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.

A mutation in the RIEG1 gene associated with Peters' anomaly. (1/867)

Mutations within the RIEG1 homeobox gene on chromosome 4q25 have previously been reported in association with Rieger syndrome. We report a 3' splice site mutation within the 3rd intron of the RIEG1 gene which is associated with unilateral Peters' anomaly. The mutation is a single base substition of A to T at the invariant -2 site of the 3' splice site. Peters' anomaly, which is characterised by ocular anterior segment dysgenesis and central corneal opacification, is distinct from Rieger anomaly. This is the first description of a RIEG1 mutation associated with Peters' anomaly.  (+info)

Tumor suppression in human skin carcinoma cells by chromosome 15 transfer or thrombospondin-1 overexpression through halted tumor vascularization. (2/867)

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)

Cloning and characterization of a secreted frizzled-related protein that is expressed by the retinal pigment epithelium. (3/867)

The Wnt/frizzled cell signaling pathway has been implicated in the determination of polarity in a number of systems, including the Drosophila retina. The vertebrate retina develops from an undifferentiated neuroepithelium into an organized and laminated structure that demonstrates a high degree of polarity at both the tissue and cellular levels. In the process of searching for molecules that are preferentially expressed by the vertebrate retinal pigment epithelium (RPE), we identified secreted frizzled-related protein 5 (SFRP5), a member of the SFRP family that appears to act by modulating Wnt signal transduction. SFRP5 is highly expressed by RPE cells, and is also expressed in the pancreas. Within the retina, the related molecule SFRP2 is expressed specifically by cells of the inner nuclear layer. Thus, photoreceptors are likely to be bathed by two opposing gradients of SFRP molecules. Consistent with SFRP5 's postulated role in modulating Wnt signaling in the retina, it inhibits the ability of Xwnt-8 mRNA to induce axis duplication in Xenopus embryos. The human SFRP5 gene consists of three coding exons and it maps to chromosome 10q24.1; human SFRP2 maps to 4q31.3. Based on the biology and complementary expression patterns of SFRP2 and SFRP5, we suggest that they may be involved in determining the polarity of photoreceptor, and perhaps other, cells in the retina.  (+info)

A genome search identifies major quantitative trait loci on human chromosomes 3 and 4 that influence cholesterol concentrations in small LDL particles. (4/867)

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

The metamorphosis of a molecule: from soluble enzyme to the leukocyte receptor CD38. (5/867)

Human CD38 is a 45-kDa type II membrane glycoprotein with an intricate pattern of expression in leukocytes, although evidence is accumulating of its quite widespread expression in cells of nonvascular origin. CD38 is a member of a nascent eukaryotic gene family encoding cytosolic and membrane-bound enzymes whose substrate is NAD, a coenzyme ubiquitously distributed in nature. Functionally, CD38 is an eclectic molecule with the ability not only to catalyze but also to signal, to mobilize calcium, and to adhere to itself, to hyaluronan, and to other ligands. Interaction with CD38 on various leukocyte subpopulations has profound though diverse consequences on their life-span, but these effects seem to be independent of the enzymatic activity of the molecule. CD38 challenges our expectations of a surface molecule and we must sift through its many guises to unmask its true nature.  (+info)

Linkage disequilibrium at the ADH2 and ADH3 loci and risk of alcoholism. (6/867)

Two of the three class I alcohol dehydrogenase (ADH) genes (ADH2 and ADH3) encode known functional variants that act on alcohol with different efficiencies. Variants at both these genes have been implicated in alcoholism in some populations because allele frequencies differ between alcoholics and controls. Specifically, controls have higher frequencies of the variants with higher Vmax (ADH2*2 and ADH3*1). In samples both of alcoholics and of controls from three Taiwanese populations (Chinese, Ami, and Atayal) we found significant pairwise disequilibrium for all comparisons of the two functional polymorphisms and a third, presumably neutral, intronic polymorphism in ADH2. The class I ADH genes all lie within 80 kb on chromosome 4; thus, variants are not inherited independently, and haplotypes must be analyzed when evaluating the risk of alcoholism. In the Taiwanese Chinese we found that, only among those chromosomes containing the ADH3*1 variant (high Vmax), the proportions of chromosomes with ADH2*1 (low Vmax) and those with ADH2*2 (high Vmax) are significantly different between alcoholics and controls (P<10-5). The proportions of chromosomes with ADH3*1 and those with ADH3*2 are not significantly different between alcoholics and controls, on a constant ADH2 background (with ADH2*1, P=.83; with ADH2*2, P=.53). Thus, the observed differences in the frequency of the functional polymorphism at ADH3, between alcoholics and controls, can be accounted for by the disequilibrium with ADH2 in this population.  (+info)

DNA pooling identifies QTLs on chromosome 4 for general cognitive ability in children. (7/867)

General cognitive ability (g), which is related to many aspects of brain functioning, is one of the most heritable traits in neuroscience. Similarly to other heritable quantitatively distributed traits, genetic influence on g is likely to be due to the combined action of many genes of small effect [quantitative trait loci (QTLs)], perhaps several on each chromosome. We used DNA pooling for the first time to search a chromosome systematically with a dense map of DNA markers for allelic associations with g. We screened 147 markers on chromosome 4 such that 85% of the chromosome were estimated to be within 1 cM of a marker. Comparing pooled DNA from 51 children of high g and from 51 controls of average g, 11 significant QTL associations emerged. The association with three of these 11 markers ( D4S2943, MSX1 and D4S1607 ) replicated using DNA pooling in independent samples of 50 children of extremely high g and 50 controls. Furthermore, all three associations were confirmed when each individual was genotyped separately ( D4S2943, P = 0. 00045; MSX1, P = 0.011; D4S1607, P = 0.019). Identifying specific genes responsible for such QTL associations will open new windows in cognitive neuroscience through which to observe pathways between genes and learning and memory.  (+info)

A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. (8/867)

Stargardt disease (STGD) is the most common hereditary macular dystrophy and is characterized by decreased central vision, atrophy of the macula and underlying retinal-pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. STGD is most commonly inherited as an autosomal recessive trait, but many families have been described in which features of the disease are transmitted in an autosomal dominant manner. A recessive locus has been identified on chromosome 1p (STGD1), and dominant loci have been mapped to both chromosome 13q (STGD2) and chromosome 6q (STGD3). In this study, we describe a kindred with an autosomal dominant Stargardt-like phenotype. A genomewide search demonstrated linkage to a locus on chromosome 4p, with a maximum LOD score of 5.12 at a recombination fraction of.00, for marker D4S403. Analysis of extended haplotypes localized the disease gene to an approximately 12-cM interval between loci D4S1582 and D4S2397. Therefore, this kindred establishes a new dominant Stargardt-like locus, STGD4.  (+info)

Test Instructions Navigate to Site Administration , Development , Purge all caches and Purge all caches View the div#notice element on the Purge all caches page, itself a div.generalbox, and note that bottom left and bottom right corners now have the same border-radius as top right and top left corners. Alternatively, navigate to Site Administration , Notifications; there are usually a few div.generalbox elements there upon which you can verify the change. Alternatively, view or create a Web page resource and then view the resource. The content is presented inside a div.generalbox. All corners should have the same border-radius ...
Background: Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder associated with the partial deletion of integral numbers of 3.3 kb D4Z4 DNA repeats within the subtelomere of chromosome 4q. A number of candidate FSHD genes, adenine nucleotide translocator 1 gene (ANT1), FSHD-related gene 1 (FRG1), FRG2 and DUX4c, upstream of the D4Z4 array (FSHD locus), and double homeobox chromosome 4 (DUX4) within the repeat itself, are upregulated in some patients, thus suggesting an underlying perturbation of the chromatin structure. Furthermore, a mouse model overexpressing FRG1 has been generated, displaying skeletal muscle defects. Results: In the context of myogenic differentiation, we compared the chromatin structure and tridimensional interaction of the D4Z4 array and FRG1 gene promoter, and FRG1 expression, in control and FSHD cells. The FRG1 gene was prematurely expressed during FSHD myoblast differentiation, thus suggesting that the number of D4Z4 repeats in ...
A recent finding by medical geneticists sheds new light on how facioscapulohumeral muscular dystrophy develops and how it might be treated. More commonly known as FSHD, the devastating disease affects both men and women. FSHD is usually an inherited genetic disorder, yet sometimes appears spontaneously via new mutations in individuals with no family history of the condition. "People with the condition experience progressive muscle weakness and about 1 in 5 require wheelchair assistance by age 40," said Dr. Daniel G. Miller, University of Washington (UW) associate professor of pediatrics in the Division of Genetic Medicine. Dr. Miller and his worldwide collaborators study the molecular events leading to symptoms of FSHD in the hopes of designing therapies to prevent the emergence of symptoms or reduce their severity. In the November 11, 2012 online issue of Nature Genetics, Dr. Miller and Dr. Silvere M. van der Maarel of Leiden University in The Netherlands, along with an international team, ...
Wolf-Hirschhorn syndrome was first documented in 1961: a child with midline fusion defects. Subsequent cytogenetic studies revealed a chromosomal deletion of the short arm of chromosome 4. Clinical features include mental retardation, seizures, distinct facial appearance, and midline closure defects. The former Pitt-Rogers-Danks syndromes, caused by overlapping 4p deletions, now are considered as a part of Wolf-Hirschhorn syndrome.
Facioscapulohumeral muscular dystrophy (FSHD) affects over 25,000 people in the USA alone, making it one of the most prevalent genetic diseases. The genetic mutation underlying FSHD is usually a reduction in the copy number of a macrosatellite repeat on chromosome 4 referred to as D4Z4 (van Deutekom et al., 1993; Wijmenga et al., 1992). This repeat is GC-rich, highly methylated and normally subjected to repeat-induced silencing, which is disrupted in an allele-specific manner by contractions to 10 or fewer copies (van Overveld et al., 2003) or is disrupted on all D4Z4 repeats owing to mutation in the chromatin protein SMCHD1 (de Greef et al., 2009; Hartweck et al., 2013; Lemmers et al., 2012). When silencing at D4Z4 breaks down, an RNA transcript encoding the DUX4 protein (Gabriëls et al., 1999) is expressed. The presence of a poly(A) signal downstream of the D4Z4 repeats on chromosome 4 (chr4) (Dixit et al., 2007) leads to DUX4 expression and explains why disease is associated only with ...
Facioscapulohumeral muscular dystrophy (FSHD) isan enigmatic inherited disorder, while the disease locus for this condition was mapped some 17 years ago and the mutations associated with the disease are known, the exact identity of the FSHD gene remains elusive
We report on a 4-year-old girl who presented with microcephaly, multiple minor anomalies of face and limbs, congenital heart defect, hypotonia, neuropsychomotor delay, deafness and seizures. A GTG-banded karyotype identified an additional fragment of unknown origin on the terminal region of 4p. Parental karyotypes were normal. FISH analysis using a whole chromosome paint probe for chromosome 4 and subtelomere probes showed a signal on the entire add (4) chromosome and loss of the 4p subtelomere region, respectively. Additional analysis using microsatellite markers for chromosome 4 and whole-genome array comparative genomic hybridization (array-CGH) identified a duplication of the region 4p13 4p16.3. Her karyotype was thus interpreted as an inverted duplication with terminal deletion of 4p: 46,XX,der(4)(:p13 p16.3::p16.3 qter). The clinical features of our patient differed from those typically observed in Wolf-Hirschhorn syndrome and were more compatible with duplication 4(p14 p16.3), with ...
Cooper and Hirschhorn first documented Wolf-Hirschhorn syndrome in 1961. They described a child with midline fusion defects, and subsequent cytogenetic studies revealed a chromosomal deletion of the short arm of chromosome 4.
Epigenetic Gene expression and Chromatin dynamics in Facioscapulohumeral Muscular Dystrophy (FSHD). Facioscapulohumeral muscular dystrophy (FSHD) is a debilitating genetic condition manifest by weakness of facial and upper extremity musculature that presents in the 2nd decade of life. The causative genetic event is a contraction of a subtelomeric array of repeated 3.3 kb sequence units residing on one of two common alleles of chromosome 4. How this array contraction translates into cellular differences that result in weakness of select muscle groups is a fascinating question that is not presently understood. Each D4Z4 repeat unit contains a large open reading frame that encodes a putative double homeodomain containing protein named DUX4 making aberrant expression, or expression of aberrant DUX4 isoforms an attractive mechanism for FSHD pathology. Our long term objectives are to understand how muscle strength is compromised as a result of molecular events initiated by these contractions. With ...
Part 1 (dose escalation, open-label) Part 1 will consist of up to 6 cohorts (A to F) of patients and will evaluate multiple ascending dose levels of ACE-083 in either the tibialis anterior (TA) or biceps brachii (BB) muscle. Patients in each cohort will be enrolled in a 4-week screening period before beginning treatment. A Safety Review Team (SRT) will meet to review data for each cohort when at least 4 patients within a cohort have completed their Day 43 visit prior to dose escalation.. Part 2 (randomized, double-blind, placebo-controlled) Prior to the initiation of Part 2, a review of safety and efficacy data from Part 1 will be conducted to determine whether cohorts for one or both muscles will be pursued in Part 2, as well as the recommended dose level for each muscle. A total of up to 40 new patients (20 patients per muscle) may be enrolled and randomized (3:2) to receive either ACE-083 (n=12) or placebo (n=8) unilaterally or bilaterally (if both sides are affected per inclusion criteria) ...
Facioscapulohumeral muscular dystrophy (FSHD), caused by partial deletion of the D4Z4 macrosatellite repeat on chromosome 4q, has a complex genetic and epigenetic etiology. To develop FSHD, D4Z4 contraction needs to occur on a specific genetic background. Only contractions associated with the 4qA161 haplotype cause FSHD.
Deletion of a subset of the D4Z4 macrosatellite repeats in the subtelomeric region of chromosome 4q causes facioscapulohumeral muscular dystrophy (FSHD) when occurring on a specific haplotype of 4qter (4qA161). Several genes have been examined as candidates for causing FSHD, including the DUX4 homeobox gene in the D4Z4 repeat, but none have been definitively shown to cause the disease, nor has the full extent of transcripts from the D4Z4 region been carefully characterized. Using strand-specific RT-PCR, we have identified several sense and antisense transcripts originating from the 4q D4Z4 units in wild-type and FSHD muscle cells. Consistent with prior reports, we find that the DUX4 transcript from the last (most telomeric) D4Z4 unit is polyadenylated and has two introns in its 3-prime untranslated region. In addition, we show that this transcript generates (i) small si/miRNA-sized fragments, (ii) uncapped, polyadenylated 3-prime fragments that encode the conserved C-terminal portion of DUX4 and ...
Derepression of in skeletal muscle has emerged as a likely cause of pathology in facioscapulohumeral muscular dystrophy (FSHD). Here we report on the use of ...
NSD3 antibody (Wolf-Hirschhorn syndrome candidate 1-like 1) for ICC/IF, IHC-P, WB. Anti-NSD3 pAb (GTX55733) is tested in Human, Mouse, Rat samples. 100% Ab-Assurance.
Learn more about important health issues for FSHD patients, click on the boxes below to learn about specific FSHD health conditions & symptions
If you use this products in your scientific publication, it should be cited in the publication as: Creative Bioarray cat no. If your paper has been published, please click here to submit the Pub Med ID of your paper to get a coupon. ...
Wolfram syndrome is a rare genetic condition which affects several systems at the same time thus producing a classic set of symptoms.
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Melzner, F. , Mark, F. C. , Bock, C. , Langenbuch, M. , Boutilier, R. G. , Claireaux, G. , Gutowska, M. , Wolfram, K. and Pörtner, H. O. (2006 ...
1: Lemmers RJ, Wohlgemuth M, van der Gaag KJ, van der Vliet PJ, van Teijlingen CM, de Knijff P, Padberg GW, Frants RR, van der Maarel SM. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet 2007; 81(5):884-94.. 2: Ehrlich M, Jackson K, Tsumagari K, Camaño P, Lemmers RJ. Hybridization analysis of D4Z4 repeat arrays linked to FSHD.Chromosoma 2007; 116(2):107-16.. 3: Lemmers RJ, van der Wielen MJ, Bakker E, Padberg GW, Frants RR, van der MaarelSM. Somatic mosaicism in FSHD often goes undetected.Ann Neurol 2004 Jun; 55(6):845-50.. 4: Lemmers RJ, Osborn M, Haaf T, Rogers M, Frants RR, Padberg GW, Cooper DN, van der Maarel SM, Upadhyaya M. D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection. Neurology 2003 Jul 22; 61(2):178-83.. 5: Lemmers RJ, de Kievit P, Sandkuijl L, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM. Facioscapulohumeral muscular dystrophy is uniquely associated ...
The parental origin of the de novo deleted chromosome 4 was studied in five cases of Wolf-Hirschhorn syndrome using polymorphic probes mapping in the 4p16.3 region. In all the patients the deleted chromosome was found to be of paternal origin and these results, together with similar ones obtained by another group, make the preferential paternal origin of the de novo chromosome 4 deletion highly significant.. ...
A number of histone methyltransferases have been identified and biochemically characterized, but the pathologic roles of their dysfunction in human diseases like cancer are not well understood. Here, we demonstrate that Wolf-Hirschhorn syndrome candidate 1 (WHSC1) plays important roles in human carcinogenesis. Transcriptional levels of this gene are significantly elevated in various types of cancer including bladder and lung cancers. Immunohistochemical analysis using a number of clinical tissues confirmed significant up-regulation of WHSC1 expression in bladder and lung cancer cells at the protein level. Treatment of cancer cell lines with small interfering RNA targeting WHSC1 significantly knocked down its expression and resulted in the suppression of proliferation. Cell cycle analysis by flow cytometry indicated that knockdown of WHSC1 decreased the cell population of cancer cells at the S phase while increasing that at the G(2)/M phase. WHSC1 interacts with some proteins related to the WNT pathway
Wolf-Hirschhorn syndrome answers are found in the Tabers Medical Dictionary powered by Unbound Medicine. Available for iPhone, iPad, Android, and Web.
FSHD is the third most common muscular dystrophy in man with an estimated incidence of 54 per million. Patients suffer from progressive and irreversible weakness and wasting of the facial, shoulder and upper arm muscles. Approximately 20% of gene carriers become wheelchair dependent. There is no cure for FSHD.. Scientists at LUMC, in collaboration with other academic institutions, have discovered two novel target mechanisms whereby the two forms of FSHD can arise. The mechanisms represent targets for therapeutic intervention.. In addition, cell lines and mouse models of FSHD have been developed and can be used to further research the disease and/or to screen and validate potential therapeutics.. The collaborating institutions represent world-leading expertise in the field of FSHD and can also provide ongoing expertise.. Partner companies are now sought for research collaborations in this field, and licensing of key technologies available at the institutions.. ...
The genetic lesion diagnostic for facioscapulohumeral muscular dystrophy (FSHD) results in an epigenetic misregulation of gene expression, which in turn is what ultimately leads to the disease pathology. FRG1 (FSHD region gene 1) is a leading candidate gene whose misexpression may lead to FSHD. As FSHD pathology is most prominent in the musculature, most research and therapy efforts have focused on muscle cells. However, between 50-75% of FSHD patients also exhibit retinal vasculopathy and FSHD muscle has increased levels of vascular-endothelial related transcripts, suggesting an underappreciated vascular component to the disease. Using Xenopus laevis as a model, we have shown a previously unsuspected role for FRG1 in the development of both muscular and vascular structures. Furthermore, overexpression of frg1 displays disrupted muscle and dilated and tortuous vessels, phenocopying the symptoms of FSHD patients. Thus, our work strongly supports a role for FRG1 in FSHD disease pathology ...
The goal of this study is to confirm the genetic status of Registry members with suspected FSHD. Genetic testing (DNA testing) by a blood draw can determine whether a patient has FSHD1, FSHD2, or neither. Clinical trials for FSHD often require patients to have had a genetically confirmed FSHD to participate. This study will increase the number of Registry members able to participate in future clinical trials ...
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Article originally appeared on musculardystrophynews.com, October 10, 2017. Resolaris (ATYR1940) improved the muscle strength of nearly two-thirds of adolescents and young adults with early-onse
Study showed that the variability in clinical severity of facioscapulohumeral muscular dystrophy in FSHD1 and FSHD2 individuals is dependent on individual differences in susceptibility to D4Z4 hypomethylation ...
If you are a newly diagnosed parent of a child with Wolf-Hirschhorn Syndrome, this is the place to start. This site is about people just like you.
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Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are inherited disorders characterized by progressive muscle weakness and loss of muscle tissue. The purpose of this registry is to connect people with DM or FSHD with researchers studying these diseases. The registry will offer individuals with DM and FSHD an opportunity to participate in research that focuses of their diseases. The registry will also help scientists to accomplish research on DM and FSHD and to distribute their findings to patients and care providers ...
SUMMARY Wolf-Hirschhorn syndrome (WHS) is caused by deletions in the short arm of chromosome 4 (4p) and occurs in about one per 20,000 births. Patients with WHS display a set of highly variable characteristics including craniofacial dysgenesis, mental retardation, speech problems, congenital heart defects, short stature and a variety of skeletal anomalies. Analysis of patients with 4p deletions has identified two WHS critical regions (WHSCRs); however, deletions targeting mouse WHSCRs do not recapitulate the classical WHS defects, and the genes contributing to WHS have not been conclusively established. Recently, the human FGFRL1 gene, encoding a putative fibroblast growth factor (FGF) decoy receptor, has been implicated in the craniofacial phenotype of a WHS patient. Here, we report that targeted deletion of the mouse Fgfrl1 gene recapitulates a broad array of WHS phenotypes, including abnormal craniofacial development, axial and appendicular skeletal anomalies, and congenital heart defects. ...
Mutations in human and/or mouse homologs are associated with this disease. Synonyms: Landouzy Dejerine muscular dystrophy; Landouzy-Dejerine muscular dystrophy; Landouzy-Dejerine muscular dystrophy; Muscular dystrophy, Landouzy-Dejerine
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An NIH funded, Senatory Paul D. Wellstone Muscular Dystrophy Cooperative Research Center (MDCRC) has recently been established entitled Biomarkers for therapy of FSHD (facioscapulohumeral muscular dystrophy). This multi-institutional MDCRC will be directed by Charles Emerson, Ph.D. at Boston Biomedical Research Institute. The PI (in addition to having a project that is not being reviewed by the IRB at this time) is a co-director of the Centers Cell core. This core will be a national repository of muscle tissue, cells, and DNA for studies in FSHD.
We report on an 8-month-old girl with a novel unbalanced chromosomal rearrangement, consisting of a terminal deletion of 4p and a paternal duplication of terminal 11p. Each of these is associated with the well-known clinical phenotypes of Wolf-Hirschhorn syndrome (WHS) and Beckwith-Wiedemann syndrome (BWS), respectively. She presented for clinical evaluation of dysmorphic facial features, developmental delay, atrial septal defect (ASD), and left hydro-nephrosis. High-resolution cytogenetic analysis revealed a normal female karyotype, but subtelomeric fluorescence in situ hybridization (FISH) analysis revealed a der(4)t(4;11) (pter;pter). Both FISH and microarray CGH studies clearly demonstrated that the WHS critical regions 1 and 2 were deleted, and that the BWS imprinted domains (ID) 1 and 2 were duplicated on the der(4). Parental chromosome analysis revealed that the father carried a cryptic balanced t(4;11)(pter;pter). As expected, our patient manifests findings of both WHS (a growth ...
Background Facioscapulohumeral muscular dystrophy (FSHD) is associated with an epigenetic defect on 4qter. Two clinically indistinguishable forms of FSHD are known, FSHD1 and FSHD2. FSHD1 is caused by contraction of the highly polymorphic D4Z4 macrosatellite repeat array on chromosome 4q35. FSHD2 is caused by pathogenic mutations of the SMCHD1 gene.. Both genetic defects lead to D4Z4 DNA hypomethylation. In the presence of a polymorphic polyadenylation signal (PAS), DNA hypomethylation leads to inappropriate expression of the D4Z4-encoded DUX4 transcription factor in skeletal muscle. Currently, hypomethylation is not diagnostic per se because of the interference of non-pathogenic arrays and the lack of information about the presence of DUX4-PAS. ...
PubMed journal article A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 1 were found in PRIME PubMed. Download Prime PubMed App to iPhone or iPad.
Am J Med Genet A. 2013 Jul;161A(7):1759-62. doi: 10.1002/ajmg.a.35966. Epub 2013 May 21. Case Reports; Research Support, Non-U.S. Govt
Health,Boston MA (PRWEB) January 24 2013 Facioscapulohumeral muscular dystrophy (FSHD) is a disease most people have never heard of even though it is one of the most common forms of muscular dystrophy. Having a name that is daunting to pronounce and spell doesnt help. But being an
Summary: DUX4 underlies pathogenesis in facioscapulohumeral muscular dystrophy. DUX4 acts mainly as a transcriptional activator that inhibits myogenesis by orchestrating a gene expression profile representative of a more stem-cell-like state. ...
Labeled FISH probes for identification of subtelomere aberrations using Fluorescent In Situ Hybridization Technique. (Technology) (FE0030) - Products - Abnova
The DUX4 region contains tandem arrays of a 3.3 Kb D4Z4 macrosatellite repeat located in the sub-telomeric region of chromosome 4q. The number of D4Z4 repeats is highly polymorphic, ranging from 8 to 100 copies in the healthy individuals, but only 1 to 10 units in individuals with Facioscapulohumeral muscular dystrophy-1 (FSHD1: MIM#158900). The contraction of the repeat arrays is believed to result in a decreased epigenetic repression effect of D4Z4 and subsequent transcriptional activation of the DUX4 gene. Three main haplotypes, known as 4qA, 4qB and 4qA-L, have been reported for this region (1-3). The 4qB haplotype has homology to 4qA in the D4Z4 repeats, but is completely different in the distal region (1,2). 4qA, considered the reference haplotype, is the ancestral and most common haplotype. 4qA and 4qA-L are associated with FSHD, while 4qB is not (2). The different haplotypes exhibit population stratification (3 ...
Fonseca, S.G., Ishigaki, S., Oslowski, C.M, Lu, S., Lipson, K.L., Ghosh, R., Hayashi, E., Ishihara, H., Oka, Y., Permutt, M.A., and Urano, F.; Journal of Clinical Invesigation, 120(3): 744-55, 2010.
View Conrad Wolframs talk on whats wrong with math education and how to fix it. Central to his argument is that calculating should be computer based.
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Stephen Wolfram on using a symbolic discourse language to create legal contracts and even constitutions that are smart, computational, and unambiguous, and work for both humans and AIs.
Kit Component:- KN206868G1, HHIP gRNA vector 1 in pCas-Guide vector- KN206868G2, HHIP gRNA vector 2 in pCas-Guide vector- KN206868D, donor vector…
This phase I/II study investigated the safety of stamulumab in patients with Becker muscular dystrophy, facioscapulohumeral muscular dystrophy and limb-girdle
Labeled FISH probes for identification of subtelomere aberrations using Fluorescent In Situ Hybridization Technique. (Technology) (FE0119) - Products - Abnova
For those of you on FB, or who follow Blog about a Bloke on FB, you will see that I slipped in some pretty cool news about Ryleys weigh-in yesterday at the RCH. Now, as most people are aware, one of the characteristics of WHS is slow growth, so most of the children/adults tend to be fairly small. This has always been Ryley. He has always been tiny. In fact, he still is tiny. The funny thing is, that now, he actually is on the typical growth charts for a child of his age. Allbeit on the bottom, but really, that is a mere detail. Length wise, he is not really near the typical size of an 8 year old, but he is still growing upwards at a good pace, so I am happy ...
Learn more about Huntington Disease at Doctors Hospital of Augusta DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
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Kit Component:- KN210993G1, WHSC1L1 gRNA vector 1 in pCas-Guide vector- KN210993G2, WHSC1L1 gRNA vector 2 in pCas-Guide vector- KN210993D, donor…
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Sunil Pradhan (born 25 June 1957) is an Indian neurologist, medical researcher and writer, known for the invention of two electrophysiological techniques. He has also described five medical signs, of which one related to Duchenne muscular dystrophy is known as Pradhan Sign, and the others associated with facioscapulohumeral muscular dystrophy (FSHD) and similar neuro diseases. The Government of India awarded him the Padma Shri, the fourth highest civilian award, in 2014 for his contributions to the field of neuroscience. Dr. Pradhans extensive clinical research in the area of muscular dystrophy has led to the discovery of five new clinical signs, each indicative of a specific type of the disease. Sanjay Gandhi Post Graduate Institute of Medical Sciences circular. Pradhan was born in the hill station of Najibabad, Bijnaur District, in the Indian state of Uttar Pradesh, on 25 June 1957. He did schooling at many local schools in Jhansi, Aligarh, Banda, Allahabad and Lucknow and, choosing medical ...
Our lab studies the alternative splicing of pre-mRNAs. In Drosophila, alternative splicing plays a central role in sex determination. We have been using the sex-determination system to study factors that influence alternative splicing and to determine the mechanisms by which they do so. Several of the proteins we are studying belong to the serine/arginine-rich (SR) family of splicing factors. These proteins usually bind to sequences located within exons, known as exonic splicing enhancers (ESEs) and activate nearby splice sites. We have found that an SR factors can repress splicing when bound within an intron. Using in vitro splicing assays and Drosophila genetics we are determining how splicing activation and repression differ. A second interest of the lab is in genetic models for muscular dystrophy. Recently we have developed a transgenic Drosophila model for facioscapulohumeral muscular dystrophy (FSHD) a poorly understood late-onset disease that affects specific muscle groups in humans. We ...
RACINE - The Wisconsin Humane Society (WHS) is hosting a one year anniversary party of the Wisconsin Humane Society Racine Campus on Sunday, January 26, 2014 from 1:00 p.m. to 4:00 p.m. at the WHS Racine Campus, 2706 Chicory Rd., Racine, WI 53403. This event will feature an exciting raffle, facility tours, birthday cake, animal greeters and much more! RSVPs at www.wihumane.org are appreciated, but not necessary. A $5 donation will be suggested at the door to attend this fundraiser. This event is for humans only, please.. Since WHS acquired the Racine Campus in January 2013, adoptions have nearly doubled (from 880 to 1,680), 25% more stray animals were reunited with their families, and 722 animals from low-income families were spayed or neutered.. WHS is also soliciting online donations to help continue these efforts in 2014. The donation levels below represent a few of the items relied upon at the Racine Campus to help keep animals happy and healthy as they wait for their perfect match.. ...
Heres what she had to say: My lifes journey moved me to California in 1972 where I remain -moving from Southern to Northern in 1980 - good move. Ive made my home in the city of San Francisco since 1986 and love it. After many years in sales and computer oriented marketing, started my own company in 1988 which is where I am today producing large internet related events worldwide. Married for the last time in 1997 to my honey Peter, a San Francisco native. No children, I show photos of my home being remodeled instead of the kids ,Ha> Family is all still healthy. International travel is very much part of our lives along with enjoying the local culture and beauty. As a transferee from Sacred Heart to WHS in senior year Ive not kept in touch with WHS friends. Have run into several close friends from SH walking down the streets in SF. Hope to have a chance to see mates from WHS at the next reunion - Ill be there! Contact me at [email protected], would love to hear from you! Gretchen are you out ...
Our study provides new insights into mechanisms underlying the mitochondrial dysfunction in WFS1-deficient cells involving NCS1, a WFS1 interacting protein. We demonstrated that WFS1 interacted with the Ca2+ sensor NCS1 (39) and that NCS1 protein abundance was substantially decreased in WFS1-deficient cells. Addition of NCS1 to planar lipid bilayers or overexpression of NCS1 in PC12 cells results in increased IP3R channel activity (30-32), which should lead to increased Ca2+ release from the ER. In fibroblasts from our Wolfram syndrome patients, a decrease in Ca2+ flux from the ER was observed only under histamine application, whereas ER Ca2+ load was unchanged, suggesting a role of NCS1 in regulating IP3R activity. In addition, there was a concomitant decrease in the [Ca2+]m uptake. We further showed that ER-mitochondria structural interactions were reduced in patient cells, as evidenced by reduced interactions of two pairs of proteins at the MAM interface (VDAC1-IP3R1 and GRP75-IP3R1). This ...
Teva and the Huntington Study Group Announce Publication of Data for AUSTEDO™ (deutetrabenazine) Tablets in Huntington Disease from ARC-HD Study in JAMA Neurology
This MMSET WHSC1 NSD2 monoclonal antibody from Active Motif has been validated for use in Chromatin Immunoprecipitation (ChIP), immunofluorescence and Western blot.
Researchers at the University of Alberta (U of A) have discovered a promising new therapy for Huntington disease that restores lost motor skills and may delay or stop the progression of the disease based on lab model tests, says the lead researcher.
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Huntington residents seeking refuge from their powerless and cold homes now have a warmer alternative. Town Supervisor Frank Petrone on Friday announced a partnership with area religious and social s
Mihaela is a tutor in Huntington, TX (75949) : Im currently a year away from obtaining my PhD in School Psychology. As such, I have a lot of experience with normally developing children and teens,...
George R Beneke MD is a Urologist who practices in Huntington, WV. Get a full report about this doctors background by clicking here.
(Ensure that youve read The Divide post before putting much weight behind this one). One of the things that I seem to find myself butting my head against more often than not is the notion of hierarchy. At least thats what a cursory understanding may imply, but digging deeper to try and express what Im…
And indeed sequence (a) is certainly not random; in fact it is purely repetitive. And in general it is fairly easy to see that... - from A New Kind of Science
TY - JOUR. T1 - The Rieger syndrome. AU - Jorgenson, R. J.. AU - Levin, L. S.. AU - Cross, Harold E. AU - Yoder, F.. AU - Kelly, T. E.. PY - 1978. Y1 - 1978. N2 - Fourteen patients with hypodontia and the ocular features of the Rieger syndrome were examined for the presence of systemic anomalies. A periumbilical defect that consisted of failure of the periumbilical skin to involute was seen in ten of the thirteen evaluated for the defect. Three others had scars over the umbilical area and had a history of surgery for herniation. In addition, four males in one family and one male from another family had hypospadias. None of several other anomalies reported to be components of the Rieger syndrome by other authors was detected in the fourteen patients. The mode of inheritance in the familial cases studied was compatible with autosomal dominance. The results of this study indicate that the Rieger syndrome is an autosomal dominant syndrome whose cardinal features are hypodontia, goniodysgenesis, and ...
Abnova 16q Subtelomere (DEAC) FISH Probe 1 Set Life Sciences:Biochemicals and Reagents:Fluorescent in situ hybridization (FisH) Reagents
Wolf-Hirschhorn parents, family members, doctors and therapists are rising up and I LIKE IT. The crowd is getting motivated to produce change and that makes my little heart go "pitter-patter" with excitement. We are no longer willing to let outdated scientific studies with gloomy photographs of emotionless kids in corners, poor prognosis and all-encompassing phrases like […]. Continue Reading → ...
Huntingtons disease is a genetic disorder characterized by progressive degeneration of the nerve cells in the brain. The symptoms of the disease usually
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An expert team evokes a provocative, pleasing How I Learned What I Learned at Huntington Theatre Company, says Jeremy D. Goodwin.
Close approaches [to core discoveries] The basic phenomena in this chapter have come at least somewhat close to being discovered... - from A New Kind of Science
Effect of Qter® treatment on ATP, protein content and cell growth in H9c2 cells.H9c2 cells were treated up to 72 hours with 100 nM Qter® and the ATP content w
Sommelier Brad Owen leads an in-depth lecture and tasting exploring the wines of Spain, which are considered among the greatest in the world.
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Baltimore, Md. - Researchers at the Kennedy Krieger Institute recently announced study findings showing the successful development of a humanized preclinical model for facioscapulohumeral muscular dystrophy (FSHD), providing scientists with a much needed tool to accelerate novel therapeutic research and development.
Our study of 97 infants with ALL (80/97 with MLL-R), accrued to COG Infant ALL Trial P9407, represents the largest cohort of infants reported to date to undergo gene expression profiling. The 5-year EFS among these infants was very poor (41%), with superior survivals seen among infants with MLL-G, age more than 90 days, and low WBC counts at disease presentation. Expression profiling initially identified a number of genes that were significantly associated with EFS in the infant cohort (EPS8, TACC2, FLT3, MEIS1, and IL1R2), including genes known to play a role in MLL-mediated leukemogenesis (MEIS1), tumor progression (STAB1), and therapeutic resistance in T-cell malignancies (KCNK12).24,25 Pathways analyses further demonstrated complex interaction patterns among these genes, all converging on the adaptor protein GRB2 that plays a critical role in tyrosine kinase and Ras cell-signaling pathways (detailed analysis in supplemental Figure 5).. Our final model predictive of outcome in the entire ...
TY - JOUR. T1 - Indexing disease progression at study entry with individuals at-risk for Huntington disease. AU - Zhang, Ying. AU - Long, Jeffrey D.. AU - Mills, James A.. AU - Warner, John H.. AU - Lu, Wenjing. AU - Paulsen, Jane S.. PY - 2011/12/1. Y1 - 2011/12/1. N2 - The identification of clinical and biological markers of disease in persons at risk for Huntington disease (HD) has increased in efforts to better quantify and characterize the epoch of prodrome prior to clinical diagnosis. Such efforts are critical in the design and implementation of clinical trials for HD so that interventions can occur at a time most likely to increase neuronal survival and maximize daily functioning. A prime consideration in the examination of prodromal individuals is their proximity to diagnosis. It is necessary to quantify proximity so that individual differences in key marker variables can be properly interpreted. We take a data-driven approach to develop an index that can be viewed as a proxy for time to ...
Tobacco may trigger early onset of pancreatic cancer in those with a genetic predisposition to the disease, according to a new study. Pancreatic
I visited this WHS in July 2016. Unknowingly I must have surely passed by parts of this inscribed site when visiting Hillerod a couple of years ago. This time round I was determined to visit the three main parts that make up this WHS. There is very limited information on this WHS, both online but especially by way of information boards or road signs. Since there was an exhibition dedicated to the Par Force hunting landscape as a WHS, I decided to start by visiting the Danish Museum of Hunting and Forestry (closed on Mondays) in Horsholm. Im wasnt very keen to visit a collection of stuffed animals, hunting exhibits and forestry items but at least I was able to get some more information on this site in North Zealand. The exhibition (not worth the entrance ticket) is just a couple of information boards which would be much more helpful if they were placed at the sites themselves. From Holsholm I drove towards Gribskov Forest which is the least interesting of the three locations. It is a large ...
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STATISTICS. Lourens, S., Zhang, Y., Long, J.D., Paulsen, J.S. (2014) Analysis of longitudinal censored semicontinuous data with application to the study of executive dysfunction: The Towers Task. Statistical Methods in Medical Research, Epub ahead of print , Full article. Zhang Y, Long JD, Mills JA, Warner JH, Lu W, Paulsen JS, and the PREDICT-HD Investigators of the Huntington Study Group. (2011). Indexing disease progression at study entry with individuals at-risk for Huntington disease. Am J Med Genet B: Neuropsychiatric Genet, 156(7), 751-763 , Easy-to-understand summary , Full article (free) Langbehn DR, Hayden MR, Paulsen JS. CAG-repeat length and the age of onset in Huntington disease (HD): A review and validation study of statistical approaches. Am J Med Genet B Neuropsychiatr Genet. 2010 Feb;153B:397-408 , Full article (free). Langbehn DR, Paulsen JS. Predictors of diagnosis in Huntington disease. Neurology. 2007 May 15;68(20):1710-7 , Full article. Langbehn DR, Brinkman RR, Falush D, ...
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Wolf-Hirschhorn syndrome candidate gene-1 (WHSC1), a histone methyltransferase, has been found to be upregulated and its expression to be correlated with expression of enhancer of zeste homolog 2 (EZH2) in several cancers. In this study, we evaluated the role of WHSC1 and its therapeutic significance in ovarian clear cell carcinoma (OCCC). First, we analyzed WHSC1 expression by quantitative PCR and immunohistochemistry using 23 clinical OCCC specimens. Second, the involvement of WHSC1 in OCCC cell proliferation was evaluated by MTT assays after siRNA-mediated WHSC1 knockdown. We also performed flow cytometry (FACS) to address the effect of WHSC1 on cell cycle. To examine the functional relationship between EZH2 and WHSC1, we knocked down EZH2 using siRNAs and checked the expression levels of WHSC1 and its histone mark H3K36m2 in OCCC cell lines. Finally, we checked WHSC1 expression after treatment with the selective inhibitor, GSK126. Both quantitative PCR and immunohistochemical analysis revealed that
Individually, all myopathies are classified as rare disorders by the NIH Office of Rare Diseases, and Orphanet, which respectively define rare diseases as those affecting less than 200,000 people in the US and 1 in 2,000 Europeans (INSERM and French Ministry of Health 2008; National Institutes of Health Office of Rare Diseases Research 2009). Among all muscular dystrophies, X-linked recessive Duchenne muscular dystrophy (DMD) is the most common (1/3,500 newborn males; Flanigan et al. 2001), followed by the dominant disorders, myotonic dystrophy type 1 (DM1; 1/8,000; Harper 1989) and facioscapulohumeral muscular dystrophy (FSHD; 1/15,000-20,000; Flanigan et al. 2001; Tawil and Van Der Maarel 2006). However, a recent Orphanet report of disease prevalence in Europe places FSHD first, followed by DMD. Department of Pediatrics and Center for Gene Therapy, The Ohio State University, Columbus, OH, 43205, USA. e-mail: [email protected]. DOI 10.1007/978-1-4419-1207-7_7, © Springer Science+Business ...
There are 46 chromosomes in a human, 23 pairs. Everyone has a set of chromosomes from their father and a matching set from ... They include a pair of sex chromosomes. The mother's eggs always contain an X chromosome, while the father's sperm contains ... Chromosomes come in pairs: one set from the mother; the other set from the father. Cytologists label chromosomes with numbers.[ ... Polytene chromosomes are over-sized chromosomes which have developed from standard chromosomes. Specialized cells undergo ...
... a type-B human may actually be more closely related to type-B chimp than type-B human is related to type-A human, from the ... One lungfish has the record for largest genome at 133 billion base pairs compared to our 3 billion base pairs. ... An example of heterozygote advantage is that the males who have only 1 copy of the X-chromosome, remained dichromats with ... Timeline of human evolution. References[edit]. *^ a b c d Dawkins, Richard; Wong, Yan (2016). The Ancestor's Tale: A Pilgrimage ...
... never have more than three pairs.[43] Using this criterion, the earliest known metatherian is Sinodelphys szalayi, which lived ... The ancestral number of chromosomes has been estimated to be 2n = 14. ... 62 (4): 597-603. Retrieved 17 July 2016.. *^ a b Yonezawa, T.; Segawa, T.; Mori, H.; Campos, P. F.; Hongoh, Y.; Endo, H.; ... metatherians possess four pairs of molar teeth in each jaw, whereas eutherian mammals (including true placentals) ...
Traut, W.; Marec, F. (August 1997). "Sex Chromosome Differentiation in Some Species of Lepidoptera (Insecta)". Chromosome ... Butterfly caterpillars have three pairs of true legs on the thoracic segments and up to six pairs of prolegs arising from the ... "Human Rights Watch. 24 September 2014. Retrieved 8 September 2015. a 22-year-old transgender woman sports a tattoo of a ... Each of the three thoracic segments has two legs (among nymphalids, the first pair is reduced and the insects walk on four legs ...
In humans, the major route of excretion of most arsenic compounds is via the urine. The biological half-life of inorganic ... Arsenic is reported to cause DNA modifications such as aneuploidy, micronuclei formation, chromosome abnormality, deletion ... which interacts with the arsenic lone pair to form an As−C bond, leaving SAH.[31] ... Jomova, K; Jenisova, Z (2011). "Arsenic: Toxicity, oxidative stress and human disease". Journal of Applied Toxicology. 31 (2): ...
Some genes come from only one parent, like genes on the human Y chromosome which is passed only from father to son. ... and that his seven traits each occur on a separate chromosome pair, an extremely unlikely occurrence if they were chosen at ... Genetics of human behaviourEdit. Many well-known disorders of human behaviour have a genetic component. This means that their ... Since human beings are not bred experimentally, human genetics must be studied by other means. One recent way is by studying ...
Yi W, Wu X, Lee TH, Doggett NA, Her C (Jul 2005). "Two variants of MutS homolog hMSH5: prevalence in humans and effects on ... "hMSH4-hMSH5 recognizes Holliday Junctions and forms a meiosis-specific sliding clamp that embraces homologous chromosomes". ... Her C, Wu X, Griswold MD, Zhou F (Feb 2003). "Human MutS homologue MSH4 physically interacts with von Hippel-Lindau tumor ... Räschle M, Dufner P, Marra G, Jiricny J (Jun 2002). "Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha ...
... highly variable or extremely numerous sequences that cannot be aligned solely by human effort. Instead, human knowledge is ... Although DNA and RNA nucleotide bases are more similar to each other than are amino acids, the conservation of base pairs can ... for example a chromosome sequence). In that case, the short sequence should be globally (fully) aligned but only a local ( ... A DNA dot plot of a human zinc finger transcription factor (GenBank ID NM_002383), showing regional self-similarity. The main ...
This breakthrough helped further relate OCD in humans to CCD in canines. Canine chromosome 7 is expressed in the hippocampus of ... Rats became significantly more tolerant to morphine when they had been exposed to a paired administration than those rats that ... It can be difficult to attribute human afflictions to non-human animals.[13] ... A chromosome has been located in dogs that confers a high risk of susceptibility to OCD.[20] Canine chromosome 7 has been found ...
The DNA of chromosome 1 in the human genome has about 249 million base pairs, each with an average mass of about 650 Da, or 156 ... 26 (1): 4-7.. *^ Perrin, Jean (1909). "Mouvement brownien et réalité moléculaire". Annales de Chimie et de Physique. 8e Série. ... doi:10.1088/0026-1394/49/4/487.. *^ International Bureau for Weights and Measures (2017): Proceedings of the 106th meeting of ... This is an intrinsic property of the isotope and all helium-4 have the same mass. Acetylsalicylic acid (aspirin), C. 9H. 8O. 4 ...
In South Indian weddings, particularly Tamil weddings, banana trees are tied in pairs to form an arch as a blessing to the ... There is a long racist history of describing people of African descent as being more like monkeys than humans, and due to the ... Cultivars are placed in groups based on the number of chromosomes they have and which species they are derived from. Thus the ... The human body maintains relatively tight homeostatic control over potassium levels. This means that the consumption of foods ...
The sequence of base pairs is transcribed from DNA by an enzyme called RNA polymerase. Then the mRNA moves from the nucleus to ... DNA is a very long molecule, and is bound in with proteins, called histones, in the chromosomes. mRNA, on the other hand is ... "Unlocking the potential of the human genome with RNA interference". Nature. 431: 371-8. doi:10.1038/nature02870. PMID 15372045 ... The mRNA translates the sequence of base pairs into a sequence of amino acids to form proteins. This process is called ...
Albrecht B, Weber K, Pongs O (1995). "Characterization of a voltage-activated K-channel gene cluster on human chromosome 12p13 ... The edited adenosine is found in a 6-base pair duplex region. Mutation experiment in the region near the 6-base pair duplex ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. .mw-parser-output ... "KCNA1 - Potassium voltage-gated channel subfamily A member 1 - Homo sapiens (Human) - KCNA1 gene & protein". www.uniprot.org.. ...
"The American Journal of Human Genetics. 93 (6): 999-1000. doi:10.1016/j.ajhg.2013.11.001. PMC 3852927.. ... The changes in the evening primrose were later shown to be caused by chromosome duplications (polyploidy) rather than gene ... four or five pairs of possible allelomorphs, the various homo- and hetero-zygous combinations might, on seriation, give so near ... 159 (4): 1383-1392.. *^ De Vries, Hugo (1922). Willis, J. C. (ed.). Age and Area and the Mutation Theory. Age and Area. A Study ...
The Science Behind the Human Genome Project Archived 2 January 2013 at the Wayback Machine Human Genome Project Information, US ... The aphid species can be identified by color, time of year, and by differences in the cornicles (small paired projections from ... yielding unequal segregation of the chromosomes (aneuploids). Even in the case when a triploid plant can produce a seed (apples ... The larynx in the human throat has been called the "Adam's apple" because of a notion that it was caused by the forbidden fruit ...
In a diploid cell retrieval may also occur by pairing with a non-sister homologous chromosome, as occurs especially during ... In humans, the leading cause of cancer deaths worldwide is lung cancer, including non small cell lung carcinoma (NSCLC) which ... Retrieval can occur by pairing with a sister chromosome produced during a preceding round of replication. ... Therefore, accurate repair of the damage depends on retrieving the lost information from an undamaged homologous chromosome in ...
This chromosome is a circular DNA molecule which contains 5,342,073 nucleotide pairs and 5,043 genes, of which 4,988 encode ... it is used by humans for the production of biofertilizers, food additives, and some biopolymers. The first representative of ... The fraction of guanine + cytosine pairs is 65 mole percent. The number of chromosomes in the cells and the DNA content ... The nucleotide sequence of chromosomes of Azotobacter vinelandii, strain AvOP, is partially determined. ...
... such as in chromosome 1. Chromosome 1 is the largest human chromosome with approximately 220 million base pairs, and would be ... The set of chromosomes in a cell makes up its genome; the human genome has approximately 3 billion base pairs of DNA arranged ... Adenine pairs with thymine and guanine pairs with cytosine, forming A-T and G-C base pairs.[18][19] ... A Hoogsteen base pair is a rare variation of base-pairing.[27] As hydrogen bonds are not covalent, they can be broken and ...
Some anticodons can pair with more than one codon due to a phenomenon known as wobble base pairing. Frequently, the first ... International Human Genome Sequencing Consortium) (February 2001). "Initial sequencing and analysis of the human genome" (PDF) ... These genes are found on all chromosomes, except the 22 and Y chromosome. High clustering on 6p is observed (140 tRNA genes), ... The acceptor stem is a 7- to 9-base pair (bp) stem made by the base pairing of the 5'-terminal nucleotide with the 3'-terminal ...
... chromosome translocation in a human leukemia T-cell line indicates that putative regulatory regions are not altered". Proc. ... 3.2) Paired box. PAX (1, 2, 3, 4, 5, 6, 7, 8, 9) ... to the human c-myc oncogene; presence of a long inverted repeat ... Astrin SM, Laurence J (1992). "Human immunodeficiency virus activates c-myc and Epstein-Barr virus in human B lymphocytes". Ann ... ARX • CDX (1, 2) • CRX • CUTL1 • DBX (1, 2) • DLX (3, 4, 5) • EMX2 • EN (1, 2) • FHL (1, 2, 3) • HESX1 • HHEX • HLX • Homeobox ...
The chapters are numbered for the pairs of human chromosomes, one pair being the X and Y sex chromosomes, so the numbering goes ... The book devotes one chapter to each pair of human chromosomes. Since one (unnumbered) chapter is required to discuss the sex ... the chapters matching the 23 pairs of human chromosomes, and notes that Genome is the third of Ridley's books that "tries to ... The impact of stress on the human body is described starting with the creation of hormones by the CYP17 gene on chromosome 10. ...
G. David Poznik et al., 2016, "Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences ... Pair-non-Pair. Pech Merle. Roc-aux-Sorciers. Renne. Trois Frères. Villars. Other caves. Arago. Aurignac. Azé. Balauzière. Bonne ... "Oase 1" exhibits morphological traits from early modern humans and archaic humans, including Neanderthal features.[7] ... Human population history and its interplay with natural selection. University of Cambridge (Thesis). doi:10.17863/CAM.31536.. ...
... pairs of assigned females. Among dizygotic or genetically non-identical twin pairs, there was only 1 of 38 (2.6%) pairs where ... Research has shown that people with CAH and XX chromosomes will be more likely to be same sex attracted,[25] and at least 5.2% ... Gooren L (November 2006). "The biology of human psychosexual differentiation". Hormones and Behavior. 50 (4): 589-601. doi: ... In 2013, a twin study combined a survey of pairs of twins where one or both had undergone, or had plans and medical approval to ...
Toll-like receptor 2 also known as TLR2 is a protein that in humans is encoded by the TLR2 gene.[5] TLR2 has also been ... paired with TLR-1 or TLR-6. TLR2 is also found in the epithelia of air passages, pulmonary alveoli, renal tubules, and the ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. .mw-parser-output ... TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen- ...
... more than 1 million pairs), Sweden (61,000 pairs), Finland (39,000 pairs) and Norway (14,000 pairs). Although it also breeds ... In 2016, two studies further pinpointed the responsible region to chromosome 11 and a 4.5-Mb covering chromosomal rearrangement ... Relationship with humans[edit]. 1897 illustration of ruffs being trapped for food with a net ... The European population of 200,000-510,000 pairs, occupying more than half of the total breeding range, seems to have declined ...
Unlike other chromosomes, Y chromosomes generally do not come in pairs. Every human male (excepting those with XYY syndrome) ... A human male should largely share the same Y chromosome as his father, give or take a few mutations; thus Y chromosomes tend to ... which in fact have been investigated in humans by the International HapMap Project.[5][6] Thirdly, many human genetic testing ... "American Journal of Human Genetics. 89 (3): 382-397. doi:10.1016/j.ajhg.2011.07.023. PMC 3169815. PMID 21855840.. ...
Karyotype of a human being, showing 22 pair of autosomal chromosomes and both the XX female and the XY male possibilities for ... As other non-human extant hominidae have 48 chromosomes it is believed that the human chromosome 2 is the end result of the ... Males have XY sex chromosomes and females have XX sex chromosomes. The sex chromosomes are the largest chromosomes and ... Shared synteny of human chromosome 17 loci in Canids. *An atlas of the chromosome numbers in animals (1951); PDF downloads of ...
Bacterial artificial chromosome (BAC) libraries of pulse crops are essential genomic resources that have the potential to ... Pulse crops are considered minor on a global scale despite their nutritional value for human consumption. Therefore, they are ... H. Shizuya, B. Birren, U. J. Kim et al., "Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in ... Bacterial Artificial Chromosome Libraries of Pulse Crops: Characteristics and Applications. Kangfu Yu. 1. 1Greenhouse and ...
novel protein similar to human and mouse leishmanolysin-like (metallopeptidase M8 family) (LMLN). 0.012. ... paired-like homeobox 2a. 0.022. dip2c. DIP2 disco-interacting protein 2 homolog C (Drosophila). 0.022. ... regulator of chromosome condensation 2. 0.030. tmem2. transmembrane protein 2. 0.029. zgc:110682. zgc:110682. 0.029. ...
Im human and shes a kid. Weve got a lot of learning to do.. I dont have a nice, clean ending for this post because this ... And a new pair of rain boots. I wear my old rain boots almost every day around the house and Mom says theyre two sizes too ... Apparently that one calendar year makes eggs very sticky and extra chromosomes can get attached where they didnt just a few ... Sure, Im 17 weeks pregnant and I can still wear size 4 jeans still buttoned (no elastic band through the button hole here) ...
The theology of the Orthodox Christian faith is very clear and unambiguous: all unborn human life is sacred and innocent human ... Nature itself, in the form of X & Y chromosome derangement genetic disorders, has made the strongest argument that there is ... The very idea that there is little difference between an "XX" and an "XY" chromosomal pair as evidenced by certain polyploidal ... John of Damascus, in his Exact Exposition of the Orthodox Faith, writes extensively & precisely in regard to matters of human ...
... sealing during cell process clearance in Caenorhabditis elegans Linear assembly of a human centromere on the Y chromosome ... Carbapenem resistance attenuates ST258 Klebsiella pneumoniae in vivo A library of human gut bacterial isolates paired with ... of human embryonic stem cells onto a partially wounded human cornea in vitro Small molecule mesengenic induction of human ... first-in-human trial Common germline variants of the human APOE gene modulate melanoma progression and survival In vivo ...
These include human C4b multimerization domains as well as a number of homologues of human C4b multimerization domain available ... an artificial chromosome vector, such as a yeast artificial chromosome vector. ... Relevant to the latter possibility is the observation that when the gl heavy chains (glHCs) of 3BNC60 and gl12A21 are paired ... VRC01-class bNAbs protect non-human primates from experimental simian/human HIV (SHIV)-infection and humanized mice from HIV-1 ...
The genome consists of a circular chromosome (3,996,255 bp) and a circular plasmid (382,976 bp). It encodes 3,861 putative ... Phenylobacterium zucineum is a recently identified facultative intracellular species isolated from the human leukemia cell line ... Sixteen pairs of histidine kinase and response regulator (1 in the plasmid) are adjacently aligned and may act as functional ... The preliminary data suggest that P. zucineum may invade humans.. Table 14 Human ESTs matching the genome sequences of P. ...
The organism has 4,214,810 base pairs which codes for 4100 protein coding genes. (6) It has a single, circular chromosome.(7)(8 ... it can be found in the gastrointestinal tract of humans but this is very rare. Many studies have been conducted by the FDA and ... This is so the chromosome can be protected within and then, and the bacteria genetic material is not harmed. (11) Another ... B. subtilis is apart of the kingdom Bacteria, which means this organism has a single circular chromosome within the nucleoid ...
Live-cell chromosome dynamics and outcome of X chromosome pairing events during ES cell differentiation. Cell 145, 447-458 ( ... Ma, H., Reyes-Gutierrez, P. & Pederson, T. Visualization of repetitive DNA sequences in human chromosomes with transcription ... Bystricky, K., Laroche, T., van Houwe, G., Blaszczyk, M. & Gasser, S. M. Chromosome looping in yeast: telomere pairing and ... a steered molecular dynamics study of human chromosome 19. PLoS Comput. Biol. 9, e1003019 (2013). ...
Chromosome territory arrangement and homologous pairing in nuclei of Arabidopsis thaliana are predominantly random except for ... Lombrana R, Almeida R, Alvarez A, Gomez M. R-loops and initiation of DNA replication in human cells: a missing link? Front ... Chromosome Res. 2006;14:71-82. Lister R, OMalley RC, Tonti-Filippini J, Gregory BD, Berry CC, Millar AH, Ecker JR. Highly ... Chromosome 4 of A. thaliana (Col-0 ecotype) contains a heterochromatic knob in its short arm, although other accessions, such ...
... a geneticist might hypothesize that the genes for hair color and eye color are located on the same chromosome. If a large group ... In studying the genetic association between hair and eye color in human beings, ... EXAMPLE 5.1b The color of ones eyes is determined by a single pair of genes, with the gene for brown eyes being dominant over ... In studying the genetic association between hair and eye color in human beings, a geneticist might hypothesize that the genes ...
... human enterovirus, human poliovirus, hepatitis A virus, human parechovirus, human rhinovirus), astroviruses (e.g., human ... Two pairs of nested PCR primers were used toamplify the gene encoding the Osp-A protein of B. burgdorfer under standard ... In addition, the methods can be used to identify natural or deliberate engineering events including chromosome fragment ... In the case of human blood, human DNA and RNA will be present in white blood cells, in addition to the nucleic acid present in ...
Chromosome. External id. - DATA AVAILABILITY -. Has protein data. - DATA RELIABILITY -. Reliability score tissue (IHC). ... The adrenal glands are paired endocrine glands attached on top of each kidney. Each gland consists of an outer cortex and an ... Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics. ... Tissue-based map of the human proteome. Science. PubMed: 25613900 DOI: 10.1126/science.1260419 Yu NY et al, 2015. Complementing ...
Chromosomes, Human, Pair 1 - genetics , Lomustine - administration & dosage , Original Reports , Neur7 , Neur8 , Neur1 ... Chromosomes, Human, Pair 19 - genetics , Disease-Free Survival , Oligodendroglioma - therapy , Procarbazine - adverse effects ... GROWTH-FACTOR RECEPTOR , ONCOLOGY-GROUP , THERAPY , ONCOLOGY , SQUAMOUS-CELL CARCINOMA , ANTIBODY , HUMAN-PAPILLOMAVIRUS , ... Humans , Middle Aged , Lung Neoplasms - radiotherapy , Lung Neoplasms - pathology , Male , Organs at Risk , Chemoradiotherapy ...
"Human retina": a human retinal tissue as a positive control. b RT-PCR analysis for the EYS gene. The regions for exon 4-11, ... We designed primer pairs nearly upstream to c.4957dupA (exon 24-25, 3640F-3818R) and compared the expression levels of EYS gene ... Defects in the EYS gene on chromosome 6q12 were found to be a major cause of autosomal recessive (ar) retinitis pigmentosa (RP ... Derivation of human differential photoreceptor cells from adult human dermal fibroblasts by defined combinations of CRX, RAX, ...
Human telomeric DNA consists of repeated sequences of TTAGG and extends over several thousand base pairs. Because guanine-rich ... antioxidantschromosomesDNAfree radicalsIsaGenix productsoxidative stressProduct BProduct B Antioxidants Telomere Support ... To those not familiar with what telomeres are, first think of your bodys DNA and chromosomes. At both ends of every strand of ... Scientific research suggests that a variety of consistent behaviors in humans in-vivo are available to alter the amount of ...
... see the link to All About the Human Genome Project (HGP) in the Other Internet Resources section below). What was conceived as ... In humans, the genome consists of 23 pairs of chromosomes, found in the nucleus, as well as a small chromosome found in the ... Not only is the human genome relatively large (roughly 3.2 billion base pairs (bps)) and of key interest to us as human beings ... In humans, a copy of the entire genome-more than 3 billion DNA base pairs-is contained in all cells that have a nucleus. (NIH ...
Our genome is approximately 3,000,000,000 base pairs long and is packaged into 23 pairs of chromosomes. ... In humans and other complex organisms, genes are split into coding (exons) and non-coding sequences (introns). These split ... An international biological research project, launched in 1990, with the goal of sequencing the human genome for the first time ... One of the four nucleotide bases that make up RNA (instead of thymine), pairs with adenine. ...
Fenvalerate-induced chromosome aberrations and sister chromatid exchanges in the bone marrow cells of mice in vivo. ... Visual paired comparison performance is impaired in a patient with selective hippocampal lesions and relatively intact item ... This finding suggests that the human system might be activated only at the interstitial-tissue space which contains negligible ... In this paper we study the lifetime of radical-pair entanglement corresponding to the magnitude and direction of magnetic ...
Figure Lengend Snippet: Optimization of cloning conditions . (A) PCR amplification of a target cDNA (human nAChR α9 subunit) ... Note that the primer pair for insert amplification has 16-base tails overlapping with the PCR-amplified vector ends. Step 2. ... disruption strategy for chromosomal insertion of chloramphenicol resistance gene from pKD3 into dam gene within UPEC chromosome ... Average 91 stars, based on 4 article reviews Price from $9.99 to $1999.99 nad nadh glotm assay kit - by Bioz Stars, 2020-07 91/ ...
So you believe the human Jesus whom other humans killed to be your god ??? You claim that evolutionary processes were used by ... How many sets of chromosomes do diploid populations have?. How many sets do each parent contribute?. How many sets do each ... What are the odds of such a pairing?. ReplyDelete. Replies. Reply ... A mutation does not occur at the same locus on both chromosomes ... Yeah, and how did dolphins get sonar? Did evolution degrade us humans? Are we really the top of the evolutionary tree?. ...
Tet only is human recombinase-expressing. These are Dawkins Vs Gould: Survival proteins for Histidine of curve of the MCEM ND, ... The Dawkins Vs Gould: Survival of the Fittest for the been approach tRNAs attempted good to the different Small pair-wise ... The modelling Dawkins Vs Gould: Survival of the and purpose delivery does voltage of subject chromosomes to be root-mean ... helix; which is that, in a human field, the OU mm involves to permit toward its specific subject. Dawkins Vs Gould: Survival of ...
UAS constructs: UAS neur (Weinmaster and Fischer, 2011; Lai et al., 2001), UAS neur-myc (third chromosome) and UAS neurΔRF-GFP ... stimulates endocytic recycling upon which the cis-pair is separated. Future work is needed to clarify whether the cis-pair ... Recent analysis indicates that human Mib1 (MIB1) binds to two peptide motifs in the ICD of the mammalian Ser ortholog Jagged1 ( ... These results raise the possibility that the binding of Neur might directly separate the Dl/Notch cis-pair or, as a possible ...
In two experiments, human participants received single- and difference between pantoprazole and protonix vs prilosec paired- ... The results indicated that the presence of chromosome 11 was essential for the expression of p250 T-cell activation antigen. ... Ribonucleolytic activity and antibacterial activity of recombinant human RNase 9 were detected, and the distribution of human ... In situ hybridization techniques allow a cell-type-specific messenger RNA (mRNA) analysis in complex tissues such as human skin ...
Chromosome damage caused by dipin in spermatogonial stem cells is irreversible, as evidenced by a sharp increase in the ... Primary cultures of human thyroid cells prepared from fragments discarded during the course of prescribed surgery were examined ... Understanding of RNA structure is frequently based on 2D structures, which describe only the Watson-Crick (WC) base pairs. Wnt ... Advantages and limitations of the human muscle pain models are discussed. Oral dissolution and prevention of recurrences of ...
  • There are 3,861 putative protein-coding genes (3,534 in the chromosome and 327 in the plasmid), of which 3,180 have significant matches in the non-redundant protein database. (biomedcentral.com)
  • Forty-two tRNA genes and one 16S-23S-5S rRNA operon were identified in the chromosome. (biomedcentral.com)
  • 4) Proteins involved in establishment of intracellular niche are TonB-dependent receptors (orange) and pilus genes (sienna). (biomedcentral.com)
  • In studying the genetic association between hair and eye color in human beings, a geneticist might hypothesize that the genes for hair color and eye color are located on the same chromosome. (transtutors.com)
  • If a large group of dark-haired and brown-eyed people were to intermarry with another large group of light-haired and blue-eyed people, Mendel's law could be used to predict the characteristics of the second generation if the genes for hair color and eye color were on different chromosomes. (transtutors.com)
  • EXAMPLE 5.1b The color of one's eyes is determined by a single pair of genes, with the gene for. (transtutors.com)
  • EXAMPLE 5.1b The color of one's eyes is determined by a single pair of genes, with the gene for brown eyes being dominant over the one for blue eyes. (transtutors.com)
  • The genes for all four of these cytokines are found on the same chromosome in humans, and IL-4, IL-5 and IL-13 are found on the same chromosome in mice. (creativebiomart.net)
  • Although expressions of cAR1 and aca, cAMP-signaling components, were rapidly induced and peaked at 2-4 h in wild-type cells, DdmGluPR-null cells displayed sustained and peaked at 8 h of the expressions of these genes. (saladgaffe.cf)
  • At least 3/4 of known genes and 1/2 of predicted genes are associated with CpG islands. (elsevier.com)
  • Both intriguing and perplexing is a distal chromosomal region with the greatest DNA similarity between surviving duplicated genes but also with the highest concentration of lineage-specific gene pairs found anywhere in these genomes and with a significantly elevated gene evolutionary rate. (plantcell.org)
  • Chromosome structural stratification, together with enrichment of autoimmune response-related (nucleotide binding site-leucine-rich repeat) genes and accelerated DNA rearrangement and gene loss, confer a striking resemblance of this grass chromosome pair to the sex chromosomes of other taxa. (plantcell.org)
  • Each chromosome consists of many genes and of DNA that does not code for any protein product. (glowm.com)
  • Chromosomes and genes exist in pairs-one of each pair derived from the mother, the other from the father. (glowm.com)
  • Like the lin-4 and let-7 genes, other microRNAs encode 21-25-nucleotide RNAs derived from longer transcripts that are predicted to form stem-loop structures. (biomedcentral.com)
  • In the initiation phase, the products of the gap and pair rule segmentation genes are responsible for initiating the parasegment-specific expression of the BX-C homeotic genes. (asm.org)
  • CepR and CciR inversely regulated flagellar-associated genes, the nematocidal protein AidA and a large gene cluster on Chromosome 3. (biomedcentral.com)
  • A recessive disorder is a condition or a genetic disease that occurs when there is a change or mutation in both the genes of a pair. (acimc.org)
  • A 25% chance (1 out of 4) that the child will inherit normal genes from both the parents and will neither be diseased nor a carrier of the disease. (acimc.org)
  • A 25% chance (1 out of 4) that the child will inherit mutated genes from both the parents and hence will be affected and be born with the disease. (acimc.org)
  • GABRQ gene is mapped to chromosome Xq28 in a cluster including the genes encoding the alpha 3 and epsilon subunits of the same receptor. (avivasysbio.com)
  • CMM derives from the transformation of melanocytes in skin due to accumulation of genetic alterations, likely involving in oncogenes and suppressor genes [ 4 ]. (ijbs.com)
  • 2004), The DNA sequence and biology of human chromosome 19.Nature 428:529-535. (sinobiological.com)
  • The overall amino acid sequence of the ASH3 was similar to that of the aerolysins of Aeromonas hydrophila and Aeromonas sobria, and hemolysins AHH3, AHH4, and AHH5 of A. This approach would clearly be useful in the analysis of mechanisms of regulation of human osteoclast formation if analogous results could be obtained in cultures of human bone marrow. (biaxin2020.site)
  • A new approach to rapid sequence comparison, basic local alignment search tool (BLAST), directly approximates alignments that optimize a measure of local similarity, the maximal segment pair (MSP) score. (scienceopen.com)
  • IPMK acts first in this metabolic sequence, by phosphorylating Ins(1,4,5) P 3 to Ins(1,3,4,5,6) P 5 , which IP5K then converts to Ins P 6 . (biologists.org)
  • Analysis of transfected K562, KD30, and KD225 cells in which FOXO3a activity can be induced by 4-hydroxytamoxifen showed that FOXO3a up-regulates ABCB1 expression at protein, mRNA, and gene promoter levels. (aacrjournals.org)
  • 4 markers a genomic site-specific shop lead with a story a mRNA regarding such a like longitudinal mTLR2. (arnold-germany.de)
  • The molecular characterization of the heterochronic gene lin-4 led to the surprising discovery that this gene encodes a 21-nucleotide non-coding RNA that regulates the translation of lin-14 mRNA through base-pairing with the lin-14 3' UTR [ 3 , 4 ]. (biomedcentral.com)
  • The 69th Annual Meeting of the American Society of Human Genetics will be held virtually from October 27 through October 31, 2020. (cshlpress.com)
  • Chronic myeloid leukemia is a malignant clonal hematopoietic stem cell disorder characterized by the expression of the Philadelphia chromosome, generated by a reciprocal translocation between the long arms of chromosomes 9 and 22 ( 10 ). (aacrjournals.org)
  • Comparison of rice ( Oryza sativa ), sorghum ( Sorghum bicolor ), maize ( Zea mays ), and Brachypodium distachyon genomes revealed that one paleo-duplicated chromosome pair has experienced very different evolution than all the others. (plantcell.org)
  • From the sequences of these RNAs and the sequences of the rat and human genomes we determined which of these small RNAs are likely to have derived from stem-loop precursors typical of microRNAs. (biomedcentral.com)
  • Down-regulation of DKK1 and Wnt1/β-catenin pathway by increased homeobox B7 resulted in cell differentiation suppression of intrauterine fetal growth retardation in human placenta. (tripdatabase.com)
  • Our findings further suggest a novel mechanism for chromosome 6-mediated suppression of tumorigenesis and metastasis, i.e., through increased cell death. (ijbs.com)
  • While it is generally assumed that the suppression is due to reduced cell proliferation, apoptotic features of CMM cell lines and the chromosome 6-mediated suppressed cell sublines have not yet been defined. (ijbs.com)
  • The data reported above, taken together with the known arguments in favor of the possible Genghis Khan‟s descent of Y-chromosome C3* star-cluster (Zerjal et al. (blogspot.com)
  • Here we show that Sph-1-P does not significantly affect PDGF-induced DNA synthesis, proliferation, or activation of mitogenic signal transduction pathways, such as the mitogen-activated protein (MAP) kinase cascade and PI 3-kinase, in human arterial SMC. (saladgaffe.tk)
  • Nuclear translocation of glutaminase GLS2 in human cancer cells associates with proliferation arrest and differentiation. (ist.ac.at)
  • Pulse crops are considered minor on a global scale despite their nutritional value for human consumption. (hindawi.com)
  • We Are submitted to prevent the form as new to using aquatic as vol.. food research protection plumpox argues program coat a plasmolysis the member will yield modified for years in the virus majority, true quotes, social crops, borer-infested and human authors. (inhaltspflege.de)
  • During meiosis of germ cells, each gamete (egg or sperm) should receive 23 chromosomes from the parental stem cell. (glowm.com)
  • 4) Engraftment studies with blood stem cells originating from cytapheresis samples of tumour patients or from cord blood were undertaken in NOD/SCID mice in order to define conditions of successful engraftment and to use this model for further optimisation strategies. (biaxin2020.site)
  • Scientists funded by the Medical Research Council (MRC) have successfully used adult human retinal stem cells to repair nerve cells damaged in glaucoma, partially restoring vision in rats. (regenerativemedicine.net)
  • The researchers looked at whether injecting a type of adult human stem cell, known as the M ller glia stem cell, could stimulate repair of damaged RGCs in an animal model. (regenerativemedicine.net)
  • 4. Frogs have been commonly used as a laboratory system for a very long period, and have an extensive history of producing crucial observations in countless fields of biology. (edu.au)
  • and lg2 is located on the long arm of chromosome 3 ( Beckett 1975 ). (g3journal.org)
  • Long-range temporal correlations in the broadband resting state activity of the human brain revealed by neuronal avalanches. (ist.ac.at)
  • The lumen was thought to be compatible to subretinal space of the human retina, which plays an important function in vision. (biomedcentral.com)
  • M ller glia are found in the retina of humans and other vertebrates and are multipotent, meaning they can grow into any of the different nerve cells found in the retina. (regenerativemedicine.net)
  • To characterize the proteolytic activity mediating MUC1 release, shedding of MUC1 was analyzed in a human uterine epithelial cell line (HES) that abundantly expresses and readily sheds MUC1. (biaxin2020.site)
  • Burkholderia cenocepacia belongs to a group of closely related organisms called the B. cepacia complex (Bcc) which are important opportunistic human pathogens. (biomedcentral.com)
  • In contrast, IL-13 does not bind the type I IL-4 receptor, but can bind the type II IL-4R or the decoy receptor IL-13Rα2, which is membrane-bound in humans and both membrane-bound and soluble in mice. (creativebiomart.net)
  • Type I IL-4 receptor is mainly expressed on hematopoietic cells, while type II IL-4 receptor is expressed ubiquitously, including on nonhematopoietic cells. (creativebiomart.net)
  • 1985), Human insulin receptor and its relationship to the tyrosine kinase family of oncogenes.Nature 313:756-761. (sinobiological.com)
  • Because not all surveys employed banding techniques, individual chromosomes within the group could not always be identified. (glowm.com)
  • Gene is a segment of the DNA that contains the codes of human body and monitors the growth and development of an individual. (acimc.org)
  • An individual is labeled a carrier when there is a change, called a mutation, in one gene of the pair while the other gene is normal. (acimc.org)
  • To identify the cell populations that mediate the responses to SP, we generated TLR2/4(-/-)-wild-type (wt) bone marrow (BM) chimeras. (bactrim2020.site)
  • Dynamic post-translational modifications (PTMs) occurring in the proximity of a gene promoter are one of the hallmarks of epigenetic regulation of gene expression [ 4 ]. (biomedcentral.com)
  • The degree of homology between IL-4 and IL-13 suggests that they originated through a gene duplication event. (creativebiomart.net)
  • Mitochondrial DNA (a total of 2,429 base pairs, encompassing a portion of the control region, tRNAPhe, a portion of the 12S rRNA gene, and the whole cytochrome B gene) was sequenced using a mixed sequencing procedure based on PCR amplification and 454 sequencing of pooled amplification products. (blogspot.com)
  • They were isolated from subsurface aquifer, alkaline groundwater, soil, activated sludge from a wastewater treatment plant, and the human leukemia cell line K562, respectively. (biomedcentral.com)
  • Binding of IL-4 or IL-13 to type II IL-4R mediates the tissue manifestations of allergic immunity including goblet cell hyperplasia and mucus secretion, smooth muscle contraction and the development of fibrosis. (creativebiomart.net)
  • A phase of mitosis in which the chromosomes have begun to be pulled to opposite poles of the cell. (edu.au)
  • Introduction of human chromosome 6 into malignant melanoma cell line UACC903 resulted in generation of the chromosome 6-mediated suppressed cell subline UACC903(+6) that displays attenuated growth rate, anchorage-dependency, and reduced tumorigenicity. (ijbs.com)
  • This study utilized human CMM cell line UACC903 and the chromosome 6-mediated suppressed cell subline UACC903(+6) [ 5 ]. (ijbs.com)
  • We are optimistic that after further work on animal models to perfect our transplantation technique we will be in a good position to start early-stage clinical trials on humans in around 3 to 5 years. (regenerativemedicine.net)
  • Binding of IL-4 to IL-4Rα leads to sequential activation of JAK-1 and STAT-6, which leads to the downstream effector functions of this cytokine. (creativebiomart.net)
  • Pulse crop seeds, which are important for human nutrition, typically have 20-25% protein and 40-50% starch, are rich in dietary fibre, and usually have only small amounts of oil. (hindawi.com)
  • However, it is important to note that differential affinities and binding patterns of IL-4 and IL-13 to the type II IL-4R are such that IL-13 is likely a more potent driver of type II IL-4R signaling. (creativebiomart.net)
  • generally in the acing the of a human power for book, but not by using health to a content production of growing European, and expected with an permit of ethical mathematics. (atlantaflyfishingschool.com)