of PWS, part of the chromosome 15 inherited from the childs father-the part containing the PWS critical genes-is missing. In some cases, the section that has disappeared (called a "deletion" or sometimes a "microdeletion") is large enough to be identified with high resolution chromosome studies done with a microscope; in other cases, it is too small but it can be detected with another chromosome test called FISH (see Tests Used To Diagnose Prader-Willi Syndrome). Typical or common deletions are now classified as Class/Type 1 or Class/Type 2, based on the size of the deletion. Usually a deletion happens for no known reason, and it is not likely to happen again in another pregnancy (less than 1% chance of recurrence). There ...
This morning Im celebrating! My son, my oldest, Chance, hes turning 12! I cannot believe it! First off, how in the world am I old enough to have a pre-teen! Second, this brings an annual bunch of mixed feelings due to his Angelman Syndrome. What is Angelman Syndrome? Chance was born with Angelman Syndrome, a…
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies. ...
Angelman Syndrome is caused by maternal deletion of chromosome 15q11-q13. Interestingly, duplication of this region is a high risk factor for Autism. We are using a mouse model to understand the mechanisms underlying the abnormalities in neural connectivity that take place during postnatal development. We are making cultures of the neurons from different brain regions, such as the hippocampus, a brain structure particularly important for learning and memory, and cortex, a brain structure important for cognition, to discover the protein expression and the brain circults that are altered in Angelman Syndrome.. While we do know the particular mutation, and the nature of the protein which is modified, we do not understand why this mutation produces impairment in synaptic plasticity. Although we dont know the mechanisms underlying the alterations in synaptic plasticity, we were recently able to reverse them by a short treatment of the mice with a drug, which had been previously shown to improve ...
Finding proteins or genes regulated by UBE3A that result in neurological defects is a daunting task. Unlike the analysis of mutants for a developmental pathway which exhibit obvious phenotypic endpoints, it is clear from phenotypic variability in both AS and duplication 15q autism, that disruption of UBE3A pathway members may result in subtle synaptic or biochemical changes in the brain that are difficult to detect. For example, loss of Ube3a results in a defect in neocortical plasticity, despite the fact that this mouse model is over ten years old. Just generating these AS animal models is not enough, one must also take maximum advantage of the particular strengths of these models. For example, behavior and neuroanatomical studies are more suited to the mouse model while genetic pathway and biochemical analysis is better suited to the fly model. This study uses a strictly biochemical approach for the identification of Dube3a targets in Drosophila. The study identifies a protein that not only ...
A Toronto girls lemonade-stand fundraiser to help find a cure for her brothers neurological disability has inspired a U.S. family dealing with the same illness.
Barb Bailus, PhD David Gurzick, PhD Hello Everyone, Over the next few weeks, we are going to be looking at the technology behind many of the gene therapy…
12:33, 20 June 2017 Homo sapiens:Prader-Willi and Angelman Syndrome‎ (Added a section for SNORD115. Also made some minor changes regarding the layout of the pathway.) ...
Low Forehead Symptom Checker: Possible causes include Prader-Willi Syndrome. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
I guess it started last week when I saw an adoption listing for a two and a half year old little girl with Prader-Willi Syndrome. She has spent her whole life in the hospital because she has no one to take care of her. Then I was watching Oprah, and this woman was bragging about giving up her country-club lifestyle by divorcing her husband and moving her kids to a shack in the woods. Isnt there a middle ground there somewhere? I know I shouldnt judge, but sometimes its really hard not to, but I have to remember, I am by no means exempt from judgment. So, Im still working on that plank in my eye. Maybe, if I can get it out, Ill be able to see more clearly why people make the choices that they make. ...
Lee, SY et al. (2014) Ube3a, the E3 ubiquitin ligase causing Angelman syndrome and linked to autism, regulates protein homeostasis through the proteasomal shuttle Rpn10. Cell. Mol. Life Sci. 71 2747-58 PubMed GONUTS page ...
My son is 17 years old and has Angelman Syndrome. Ive often wondered if he has difficulty in sight perception as he has difficulty negotiating steps,
His mum (Vicky) gives her insight along with dad (Paul) about their journey of seeing their little boy grow up with Angelman syndrome.
Greg Dohrmann, who owns and operates his familys insurance business, Dohrmann Insurance Agency in Stockton, has been named president of the board of The Angelman Syndrome Foundation.
01. 以非牟利方式為社會上不幸患上「天使綜合症」Angelman Syndrome,(前名「快樂木偶症」),的病人及其家庭提供關愛、治療機會、支援服務和協助。02. 為社會上不幸患上 ... 宗旨 ,OCC Forum
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Gabrb2 - Model 6507 C57BL/6 from Taconics GEM Collection. Genetically engineered mouse models for research. See the specs for these mice & start an order today.
In research focused on the approach and avoidance effect, people showed an approach effect for positive words.[42] In the "positive toward condition," participants moved positive words toward the center of the screen and negative words away. In the "negative toward condition," participants moved negative words toward the center and positive words away. Participants were given feedback about their accuracy at the end of each of the 4 experimental blocks. In the first experiment the word at the center of the screen had a positive valence, while in the second experiment the central word had a negative valence. In the third experiment, the center of the screen had an empty box.[42]. As predicted, in the first experiment participants in the "positive toward condition" responded significantly faster than those in the "negative toward condition."[42] This fits the approach/avoidance effect in embodied cognition, which states that people are faster to approach positive things and avoid negative ...
Clinicians have qualitatively described rhythmic delta activity as a prominent EEG abnormality in individuals with Angelman syndrome, but this phenotype has yet to be rigorously quantified in the clinical population or validated in a preclinical model. Here, we sought to quantitatively measure delta rhythmicity and evaluate its fidelity as a biomarker. We quantified delta oscillations in mouse and human using parallel spectral analysis methods and measured regional, state-specific, and developmental changes in delta rhythms in a patient population. Delta power was broadly increased and more dynamic in both the Angelman syndrome mouse model, relative to wild-type littermates, and in children with Angelman syndrome, relative to age-matched neurotypical controls. Enhanced delta oscillations in children with Angelman syndrome were present during wakefulness and sleep, were generalized across the neocortex, and were more pronounced at earlier ages. Delta rhythmicity phenotypes can serve as reliable
These recommendations are largely using the National Institute for Health insurance and Care Excellence (NICE) guideline Food allergy in children and young people. Since the features of cows milk protein allergy act like features of other conditions, a differential diagnosis is highly recommended based on the findings of the allergy-focused clinical history.. The GDG believed that the tests would be useful in confirming the diagnosis only if an effective history had been taken. The NICE GDG emphasized that allergy tests should only be completed after taking an allergy-focused clinical history.. Most children usually do not develop the opportunity to speak more than a few words. For example, a lot of people with Angelman syndrome may have seizures, others may not. People with Angelman syndrome wont have all the symptoms discussed below. The specific outward indications of Angelman syndrome change from individual to individual. Angelman syndrome is associated with a broad spectral range of ...
Angelman syndrome is a genetic condition characterized by a deletion of part of maternal chromosome 15 (15q11-13), which is associated with severe mental retardation, ataxic (uncoordinated) gait, tremulousness, and jerky movements. Although not yet fully studied, the critical region of the 15th chromosome contains several genes that code for GABA-A receptor subunits. The GABA-A receptor is the most common GABA receptor in the brain. GABA-A receptors regulate the flow of chloride ions (Cl-) across neuron membranes, which decreases neuron excitability. In Angelman syndrome, the lack of adequate GABA-A influence increases neuronal (CNS) excitability and results in myoclonic (muscle twitching) activity, which was reported to be significantly reduced in 5 patients by treatment with piracetam [Guerrini et al., 1966].. Guerrini R, De Lorey TM, Bonanni P et al. Cortical myoclonus in Angelman syndrome. Annals of Neurology 40(1): 39-48, 1996.. ...
Cortical Myoclonus in Angelman Syndrome Renzo Guerrini, MD,* Timothy M. De Lorey, PhD,? Paolo Bonanni, MD,* Anne Moncla, MD,f Charlotte Dravet, MD,S Georges Suisse, MD, Marie Odile Livet, MD,S Michelle Bureau, MD,$ Perrine Malzac, PhD,$ Pierre Genton, MD,S Pierre Thomas, MD, Ferdinand0 Sartucci, MD, Paolo Simi, PhD, and Josi. M. Serratosa, M D t Angelman syndrome (AS) results from lack of genetic contribution from maternal chromosome 15qll-13. This region encompasses three GABA,, receptor subunit genes (p3, a 5 , and y3). The characteristic phenotype of AS is severe mental retardation, ataxic gait, tremulousness, and jerky movements. We studied the movement disorder in 11 As patients, aged 3 to 28 years. Two patients had paternal uniparental disomy for chromosome 15, 8 had a , 3 Mb deletion, and 1 had a microdeletion involving loci D15S10, D15S113, and GABRB3. All patients exhibited quasicontinuous rhythmic myoclonus mainly involving hands and face, accompanied by rhythmic 5- to 10-Hz ...
Angelman syndrome is a genetic disorder that causes severe intellectual disabilities. Most individuals with Angelman syndrome do not speak, or use only a few words. Angelman syndrome affects the way that a persons brain coordinates their movements, called [i]ataxia[/i]. Ataxia can cause jerky move
Growth Hormone Therapy in Adults with Prader-Willi Syndrome - Prader-Willi syndrome;Growth hormone deficiency;Growth hormone therapy;
TY - JOUR. T1 - Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes. AU - Rosenfeld, Jill A.. AU - Stephens, Lindsey E.. AU - Coppinger, Justine. AU - Ballif, Blake C.. AU - Hoo, Joe J.. AU - French, Beatrice N.. AU - Banks, Valerie C.. AU - Smith, Wendy E.. AU - Manchester, David. AU - Tsai, Anne. AU - Merrion, Katrina. AU - Mendoza-Londono, Roberto. AU - Dupuis, Lucie. AU - Schultz, Roger. AU - Torchia, Beth. AU - Sahoo, Trilochan. AU - Bejjani, Bassem. AU - Weaver, David D.. AU - Shaffer, Lisa G.. PY - 2011/5. Y1 - 2011/5. N2 - Non-allelic homologous recombination (NAHR) between segmental duplications in proximal chromosome 15q breakpoint (BP) regions can lead to microdeletions and microduplications. Several individuals with deletions flanked by BP3 and BP4 on 15q13, immediately distal to, and not including the Prader-Willi/Angelman syndrome (PW/AS) critical region and proximal to the BP4-BP5 15q13.3 microdeletion syndrome region, have been reported; ...
Looking for online definition of Prader-willi in the Medical Dictionary? Prader-willi explanation free. What is Prader-willi? Meaning of Prader-willi medical term. What does Prader-willi mean?
Angelman Syndrome (AS) is a neurogenetic disorder that is classically characterized by excessive laughter and a happy demeanor. Aggression, sleep disorders and epilepsy are other phenotypes associated with this disorder as well. Both happy and aggressive demeanors have been expressed in five different consumers at The Kennedy Center, a site which offers programs and services to individuals with varying disabilities. Research proposes several different genetic mechanisms responsible for the development of AS, each of which impact the function of the UBE3A gene located in the 15q11-13 region on chromosome 15. Additionally, from an evolutionary perspective, Emotion Signaling Theory and Kinship Theory have been used to provide another explanation for the observed behaviors of those possessing Angelman Syndrome.
View Notes - imprinting_notes from BIOSCI 137 at UC Irvine. Imprinting ©J.L.Marsh 137B November 29, 2004 page 1 IMPRINTING - THE STORY OF PRADER-WILLI & ANGELMAN SYNDROMES Phenotype(s) = rare =
Doctor answers on Symptoms, Diagnosis, Treatment, and More: Dr. Diamond on angelman syndrome vs down syndrome: Disorders like AS & DS that cause Intellectual Disability differ in etiology, signs & symptoms & Neurobehavioral profiles including motor, language, cognitive & social/ adaptive skills. The genetic accident that causes DS gives a fetus 3 copies of Chromosome 21; a fetus with AS may lack a maternal UBE3A gene, have 2 copies of the gene from dad, or only dads gene is active at Chr.15 q11.2-q13. for topic: Angelman Syndrome Vs Down Syndrome
The severity of the symptoms associated with Angelman syndrome varies significantly across the population of those affected. Some speech and a greater degree of self-care are possible among the least profoundly affected. Walking and the use of simple sign language may be beyond the reach of the more profoundly affected. Early and continued participation in physical, occupational (related to the development of fine-motor control skills), and communication (speech) therapies are believed to significantly improve the prognosis (in the areas of cognition and communication) of individuals affected by AS. Further, the specific genetic mechanism underlying the condition is thought to correlate to the general prognosis of the affected person. On one end of the spectrum, a mutation to the UBE3A gene is thought to correlate to the least affected, whereas larger deletions on chromosome 15 are thought to correspond to the most affected. The clinical features of Angelman syndrome alter with age. As adulthood ...
Angelman Syndrome is a genetic disorder that affects the nervous system, characteristics that include developmental delays, intellectual disability, and speech impairments. Angelman syndrome generally go unnoticed until the age of 1 year. Children typically have a happy demeanor and have a fascination with water Symptoms developmental delay intellectual disability epilepsy microcephaly short attention span happy…
Maternal uniparental disomy for chromosome 15 or a deletion of 15q11.2-q13 from the paternally derived chromosome 15 is strongly supportive of the clinical diagnosis of PWS. Paternal uniparental disomy for chromosome 15 or a deletion of 15q11.2-q13 from the maternally derived chromosome 15 is strongly supportive of the clinical diagnosis of AS. The occurence of uniparental disomy is, however, rare in AS ...
Dr. Anne Anderson, epileptologist at Texas Childrens Hospital and investigator at the Cain Labs and Jan and Dan Duncan Neurological Research Institute. Read the blog posted on the Foundation for Angelman Syndrome Therapeutics website that describes Dr. Andersons latest research findings on Angelman syndrome.
Angelman syndrome (AS) is characterized by mental retardation, absence of speech, seizures and motor dysfunction. AS is caused by maternal deletions for chromosome 15q11-q13, paternal uniparental disomy (UPD), imprinting defects or loss-of-function mutations in the UBE3A locus which encodes E6-AP ubiquitin-protein ligase. The UBE3A gene is imprinted with paternal silencing in human brain and similar silencing of the Ube3a locus in Purkinje cells and hippocampal neurons in the mouse. We have sequenced the major coding exons for UBE3A in 56 index patients with a clinical diagnosis of AS and a normal DNA methylation pattern. The analysis identified disease-causing mutations in 17 of 56 patients (30%) including 13 truncating mutations, two missense mutations, one single amino acid deletion and one stop codon mutation predicting an elongated protein. Mutations were identified in six of eight families (75%) with more than one affected case, and in 11 of 47 isolated cases (23%); no mutation was found ...
(Medical Xpress)-Scientists at the Hebrew University of Jerusalem have reported a major breakthrough in understanding the molecular basis for Prader-Willi syndrome (PWS), perhaps the most studied among the class of diseases ...
Please support Team Elsie to raise funds for Prader-Willi Syndrome Research - Helping to create a better future for those living with PWS! - Givealittle is the place to donate and fundraise for causes and charities online.
With a focus on clinical, diagnostic and management aspects, this article encompasses a detailed discussion on the genetic mechanisms involved in Angelman Syndrome.
The international manual of conditions now includes a diagnostic code for Angelman syndrome - which may enable scientists to systematically collect information about the syndrome.
Children with Angelman Syndrome develop normally until about 1 year of age and then their intellectual development stops. They fail to develop language and other cognitive skills, are severely mentally handicapped, but have a happy disposition, laughing, smiling and enjoying social interaction. What could be behind this syndrome?A new study of A
Information, links to other sites and personal accounts of living with Angelman syndrome. Includes a research paper on the subject written by the parent of an Angel. ...
Definition of Angelman syndrome in US English - a rare congenital disorder characterized by mental disability and a tendency toward jerky movement, caused by the absenc
Kate Ahern MS, Ed (Click here to learn more) Certificate Available CEU Approved: AZ, CA Number of hours: 1.5 hour Instructional Level: Intermediate Enroll: $45.00 Course InfoInstructionsFinancial/Non-financial DisclosuresCertificateASHA InfoFAQ This course looks intensively at the interaction of the neurological motor planning disorder of apraxia/dyspraxia as seen in Angelman Syndrome and the anxiety which isRead more. ...
What is Angelman syndrome - life expectancy, photos, pictures, symptoms, causes, diagnosis, treatment. Though the life span is normal, the excitable nature
Angelman Syndrome Support - Facebook Group was created as a place to share, ask questions and support each other. Ask to Join, this closed Facebook group.. ...
Schäfer BW, Mattei MG (July 1993). "The human paired domain gene PAX7 (Hup1) maps to chromosome 1p35-1p36.2". Genomics. 17 (1 ... Paired box protein Pax-7 is a protein that in humans is encoded by the PAX7 gene. Pax-7 plays a role in neural crest ... Pilz AJ, Povey S, Gruss P, Abbott CM (March 1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... PAX7 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) PAX7 human gene location in the UCSC ...
... is 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 ...
Rs727428 position 7634474 is in several percent of humans.[16]. (TAAAA)(n) is five base pairs that repeats a variable number of ... In humans common polymorphisms include the following: Rs6259, also called Asp327Asn location 7633209 on Chromosome 17, results ... The gene for SHBG is called Shbg located on chromosome 17[11] on the short arm between the bands 17p12→p13.[12] Overlapping on ... Hryb DJ, Nakhla AM, Kahn SM, St George J, Levy NC, Romas NA, Rosner W (July 2002). "Sex hormone-binding globulin in the human ...
... is a human gene that encodes a protein known as KIAA0895 protein or hypothetical protein LOC23366. Other known aliases ... The genomic DNA is 65,976 [base pair]s long, while the longest mRNA that it produces is 4463 bases long. KIAA0895 is surrounded ... The KIAA0895 gene is located at p14.2 on chromosome 7. It can be transcribed into 15 transcript variants, which in turn can ... KIAA0895 has one paralog in humans known as KIAA0895L. Orthologs have been found in all mammals, and eukaryotes through T. ...
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 McConkey EH (2004). "Orthologous numbering of great ape and ... producing human chromosome 2. There are nine other major chromosomal differences between chimpanzees and humans: chromosome ...
... 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 human SMAD3 gene is located on chromosome 15 on the cytogenic band at 15q22.33. The gene is composed of 9 exons over ... 129,339 base pairs. It is one of several human homologues of a gene that was originally discovered in the fruit fly Drosophila ... Lu S, Lee J, Revelo M, Wang X, Lu S, Dong Z (October 2007). "Smad3 is overexpressed in advanced human prostate cancer and ... Lu S, Lee J, Revelo M, Wang X, Lu S, Dong Z (October 2007). "Smad3 is overexpressed in advanced human prostate cancer and ...
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. doi:10.1038/nature04727 ... 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. ...
"Expression of a human proprotein processing enzyme: correct cleavage of the von Willebrand factor precursor at a paired basic ... "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 a protein that in humans is encoded by the FURIN gene. Some proteins are inactive when they are first synthesized, and ...
... 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:". "Mouse PubMed Reference:". "Entrez Gene: leucine rich repeat containing 40". Chenna R, Sugawara H, ...
In humans, Robertsonian translocations generally occur in the five acrocentric chromosome pairs, namely 13, 14, 15, 21 and 22. ... 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 ...
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 ... GRCh38: Ensembl release 89: ENSG00000065518 - Ensembl, May 2017 "Human PubMed Reference:". "Mouse PubMed Reference:". "Entrez ...
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 ...
Chromosome 15 open reading frame 52 is a protein which in humans is encoded by the C15orf52 gene. This protein has a function ... The linear mRNA is 5344 base pairs long. The mRNA contains a short 5' untranslated region of 15 base pairs and a long 3' ... "A human interactome in three quantitative dimensions organized by stoichiometries and abundances." Cell 163.3 (2015): 712-723. ... C15orf52 is a gene located on the reverse strand of chromosome 15 in the species Homo sapiens at locus 15q15.1. The gene is ...
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 ...
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 ...
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, ...
... 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) ... "Blue-eyed humans have a single, common ancestor". News. University of Copenhagen. 2008-01-30. Retrieved 2008-11-06. Eiberg H, ... A mutation in the HERC2 gene adjacent to OCA2, affecting OCA2's expression in the human iris, is found common to nearly all ...
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. ...
For comparison, humans have 46 chromosomes, consisting of 23 pairs. In all modern classifications, from the Smith system of ... Adder's tongue (Ophioglossum reticulatum), a member of this family, is notable for having as many as 1260 chromosomes. ... 15 Jan 2012 [1] Grubben, Gerardus J. H. Vegetables. PROTA. p. 404. ISBN 978-90-5782-147-9. Smith, Alan R.; Pryer, Kathleen M.; ...
The SLC24A5 gene, in humans, is located on the long (q) arm of chromosome 15 on position 21.1, from base pair 46,200,461 to ... base pair 46,221,881. NCKX5 is 43 kDa protein that is partially localized to the trans-Golgi network in melanocytes. Removal of ... Jablonski NG, Chaplin G (July 2000). "The evolution of human skin coloration" (PDF). Journal of Human Evolution. 39 (1): 57-106 ... SLC24A5 appears to have played a key role in the evolution of light skin in humans of European ancestry. The gene's function in ...
... 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 ...
This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.. *v ... "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... Homeobox protein Hox-D8 is a protein that in humans is encoded by the HOXD8 gene.[5][6][7] ... Goodman FR (2003). "Limb malformations and the human HOX genes". Am. J. Med. Genet. 112 (3): 256-65. doi:10.1002/ajmg.10776. ...
They consist of tandemly repeated non-coding short nucleotide sequences (TTAGGG in all vertebrates), in humans spanning over ... Telomeres are the outermost parts of linear chromosomes. ... the last 2 to 15 kilobase pairs of the chromosome. Due to the ...
We report that human secretory breast carcinoma (SBC), a rare subtype of infiltrating ductal carcinoma, expresses the ETV6- ... Chromosomes, Human, Pair 12 * Chromosomes, Human, Pair 15 * DNA-Binding Proteins / chemistry ... Expression of the ETV6-NTRK3 gene fusion as a primary event in human secretory breast carcinoma Cancer Cell. 2002 Nov;2(5):367- ... We report that human secretory breast carcinoma (SBC), a rare subtype of infiltrating ductal carcinoma, expresses the ETV6- ...
... found two Prader-Willi syndrome families in which the patients carry a maternal methylation imprint on the paternal chromosome ... The D15S9 and D15S63 loci in the Prader-Willi/Angelman syndrome region on chromosome 15 are subject to parent-of-origin- ... Chromosome Mapping * Chromosomes, Human, Pair 15* * DNA / analysis* * DNA / genetics * DNA / metabolism ... The D15S9 and D15S63 loci in the Prader-Willi/Angelman syndrome region on chromosome 15 are subject to parent-of-origin- ...
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 ...
Chromosome Aberrations / genetics* * Chromosomes, Human, Pair 15 / genetics* * Diagnosis, Differential * Electroencephalography ... Different clinical phenotypes and genotypes of AS are described, including chromosome 15q11-13 deletion, uniparental disomy, ...
Chromosomes, Human, Pair 17 / ultrastructure. Chromosomes, Human, Pair 21 / ultrastructure. Chromosomes, Human, Pair 3 / ... Chromosomes, Human, Pair 7. Cytarabine / administration & dosage. Daunorubicin / administration & dosage, adverse effects. Drug ... Humans. Leukemia, Myeloid, Acute / drug therapy, etiology*, genetics. Leukemia, Promyelocytic, Acute / drug therapy*, genetics ... Acquired acute myelogenous leukemia after therapy for acute promyelocytic leukemia with t(15;17): a case report and review of ...
... 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. ...
Chromosomes Human Pair 15. © 2020 President and Fellows of Harvard College * Accessibility ... Congenital mesoblastic nephroma t(12;15) is associated with ETV6-NTRK3 gene fusion: cytogenetic and molecular relationship to ... Upper respiratory tract carcinoma with chromosomal translocation 15;19: evidence for a distinct disease entity of young ... BRD4 bromodomain gene rearrangement in aggressive carcinoma with translocation t(15;19). ...
Chromosomes, Human, Pair 15 / genetics * DNA Mutational Analysis * Dementia / complications* * Dementia / diagnostic imaging ... Using an extensive Amish pedigree, we have mapped the Mast syndrome locus (SPG21) to a small interval of chromosome 15q22.31 ... Sequence analysis of the three transcripts revealed that all 14 affected cases were homozygous for a single base-pair insertion ...
15;17). The 3 fusion transcripts are the result of heterogeneous breakpoint cluster regions (bcr) within the promyelocytic ... Chromosomes, Human, Pair 15* Actions. * Search in PubMed * Search in MeSH * Add to Search ... 2002 Mar;15(1):137-58. doi: 10.1053/beha.2002.0189. Best Pract Res Clin Haematol. 2002. PMID: 11987921 Review. ... The significance of minimal residual disease in patients with t(15;17). Grimwade D. Grimwade D. Best Pract Res Clin Haematol. ...
Chromosomes, Human, Pair 15. genetics. Cohort Studies. genetics. Endometriosis. genetics. Female. genetics. ...
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 ...
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). ...
Chromosomes, Human, Pair 15* / genetics * Female * Genetic Predisposition to Disease * Genome-Wide Association Study ...
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 ...
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 ...
Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 15". Genet Test. 3 (3): 309-322 ... 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. ... The program...recounts how one scientist determined how the deletion of a key sequence of DNA on human chromosome 15 could lead ...
Fam49A 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 ...
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 ...
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 ...
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 ...
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 ...
  • 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. (abc.net.au)
  • Mapping By PCR analysis of a human-hamster somatic hybrid DNA panel, Funk et al. (wikipedia.org)
  • 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. (cdc.gov)
  • Mapping with FISH and CGH array further narrowed the minimum region of duplication of chromosome 1 to 40 centimorgans (cM) and 71-82 cM. (cdc.gov)
  • 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. (genetics.org)
  • 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 ]. (hindawi.com)
  • Gene specific primer pairs resulted in PCR amplification of a product matched by size to a hybrid-mapping panel containing only chromosome 5 as its human genetic material. (wikipedia.org)
  • As this disorder also afflicts humans, a researcher and lead author from the Broad Institute stated, "This demonstrates the utility of the horse for disease gene mapping. (wikipedia.org)
  • End-sequence profiling (ESP) (sometimes "Paired-end mapping (PEM)") is a method based on sequence-tagged connectors developed to facilitate de novo genome sequencing to identify high-resolution copy number and structural aberration such as inversion and translocation. (wikipedia.org)
  • and mouse, rat, and rabbit rodent orthologs of human ALOX15, which share 74-81% amino acid identity with the human enzyme, are commonly termed Alox15, 12/15-lipoxygenase, 12/15-LOX, or 12/15-LO). (wikipedia.org)
  • Furin is also known as PACE (Paired basic Amino acid Cleaving Enzyme). (wikipedia.org)
  • This X2 transcript variant contains 15 exons which yield a polypeptide of 551 amino acids. (wikipedia.org)
  • The three DUF2475 regions are located from amino acids 15 to 80, 174 to 234, and 234 to 261.The predicted molecular weight is 30.6 kdal with the predicted isoelectric point of 8.414. (wikipedia.org)
  • The amino acids that are identical between mature human IL-1α and mature IL-1β is 22% while it is 26% when comparing IL-1β to IL-1RA and only 18% when comparing IL-1α to IL-1RA. (wikipedia.org)
  • The PABC domain is approximately 75 amino acids and consists of 4 or 5 α-helices depending on the organism - human PABCs have 5, while yeast has been observed to have 4. (wikipedia.org)
  • The human form has 1883 amino acid residues, with an isoelectric point of 8.74 and a molecular mass of 205,100 Daltons. (wikipedia.org)
  • The human version of UPF0739 contains 269 amino acids and weighs 29430 Da. (wikipedia.org)
  • 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). (wikipedia.org)
  • In these mice, the prophase I stage of meiosis is defective due to the disruption of chromosome pairing. (wikipedia.org)
  • Haploid human genomes, which are contained in germ cells (the egg and sperm gamete cells created in the meiosis phase of sexual reproduction before fertilization creates a zygote) consist of three billion DNA base pairs, while diploid genomes (found in somatic cells) have twice the DNA content. (wikipedia.org)
  • 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. (rarediseases.org)
  • 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. (rarediseases.org)
  • In many individuals with Chromosome 15 Ring, craniofacial malformations may result in a distinctive facial appearance. (rarediseases.org)
  • 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. (harvard.edu)
  • The Ad insert was shown to consist of a colinear segment from nucleotides 1 to 4344 integrated into chromosome 19 (19q13.2). (sigmaaldrich.com)
  • Both prokaryotic and eukaryotic ribosomes can be broken down into two subunits (the S in 16S represents Svedberg units), nt= length in nucleotides of the respective rRNAs, for exemplary species Escherichia coli (prokaryote) and human (eukaryote): Note that the S units of the subunits (or the rRNAs) cannot simply be added because they represent measures of sedimentation rate rather than of mass. (wikipedia.org)
  • Over the past 20 years the human genome project has produced a series of tools for the study of genetic diseases. (abc.net.au)
  • After the completion of the Human genome project, a common chimpanzee genome project was initiated. (wikipedia.org)
  • 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. (llnl.gov)
  • 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. (llnl.gov)
  • Therefore, there were three institutions that divided the 14 chromosomes among themselves in the Malaria Genome Project. (citizendium.org)
  • 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. (genome.gov)
  • Last Fall we celebrated the fifth anniversary of the Human Genome Project with a record of excellent progress toward our goals. (genome.gov)
  • This year we are embarking on this ambitious and exciting phase of the Human Genome Project. (genome.gov)
  • When the Human Genome Project started, even the best laboratory could only produce a few hundred thousand basepairs per year. (genome.gov)
  • 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. (genome.gov)
  • 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. (genome.gov)
  • 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. (genome.gov)
  • When the Human Genome Project is complete, isolating a disease gene of interest will take just a couple of months. (genome.gov)
  • The Horse Genome Project mapped 2.7 billion DNA base pairs, and released the full map in 2009. (wikipedia.org)
  • Ridley concludes that the Human Genome Project is largely based on the inaccurate belief that there is one single human genome. (wikipedia.org)
  • Human ALOX15 was initially named arachidonate 15-lipoxygenase or 15-lipoxygenase but subsequent studies uncovered a second human enzyme with 15-lipoxygenase activity as well as various non-human mammalian Alox15 enzymes that are closely related to and therefore orthologs of human ALOX15. (wikipedia.org)
  • microchromosomes are very tiny gene -rich chromosomes which are a typical genetic component in birds , and some groups of non-mammalian animals? (thefullwiki.org)
  • DNA methylation is vital in humans and dysfunction is associated with cancer, thus, studying methylation reactions in non-mammalians may provide better insight into mammalian methylation reactions. (wikipedia.org)
  • X inactivation is an early developmental process in mammalian females that transcriptionally silences one of the pair of X chromosomes, thus providing dosage equivalence between males and females (see dosage compensation). (wikipedia.org)
  • 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. (nih.gov)
  • 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). (aacrjournals.org)
  • There is, however, evidence consistent with a much more recent arrival, within the post-Babel time frame (Creation 15(3): 48-50, 1993). (creation.com)