Gene Duplication: Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.Chromosome Duplication: An aberration in which an extra chromosome or a chromosomal segment is made.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)DNA Replication: The process by which a DNA molecule is duplicated.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.Segmental Duplications, Genomic: Low-copy (2-50) repetitive DNA elements that are highly homologous and range in size from 1000 to 400,000 base pairs.Chromosomes, Bacterial: Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosomes, Human, Pair 17: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosome Segregation: The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.Chromosome Deletion: Actual loss of portion of a chromosome.Chromosomes, Human, Pair 11: A specific pair of GROUP C 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, Human, Pair 6: A specific pair GROUP C CHROMSOMES of the human chromosome classification.Chromosomes, Human, Pair 9: A specific pair of GROUP C CHROMSOMES of the human chromosome classification.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Chromosomes, Human, Pair 21: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosomes, Fungal: Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.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.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.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.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, X: The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all 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, Mammalian: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.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, Pair 15: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 10: 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.Karyotyping: Mapping of the KARYOTYPE of a cell.Chromosomes, Human, Pair 13: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 4: A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 8: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.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)Chromosome Pairing: The alignment of CHROMOSOMES at homologous sequences.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Chromosomes, Human, Pair 19: A specific pair of GROUP F 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, Pair 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.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.Chromosome Breakage: A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.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.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.Chromosomes, Human, Pair 14: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.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, Pair 18: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.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.Chromosomes, Human, Pair 20: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.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.Genes, Duplicate: Two identical genes showing the same phenotypic action but localized in different regions of a chromosome or on different chromosomes. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)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.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.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.Ring Chromosomes: Aberrant chromosomes with no ends, i.e., circular.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.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.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.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.Chromosome Positioning: The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.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.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.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Chromosomes, Insect: Structures within the CELL NUCLEUS of insect cells containing DNA.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.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.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.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).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.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.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).Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.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.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.Chromosome Structures: Structures which are contained in or part of CHROMOSOMES.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.Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.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.Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.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.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).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.Abnormalities, MultiplePolyploidy: The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.Tandem Repeat Sequences: Copies of DNA sequences which lie adjacent to each other in the same orientation (direct tandem repeats) or in the opposite direction to each other (INVERTED TANDEM REPEATS).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).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.Genome, Plant: The genetic complement of a plant (PLANTS) as represented in its DNA.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.Pseudogenes: Genes bearing close resemblance to known genes at different loci, but rendered non-functional by additions or deletions in structure that prevent normal transcription or translation. When lacking introns and containing a poly-A segment near the downstream end (as a result of reverse copying from processed nuclear RNA into double-stranded DNA), they are called processed genes.Genetic Variation: Genotypic differences observed among individuals in a population.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)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 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.Biological Evolution: The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.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."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.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.Comparative Genomic Hybridization: A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences. It is used to look for large sequence changes such as deletions, duplications, amplifications, or translocations.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.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.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.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)Centrosome: The cell center, consisting of a pair of CENTRIOLES surrounded by a cloud of amorphous material called the pericentriolar region. During interphase, the centrosome nucleates microtubule outgrowth. The centrosome duplicates and, during mitosis, separates to form the two poles of the mitotic spindle (MITOTIC SPINDLE APPARATUS).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.Centrioles: Self-replicating, short, fibrous, rod-shaped organelles. Each centriole is a short cylinder containing nine pairs of peripheral microtubules, arranged so as to form the wall of the cylinder.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.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.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.Vertebrates: Animals having a vertebral column, members of the phylum Chordata, subphylum Craniata comprising mammals, birds, reptiles, amphibians, and fishes.Synteny: The presence of two or more genetic loci on the same chromosome. Extensions of this original definition refer to the similarity in content and organization between chromosomes, of different species for example.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.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.Diploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.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.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.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.Genes, Plant: The functional hereditary units of PLANTS.Kinetochores: Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.Chromosome Breakpoints: The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.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.Chromosomal Instability: An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.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.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).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.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.DNA Copy Number Variations: Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.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.Contig Mapping: Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.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.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)Digestive System Abnormalities: Congenital structural abnormalities of the DIGESTIVE SYSTEM.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.Chromosome Fragility: Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.Cosmids: Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.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.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.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Gene Order: The sequential location of genes on a chromosome.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.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.Genomics: The systematic study of the complete DNA sequences (GENOME) of organisms.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)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.Conserved Sequence: A sequence of amino acids in a polypeptide or of nucleotides in DNA or RNA that is similar across multiple species. A known set of conserved sequences is represented by a CONSENSUS SEQUENCE. AMINO ACID MOTIFS are often composed of conserved sequences.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.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.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.DNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Selection, Genetic: Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.Genes, Insect: The functional hereditary units of INSECTS.Pelizaeus-Merzbacher Disease: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Cell Line: Established cell cultures that have the potential to propagate indefinitely.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.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.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.DNA, Plant: Deoxyribonucleic acid that makes up the genetic material of plants.Genome, Fungal: The complete gene complement contained in a set of chromosomes in a fungus.Syndrome: A characteristic symptom complex.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.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.Ploidies: The degree of replication of the chromosome set in the karyotype.Haploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.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.Genes, X-Linked: Genes that are located on the X CHROMOSOME.Oryza sativa: Annual cereal grass of the family POACEAE and its edible starchy grain, rice, which is the staple food of roughly one-half of the world's population.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.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).DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Genes, Bacterial: The functional hereditary units of BACTERIA.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.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.fms-Like Tyrosine Kinase 3: A receptor tyrosine kinase that is involved in HEMATOPOIESIS. It is closely related to FMS PROTO-ONCOGENE PROTEIN and is commonly mutated in acute MYELOID LEUKEMIA.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.Genes, Fungal: The functional hereditary units of FUNGI.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.Homozygote: An individual in which both alleles at a given locus are identical.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Charcot-Marie-Tooth Disease: A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)Polytene Chromosomes: Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.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)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.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.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.Monosomy: The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.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)

Genomic profile of copy number variants on the short arm of human chromosome 8. (1/99)

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A single-tube quantitative high-resolution melting curve method for parent-of-origin determination of 15q duplications. (2/99)

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Array-CGH and quantitative PCR genetic analysis in a case with bilateral hypoplasia of pulmonary arteries and lungs and simultaneous unilateral renal agenesis. (3/99)

We describe the clinical course and have characterised anatomically and genetically a unique case of a newborn with bilateral hypoplasia of pulmonary arteries, consecutive extremely hypoplastic lung tissue and associated unilateral renal agenesis. Intrauterine oxygenation by the placenta seemed to have allowed normotrophic body maturity but immediately after delivery, in the third trimester, progressive hypoxemia developed and the newborn succumbed to acute respiratory failure. Genetic analysis by array-based comparative genomic hybridisation and quantitative PCR revealed duplication of 1p21, which, however, might not be the disease causing aberration. This case might represent an extreme form of previously reported, rare cases with simultaneous dysorganogenesis of lungs and kidneys.  (+info)

MIRA-SNuPE, a quantitative, multiplex method for measuring allele-specific DNA methylation. (4/99)

5-methyl-C (5mC) and 5-hydroxymethyl-C (5hmC) are epigenetic marks with well known and putative roles in gene regulation, respectively. These two DNA covalent modifications cannot be distinguished by bisulfite sequencing or restriction digestion, the standard methods of 5mC detection. The methylated CpG island recovery assay (MIRA), however, specifically detects 5mC but not 5hmC. We further developed MIRA for the analysis of allele-specific CpG methylation at differentially methylated regions (DMRs) of imprinted genes. MIRA specifically distinguished between the parental alleles by capturing the paternally methylated H19/Igf2 DMR and maternally methylated KvDMR1 in mouse embryo fibroblasts (MEFs) carrying paternal and maternal duplication of mouse distal Chr7, respectively. MIRA in combination with multiplex single nucleotide primer extension (SNuPE) assays specifically captured the methylated parental allele from normal cells at a set of maternally and paternally methylated DMRs. The assay correctly recognized aberrant biallelic methylation in a case of loss-of imprinting. The MIRA-SNuPE assays revealed that placenta exhibited less DNA methylation bias at DMRs compared to yolk sac, amnion, brain, heart, kidney, liver and muscle. This method should be useful for the analysis of allele-specific methylation events related to genomic imprinting, X chromosome inactivation and for verifying and screening haplotype-associated methylation differences in the human population.  (+info)

Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia. (5/99)

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Advanced age increases chromosome structural abnormalities in human spermatozoa. (6/99)

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Phenotypic manifestations of copy number variation in chromosome 16p13.11. (7/99)

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Visualization of fine-scale genomic structure by oligonucleotide-based high-resolution FISH. (8/99)

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Abstract: Abstract Background The inability to analyze gene expression in living neurons from Angelman (AS) and Duplication 15q (Dup15q) syndrome subjects has limited our understanding of these disorders at the molecular level. Method Here, we use dental pulp stem cells (DPSC) from AS deletion, 15q Duplication, and neurotypical control subjects for whole transcriptome analysis. We identified 20 genes unique to AS neurons, 120 genes unique to 15q duplication, and 3 shared transcripts that were differentially expressed in DPSC neurons vs controls. Results Copy number correlated with gene expression for most genes across the 15q11.2-q13.1 critical region. Two thirds of the genes differentially expressed in 15q duplication neurons were downregulated compared to controls including several transcription factors, while in AS differential expression was restricted primarily to the 15q region. Here, we show significant downregulation of the transcription factors FOXO1 and HAND2 in neurons from 15q ...
Article 1 Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder Sureni V Mullegama et al. The European Journal of Human Genetics (2013), 1-7 This article describes a new chromosome duplication syndrome, 2q23.1 duplication. This duplication includes the MBD5 gene, the same gene involved in the 2q23.1 deletion syndrome.…
The first hints of the complex organization of the maize genome came from cytological studies. Although maize is diploid, early studies by McClintock (3, 4) demonstrated the association of nonhomologous chromosomes during meiosis. Later studies documented the formation of bivalents and multivalents in maize haploids (5, 6). Altogether, cytological observations suggested that the maize genome contains extensive regions of homology, probably reflecting chromosomal duplications.. Evidence for chromosomal duplication also came from linkage information. In 1951, Rhoades (7, 8) noted that some regions of linkage maps did not contain mutants, and he proposed that the lack of mutants reflected genetic redundancy caused by chromosomal duplication. Rhoades proposal has since been supported by molecular data. For example, isozyme studies have documented the presence of duplicated, linked loci in maize (9-12), and restriction fragment length polymorphism mapping studies have shown that many markers map to ...
TY - JOUR. T1 - A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies. AU - Zahir, Farah R.. AU - Langlois, Sylvie. AU - Gall, Kim. AU - Eydoux, Patrice. AU - Marra, Marco A.. AU - Friedman, Jan M.. PY - 2009/6. Y1 - 2009/6. N2 - We report on a 14-year-old girl with mild cognitive impairment, deafness, and an unusual pattern of anomalies associated with a previously unreported de novo duplication of chromosome 17q21.33. The 1.1 Mb duplication was detected by Affymetrix 100K GeneChip® array genome hybridization and involves the genomic region between 45,093,544 and 46,196,038 base pairs on chromosome 17 (NCBI build 36.1). The patient has microcephaly, unusual cup-shaped ears, scoliosis and other skeletal defects. Two genes involved in the duplicated region, PPP1R9B and COL1A1, are strong candidates for producing her phenotype.. AB - We report on a 14-year-old girl with mild cognitive impairment, deafness, and an unusual pattern of anomalies ...
Chromosome 5q duplication syndrome information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
Failure to Diagnose Chromosome 12q duplication syndrome including overlooked symptoms and complications for under-diagnosed medical conditions.
In the last years pioneer studies have presented first analysis methods for genome data in a disease context. Several data quality control and statistical methods are now well established and more and more data is available for application. This weeks studies point out the importance of thinking outside the box as well as data dissecting from a different perspective.. Ohnologs and CNVs. Is a specific class of genes overrepresented in large recurrent pathogenic CNVs? Using an evolutionary genetic approach, McLysaght and colleagues demonstrate that ohnologs are overrepresented in pathogenic CNVs in their recent PNAS study. Ohnologs are genes retained after ancestral whole-genome duplication events. McLysaght and colleagues suggest that ohnologs represent critical dosage-sensitive elements of the genome and are possibly responsible for some of the deleterious phenotypes observed for pathogenic CNVs. In the field of epilepsy genetics, we usually identify a huge amount of truncating mutations in an ...
Synaptic dysfunction in amygdala in intellectual disorder models. Prog Neuropsychopharmacol Biol Psychiatry 2017, 10.1016/j.pnpbp.2017.07.028.. **************************************************************************************************. Penn, A C, Zhang, C L, Georges, F, Royer, L, Breillat, C, Hosy, E, Petersen, J D, Humeau, Y and Choquet, D (2017) Hippocampal LTP and contextual learning require surface diffusion of AMPA receptors. Nature 2017, 10.1038/nature23658.. **************************************************************************************************. Arbogast T, Iacono G, Chevalier C, Afinowi N, Houbaert X, van Eede M, Laliberté C, Birling MC, Selloum M, Linda K, Meziane H, Sorg T, Nadif Kasri N, Koolen D, Stunnenberg H, Henkelman M, Kopanitsa M, Humeau Y, de Vries B, Herault Y (2017). Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition, synaptic transmission and neurogenesis. PLoS Genetics 2017, ...
Complete information for DUP22Q11.2 gene (Uncategorized), Chromosome 22q11.2 Microduplication Syndrome, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
In many organisms descended from polyploid ancestors (shown in the figure below), ohnologs are associated with unique evolutionary innovations. For example, ohnologs are known to be associated with signaling pathways and developmental genes in vertebrates and most likely facilitated increased genomic, morphological and developmental complexity of vertebrates. In addition, ohnologs have been shown to present an enhanced susceptibility to deleterious mutations and are frequently associated with cancer and other genetic diseases. Therefore, these evolutionary observations also hold predictive power to identify and prioritize disease gene candidates and driver mutations in the NGS studies to sequence cancer genomes.. ...
Microdeletions and microduplications in the genome are caused by chromosome misalignment between blocks of region‐specific low copy repeats and result in genomic disorders
Translocated chromosomal duplications occur spontaneously in many organisms; segmental duplications of large chromosomal regions are expected to result in phenotypic changes because of gene dosage effects. Therefore, experimentally generated segmental duplications in targeted chromosomal regions can be used to study phenotypic changes and determine the functions of unknown genes in these regions. Previously, we performed tandem duplication of a targeted chromosomal segment in Aspergillus oryzae. However, in tandem chromosomal duplication, duplication of chromosomal ends and multiple chromosomal duplication are difficult. In this study, we aimed to generate fungal strains with a translocated duplication or triplication of a targeted chromosomal region via break-induced replication. Double-strand breaks were introduced into chromosomes of parental strains by treating protoplast cells with I-SceI meganuclease. Subsequently, strains were generated by nonreciprocal translocation of a 1.4-Mb duplicated region
Interstitial deletions of 3q29 have been recently described as a microdeletion syndrome mediated by nonallelic homologous recombination between low-copy repeats resulting in an ~1.6 Mb common-sized deletion. Given the molecular mechanism causing the deletion, the reciprocal duplication is anticipated to occur with equal frequency, although only one family with this duplication has been reported. In this study we describe 14 individuals with microdeletions of 3q29, including one family with a mildly affected mother and two affected children, identified among 14,698 individuals with idiopathic mental retardation who were analyzed by array CGH. Eleven individuals had typical 1.6-Mb deletions. Three individuals had deletions that flank, span, or partially overlap the commonly deleted region. Although the clinical presentations of individuals with typical-sized deletions varied, several features were present in multiple individuals, including mental retardation and microcephaly. We also identified 19
Abnormalities in chromosomal copy number (or "aneuploidies") often lead to cancer (Davoli et al. 2013; Potapova et al. 2013; Sheltzer 2013; Durrbaum and Storchova 2015, 2016; Laubert et al. 2015; Mohr et al. 2015; Nicholson and Cimini 2015; Pinto et al. 2015; Santaguida and Amon 2015), developmental defects (Ottesen et al. 2010; Gannon et al. 2011; Siegel and Amon 2012; Akasaka et al. 2013; Bose et al. 2015), premature aging (Andriani et al. 2016; Sunshine et al. 2016), and other health issues in humans. In the budding yeast Saccharomyces cerevisiae, aneuploidies also tend to be deleterious (Torres et al. 2007; Yona et al. 2012; Potapova et al. 2013; Dodgson et al. 2016; Sunshine et al. 2016). However, in some cases, these aneuploidies are conditionally beneficial, as they can enable yeast to tolerate specific loss-of-function mutations or environmental stresses (Selmecki et al. 2009, 2015; Pavelka et al. 2010; Chen et al. 2012a,b; Yona et al. 2012; Tan et al. 2013; Kaya et al. 2015; Liu et al. ...
TY - JOUR. T1 - 40 Mb duplication in chromosome band 5p13.1p15.33 with 800 kb terminal deletion in a foetus with mild phenotypic features. AU - Izzo, A.. AU - Genesio, R.. AU - Ronga, V.. AU - Nocera, V.. AU - Marullo, L.. AU - Cicatiello, R.. AU - Sglavo, G.. AU - Paladini, D.. AU - Conti, A.. AU - Nitsch, L.. PY - 2012/2. Y1 - 2012/2. N2 - Large duplication of the short arm of chromosome 5 is a rare condition normally associated to severe phenotype anomalies including heart and brain malformations. We report a prenatal case of a large 5p duplication with sub-telomeric deletion in a foetus with very mild phenotypic abnormalities. Foetal ultrasonographic examination at 22 weeks of gestation showed short femur, clubfeet, pielectasy, and facial dysmorphisms. Chromosome investigations revealed an inverted duplication of the short arm of chromosome 5 from 5p13.1 to 5p15.33 and a 800 kb deletion at 5pter. The absence of severe anomalies such as cardiac and cerebral defects, observed so far in all ...
Although radiation-induced chromosome exchanges are not distributed among cells according to a Poisson distribution, chromatid interchanges are. In Vicia faba the lack of fit to a Poisson distribution has been attributed to the occurrence of only two sites per cell where the chromosomes are close enough to form exchanges if broken. When chromatid aberrations are induced, after chromosomal duplication, the number of sites more than doubles. ...
A paediatric microarray is specifically looking for CNVs that affect health. A microarray is an appropriate test for the investigation of genetic causes of intellectual disability, developmental and behavioural conditions such as autism spectrum disorders, congenital malformations and for some familial genetic conditions. A microarray detects the likely cause of developmental problems in about 15% of referrals.. A microarray replaces most tests looking at microdeletion and microduplication syndromes (eg Di-George syndrome), but does not replace all other genetic investigations. Tests with complex genetics, like fragile X syndrome, need to be requested and performed separately. For specific information on microarray testing, please contact the laboratory.. Parental microarray testing is often required and may be used to help determine the significance of some CNVs, where the clinical significance is yet to be fully determined.. ...
International Journal of Genomics is a peer-reviewed, Open Access journal that publishes research articles as well as review articles in all areas of genome-scale analysis. Topics covered by the journal include, but are not limited to: bioinformatics, clinical genomics, disease genomics, epigenomics, evolutionary genomics, functional genomics, genome engineering, and synthetic genomics.
Detection of FMR1 triplet expansion with fragment analysis in premature ovarian failure patient.. Genetic investigation in the disorders of sexual differentiation: Mutation analysis of the SRY, desert hedgehog (DHH), androgen receptor (AR), 5α-reductase (SRD5A2) and WT1 genes in children with genital abnormalities.. 2. DNA microarray is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability, autism spectrum disorders or multiple congenital anomalies. Microarray analysis can identify candidate regions and genes in patients with unexplained mental retardations and developmental delays and discover novel microdeletion and microduplication syndromes. In cases with structural chromosome aberrations the identification of precise breakpoints and involved genes using microarray will allow the better understanding of pathogenesis and study of genotype-phenotype correlation.. 3. Bone disorders: craniosynostosis, achondro- and ...
Gene duplication (or chromosomal duplication or gene amplification) is a major mechanism through which new genetic material is generated during molecular evolution. It can be defined as any duplication of a region of DNA that contains a gene. Gene duplications can arise as products of several types of errors in DNA replication and repair machinery as well as through fortuitous capture by selfish genetic elements. Common sources of gene duplications include ectopic recombination, retrotransposition event, aneuploidy, polyploidy, and replication slippage. Duplications arise from an event termed unequal crossing-over that occurs during meiosis between misaligned homologous chromosomes.The chance of this happening is a function of the degree of sharing of repetitive elements between two chromosomes. The products of this recombination are a duplication at the site of the exchange and a reciprocal deletion. Ectopic recombination is typically mediated by sequence similarity at the duplicate ...
Marianne is an Instructional Designer working in Downtown Detroit. Shes been an active volunteer in the community primarily focusing on efforts with Make A Wish Michigan. In April 2017 she had her first child, Olivia. Olivia was born with three continental heart defects: Atrial Septal Defect, Coarctation of the Aorta, and a Bicuspid Valve. In addition to her defects, she was also born with a Chromosomal Duplication and Hypothyroidism. She had her first heart surgery at four days old to repair two of the defects at Motts Childrens Hospital in Ann Arbor. After working so closely with children battling critical illnesses for years and then having a child of her own with a range of medical needs, she knew she wanted to provide more support specifically to The Childrens Heart Foundations community. She has a goal to write and illustrate a series of childrens books on children with Congenital Heart Defects. ...
XLAG is a novel genetic cause of GH excess. It usually presents at a very early age as a sporadic disease due to a de novo microduplication on the X chromosome involving the GPR101 gene in patients with gigantism (40-42). The majority of the cases are females with germline microduplication (14, 40, 42). Two familial cases have been described with transmission from affected mother to an affected son and show full penetrance (14). Somatic mosaic mutation cases have also been described in males where the mutation was identified in the pituitary tissue and/or at low level in germline (18, 41, 42). Although the originally identified Xq26.3 duplicated area involves four genes (14), only one of these, the GPR101 gene, has been found upregulated at the mRNA level in pituitary tissue. We have recently identified a patient with XLAG whose duplicated area includes only the GPR101 gene, but not the other three genes, indicating the pathogenic role of GPR101 (14, 42). Activation of GPR101, an orphan Gs ...
As part of our mission, Dup15q Alliance seeks to unite families, researchers, and professionals; and promote research, awareness, and understanding of chromosome 15q11.2-13.1 duplication syndrome and related disorders. Dup15q Alliance formally endorses and funds research and collaborates with researchers interested in research on chromosome 15q duplications by disseminating research information and promoting opportunities for Dup15q Alliance families to participate in research studies.. ...
Xp 22.31 Duplication - Hi. I am looking for any information, stories, or support for genetic issues/duplications. I just found out that I have...
Background Previous reports indicate an association between autism spectrum disorders (ASD) and disorders of mitochondrial oxidative phosphorylation. One study suggested that children with both diagnoses are clinically indistinguishable from children with idiopathic autism. There are, however, no detailed analyses of the clinical and laboratory findings in a large cohort of these children. Therefore, we undertook a comprehensive review of patients with ASD and a mitochondrial disorder. Methodology/Principal Findings We reviewed medical records of 25 patients with a primary diagnosis of ASD by DSM-IV-TR criteria, later determined to have enzyme- or mutation-defined mitochondrial electron transport chain (ETC) dysfunction. Twenty-four of 25 patients had one or more major clinical abnormalities uncommon in idiopathic autism. Twenty-one patients had histories of significant non-neurological medical problems. Nineteen patients exhibited constitutional symptoms, especially excessive fatigability. Fifteen
PURPOSE: Mutations in murine and human versions of an ancestrally related gene usually result in similar phenotypes. However, interspecies differences exist, and in the case of two forkhead transcription factor genes (FOXC1 and FOXC2), these differences include corneal or anterior segment phenotypes, respectively. This study was undertaken to determine whether such discrepancies provide an opportunity for identifying novel human-murine ocular phenotypes. METHODS: Four pedigrees with early-onset glaucoma phenotypes secondary to segmental chromosomal duplications or deletions encompassing FOXC1 and 18 individuals from 9 FOXC2 mutation pedigrees underwent detailed ocular phenotyping. Subsequently, mice with mutations in Foxc1 or a related forkhead gene, Foxe3, were assessed for features of the human phenotypes. RESULTS: A significant increase in central corneal thickness was present in affected individuals from the segmental duplication pedigrees compared with their unaffected relatives (mean
GABAergic. Lets start out with a provocative statement. There is a single gene that may explain more cases of Lennox-Gastaut Syndrome (LGS) and Infantile Spasms (IS) than you would expect, rivalling SCN1A for the most common gene found in this group of patients. Its a gene that you are probably aware of but that you may think to be a very rare finding. In a recent publication in Annals of Neurology, the Epi4K consortium published their recent analysis of copy number variations that were derived from exome data. Combining de novo mutations and copy number variations points to GABRB3 as a major player in LGS and IS, explaining probably more than 2% of patients. Lets find out about the twilight zone, strategies to obtain structural variants from exomes, and the re-emergence of the 15q duplication syndrome. Continue reading →. ...
Article 1 Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder Sureni V Mullegama et al. The European Journal of Human Genetics (2013), 1-7 This article describes a new chromosome duplication syndrome, 2q23.1 duplication. This duplication includes the MBD5 gene, the same gene involved in the 2q23.1 deletion syndrome.…
Breakpoint characterization by 44K oligonucleotide array-CGH. a: 7.1 Mb deletion at 8p [arr 8p23.3p23.1(191,530-7,303,237)x1] and b: 30 Mb duplication at 15q
Microduplication of the region 7q11.23 critical for Williams-Beuren syndrome - diagnostic problems presented on the base of the case of an eleven-month-old girl ...
... Lyrics: Somebody told me about it When I was still a little boy He said to me, crime does not pay He sai ...
There are at least 16 genes within the common overlapping region. A few of these genes are expressed in the central nervous system and/or likely to be dosage sensitive, or reported to be associated with disease by animal studies. These genes could be candidate genes for patients with deletion or duplication in this region.. The transcription factor gene (SP1) is most likely to be dosage sensitive (haploinsufficiency score: 0.81%) [DECIPHER]. The protein encoded by the SP1 gene is a zinc finger transcription factor that binds to GC-rich motifs of many promoters and is then involved in a variety of cellular processes such as cell growth, apoptosis, differentiation and immune responses, DNA damage response, and chromatin remodeling (provided by RefSeq, Nov 2014). The SP7 gene (haploinsufficiency score: 14.4%) encodes a bone specific transcription factor (osterix) which regulates osteogenesis and bone formation during embryonic development [8]. Niger et al. [9] reported that the activity of osterix ...
As part of our mission, Dup15q Alliance seeks to unite families, researchers, and professionals; and promote research, awareness, and understanding of chromosome 15q11.2-13.1 duplication syndrome and related disorders. Dup15q Alliance formally endorses and funds research and collaborates with researchers interested in research on chromosome 15q duplications by disseminating research information and promoting opportunities for Dup15q Alliance families to participate in research studies.. ...
3. There are genetic and epigenetic factors that can trigger autism. Shank mutations are responsible for idiopathic autism spectrum disorders (ASD) both in humans and in mice. This confirms an earlier study from 2006 in France where Shank 3 gene mutations were found in human autism cases. Recently research from Stanford University identified another genetic mutation, namely neuroligin-3 amino acid substitution and a neuroligin-3 deletion, which can be responsible for autism in mice. Epigenetic switches play an important role in the placenta, which according to research from the University of British Columbia, Vancouver/BC is likely the key for understanding autism. Another publication also stresses the importance of epigenetic switches in the development of autism. Stress during pregnancy can lead to changes in placental biochemical pathways, which causes prenatal epigenetic programming in the direction of autism. More research will be done regarding genetic causes of autism. However, it appears ...
Results Large duplications involving one complete domain or both domains are associated with either SRS or BWS, depending on the parental origin of the duplication. Genotype-phenotype correlation studies of partial duplications within the telomeric domain demonstrate the prominent role of IGF2, rather than H19, in the control of growth. Furthermore, it highlights the role of CDKN1C within the centromeric domain and suggests that the expected overexpression of KCNQ1OT1 from the paternal allele (in partial paternal duplications, excluding CDKN1C) does not affect the expression of CDKN1C. ...
Background: Dysfunctions in the PI3K/mTOR pathway have gained a lot of attention in autism research. This was initially based on the discovery of several monogenic autism spectrum disorders with mutations or defects in PI3K/mTOR signaling components. Recent genetic studies corroborate that defective PI3K/mTOR signaling might be a shared pathomechanism in autism disorders of so far unknown etiology, but functional molecular analyses in human cells are rare. The goals of this study were to perform a functional screen of cell lines from patients with idiopathic autism for defects in PI3K/mTOR signaling, to test if further functional analyses are suitable to detect underlying molecular mechanisms, and to evaluate this approach as a biomarker tool to identify therapeutic targets. Methods: We performed phospho-S6- and S6-specific ELISA experiments on 21 lymphoblastoid cell lines from the AGRE collection and on 37 lymphoblastoid cell lines from the Simons Simplex Collection and their healthy siblings. ...
A few years ago, researchers reported that the Fragile X Mental Retardation (FMRP) pathway helps to regulate expression or activity of 93 genes linked with idiopathic autism [1, 2]. FMRP, within a complex of CYFIP1 and EIF4E, negatively regulates a wide range of protein translation. Interestingly, the Eukaryotic Initiation Factors (EIF) are a family of…
Dr. Pallav Dube is a Pediatrician in Charlimli, Bhopal. Book Appointment, Consult Online, View Doctor Fees, Contact Number, User Reviews and Ratings for Dr. Pallav Dube | Lybrate
Bonjour à tous Je viens de migrer mon serveur limesurvey 2.05+(140502) vers 2.05+ Build 140821 et tout semble sêtre plutôt bien passé à un détail prêt....
Publisher: University of Delaware. Date Issued: 2011. Abstract: Pelizaeus-Merzbacher disease (PMD) is a rare, progressive, degenerative central nervous system disorder in which coordination, motor abilities, and intellectual function deteriorate. The disease is one of the leukodystrophies, a group of disorders that affect growth of the myelin sheath. It is caused by mutations of the proteolipid protein 1 gene (Plp1), which is located on the X chromosome and encodes the most abundant protein of myelin. About 50-75% of PMD cases are due to duplications of a region of the X chromosome that includes the entire Plp1 gene. The duplications are typically in a head-to-tail arrangement and they vary in size and gene content. Although rodent models have been developed, these models have Plp1 gene copies that range from two to fourteen, and none contain an actual genomic rearrangement that resemble those found in PMD patients. The mouse chromosome engineering resources (MICER) were used to generate the ...
Numerous disorders associated with birth defects or developmental problems are believed to be caused by copy number variants (the deletion or duplication of genomic material). Cytogenetic testing may be requested in order to identify genetic imbalances in infants or children with characteristics of developmental delay (DD), autism spectrum disorder (ASD) or intellectual disability (ID). Historically, fluorescence in situ hybridization (FISH) and G-banded karyotyping were the primary tests used to identify genetic imbalances in infants or children believed to have DD, ASD or ID. FISH utilizes short DNA probe sequences that are labeled with a fluorescent dye that glows (fluoresces) under UV light. These labeled DNA probes bind only to specific regions within the genome and can identify small chromosomal duplications or deletions. G-banded karyotyping uses Giemsa stain to identify chromosomal aberrations such as translocations and rearrangements. aCGH is a more recently developed cytogenetic ...
Study results are preliminary, but they offer proof of concept that the method can link certain behavior, or phenotype, to a specific genetic structure or genotype. The signatures of shared behavior may indicate shared gene pathways that lead to behaviors, which in turn could hint at the cause of autism.. "The power of the machine learning of the vector support system is that you can find hidden patterns, ie patterns that were not detected by statistical analysis without conventional supervision" says Hilgo Bruining, assistant professor of child and adolescent psychiatry at the University of Utrecht, who also led the study.. The researchers plan to sift through large sets of behavioral and genetic data of individuals with idiopathic autism. If the algorithm can identify new behavior signatures inside these sets of data, it may be able to divide into subgroups of autism and concentrate on the genome areas responsible with the disorder subtypes.. However, some experts call for caution with this ...
A 25-YEAR-OLD Pietermaritzburg woman celebrated Womens Day with her Best Media Personality award in hand. Lungi Dube was crowned at the Ingoma Awards in Pretoria on Saturday. Dube is not just a pretty face, she is a jack of all trades - she man...
Norbert Preining ,preining at logic.at, writes: , On Fri, 17 Jul 2015, Norbert Preining wrote: ,, , updmap(-sys) --listavailablemaps , , Fixed now, should be in todays update. updmap(-sys) --help returns: --8,---------------cut here---------------start-------------,8--- Commands: [...] --listmaps list all maps (details below) (details below) --listavailablemaps list available maps (details below) --8,---------------cut here---------------end---------------,8--- Is the duplication of `(details below) on purpose? (updmap.el, line 2244 ) Best, Arash ...
Generation of 3D Endodermal and Ectodermal Organoids from Skin Fibroblasts. Reprogramming of fibroblasts into induced pluripotent stem cells (iPSCs) enables in vitro differentiation into tissue-specific progenitors, such as intestinal stem cells, thyroid, or neuroectodermal progenitors. When grown under the right conditions in suspension, these progenitors self-organize into 3D tissues resembling the intestine, thyroid, optic cup, or cerebral cortex. , Image: Cell. ASD: Inhibitory Neurons Tip the Balance. Another research application of neural organoid cultures - and an example of how rapidly the new technology has spread since its 2013 beginnings at IMBA - focuses on autism spectrum disorder (ASD). ASD individuals display a broad spectrum of traits including impaired social development and communication, repetitive behaviors, unusual responses to sensory stimuli, atypical eating behavior, and sleep problems. Even though patients with idiopathic autism do not appear to share a single genetic ...
Balanced structural variants are mostly described in disease with gene disruption or subtle rearrangement at breakpoints. Here we report a patient with mild intellectual deficiency who carries a de novo balanced translocation t(3;5). Breakpoints were fully explored by microarray, Array Painting and Sanger sequencing. No gene disruption was found but the chromosome 5 breakpoint was localized 228-kb upstream of the MEF2C gene. The predicted Topologically Associated Domains analysis shows that it contains only the MEF2C gene and a long non-coding RNA LINC01226. RNA studies looking for MEF2C gene expression revealed an overexpression of MEF2C in the lymphoblastoid cell line of the patient. Pathogenicity of MEF2C overexpression is still unclear as only four patients with mild intellectual deficiency carrying 5q14.3 microduplications containing MEF2C are described in the literature. The microduplications in these individuals also contain other genes expressed in the brain. The patient presented the same
The pediatrician or specialist will study the causes, symptoms and follow proper diagnosis to check and control, if there are any developmental delay signs.
The HoxD cluster is critical for vertebrate limb development. Enhancers located in both the telomeric and centromeric gene deserts flanking the cluster regulate the transcription of HoxD genes. In rare patients, duplications, balanced translocations or inversions misregulating HOXD genes are responsible for mesomelic dysplasia of the upper and lower limbs. By aCGH, whole-genome mate-pair sequencing, long-range PCR and fiber fluorescent in situ hybridization, we studied patients from two families displaying mesomelic dysplasia limited to the upper limbs. We identified microduplications including the HOXD cluster and showed that microduplications were in an inverted orientation and inserted between the HOXD cluster and the telomeric enhancers. Our results highlight the existence of an autosomal dominant condition consisting of isolated ulnar dysplasia caused by microduplications inserted between the HOXD cluster and the telomeric enhancers. The duplications likely disconnect the HOXD9 to HOXD11 genes from
Rare copy number variants (CNVs) have a prominent role in the aetiology of schizophrenia and other neuropsychiatric disorders. Substantial risk for schizophrenia is conferred by large (,500-kilobase) CNVs at several loci, including microdeletions at 1q21.1 (ref. 2), 3q29 (ref. 3), 15q13.3 (ref. 2) and 22q11.2 (ref. 4) and microduplication at 16p11.2 (ref. 5). However, these CNVs collectively account for a small fraction (2-4%) of cases, and the relevant genes and neurobiological mechanisms are not well understood. Here we performed a large two-stage genome-wide scan of rare CNVs and report the significant association of copy number gains at chromosome 7q36.3 with schizophrenia. Microduplications with variable breakpoints occurred within a 362-kilobase region and were detected in 29 of 8,290 (0.35%) patients versus 2 of 7,431 (0.03%) controls in the combined sample. All duplications overlapped or were located within 89 kilobases upstream of the vasoactive intestinal peptide receptor gene VIPR2. ...
TY - JOUR. T1 - Molecular and clinical characterization of a recurrent cryptic unbalanced t(4q;18q) resulting in an 18q deletion and 4q duplication. AU - Horbinski, Craig. AU - Carter, Erika M.. AU - Heard, Patricia L.. AU - Sathanoori, Malini. AU - Hu, Jie. AU - Vockley, Jerry. AU - Gunn, Shelly. AU - Hale, Daniel. AU - Surti, Urvashi. AU - Cody, Jannine D.. PY - 2008/11/15. Y1 - 2008/11/15. N2 - Recurrent constitutional non-Robertsonian translocations are very rare. We present the third instance of cryptic, unbalanced translocation between 4q and 18q. This individual had an apparently normal karyotype; however, after subtelomere fluorescence in situ hybridization (FISH), he was found to have a cryptic unbalanced translocation between 4q and 18q [ish der(18)t(4;18)(q35;q23) (4qtel+, 18qtel-)]. Oligonucleotide array comparative genomic hybridization (aCGH) refined the breakpoints in this child and in the previously reported child and indicated that the breakpoints were within 20 kb of each ...
Bray S, Hirt M, Jo B, Hall SS, Lightbody AA, Walter E, Chen K, Patnaik S, Reiss AL. (2011). Aberrant frontal lobe maturation in adolescents with fragile X syndrome is related to delayed cognitive maturation. Psychoneuroendocrinology, Epub ahead of print. Abstract. Cohen JD, Nichols T, Brignone L, Hall SS, Reiss AL. (2011). Insular volume reduction in fragile X syndrome. Int J Dev Neurosci, 29(4):489-94. Abstract. Hall SS, Lightbody AA, McCarthy BE, Parker KJ, Reiss AL. (2011). Effects of intranasal oxytocin on social anxiety in males with fragile X syndrome. [Epub ahead of print]. Abstract. Hall SS, Lightbody AA, Hirt M, Rezvani A, Reiss AL. (2011). Autism in fragile X syndrome: a category mistake? J Am Acad Child Adolesc Psychiatry, 49(9):921-33. Abstract. Hoeft F, Walter E, Lightbody AA, Hazlett HC, Chang C, Piven J, Reiss AL. (2011). Neuroanatomical differences in toddler boys with fragile x syndrome and idiopathic autism. Archives of General Psychiatry, 68(3): 295-305. Abstract. Hoeft F, ...
While the rise of single-molecule sequencing systems has enabled an unprecedented rise in the ability to assemble complex regions of the genome, long segmental duplications in the genome still remain a challenging frontier in assembly. Segmental duplications are at the same time both gene rich and prone to large structural rearrangements, making the resolution of their sequences important in medical and evolutionary studies. Duplicated sequences that are collapsed in mammalian de novo assemblies are rarely identical; after a sequence is duplicated, it begins to acquire paralog specific variants. In this paper, we study the problem of resolving the variations in multicopy long-segmental duplications by developing and utilizing algorithms for polyploid phasing. We develop two algorithms: the first one is targeted at maximizing the likelihood of observing the reads given the underlying haplotypes using discrete ma- trix completion. The second algorithm is based on correlation clustering and ...
Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences ...
A few comments up, somebody said they HOPED there are those in London and Ilderton who disapprove of the sham. Well of course. Consider Ilderton. Do we really imagine everyone in Ilderton are just thrilled at the Moirs heavy-footed self-promotion, that the town even jokingly calls itself Moirville, that theyre as out there and glory-hogging as they are? Im sure the civic leaders are delighted to have four plaques at the four corners announcing that its the Home of Tessa and Scott, but I dont think theres any community that would completely embrace a familiys attempt to make themselves the Trumps of that town - or the Trumps of figure skating. Its one thing for the Moirs to be affiliated with the ISC, its another for them to completely run it, for it to be a Moir fiefdom, and for the family to be as full of itself as it is. Of course theres plenty of people eager for a piece of it who want in on the action, and I believe it stands to reason there are plenty who sit it out. Many people ...
Do you know the signs of a possible developmental delay in your child? WebMD tells you what to watch for and when its important to contact your pediatrician.
Chromosome Xq26.3 duplication syndrome. *Congenital generalized lipodystrophy type 1. *Congenital generalized lipodystrophy ...
Chromosome 17q12 duplication syndrome is a protein in humans that is encoded by the DUP17Q12 gene. "Entrez Gene: Chromosome ...
Chromosome duplication allows orderly meiosis and so viable seed can be produced.[67] ... For example, donkeys have 62 chromosomes, horses have 64 chromosomes, and mules or hinnies have 63 chromosomes. Mules, hinnies ... Sterility in a non-polyploid hybrid is often a result of chromosome number; if parents are of differing chromosome pair number ... In genetics, attention is focused on the numbers of chromosomes. In taxonomy, a key question is how closely related the parent ...
brachyantherum and followed by duplication of chromosome. Polyploidization may lead to speciation because the reproductive ... It was hypothesized that the novel genes arose due to the gene duplication during the early stage of the divergence of the ...
Thomas, P. (1997). "The phenotypic manifestations of chromosome 17p11.2 duplication". Brain. 120 (3): 465-478. doi:10.1093/ ... "Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome ... The Roussy-Lévy syndrome has been associated with two genetic mutations: a duplication of the PMP22 gene that carries the ... study in French-Canadian population with Charcot-Marie-Tooth disease type 1A associated with 17p11.2 duplication" (PDF). The ...
"Antifolate drug selection results in duplication and rearrangement of chromosome 7 in Plasmodium chabaudi". Molecular and ... In humans, the DHFR enzyme is encoded by the DHFR gene.[5][6] It is found in the q11→q22 region of chromosome 5.[7] Bacterial ... While the functional dihydrofolate reductase gene has been mapped to chromosome 5, multiple intronless processed pseudogenes or ... "Assignment of the human dihydrofolate reductase gene to the q11----q22 region of chromosome 5". Molecular and Cellular Biology ...
"An anthropoid-specific segmental duplication on human chromosome 1q22". Genomics. 88 (2): 143-51. doi:10.1016/j.ygeno.2006.02. ... The MSTO1 gene is 5134 base pairs (located in chromosome 1) and the MSTO1 protein is 570 aminoacids in length. It is located in ...
"An anthropoid-specific segmental duplication on human chromosome 1q22". Genomics. 88 (2): 143-51. doi:10.1016/j.ygeno.2006.02. ... 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. doi:10.1038/nature04727 ...
Chromosome Res 18: 115-125. *^ Taylor JH (1960) Asynchronous duplication of chromosomes in cultured cells of Chinese hamster. J ... Replication timing and chromosome structure[edit]. Figure 5. Nucleus of a female amniotic fluid cell. Top: Both X-chromosome ... Chromosome Res 18: 127-136. *^ Schwaiger M, Stadler MB, Bell O, Kohler H, Oakeley EJ, et al. (2009) Chromatin state marks cell- ... In 1960, J. H. Taylor [8] showed that the active and inactive X chromosomes replicate in a different pattern, with the active X ...
December 2004). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. doi:10.1038/ ... The human gene TMEM8A is found on chromosome 16 at the band 16p13.3. The span of this gene on chromosome 16 spans from base ... This gene is found on the minus strand of the chromosome. There are no known isoforms. TMEM8A is also known as Transmembrane ... Both of these paralogs are found on Chromosome 9. The ortholog space of TMEM8A is fairly narrow, with the majority of orthologs ...
Lewis, D.; Casselton, L. A. (1975). "Missense suppression in Coprinus lagopus associated with a chromosome duplication". ... Stajich, JE., and 49 others, "Insights into evolution of multicellular fungi from the assembled chromosomes of the mushroom ... Stajich, Jason E (29 June 2010). "Insights into evolution of multicellular fungi from the assembled chromosomes of the mushroom ...
... depletions and duplications of parts of a gene, larger portion of a chromosome, or even an entire arm of a chromosome; ... translocations, deletions, and duplications of entire chromosomes; and increases and decreases in the expression of intact ...
2005). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. doi:10.1038/nature03187 ... 2001). "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16". Hum. ...
This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause ... 2006). "Analysis of the DNA sequence and duplication history of human chromosome 15". Nature. 440 (7084): 671-5. doi:10.1038/ ... 2000). "Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132 ... maps to human chromosome 15q21-q22". J Med Genet. 34 (12): 1015-7. doi:10.1136/jmg.34.12.1015. PMC 1051155 . PMID 9429146. " ...
April 2008). "Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome". Am. J. Med. Genet. A. 146A (8 ... King-Denborough syndrome has been linked to a mutation on chromosome 19 located near the gene that encodes the ryanodine ... receptor whereas Noonan syndrome is associated with a mutation on chromosome 12. Some individuals with NS have been reported to ...
2005). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. doi:10.1038/nature03187 ...
1999). "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q". Genomics. 60 (3): ... 2005). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. doi:10.1038/nature03187 ... 1996). "Assignment of the human ATBF1 transcription factor gene to chromosome 16q22.3-q23.1". Genomics. 29 (2): 552-3. doi: ...
2004). "The Sequence and Analysis of Duplication-Rich Human Chromosome 16". Nature. 432: 988-994. doi:10.1038/nature03187. PMID ... C16orf96, or chromosome 16 open reading frame 96, is a protein in humans that is encoded by C16orf96 that is found on the 16th ... chromosome. In Homo sapiens, the protein is 1141 amino acids in length The molecular weight of the processed C16orf96 protein ...
His group use budding yeast to study chromosome duplication and segregation. By understanding the processes that occur during ... Moser, Sandra C.; Swedlow, Jason R. (2011). "How to be a mitotic chromosome". Chromosome Research. 19 (3): 307-19. doi:10.1007/ ... The Centre is studying many aspects of the cell cycle, including the way in which chromosomes replicate and separate during ... The driving force behind this process are strands known as microtubules, which pull the chromosomes apart. His work looks at ...
2005). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. doi:10.1038/nature03187 ... "cDNA cloning of a human RAB26-related gene encoding a Ras-like GTP-binding protein on chromosome 16p13.3 region". J Hum Genet. ...
2005). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. doi:10.1038/nature03187 ... "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q". Genomics. 60 (3): 295-308. ...
2005). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. doi:10.1038/nature03187 ... 2001). "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16". Hum. ... 2001). "The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human ...
2005). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. doi:10.1038/nature03187 ... 2001). "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16". Hum. ... "The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome". Genomics ...
1999). "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q". Genomics. 60 (3): ... This gene is one of three highly similar genes in a region of duplication located on the p arm of chromosome 16. These three ... 2005). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. doi:10.1038/nature03187 ... Maps to Chromosome 16p13.1". Genome Res. 7 (8): 830-4. doi:10.1101/gr.7.8.830. PMC 310666 . PMID 9267806. Matoba R, Okubo K, ...
2004). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. doi:10.1038/nature03187 ... The gene is part of a cluster of serine protease genes on chromosome 16. tryptase ENSG00000282937 GRCh38: Ensembl release 89: ... a new member of the chromosome 16p13.3 family of human serine proteases expressed in airway epithelial cells". J. Biol. Chem. ...
2005). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. doi:10.1038/nature03187 ... 2001). "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16". Hum. ... 1997). "The relationship between chromosome structure and function at a human telomeric region". Nat. Genet. 15 (3): 252-7. doi ...
大多數人類基因擁有許多的外顯子,且人類的內含子比位在其兩端的外顯子更長。這些基因參差不齊地分佈在染色體中,每一個染色體皆含有一些基因較多的區段與基因較少的區段。這些區段的差異,則與染色體帶(chromosome bands)及GC含量相關。基因密度所顯現 ... duplication),以及複雜多位置變
... of Three Novel Ca2+ Channel γ Subunit Genes Reveals Molecular Diversification by Tandem and Chromosome Duplication". Genome Res ... "A cluster of three novel Ca2+ channel gamma subunit genes on chromosome 19q13.4: evolution and expression profile of the gamma ...
... that ring formation of one chromosome 12 is followed by duplication of the remaining homolog. The latter scenario would always ... Retained heterodisomy for chromosome 12 in atypical lipomatous tumors: implications for ring chromosome formation.. Mertens, ... that ring formation of one chromosome 12 is followed by duplication of the remaining homolog. The latter scenario would always ... we studied polymorphic loci on chromosome 12 in 14 cases of ALT showing one or more supernumerary ring chromosomes and few or ...
The X chromosome duplication is 270 kb in size, which is within the size range of human duplications, and in addition to Plp1, ... of PMD cases are due to duplications of a region of the X chromosome that includes the entire Plp1 gene. The duplications are ... The mouse chromosome engineering resources (MICER) were used to generate the Plp1dup mouse model by introducing a duplication ... A duplication in the Plp1 locus alters the expression of Plp1 as well as four of the other five genes within the duplication. ...
Find chromosome duplication information, treatments for chromosome duplication and chromosome duplication symptoms. ... MedHelps chromosome duplication Center for Information, Symptoms, Resources, Treatments and Tools for chromosome duplication. ... Posts on chromosome duplication. duplication of7q21.13 {large 1.68 -1.73mb} and deletion of 6p25.1 {large 208.45 - 240.91kb} - ... my son has a duplication on his 3q29 chromosome does that mean he is mentally retarded as h... ...
Duplication of chromosomes definition at Dictionary.com, a free online dictionary with pronunciation, synonyms and translation ... The occurrence of a repeated section of genes in a chromosome.. .css-grsm00{display:none;position:absolute;bottom:0px;height: ...
5 patients with chromosome 3p duplication experience fatigue, depressed mood, pain, anxious mood, and insomnia. ... Find the most comprehensive real-world symptom and treatment data on chromosome 3p duplication at PatientsLikeMe. ... 0 chromosome 3p duplication patients report severe pain (0%). * 0 chromosome 3p duplication patients report moderate pain (0%) ... What is chromosome 3p duplication?. Chromosome 3p duplication is a rare chromosomal abnormality. Signs and symptoms of the ...
The ORC is a six subunit complex that binds DNA and provides a site on the chromosome where additional replication factors can ... Diffley, J.F (2008). "Regulation of Early Events in Chromosome Replication". Curr. Biol. 14 (18): R778-R786. doi:10.1016/j.cub. ... Replication is initiated at multiple origins of replication on multiple chromosomes simultaneously so that the duration of S ... Pflumm, M.F; Bochtan, M.R. (2001). "Orc mutants arrest in metaphase with abnormally condensed chromosomes". Development. 128 (9 ...
Chromosome 2q31.1 duplication syndrome is a protein that in humans is encoded by the DUP2Q31.1 gene. "Human PubMed Reference ... "Entrez Gene: Chromosome 2q31.1 duplication syndrome". Retrieved 2016-07-25. Sandholm N, McKnight AJ, Salem RM, Brennan EP, ... "Chromosome 2q31.1 associates with ESRD in women with type 1 diabetes". J. Am. Soc. Nephrol. 24 (10): 1537-43. doi:10.1681/ASN. ...
Gene Duplication, Gene Conversion and the Evolution of the Y Chromosome Message Subject (Your Name) has forwarded a page to you ... Gene Duplication, Gene Conversion and the Evolution of the Y Chromosome. Tim Connallon and Andrew G. Clark ... Gene Duplication, Gene Conversion and the Evolution of the Y Chromosome. Tim Connallon and Andrew G. Clark ... Gene Duplication, Gene Conversion and the Evolution of the Y Chromosome. Tim Connallon and Andrew G. Clark ...
Overview of the molecularly defined X-chromosome duplication kit. The hash marked line of the X chromosome at the top of A, B, ... The transgenic flies are currently available as the "Duplication Consortium X Chromosome" Duplications from the Bloomington ... an X chromosome fragment on the Y chromosome [Dp(1;Y)], an autosome [Dp(1;A)], or a free duplication [Dp(1;f)] (Lindsley and Z ... In all five cases, larger duplications encompassing the Duplication Consortium (DC) duplications do not exhibit an effect on ...
... and the correct diagnosis for Chromosome 11p partial duplication signs or Chromosome 11p partial duplication symptoms. ... Signs of Chromosome 11p partial duplication including medical signs and symptoms of Chromosome 11p partial duplication, ... Symptoms of Chromosome 11p partial duplication *Medical articles Symptoms of Chromosome 11p partial duplication. The list of ... Associated conditions for Chromosome 11p partial duplication *Risk factors for Chromosome 11p partial duplication * Related ...
Chromosome Loss Followed by Duplication Is the Major Mechanism of Spontaneous Mating-Type Locus Homozygosis in Candida albicans ... Chromosome Loss Followed by Duplication Is the Major Mechanism of Spontaneous Mating-Type Locus Homozygosis in Candida albicans ... Chromosome Loss Followed by Duplication Is the Major Mechanism of Spontaneous Mating-Type Locus Homozygosis in Candida albicans ... Chromosome Loss Followed by Duplication Is the Major Mechanism of Spontaneous Mating-Type Locus Homozygosis in Candida albicans ...
Analysis of mouse conceptuses with uniparental duplication/deficiency for distal chromosome 12: comparison with chromosome 12 ... Citation: Han L, Szabó PE, Mann JR (2010) Postnatal Survival of Mice with Maternal Duplication of Distal Chromosome 7 Induced ... McLaughlin KJ, Szabó P, Haegel H, Mann JR (1996) Mouse embryos with paternal duplication of an imprinted chromosome 7 region ... Maternal duplication of twelve Chr regions results in developmental anomalies. Only three of these are associated with peri- or ...
Real Time PCR and FISH demonstrated tandem duplication/multiplication of the SRY and DAZ genes. At sequence level, the SRY was ... Of the two TS patients having intact Y chromosome in ,85% cells, one was exceptionally tall. Both the patients were positive ... In the present study, we have analyzed the Y chromosome in 15 clinically diagnosed Turner Syndrome (TS) patients and detected ... Presence of the human Y-chromosome in females with Turner Syndrome (TS) enhances the risk of development of gonadoblastoma ...
Chromosome 5q duplication syndrome information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories ... Chromosome 5q duplication syndrome *What is Chromosome 5q duplication syndrome? *Causes of Chromosome 5q duplication syndrome * ... Symptoms of Chromosome 5q duplication syndrome *Signs of Chromosome 5q duplication syndrome *Treatments for Chromosome 5q ... Chromosome 5q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which ...
... ... In patients with no duplication/triplication of the 1p36.22p36.21 region and no mutations inTWIST2, there are mutation(s) in ... Chromosomal microarray analyses revealed unique copy number variants of 1p36 in two individuals with duplications at 1p36.22 ... The fourth patient had normal chromosomes by microarray analysis. All four patients had normalTWIST2exonic sequences. We ...
Interchromosomal Duplications on the Bactrocera oleae Y Chromosome Imply a Distinct Evolutionary Origin of the Sex Chromosomes ... Interchromosomal duplications on the Bactrocera oleae Y chromosome imply a distinct evolutionary origin of the sex chromosomes ... Figure 3 The B. oleae Y chromosome contains large interchromosomal duplications harbouring importin-4 gene fragments. A) PCR ... Chromosome Duplication / genetics*. Drosophila / genetics*. Electrophoresis, Agar Gel. Evolution, Molecular*. Female. Gene ...
18 22q11.2 duplications (reciprocal to DiGeorge syndrome deletions),19 20 Xq28 duplications (MECP2 duplications, reciprocal to ... Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome ... Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome ... Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13. Eur J Med Genet 2005;48:355 ...
is a duplication of chromosome 31 (in L. mexicana, a fusion event joined chromosomes 8 and 29 and as a result the homologue of ... mexicana chromosome 30 was duplicated in the T. brucei clade to form parts of chromosomes 4 and 8, providing opportunities for ... mexicana chromosome 30 is the homologue of chromosome 31 in other Leishmania spp., which has been shown to be supernumerary ( ... Furthermore we reveal that an ancient chromosome duplication shared by all Leishmania species may have contributed to the ...
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of ... FISH analysis in some of these cases demonstrated that the duplication was inverted. Thus these ring chromosomes derived ... FISH analysis in some of these cases demonstrated that the duplication was inverted. Thus these ring chromosomes derived ... DISCUSSION: Inv dup del rearrangements have been reported for several chromosomes, but hardly ever in ring chromosomes. Our ...
... Common Name(s). Chromosome 9 Inversion or Duplication, Chromosome 9 inversion ... "Chromosome 9 Inversion or Duplication" (open studies are recruiting volunteers) and 0 "Chromosome 9 Inversion or Duplication" ... Humans have 23 pairs of chromosomes, which means that each human cell contains 46 chromosomes. Each chromosome has a p and q ... The terms "Chromosome 9 Inversion or Duplication" returned 0 free, full-text research articles on human participants. ...
Duplication, Chromosome. On-line free medical diagnosis assistant. Ranked list of possible diseases from either several ...
Five or 6 chromosomes of the complement have segments typically late in duplication. Two of these are the X and Y chromosomes. ... Asynchronous Duplication of Chromosomes in Cultured Cells of Chinese Hamster J. Herbert Taylor J. Herbert Taylor ... Chromosome duplication (DNA synthesis) was studied in cultured cells of Chinese hamsters by means of autoradiography following ... The chromosomes labeled during the contact period retained their precise pattern of labeling through another duplication cycle ...
... Common Name(s). Chromosome 2p Duplication, Chromosome 2 Duplication Disease, Two Duplication ... Syndrome, 2 Duplication Syndrome, Chromosome Two Duplication Syndrome, Chromosome 2 Duplication, Chromosome Two Duplication ... "Chromosome 2p Duplication" (open studies are recruiting volunteers) and 0 "Chromosome 2p Duplication" studies with "all" status ... 2p duplications fall into a category of chromosome disorders in which a segment of chromosome 2 is duplicated or copied. This ...
MalaCards integrated aliases for Chromosome 5p13 Duplication Syndrome:. Name: Chromosome 5p13 Duplication Syndrome 57 12 29 13 ... Chromosome 5p13 Duplication Syndrome. Genetic Locus. 508.59. Structural variation 57 GeneCards inferred via :. Gene name (show ... Pathways related to Chromosome 5p13 Duplication Syndrome according to GeneCards Suite gene sharing:. #. Super pathways. Score. ... Human phenotypes related to Chromosome 5p13 Duplication Syndrome:. 32 (show all 37) #. Description. HPO Frequency. HPO Source ...
On the Increase of Sites for Chromosome Exchange Formation after Chromosome Duplication ... On the Increase of Sites for Chromosome Exchange Formation after Chromosome Duplication ... On the Increase of Sites for Chromosome Exchange Formation after Chromosome Duplication ... On the Increase of Sites for Chromosome Exchange Formation after Chromosome Duplication ...
  • Fluorescence in situ hybridization ( FISH) and molecular genetic analyses have disclosed that the RGMCs always contain amplified sequences from the long arm of chromosome 12. (lu.se)
  • article{3ed7dee0-8f39-4b2a-ba64-1e9bbc438160, abstract = {Atypical lipomatous tumor (ALT) is an intermediate malignant mesenchymal tumor that is characterized by supernumerary ring chromosomes and/or giant rod-shaped marker chromosomes (RGMC). (lu.se)
  • Atypical lipomatous tumor (ALT) is an intermediate malignant mesenchymal tumor that is characterized by supernumerary ring chromosomes and/or giant rod-shaped marker chromosomes (RGMC). (lu.se)
  • BACKGROUND AND METHODS: Ring chromosomes are often associated with abnormal phenotypes because of loss of genomic material at one or both ends. (uzh.ch)
  • To obtain further insight, we investigated misexpressions that could cause the pronounced growth deficiency and death of fetuses with maternal duplication of distal chromosome (Chr) 7 (MatDup.dist7). (plos.org)
  • Identification of imprinted loci by methylation-sensitive representational difference analysis: application to mouse distal chromosome 2. (labome.org)
  • First, the union of unbalanced complementary gametes in intercrosses of mice carrying reciprocal or Robertsonian translocations yield, at low frequency, embryos with maternal duplication and paternal deficiency for particular Chr regions as defined by the translocation breakpoint - . (plos.org)
  • In rare patients, duplications, balanced translocations or inversions misregulating HOXD genes are responsible for mesomelic dysplasia of the upper and lower limbs. (nature.com)
  • The most frequent events reshaping chromosomes were translocations of chromosomal arms. (pnas.org)
  • The two largest chromosomes, M and L, contain the rDNA locus and showed pronounced variability in size without any translocations detected. (pnas.org)
  • A detailed phenotypic delineation of interstitial 16p13.3 duplications is hampered by the scarcity of such patients. (bmj.com)
  • Results The present report describes the genotypic and phenotypic delineation of nine submicroscopic interstitial 16p13.3 duplications. (bmj.com)
  • Chromosome Duplication may cause phenotypic variations that may at first appear to be caused by a simple point mutation. (botanystudies.com)
  • The phenotypic manifestations of chromosome 17p11.2 duplication. (medscape.com)
  • Chromosome loss followed by duplication is the major mechanism of spontaneous mating-type locus homozygosis in Candida albicans. (nih.gov)
  • Candida albicans, which is diploid, possesses a single mating-type (MTL) locus on chromosome 5, which is normally heterozygous (a/alpha). (nih.gov)
  • Eighteen polymorphic (heterozygous) markers were identified on chromosome 5, 6 to the left and 12 to the right of the MTL locus. (nih.gov)
  • A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. (medscape.com)
  • Gene duplications at the chemokine locus on mouse chromosome 4: multiple strain-specific haplotypes and the deletion of secondary lymphoid-organ chemokine and EBI-1 ligand chemokine genes in the plt mutation. (duke.edu)
  • Polymorphism at this locus is due to duplications of at least four genes, three of them encoding chemokines. (duke.edu)
  • Furlong R, Zhou C, Ferguson Smith M, Affara N. Characterization of a kinesin-related gene ATSV, within the tuberous sclerosis locus (TSC1) candidate region on chromosome 9Q34. (labome.org)
  • The translocation results in a p210 BCR-ABL fusion protein when the protooncogene ABL moves from chromosome 9 to the major breakpoint cluster region (M-bcr) within the BCR gene on chromosome 22 or in a shorter p190 BCR-ABL fusion protein when it moves to the minor breakpoint cluster region (m-bcr) within the same BCR locus. (bloodjournal.org)
  • Three possible mechanisms may be used in this process, mitotic recombination, gene conversion, or loss of one chromosome 5 homolog, followed by duplication of the retained homolog. (nih.gov)
  • The results demonstrate that while mitotic recombination was the mechanism for homozygosis in one offspring, loss of one chromosome 5 homolog followed by duplication of the retained homolog was the mechanism in the remaining 15 offspring, indicating that the latter mechanism is the most common in the spontaneous generation of MTL homozygotes in natural strains of C. albicans in culture. (nih.gov)
  • Fluorescence in situ hybridization of mitotic chromosomes confirms that the LGT in the Hawaii line is heterochromatic and represents ~20% of the sequence on chromosome 4 ( dot chromosome, Muller element F). (biomedcentral.com)
  • The affected regions are evident as large stretches of somatically acquired homozygosity, usually continuing from a certain point on the chromosome to the telomere and have the hallmarks of mitotic recombination, because there is no net change in copy number in the affected region. (aacrjournals.org)
  • Azzalin CM, Reichenbach P, Khoriauli L, Giulotto E, Lingner J. Telomeric repeat containing RNA and RNA surveillance factors at mammalian chromosome ends. (springer.com)
  • Spontaneous duplication of the mammalian genome occurs in approximately 1% of fertilizations. (creation.com)
  • The occurrence of a repeated section of genes in a chromosome. (dictionary.com)
  • In Vicia faba the lack of fit to a Poisson distribution has been attributed to the occurrence of only two sites per cell where the chromosomes are close enough to form exchanges if broken. (sciencemag.org)
  • Alteration in copy number and expression of the genes on chromosome 4 may play a functional role in lung cancer development and may aid in the identification of mouse and human lung cancer susceptibility genes. (cdc.gov)
  • The range and severity of symptoms and physical findings may vary from case to case, depending upon the length and location of the duplicated portion of chromosome 15q. (rarediseases.org)
  • Symptoms and physical characteristics associated with the disorder may vary in range and severity, depending upon the exact size and location of the duplicated portion of chromosome 15q. (rarediseases.org)
  • The medial portion of chromosome 4 was deleted in 66.0% +/- 12.0 of the cell lines. (cdc.gov)