Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
The 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
Chromosomes, Human, Pair 7
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 17
Chromosomes, Human, Pair 6
Chromosomes, Human, Pair 9
Chromosomes, Human, Pair 21
Chromosomes, Human, 6-12 and X
Chromosomes, Human, Pair 2
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 22
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 4
Chromosomes, Human, Pair 10
Chromosomes, Human, Pair 19
Chromosomes, Human, Pair 8
Chromosomes, Human, Y
Chromosomes, Artificial, Bacterial
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 5
Chromosomes, Human, X
A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.
Chromosomes, Human, 1-3
Chromosomes, Human, Pair 15
Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 18
Chromosomes, Human, Pair 20
In Situ Hybridization, Fluorescence
Chromosomes, Human, 16-18
Chromosomes, Artificial, Yeast
Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.
Chromosomes, Human, 13-15
Chromosomes, Human, 21-22 and Y
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, Human, 4-5
X Chromosome Inactivation
Chromosomes, Human, 19-20
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
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).
Amino Acid Sequence
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)
Sequence Analysis, DNA
Chromosomes, Artificial, Human
A technique with which an unknown region of a chromosome can be explored. It is generally used to isolate a locus of interest for which no probe is available but that is known to be linked to a gene which has been identified and cloned. A fragment containing a known gene is selected and used as a probe to identify other overlapping fragments which contain the same gene. The nucleotide sequences of these fragments can then be characterized. This process continues for the length of the chromosome.
Polymerase Chain Reaction
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Chromosomal Proteins, Non-Histone
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).
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.
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.
Either of the two longitudinally adjacent threads formed when a eukaryotic chromosome replicates prior to mitosis. The chromatids are held together at the centromere. Sister chromatids are derived from the same chromosome. (Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
Sequence Homology, Nucleic Acid
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.
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.
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.
Loss of Heterozygosity
Polymorphism, Restriction Fragment Length
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.
Polymorphism, Single Nucleotide
Chromosome Fragile Sites
Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.)
Genetic Predisposition to Disease
Sequence Tagged Sites
Short tracts of DNA sequence that are used as landmarks in GENOME mapping. In most instances, 200 to 500 base pairs of sequence define a Sequence Tagged Site (STS) that is operationally unique in the human genome (i.e., can be specifically detected by the polymerase chain reaction in the presence of all other genomic sequences). The overwhelming advantage of STSs over mapping landmarks defined in other ways is that the means of testing for the presence of a particular STS can be completely described as information in a database.
Sequence Homology, Amino Acid
Sex Chromosome Disorders
The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.
Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
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.
An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE).
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.
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 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.
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)
Sister Chromatid Exchange
An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
Nucleic Acid Conformation
Quantitative Trait, Heritable
A mutation in the RIEG1 gene associated with Peters' anomaly. (1/867)Mutations within the RIEG1 homeobox gene on chromosome 4q25 have previously been reported in association with Rieger syndrome. We report a 3' splice site mutation within the 3rd intron of the RIEG1 gene which is associated with unilateral Peters' anomaly. The mutation is a single base substition of A to T at the invariant -2 site of the 3' splice site. Peters' anomaly, which is characterised by ocular anterior segment dysgenesis and central corneal opacification, is distinct from Rieger anomaly. This is the first description of a RIEG1 mutation associated with Peters' anomaly. (+info)
Tumor suppression in human skin carcinoma cells by chromosome 15 transfer or thrombospondin-1 overexpression through halted tumor vascularization. (2/867)The development of skin carcinomas presently is believed to be correlated with mutations in the p53 tumor suppressor and ras gene as well as with the loss of chromosome 9. We now demonstrate that, in addition, loss of chromosome 15 may be a relevant genetic defect. Reintroduction of an extra copy of chromosome 15, but not chromosome 4, into the human skin carcinoma SCL-I cells, lacking one copy of each chromosome, resulted in tumor suppression after s.c. injection in mice. Transfection with thrombospondin-1 (TSP-1), mapped to 15q15, induced the same tumor suppression without affecting cell proliferation in vitro or in vivo. Halted tumors remained as small cysts encapsulated by surrounding stroma and blood vessels. These cysts were characterized by increased TSP-1 matrix deposition at the tumor/stroma border and a complete lack of tumor vascularization. Coinjection of TSP-1 antisense oligonucleotides drastically reduced TSP-1 expression and almost completely abolished matrix deposition at the tumor/stroma border. As a consequence, the tumor phenotype reverted to a well vascularized, progressively expanding, solid carcinoma indistinguishable from that induced by the untransfected SCL-I cells. Thus, these data strongly suggest TSP-1 as a potential tumor suppressor on chromosome 15. The data further propose an unexpected mechanism of TSP-1-mediated tumor suppression. Instead of interfering with angiogenesis in general, in this system TSP-1 acts as a matrix barrier at the tumor/stroma border, which, by halting tumor vascularization, prevents tumor cell invasion and, thus, tumor expansion. (+info)
Cloning and characterization of a secreted frizzled-related protein that is expressed by the retinal pigment epithelium. (3/867)The Wnt/frizzled cell signaling pathway has been implicated in the determination of polarity in a number of systems, including the Drosophila retina. The vertebrate retina develops from an undifferentiated neuroepithelium into an organized and laminated structure that demonstrates a high degree of polarity at both the tissue and cellular levels. In the process of searching for molecules that are preferentially expressed by the vertebrate retinal pigment epithelium (RPE), we identified secreted frizzled-related protein 5 (SFRP5), a member of the SFRP family that appears to act by modulating Wnt signal transduction. SFRP5 is highly expressed by RPE cells, and is also expressed in the pancreas. Within the retina, the related molecule SFRP2 is expressed specifically by cells of the inner nuclear layer. Thus, photoreceptors are likely to be bathed by two opposing gradients of SFRP molecules. Consistent with SFRP5 's postulated role in modulating Wnt signaling in the retina, it inhibits the ability of Xwnt-8 mRNA to induce axis duplication in Xenopus embryos. The human SFRP5 gene consists of three coding exons and it maps to chromosome 10q24.1; human SFRP2 maps to 4q31.3. Based on the biology and complementary expression patterns of SFRP2 and SFRP5, we suggest that they may be involved in determining the polarity of photoreceptor, and perhaps other, cells in the retina. (+info)
A genome search identifies major quantitative trait loci on human chromosomes 3 and 4 that influence cholesterol concentrations in small LDL particles. (4/867)Small, dense LDL particles are associated with increased risk of cardiovascular disease. To identify the genes that influence LDL size variation, we performed a genome-wide screen for cholesterol concentrations in 4 LDL size fractions. Samples from 470 members of randomly ascertained families were typed for 331 microsatellite markers spaced at approximately 15 cM intervals. Plasma LDLs were resolved by using nondenaturing gradient gel electrophoresis into 4 fraction sizes (LDL-1, 26.4 to 29.0 nm; LDL-2, 25.5 to 26.4 nm; LDL-3, 24.2 to 25.5 nm; and LDL-4, 21.0 to 24.2 nm) and cholesterol concentrations were estimated by staining with Sudan Black B. Linkage analyses used variance component methods that exploited all of the genotypic and phenotypic information in the large extended pedigrees. In multipoint linkage analyses with quantitative trait loci for the 4 fraction sizes, only LDL-3, a fraction containing small LDL particles, gave peak multipoint log10 odds in favor of linkage (LOD) scores that exceeded 3.0, a nominal criterion for evidence of significant linkage. The highest LOD scores for LDL-3 were found on chromosomes 3 (LOD=4.1), 4 (LOD=4.1), and 6 (LOD=2.9). In oligogenic analyses, the 2-locus LOD score (for chromosomes 3 and 4) increased significantly (P=0.0012) to 6.1, but including the third locus on chromosome 6 did not significantly improve the LOD score (P=0.064). Thus, we have localized 2 major quantitative trait loci that influence variation in cholesterol concentrations of small LDL particles. The 2 quantitative trait loci on chromosomes 3 and 4 are located in regions that contain the genes for apoD and the large subunit of the microsomal triglyceride transfer protein, respectively. (+info)
The metamorphosis of a molecule: from soluble enzyme to the leukocyte receptor CD38. (5/867)Human CD38 is a 45-kDa type II membrane glycoprotein with an intricate pattern of expression in leukocytes, although evidence is accumulating of its quite widespread expression in cells of nonvascular origin. CD38 is a member of a nascent eukaryotic gene family encoding cytosolic and membrane-bound enzymes whose substrate is NAD, a coenzyme ubiquitously distributed in nature. Functionally, CD38 is an eclectic molecule with the ability not only to catalyze but also to signal, to mobilize calcium, and to adhere to itself, to hyaluronan, and to other ligands. Interaction with CD38 on various leukocyte subpopulations has profound though diverse consequences on their life-span, but these effects seem to be independent of the enzymatic activity of the molecule. CD38 challenges our expectations of a surface molecule and we must sift through its many guises to unmask its true nature. (+info)
Linkage disequilibrium at the ADH2 and ADH3 loci and risk of alcoholism. (6/867)Two of the three class I alcohol dehydrogenase (ADH) genes (ADH2 and ADH3) encode known functional variants that act on alcohol with different efficiencies. Variants at both these genes have been implicated in alcoholism in some populations because allele frequencies differ between alcoholics and controls. Specifically, controls have higher frequencies of the variants with higher Vmax (ADH2*2 and ADH3*1). In samples both of alcoholics and of controls from three Taiwanese populations (Chinese, Ami, and Atayal) we found significant pairwise disequilibrium for all comparisons of the two functional polymorphisms and a third, presumably neutral, intronic polymorphism in ADH2. The class I ADH genes all lie within 80 kb on chromosome 4; thus, variants are not inherited independently, and haplotypes must be analyzed when evaluating the risk of alcoholism. In the Taiwanese Chinese we found that, only among those chromosomes containing the ADH3*1 variant (high Vmax), the proportions of chromosomes with ADH2*1 (low Vmax) and those with ADH2*2 (high Vmax) are significantly different between alcoholics and controls (P<10-5). The proportions of chromosomes with ADH3*1 and those with ADH3*2 are not significantly different between alcoholics and controls, on a constant ADH2 background (with ADH2*1, P=.83; with ADH2*2, P=.53). Thus, the observed differences in the frequency of the functional polymorphism at ADH3, between alcoholics and controls, can be accounted for by the disequilibrium with ADH2 in this population. (+info)
DNA pooling identifies QTLs on chromosome 4 for general cognitive ability in children. (7/867)General cognitive ability (g), which is related to many aspects of brain functioning, is one of the most heritable traits in neuroscience. Similarly to other heritable quantitatively distributed traits, genetic influence on g is likely to be due to the combined action of many genes of small effect [quantitative trait loci (QTLs)], perhaps several on each chromosome. We used DNA pooling for the first time to search a chromosome systematically with a dense map of DNA markers for allelic associations with g. We screened 147 markers on chromosome 4 such that 85% of the chromosome were estimated to be within 1 cM of a marker. Comparing pooled DNA from 51 children of high g and from 51 controls of average g, 11 significant QTL associations emerged. The association with three of these 11 markers ( D4S2943, MSX1 and D4S1607 ) replicated using DNA pooling in independent samples of 50 children of extremely high g and 50 controls. Furthermore, all three associations were confirmed when each individual was genotyped separately ( D4S2943, P = 0. 00045; MSX1, P = 0.011; D4S1607, P = 0.019). Identifying specific genes responsible for such QTL associations will open new windows in cognitive neuroscience through which to observe pathways between genes and learning and memory. (+info)
A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. (8/867)Stargardt disease (STGD) is the most common hereditary macular dystrophy and is characterized by decreased central vision, atrophy of the macula and underlying retinal-pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. STGD is most commonly inherited as an autosomal recessive trait, but many families have been described in which features of the disease are transmitted in an autosomal dominant manner. A recessive locus has been identified on chromosome 1p (STGD1), and dominant loci have been mapped to both chromosome 13q (STGD2) and chromosome 6q (STGD3). In this study, we describe a kindred with an autosomal dominant Stargardt-like phenotype. A genomewide search demonstrated linkage to a locus on chromosome 4p, with a maximum LOD score of 5.12 at a recombination fraction of.00, for marker D4S403. Analysis of extended haplotypes localized the disease gene to an approximately 12-cM interval between loci D4S1582 and D4S2397. Therefore, this kindred establishes a new dominant Stargardt-like locus, STGD4. (+info)
Duplication of the Distal Long Arm of Chromosome 15: Report of Three New Patients and Review of the Literature - Fingerprint ...
Fingerprint Dive into the research topics of Duplication of the Distal Long Arm of Chromosome 15: Report of Three New Patients and Review of the Literature. Together they form a unique fingerprint. ...
MDL-36490] Standard theme border-radius on .generalbox - Moodle Tracker
Test Instructions Navigate to Site Administration , Development , Purge all caches and Purge all caches View the div#notice element on the Purge all caches page, itself a div.generalbox, and note that bottom left and bottom right corners now have the same border-radius as top right and top left corners. Alternatively, navigate to Site Administration , Notifications; there are usually a few div.generalbox elements there upon which you can verify the change. Alternatively, view or create a Web page resource and then view the resource. The content is presented inside a div.generalbox. All corners should have the same border-radius ...
Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD...
Background: Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder associated with the partial deletion of integral numbers of 3.3 kb D4Z4 DNA repeats within the subtelomere of chromosome 4q. A number of candidate FSHD genes, adenine nucleotide translocator 1 gene (ANT1), FSHD-related gene 1 (FRG1), FRG2 and DUX4c, upstream of the D4Z4 array (FSHD locus), and double homeobox chromosome 4 (DUX4) within the repeat itself, are upregulated in some patients, thus suggesting an underlying perturbation of the chromatin structure. Furthermore, a mouse model overexpressing FRG1 has been generated, displaying skeletal muscle defects. Results: In the context of myogenic differentiation, we compared the chromatin structure and tridimensional interaction of the D4Z4 array and FRG1 gene promoter, and FRG1 expression, in control and FSHD cells. The FRG1 gene was prematurely expressed during FSHD myoblast differentiation, thus suggesting that the number of D4Z4 repeats in ...
Mutations in Genes That Modify DNA Packaging Result in Facioscapulohumeral Muscular Dystrophy (FSHD) | www.bioquicknews.com
A recent finding by medical geneticists sheds new light on how facioscapulohumeral muscular dystrophy develops and how it might be treated. More commonly known as FSHD, the devastating disease affects both men and women. FSHD is usually an inherited genetic disorder, yet sometimes appears spontaneously via new mutations in individuals with no family history of the condition. People with the condition experience progressive muscle weakness and about 1 in 5 require wheelchair assistance by age 40, said Dr. Daniel G. Miller, University of Washington (UW) associate professor of pediatrics in the Division of Genetic Medicine. Dr. Miller and his worldwide collaborators study the molecular events leading to symptoms of FSHD in the hopes of designing therapies to prevent the emergence of symptoms or reduce their severity. In the November 11, 2012 online issue of Nature Genetics, Dr. Miller and Dr. Silvere M. van der Maarel of Leiden University in The Netherlands, along with an international team, ...
DMOZ - Health: Conditions and Diseases: Neurological Disorders: Chromosomal: Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn syndrome was first documented in 1961: a child with midline fusion defects. Subsequent cytogenetic studies revealed a chromosomal deletion of the short arm of chromosome 4. Clinical features include mental retardation, seizures, distinct facial appearance, and midline closure defects. The former Pitt-Rogers-Danks syndromes, caused by overlapping 4p deletions, now are considered as a part of Wolf-Hirschhorn syndrome.
p53-independent DUX4 pathology in cell and animal models of facioscapulohumeral muscular dystrophy | Disease Models & Mechanisms
Facioscapulohumeral muscular dystrophy (FSHD) affects over 25,000 people in the USA alone, making it one of the most prevalent genetic diseases. The genetic mutation underlying FSHD is usually a reduction in the copy number of a macrosatellite repeat on chromosome 4 referred to as D4Z4 (van Deutekom et al., 1993; Wijmenga et al., 1992). This repeat is GC-rich, highly methylated and normally subjected to repeat-induced silencing, which is disrupted in an allele-specific manner by contractions to 10 or fewer copies (van Overveld et al., 2003) or is disrupted on all D4Z4 repeats owing to mutation in the chromatin protein SMCHD1 (de Greef et al., 2009; Hartweck et al., 2013; Lemmers et al., 2012). When silencing at D4Z4 breaks down, an RNA transcript encoding the DUX4 protein (Gabriëls et al., 1999) is expressed. The presence of a poly(A) signal downstream of the D4Z4 repeats on chromosome 4 (chr4) (Dixit et al., 2007) leads to DUX4 expression and explains why disease is associated only with ...
Facioscapulohumeral muscular dystrophy region gene 1 Is a dynamic RNA-associated and actin-bundling protein<...
TY - JOUR. T1 - Facioscapulohumeral muscular dystrophy region gene 1 Is a dynamic RNA-associated and actin-bundling protein. AU - Sun, Chia Yun Jessica. AU - Van Koningsbruggen, Silvana. AU - Long, Steven W.. AU - Straasheijm, Kirsten. AU - Klooster, Rinse. AU - Jones, Takako I.. AU - Bellini, Michel. AU - Levesque, Lyne. AU - Brieher, William M.. AU - Van Der Maarel, Silvère M.. AU - Jones, Peter L.. PY - 2011/8/12. Y1 - 2011/8/12. N2 - FSHD region gene 1 (FRG1) is a dynamic nuclear and cytoplasmic protein that, in skeletal muscle, shows additional localization to the sarcomere. Maintaining appropriate levels of FRG1 protein is critical for muscular and vascular development in vertebrates; however, its precise molecular function is unknown. This study investigates the molecular functions of human FRG1, along with mouse FRG1 and Xenopus frg1, using molecular, biochemical, and cellular-biological approaches, to provide further insight into its roles in vertebrate development. The nuclear ...
Facioscapulohumeral Muscular Dystrophy: Genetics
Facioscapulohumeral muscular dystrophy (FSHD) isan enigmatic inherited disorder, while the disease locus for this condition was mapped some 17 years ago and the mutations associated with the disease are known, the exact identity of the FSHD gene remains elusive
Inv dup del(4)(:p13 → p16.3::p16.3 → qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome - Zurich Open...
We report on a 4-year-old girl who presented with microcephaly, multiple minor anomalies of face and limbs, congenital heart defect, hypotonia, neuropsychomotor delay, deafness and seizures. A GTG-banded karyotype identified an additional fragment of unknown origin on the terminal region of 4p. Parental karyotypes were normal. FISH analysis using a whole chromosome paint probe for chromosome 4 and subtelomere probes showed a signal on the entire add (4) chromosome and loss of the 4p subtelomere region, respectively. Additional analysis using microsatellite markers for chromosome 4 and whole-genome array comparative genomic hybridization (array-CGH) identified a duplication of the region 4p13 4p16.3. Her karyotype was thus interpreted as an inverted duplication with terminal deletion of 4p: 46,XX,der(4)(:p13 p16.3::p16.3 qter). The clinical features of our patient differed from those typically observed in Wolf-Hirschhorn syndrome and were more compatible with duplication 4(p14 p16.3), with ...
Wolf-Hirschhorn Syndrome Clinical Presentation: History, Physical, Causes
Cooper and Hirschhorn first documented Wolf-Hirschhorn syndrome in 1961. They described a child with midline fusion defects, and subsequent cytogenetic studies revealed a chromosomal deletion of the short arm of chromosome 4.
Wolf-Hirschhorn Syndrome: Causes, Symptoms, Diagnosis, Treatment
Wolf-Hirschhorn syndrome is a rare genetic condition caused when part of chromosome 4 is deleted during a babys development. Find out if it can be prevented and treated.
WOLF-HIRSCHHORN SYNDROME | MENDELIAN.CO
WOLF-HIRSCHHORN SYNDROME description, symptoms and related genes. Get the complete information in our medical search engine for phenotype-genotype rel
Miller | ISCRM
Epigenetic Gene expression and Chromatin dynamics in Facioscapulohumeral Muscular Dystrophy (FSHD). Facioscapulohumeral muscular dystrophy (FSHD) is a debilitating genetic condition manifest by weakness of facial and upper extremity musculature that presents in the 2nd decade of life. The causative genetic event is a contraction of a subtelomeric array of repeated 3.3 kb sequence units residing on one of two common alleles of chromosome 4. How this array contraction translates into cellular differences that result in weakness of select muscle groups is a fascinating question that is not presently understood. Each D4Z4 repeat unit contains a large open reading frame that encodes a putative double homeodomain containing protein named DUX4 making aberrant expression, or expression of aberrant DUX4 isoforms an attractive mechanism for FSHD pathology. Our long term objectives are to understand how muscle strength is compromised as a result of molecular events initiated by these contractions. With ...
CINRG Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset Facioscapulohumeral Muscular Dystrophy
The purpose of this study is to establish a standardized functional testing protocol and measure longitudinal changes in muscle strength and function among patients with infantile onset FSHD, to describe the longitudinal changes in clinical phenotypes of infantile FSHD, to evaluate the long-term impact of physical impairment, secondary health conditions, activity limitations and disability caused by FSHD on health-related quality of life and disability, and to evaluate genetic modifiers and biomarkers of clinical phenotypes and disease progression in infantile FSHD ...
Study of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) - Full Text View - ClinicalTrials.gov
Part 1 (dose escalation, open-label) Part 1 will consist of up to 6 cohorts (A to F) of patients and will evaluate multiple ascending dose levels of ACE-083 in either the tibialis anterior (TA) or biceps brachii (BB) muscle. Patients in each cohort will be enrolled in a 4-week screening period before beginning treatment. A Safety Review Team (SRT) will meet to review data for each cohort when at least 4 patients within a cohort have completed their Day 43 visit prior to dose escalation.. Part 2 (randomized, double-blind, placebo-controlled) Prior to the initiation of Part 2, a review of safety and efficacy data from Part 1 will be conducted to determine whether cohorts for one or both muscles will be pursued in Part 2, as well as the recommended dose level for each muscle. A total of up to 40 new patients (20 patients per muscle) may be enrolled and randomized (3:2) to receive either ACE-083 (n=12) or placebo (n=8) unilaterally or bilaterally (if both sides are affected per inclusion criteria) ...
Deregulation of the Protocadherin Gene FAT1 Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral...
Author Summary Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary human myopathy affecting groups of skeletal muscles in the face and shoulders. Despite recent advances on the molecular cascade initiated by its main genetic cause, with identification of DUX4 as the main pathogenic agent, how this leads to the specific clinical picture is still poorly understood. Here, we investigated the role of the FAT1 protocadherin gene, located near the FSHD locus, which was repressed by DUX4 in human muscle cells. Disruption of the mouse Fat1 gene causes muscular and non-muscular phenotypes highly reminiscent of FSHD symptoms. We show that Fat1 is required in migrating muscle precursors, and that the altered muscle shapes caused by Fat1 mutations are predictive of early onset defects in muscle integrity in adult mutants, with a topography matching the map of muscles affected in FSHD. In humans, we observed FAT1 lowering in muscle but not brain of foetal cases with canonical FSHD1, and identified
The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein
Facioscapulohumeral muscular dystrophy (FSHD) patients carry contractions of the D4Z4-tandem repeat array on chromosome 4q35. Decrease in D4Z4 copy number is thought to alter a chromatin structure and activate expression of neighboring genes. D4Z4 contains a putative double-homeobox gene called DUX4 …
Duplication of the Distal Long Arm of Chromosome 15: Report of Three New Patients and Review of the Literature<...
TY - JOUR. T1 - Duplication of the Distal Long Arm of Chromosome 15. T2 - Report of Three New Patients and Review of the Literature. AU - Roggenbuck, Jennifer A.. AU - Mendelsohn, Nancy J.. AU - Tenenholz, Beverly. AU - Ladda, Roger L.. AU - Fink, James M.. PY - 2004/5. Y1 - 2004/5. N2 - Patients with trisomies or duplications of distal 15q have rarely been reported in the literature. Previous authors [Zollino et al., 1999: Am J Med Genet 87:391-394] have described a distal 15q trisomy syndrome, including the unusual features of prenatal overgrowth, tall stature, macrocephaly, and craniosynostosis. We report three new patients with a duplication of 15q24-q26.3; features common to the two surviving patients include ptosis, small size, and developmental delay. None of these patients had craniosynostosis or overgrowth. We propose that the previously described distal 15q trisomy syndrome [Zollino et al., 1999: Am J Med Genet 87:391-394] may result from specific disruption of a gene linked to 15q25, ...
Friends of FSH Research :: Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD
Facioscapulohumeral muscular dystrophy (FSHD), caused by partial deletion of the D4Z4 macrosatellite repeat on chromosome 4q, has a complex genetic and epigenetic etiology. To develop FSHD, D4Z4 contraction needs to occur on a specific genetic background. Only contractions associated with the 4qA161 haplotype cause FSHD.
RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of...
Deletion of a subset of the D4Z4 macrosatellite repeats in the subtelomeric region of chromosome 4q causes facioscapulohumeral muscular dystrophy (FSHD) when occurring on a specific haplotype of 4qter (4qA161). Several genes have been examined as candidates for causing FSHD, including the DUX4 homeobox gene in the D4Z4 repeat, but none have been definitively shown to cause the disease, nor has the full extent of transcripts from the D4Z4 region been carefully characterized. Using strand-specific RT-PCR, we have identified several sense and antisense transcripts originating from the 4q D4Z4 units in wild-type and FSHD muscle cells. Consistent with prior reports, we find that the DUX4 transcript from the last (most telomeric) D4Z4 unit is polyadenylated and has two introns in its 3-prime untranslated region. In addition, we show that this transcript generates (i) small si/miRNA-sized fragments, (ii) uncapped, polyadenylated 3-prime fragments that encode the conserved C-terminal portion of DUX4 and ...
Search Articles | University of Toronto Libraries
Derepression of in skeletal muscle has emerged as a likely cause of pathology in facioscapulohumeral muscular dystrophy (FSHD). Here we report on the use of ...
anti-NSD3 antibody | GeneTex
NSD3 antibody (Wolf-Hirschhorn syndrome candidate 1-like 1) for ICC/IF, IHC-P, WB. Anti-NSD3 pAb (GTX55733) is tested in Human, Mouse, Rat samples. 100% Ab-Assurance.
Learn more about important health issues for FSHD patients, click on the boxes below to learn about specific FSHD health conditions & symptions
Wolf-Hirschhorn Probe | Creative Bioarray
If you use this products in your scientific publication, it should be cited in the publication as: Creative Bioarray cat no. If your paper has been published, please click here to submit the Pub Med ID of your paper to get a coupon. ...
Wolfram syndrome | Fight for Sight
Wolfram syndrome (DIDMOAD) is a rare inherited disorder that occurs due to damage to the optic nerve resulting in a worse vision over time.
Wolfram Syndrome | Cause, Symptoms & Treatment
Wolfram syndrome is a rare genetic condition which affects several systems at the same time thus producing a classic set of symptoms.
Worldwide Sociaty of Wolfram Syndrome Families
This site is intended to aid those who are affected by Wolfram Syndrome (DIDMOAD). This is not a scientific or medical information site, but an information site prepared by those who are similarly affected.
Wolfram Videos: Russian Wolfram Technology Conference 2013: Presenter Stephen Wolfram (part 1 of 3)
Stephen Wolfram demonstrates powerful features in Wolfram Mathematica 9 and Wolfram|Alpha and discusses CDF (Computable Document Format), mobile and cloud implementations.
Items where Author is Langenbuch, M. - ePIC
Melzner, F. , Mark, F. C. , Bock, C. , Langenbuch, M. , Boutilier, R. G. , Claireaux, G. , Gutowska, M. , Wolfram, K. and Pörtner, H. O. (2006 ...
Genetic and physical mapping on chromosome 4 narrows the localization of the gene for facioscapulohumeral muscular dystrophy ...
TY - JOUR. T1 - Genetic and physical mapping on chromosome 4 narrows the localization of the gene for facioscapulohumeral muscular dystrophy (FSHD). AU - Mills, K. A.. AU - Buetow, K. H.. AU - Xu, Y.. AU - Ritty, T. M.. AU - Mathews, K. D.. AU - Bodrug, S. E.. AU - Wijmenga, C.. AU - Balazs, I.. AU - Murray, J. C.. PY - 1992/1/1. Y1 - 1992/1/1. N2 - We have used a combination of classical RFLPs and PCR-based polymorphisms including CA repeats and single-strand conformation polymorphisms to generate a fine-structure genetic map of the distal long arm of chromosome 4q. This map is now genetically linked to the pre-existing anchor map of 4pter-4q31 and generates, for the first time, a complete linkage map of this chromosome. The map consists of 32 anchor loci placed with odds of greater than 1,000:1. The high-resolution map in the cytogenetic region surrounding 4q35 provides the order 4cen-D4S171-F11-D4S187-D4S163-D4S139-4qter. When we used somatic cell hybrids from a t(X;4)(p21;q35) translocation, ...
Protocols and Procedures - Information for Researchers - The Richard Fields Center for FSH Dystrophy (FSHD) & Neuromuscular...
1: Lemmers RJ, Wohlgemuth M, van der Gaag KJ, van der Vliet PJ, van Teijlingen CM, de Knijff P, Padberg GW, Frants RR, van der Maarel SM. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet 2007; 81(5):884-94.. 2: Ehrlich M, Jackson K, Tsumagari K, Camaño P, Lemmers RJ. Hybridization analysis of D4Z4 repeat arrays linked to FSHD.Chromosoma 2007; 116(2):107-16.. 3: Lemmers RJ, van der Wielen MJ, Bakker E, Padberg GW, Frants RR, van der MaarelSM. Somatic mosaicism in FSHD often goes undetected.Ann Neurol 2004 Jun; 55(6):845-50.. 4: Lemmers RJ, Osborn M, Haaf T, Rogers M, Frants RR, Padberg GW, Cooper DN, van der Maarel SM, Upadhyaya M. D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection. Neurology 2003 Jul 22; 61(2):178-83.. 5: Lemmers RJ, de Kievit P, Sandkuijl L, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM. Facioscapulohumeral muscular dystrophy is uniquely associated ...
Genetics of Facioscapulohumeral Dystrophy
The relationship of phenotype to genotype in a clinically and genetically well defined population of 157 affected patients and 62 kindreds with facioscapulohumeral muscular dystrophy (FSHD) was examined at the University of Rochester School of Medicine, NY, and Ohio State University, Columbus, OH. Using isometric myometry scores to quantify disease severity, a significant correlation between disease severity and the size of the 4q35-associated deletion was evident, and the offspring were more severely affected than their parents. This generation effect and presence of anticipation in FSHD suggests a possible underlying dynamic mutation and an unstable repeat element within the region of the 4q35 deletion. . COMMENT. These findings have important significance in the genetic counselling of patients with FSHD. No differences in severity of disease were noted between paternally and maternally inherited FSHD, but a reduction in reproductive fitness in male compared to female patients was an ...
Differential 3 polyadenylation of the huntington disease gene results in two mRNA species with variable tissue expression<...
TY - JOUR. T1 - Differential 3 polyadenylation of the huntington disease gene results in two mRNA species with variable tissue expression. AU - Lin, Blaoyang. AU - Rommens, Johanna M.. AU - Graham, Rona K.. AU - Kalchman, Michael. AU - Macdonald, Helen. AU - Nasir, Jamal. AU - Delaney, Allen. AU - Goldberg, Y. Paul. AU - Hayden, Michael R.. PY - 1993/10/1. Y1 - 1993/10/1. N2 - Recently a novel gene containing a CAG trinucleotide repeat that is expanded on HD chromosomes has been identified(1). This gene was shown to detect a single transcript of 10-11 kb by RNA hybridization. We have however, previously identified three cDNAs which are part of the same gene that have been shown to detect two distinct transcripts of 10 kb and one that is significantly larger(2,3). These different mRNA species could be due to use of alternate transcription start sites, alternate splicing or selection of different polyadenylation sites. We have identified cDNA clones spanning the HD gene including two (HD12 and ...
Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome. | Journal of Medical Genetics
The parental origin of the de novo deleted chromosome 4 was studied in five cases of Wolf-Hirschhorn syndrome using polymorphic probes mapping in the 4p16.3 region. In all the patients the deleted chromosome was found to be of paternal origin and these results, together with similar ones obtained by another group, make the preferential paternal origin of the de novo chromosome 4 deletion highly significant.. ...
Histone lysine methyltransferase Wolf-Hirschhorn syndrome candidate 1 is involved in human carcinogenesis through regulation of...
A number of histone methyltransferases have been identified and biochemically characterized, but the pathologic roles of their dysfunction in human diseases like cancer are not well understood. Here, we demonstrate that Wolf-Hirschhorn syndrome candidate 1 (WHSC1) plays important roles in human carcinogenesis. Transcriptional levels of this gene are significantly elevated in various types of cancer including bladder and lung cancers. Immunohistochemical analysis using a number of clinical tissues confirmed significant up-regulation of WHSC1 expression in bladder and lung cancer cells at the protein level. Treatment of cancer cell lines with small interfering RNA targeting WHSC1 significantly knocked down its expression and resulted in the suppression of proliferation. Cell cycle analysis by flow cytometry indicated that knockdown of WHSC1 decreased the cell population of cancer cells at the S phase while increasing that at the G(2)/M phase. WHSC1 interacts with some proteins related to the WNT pathway
Wolf-Hirschhorn syndrome | Tabers Medical Dictionary
Wolf-Hirschhorn syndrome answers are found in the Tabers Medical Dictionary powered by Unbound Medicine. Available for iPhone, iPad, Android, and Web.
Therapeutic intervention in Facioscapulohumeral muscular dystrophy (FSHD) - Partnering Opportunities - For industry and...
FSHD is the third most common muscular dystrophy in man with an estimated incidence of 54 per million. Patients suffer from progressive and irreversible weakness and wasting of the facial, shoulder and upper arm muscles. Approximately 20% of gene carriers become wheelchair dependent. There is no cure for FSHD.. Scientists at LUMC, in collaboration with other academic institutions, have discovered two novel target mechanisms whereby the two forms of FSHD can arise. The mechanisms represent targets for therapeutic intervention.. In addition, cell lines and mouse models of FSHD have been developed and can be used to further research the disease and/or to screen and validate potential therapeutics.. The collaborating institutions represent world-leading expertise in the field of FSHD and can also provide ongoing expertise.. Partner companies are now sought for research collaborations in this field, and licensing of key technologies available at the institutions.. ...
IDEALS @ Illinois: Altered FRG1 Levels During Xenopus Laevis Development Leads to Muscular and Vascular Phenotypes Supporting a...
The genetic lesion diagnostic for facioscapulohumeral muscular dystrophy (FSHD) results in an epigenetic misregulation of gene expression, which in turn is what ultimately leads to the disease pathology. FRG1 (FSHD region gene 1) is a leading candidate gene whose misexpression may lead to FSHD. As FSHD pathology is most prominent in the musculature, most research and therapy efforts have focused on muscle cells. However, between 50-75% of FSHD patients also exhibit retinal vasculopathy and FSHD muscle has increased levels of vascular-endothelial related transcripts, suggesting an underappreciated vascular component to the disease. Using Xenopus laevis as a model, we have shown a previously unsuspected role for FRG1 in the development of both muscular and vascular structures. Furthermore, overexpression of frg1 displays disrupted muscle and dilated and tortuous vessels, phenocopying the symptoms of FSHD patients. Thus, our work strongly supports a role for FRG1 in FSHD disease pathology ...
2015 - 2016 - Research Studies - National Registry for Myotonic Dystrophy (DM) and Facioscapulohumeral Dystrophy (FSHD) -...
The goal of this study is to confirm the genetic status of Registry members with suspected FSHD. Genetic testing (DNA testing) by a blood draw can determine whether a patient has FSHD1, FSHD2, or neither. Clinical trials for FSHD often require patients to have had a genetically confirmed FSHD to participate. This study will increase the number of Registry members able to participate in future clinical trials ...
facioscapulohumeral dystrophy - General Practice Notebook
The information provided herein should not be used for diagnosis or treatment of any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions. Copyright 2016 Oxbridge Solutions Ltd®. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions Ltd® receives funding from advertising but maintains editorial independence. GPnotebook stores small data files on your computer called cookies so that we can recognise you and provide you with the best service. If you do not want to receive cookies please do not use GPnotebook ...
FSHD Research Archives | Page 44 of 44 | FSHD Society
Watertown, MA-Daniel Perez, co-founder, President and CEO of the FSH Society and a 48-year-old patient with facioscapulohumeral muscular dystrophy (FSHD), the most common form of muscular dystrophy, hailed new findings,… Read More ». ...
The Chris Carrino Foundation for FSHD | FSHD NEWS: Resolaris Improved Muscle Strength of Nearly Two-thirds of FSHD Patients,...
Article originally appeared on musculardystrophynews.com, October 10, 2017. Resolaris (ATYR1940) improved the muscle strength of nearly two-thirds of adolescents and young adults with early-onse
Study showed that the variability in clinical severity of facioscapulohumeral muscular dystrophy in FSHD1 and FSHD2 individuals is dependent on individual differences in susceptibility to D4Z4 hypomethylation ...
Quest - Article - Journeys of a Lifetime | Muscular Dystrophy Association
Carden Wyckoff, a 24-year-old professional with facioscapulohumeral muscular dystrophy (FSHD), went on her first piggyback adventure in 2015 when her brother Spencer carried her on his back through the Reebok Spartan Sprint, a tough three-mile obstacle course. After their second Spartan race in 2016 - and after Spencer appeared on national TV on
Dominant lethal pathologies in male mice engineered to contain an X-linked DUX4 transgene
Facioscapulohumeral muscular dystrophy (FSHD) is an enigmatic disease associated with epigenetic alterations in the subtelomeric heterochromatin of the D4Z4 macrosatellite repeat. Each repeat unit encodes DUX4, a gene that is normally silent in most tissues. Besides muscular loss, most patients suff …
Jon JP Warner
The Problem Facioscapulohumeral muscular dystrophy (FSH) is an autosomal dominant condition with frequent sporadic cases that is the third most common dystrophy. First described in 1884, it has a prevalence estimated at 1:20,000. Although it has a wide-ranging clinical spectrum, there is a high penetrance, so greater than 95% of patients will have clinical symptoms…. ...
The 4q subtelomere harboring the FSHD locus is specifically anchored with peripheral heterochromatin unlike most human...
In FSHD patient muscle, truncation of D4Z4 repeats does not significantly alter 4q35 localization to the heterochromatic rim. (A) Cytogenetic preparation of FSHD lymphoblastoid cells demonstrating different intensities of D4Z4 signals (green) at each 4q35 allele (red), permitting the mutant and wild-type alleles to be distinguished. (B) Both 4q35 alleles (green) in a mutant FSHD myoblast remain at the nuclear periphery depleted of hnRNA (red). (C) Localization of wild-type (arrow) and mutant (arrowhead) alleles in a FSHD myoblast using the same probes as in A. DAPI (blue) delineates the nucleus. (D) Quantitation of the localization of mutant (mut) versus wild-type (wt) allele in three FSHD myoblast cell lines (GM 17731, GM17899, and GM17869A) and in a normal myoblast line (50MB-1) before and after differentiation. 100 cells analyzed per sample. Localization of 4q35 (red) in a normal (E) and a FSHD myotube (F) with more intense D4Z4 signal (green) demarcating wild type versus weaker mutant 4q35 ...
chromosomes Archives - Royal Columbian Hospital
It was during Vicki Foleys 20-week ultrasound that they discovered fetal measurements were about a month behind schedule. Thus began regular monitoring and eventually a planned delivery at 37 weeks. While Royal Columbian Hospitals Variety Neonatal Intensive Care Unit looked after baby Hope for her first few weeks, it took genetic testing to offer an explanation for the newborns small size. She was diagnosed with a rare chromosomal condition known as Wolf-Hirschhorn syndrome.. Read more. ...
New Parents - wolfhirschhorn.org
If you are a newly diagnosed parent of a child with Wolf-Hirschhorn Syndrome, this is the place to start. This site is about people just like you.
Duties under WHS laws | Safe Work Australia
Some business operations are restricted under state or territory government public health directions. If you want to know what restrictions on business operations apply to your workplace, go to your state or territory government website. You can also go to our Public health directions and COVIDSafe plans page for links to enforceable government directions.. Businesses must only operate to the extent permissible in each state and territory. The information provided below outlines measures which cover all aspects of services offered by the industry - depending on what is permissible in your jurisdiction, some sections may not be currently relevant to your business. You should check any relevant advice from your state or territory regarding working from home in response to COVID-19. Safe Work Australia does not regulate or enforce WHS laws or COVID-19 restrictions on business operations. If you want to know how WHS laws apply to you or need help with what to do at your workplace, contact the WHS ...
Yale researchers uncover potential treatment for lethal Wolfram Syndrome
Yale pharmacology professor Barbara Ehrlich and her team have uncovered a mechanism driving a rare, lethal disease called Wolfram Syndrome and also a potential treatment. Their findings appear in the July 6 edition of Proceedings of the National Academy of Sciences.
WHS 2011 Missing DE - what am I missing?
Lets be honest...How many people actually using WHSv1 are actually a typical consumer? I doubt a single person reading these threads would be considered a typical consumer. Did I like DE, yes. Did I like the proprietary nature of DE, no. I do find WHS2011 much more responsive, and the installation was one of the most simple installs of an OS I can recall!. This may have been touted as being for the average consumer, but unlikely those people ever bought a copy.. So, since we are not typical consumers, why not turn on the DFS role, make a DFSROOT, and what I did was mount a 2TB drive, and shared it as MY MOVIES 1, added it to the DFS, added a 1.5 TB drive, shared it as MY MOVIES 2, etc, etc. No drive letters need be assigned, I shared into an empty NTFS folder, no letters assigned.. While I will miss the neat pie chart of disk stogage allocation, I think this can work. Now, if they turned WHS2011 into an OS that can be a tuner farm, and serve tuners to a google tv replacement, that would be ...
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Chimpanzee genome project
Humans have 23 pairs of chromosomes and other great apes have 24 pairs of chromosomes. In the human evolutionary lineage, two ... Human and chimpanzee chromosomes are very similar. The primary difference is that humans have one fewer pair of chromosomes ... Human evolutionary genetics Human chromosome 2 Human Genome Project Suntsova, M.V.; Buzdin, A.A. (2020-09-10). "Differences ... producing human chromosome 2. There are nine other major chromosomal differences between chimpanzees and humans: chromosome ...
In humans, the gene for C12orf40 is located on chromosome 12. There are 13 exons in the highest quality isoform, forming an ... mRNA of 2797 base pairs. Three other isoforms have been isolated. Homologs exist as distant as the green sea turtle and ... The human C12orf40 protein is 652 amino acids in length. Its molecular weight is predicted to be 74.52 kDa, and its isoelectric ... Kenta Nakai, Human Genome Center, Institute for Medical Science, University of Tokyo, Japan. Edgar, R. (1 January 2002). " ...
GXP_921944 spans 1910 base pairs on chromosome 4. There are 15 coding transcripts supporting this promoter, but none are ... Relative to other human proteins, C4orf51 has more serine resides and fewer valine residues. In humans, the C4orf51 protein ... Chromosome 4 open reading frame 51 (C4orf51) is a protein which in humans is encoded by the C4orf51 gene. The C4orf51 gene is ... "C4orf51 chromosome 4 open reading frame 51 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2019-05-06. " ...
This 1069 base pair promoter sequence spans 41936535-41937603 on human chromosome 4. The promoter sequence overlaps with the 5 ... In humans, this gene's DNA location is the short arm of chromosome 4, loci position: 4p13. The genomic range is 41937502- ... Transcripts a, b, and c have a 744 base pair long coding range and a particularly long 3' UTR that is 6000 base pairs long. In ... There is an experimentally determined acetylation point is at alanine, amino acid residue 2 in humans. Human TMEM33 has ...
Locus The human gene WWC2 is found on chromosome 4 at band 4q35.1. The gene is found on the plus strand of the chromosome and ... is 8,822 base pairs long. The gene contains 23 exons. The WWC2 locus is quite complex and appears to produce several proteins ... Paralogs There are two paralogs of WWC2 found in humans, WWC1 and WWC3. WWC1 is located on chromosome 5 and is a probable ... WW and C2 domain containing 2 (WWC2) is a protein that in humans is encoded by the WWC2 gene (4q35.1). Though function of WWC2 ...
Sex hormone-binding globulin
In humans common polymorphisms include the following: Rs6259, also called Asp327Asn location 7633209 on Chromosome 17, results ... Rs727428 position 7634474 is in several percent of humans. (TAAAA)(n) is five base pairs that repeats a variable number of ... Hryb DJ, Nakhla AM, Kahn SM, St George J, Levy NC, Romas NA, Rosner W (July 2002). "Sex hormone-binding globulin in the human ... In the womb the human fetus has a low level of SHBG allowing increased activity of sex hormones. After birth, the SHBG level ...
The zc3h11b gene is a total of 5,134 base pairs long, and the protein is 805 amino acids in length. The zc3h11b gene has 2 ... ZC3H11B also known as zinc finger CCCH-type containing protein 11B is a protein in humans that is encoded by the ZC3H11B gene. ... The zc3h11b gene is located on chromosome 1, on the long arm, in band 4 section 1. This protein is also known as ZC3HDC11B. ... "UniProtKB - A0A1B0GTU1 (ZC11B_HUMAN) =". UniProt. Hall TM (June 2005). "Multiple modes of RNA recognition by zinc finger ...
... whereas all the other pairs of chromosomes replicate in the same temporal pattern. It was also noticed by Mary Lyon  that ... A diagrammatic representation of replication timing in a 70-Mb segment of human chromosome 2. The red horizontal line ... Replication timing and chromosome structure. Figure 5. Nucleus of a female amniotic fluid cell. Top: Both X-chromosome ... Chromosome Res 18: 115-125. *^ Taylor JH (1960) Asynchronous duplication of chromosomes in cultured cells of Chinese hamster. J ...
MNS antigen system
The MN blood group in humans is under the control of a pair of co-dominant alleles, LM and LN. Most people in the Inuit ... The MNS antigen system is a human blood group system based upon two genes (glycophorin A and glycophorin B) on chromosome 4. ... Comparison of Human MM, NN, and MN Blood Group Antigens. The Journal of Biological Chemistry, 242, 1736-1722. Roback JD et al. ... Daniels G. Human Blood Groups. 2nd Ed. Oxford: Blackwell Science, 2002. ISBT Committee on Terminology for Red Cell Surface ...
Nuclear DNA in a human consists of 22 pairs of autosomes and two sex chromosomes. The 22 pairs of autosomes are derived half ... Evolution & Human Behavior 24: 99-112. Full text. *Knight, C. 2008. Early human kinship was matrilineal. In N. J. Allen, H. ... Early human kinship was matrilineal. In N. J. Allen, H. Callan, R. Dunbar and W. James (eds.), Early Human Kinship. Oxford: ... "Hierarchical patterns of global human Y-chromosome diversity". Mol Biol Evol. 18 (7): 1189-203. doi:10.1093/oxfordjournals. ...
C. sinensis has 28 pairs of chromosomes (2n=56) in a cell. The chromosome pairs are groups in two: 8 large group and 20 small ... It infects fish-eating mammals, including humans. In humans, it infects the common bile duct and gall bladder, feeding on bile ... Endemic to Asia and Russia, C. sinensis is the most prevalent human fluke in Asia and third-most in the world. It is still ... Humans are the major definitive hosts. Infection occurs when raw or undercooked fish contaminated with the metacercariae is ...
Transmembrane protein 242
The tmem242 gene is located on chromosome 6, on the long arm, in band 2 section 5.3. This protein is also commonly called ... The tmem242 gene is 35,238 base pairs long, and the protein is 141 amino acids in length. The tmem242 gene contains 4 exons. ... "TMEM242 transmembrane protein 242 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2019-02-26. v t e. ... Transmembrane Protein 242 is a protein encoded by the Transmembrane 242 (tmem242) gene located in the human genome. ...
The tmem242 gene is located on chromosome 6, on the long arm, in band 2 section 5.3. This protein is also commonly called ... The tmem242 gene is 35,238 base pairs long, and the protein is 141 amino acids in length. The tmem242 gene contains 4 exons. ... There are ubiquitous basal level expression of tmem242 in all tissues in human and mouse. There are other tissues with increase ... "Entrez Gene: chromosome 6 open reading frame 35". "transmembrane protein 242 [Homo sapiens]". Protein - NCBI. National Center ...
"C12orf66 chromosome 12 open reading frame 66 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-02-25 ... C12orf66 variant 1 is 36 Mbp in length spanning the base pairs 64,186,312 - 64,222,296 on chromosome 12. There are 3 total ... The human C12orf66 protein is 446 amino acids in length with a molecular weight of 50kdal . C12orf66 contains the domain of ... C12orf66 is a protein that in humans is encoded by the C12orf66 gene. The C12orf66 protein is one of four proteins in the ...
Transmembrane protein 155 is a protein that in humans is encoded by the TMEM155 gene. It is located on human chromosome 4, ... This gene spans from base pairs 121,758,930 and 121,765,427 on chromosome 4. The longest variant ofTMEM155 has 5 exons detailed ... TMEM155 is located on the minus strand of human chromosome 4 (4q27) and spans 13,611 base pairs. Cytogenetic band: 4q27 TMEM155 ... August 2017). "The transcriptome of human oocytes is related to age and ovarian reserve". Molecular Human Reproduction. 23 (8 ...
Tamura T, Izumikawa Y, Kishino T, Soejima H, Jinno Y, Niikawa N (1994). "Assignment of the human PAX4 gene to chromosome band ... Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes ... is a protein which in humans is encoded by the PAX4 gene. This gene is a member of the paired box (PAX) family of transcription ...
Fibrinogen gamma chain
... , also known as fibrinogen gamma gene (FGG), is a human gene found on chromosome 4. The protein encoded ... by this gene is the gamma component of fibrinogen, a blood-borne glycoprotein composed of three pairs of nonidentical ...
... is located on the short arm of chromosome 16 in humans, in the thirteenth open reading frame. There are five transcript ... The primary transcript of this gene is 1,919 base pairs long. Using the Dotlet program, a dot plot was constructed comparing ... The human expression profile from NCBI UniGene suggests that this gene has widespread expression in many different tissues in ... "Homo sapiens chromosome 16, GRCh37.p5 Primary Assembly - Nucleotide - NCBI". Ncbi.nlm.nih.gov. 2012-04-04. Retrieved 2012-05-18 ...
The gene product is a 1,441 base pair mRNA with 8 predicted exons in the human gene. As predicted by Ensemble, there exists one ... The predicted promoter region spans 714 basepairs from 4,246,532 to 4,247,245 on the plus strand of chromosome 19. CCDC94 is ... The human form as 323 amino acid residues, with an isoelectric point of 5.618 and a molecular mass of 37,086 Daltons. There are ... Coiled-coil domain containing 94 (CCDC94), is a protein that in humans is encoded by the CCDC94 gene. The CCDC94 protein ...
"C2orf81 chromosome 2 open reading frame 81 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-05-06. ... The mRNA sequence contains and 2086 base pairs and 4 isoforms. C2orf81 has a molecular weight of 66.6 kDa and its isoelectric ... In human c2orf81, phosphorylation is expected to be undergone only in serines, but not in any threonines or tyrosines. O-linked ... C2orf81 is a human gene encoding protein c2orf81, which is predicted to have nuclear localization. C2orf81's aliases are ...
The human TBR1 gene is located on the q arm of the positive strand of chromosome 2. It is 8,954 base pairs in length. TBR1 is ... "Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins". ... Orthologs of the human TBR1 gene have been identified in chimpanzee, dog, cow, rat, mouse, and zebrafish. In mice, TBR1 has ... It was discovered that Tbr-1 is expressed by postmitotic cortical neurons in mice and in humans. One target gene of TBR1 in the ...
The NDUFB4 gene, located on the q arm of chromosome 3 in position 13.33, is 6,130 base pairs long. The NDUFB4 protein weighs 15 ... The human NDUFB4 gene codes for a subunit of Complex I of the respiratory chain, which transfers electrons from NADH to ... GRCh38: Ensembl release 89: ENSG00000065518 - Ensembl, May 2017 "Human PubMed Reference:". National Center for Biotechnology ... human) ]". Voet D, Voet JG, Pratt CW (2013). "Chapter 18". Fundamentals of biochemistry: life at the molecular level (4th ed ...
... is located on the negative strand of chromosome 12 (12p12.3) and spans 10,460 base pairs (chr12:14,803,723-14,814,182). ... Single-pass membrane and coiled-coil domain-containing protein 3 is a protein that is encoded in humans by the SMCO3 gene. ... The promoter region of SMCO3 is 1,100 base pairs long and begins 961 base pairs upstream of the 5' UTR with the end of the ... The mRNA transcript of SMCO3 is 2,104 base pair long. There are no mRNA variants of SMCO3. The SMCO3 promoter has many ...
Chromosome 1 open reading frame 198 (C1orf198) is a protein that in humans is encoded by the C1orf198 gene. This particular ... The longest mRNA transcript comprises 3,778 base pairs and spans from 230,837,119 to 230,869,589 on chromosome 1. The span of ... "C1orf198 chromosome 1 open reading frame 198 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2019-02-28 ... S. Navani, The human protein atlas. J. Obstet. Gynecol. India. 61(2011), pp. 27-31. NCBI, NCBI Gene. Gene Cat.(2016), , doi: ...
Mutations in distinct genes, which encode the main cytoplasmic proteins of human lens, have been associated with cataracts of ... More than 25 loci and genes on different chromosomes have been associated with congenital cataract. ... paired-like homeodomain transcription factor 3 (PITX3), avian musculoaponeurotic fibrosarcoma (MAF), and heat shock ... transcription factor 4 (HSF4). All newborns should have screening eye examinations, including an evaluation of the red reflexes ...
Morn repeat containing 1
The MORN1 gene is located on Chromosome 1 at locus 1p36.33 and contains 7 MORN repeats. It has 1641 base pairs in 14 exons in ... 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. Bibcode:2006Natur.441.. ... MORN1 containing repeat 1, also known as Morn1, is a protein that in humans is encoded by the MORN1 gene. The function of Morn1 ... MORN1 is nearby the SKI gene which encodes the SKI protein, LOC100129534, and RER1 gene on the positive strand of chromosome 1. ...
... indicating that it is not needed for establishing the preceding stages of pairing and synapsis of homologous chromosomes. In an ... Yi W, Wu X, Lee TH, Doggett NA, Her C (Jul 2005). "Two variants of MutS homolog hMSH5: prevalence in humans and effects on ... Her C, Wu X, Griswold MD, Zhou F (Feb 2003). "Human MutS homologue MSH4 physically interacts with von Hippel-Lindau tumor ... Räschle M, Dufner P, Marra G, Jiricny J (Jun 2002). "Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha ...
... is located on the minus strand of the first chromosome at 1p36.13. The gene consists of 118,172 base pairs stretching ... human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-05-06. Database, GeneCards Human Gene. "TMCO4 Gene - GeneCards , ... The most common variant is X1, which includes all exons and spans the entire 118,172 base pairs. The most common protein ... "AceView: Gene:TMCO4, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView". www.ncbi.nlm.nih.gov ...
... and IRX4 are found on human chromosome 5, and their orientation corresponds to that of IRX3, IRX5, and IRX6 found on human ... The human gene product is a 1858 base pair mRNA with 4 predicted exons in humans. Promoter analysis was performed using El ... The predicted promoter region spans 1040 base pairs from position 3595468 through 3595468 on the forward strand of chromosome 5 ... "Cloning and chromosome mapping of human and chicken Iroquois (IRX) genes". Cytogenet. Cell Genet. 92 (3-4): 320-5. doi:10.1159/ ...
This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.. *v ... "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... Homeobox protein Hox-D8 is a protein that in humans is encoded by the HOXD8 gene. ... Goodman FR (2003). "Limb malformations and the human HOX genes". Am. J. Med. Genet. 112 (3): 256-65. doi:10.1002/ajmg.10776. ...
They are usually found in pairs (diplococci) and do not form spores and are nonmotile. As a significant human pathogenic ... For a bacterium to bind, take up, and recombine exogenous DNA into its chromosome, it must enter a special physiological state ... The genome of S. pneumoniae is a closed, circular DNA structure that contains between 2.0 and 2.1 million base pairs depending ... pneumoniae can be found in the human upper respiratory system. A study of competition in vitro revealed S. pneumoniae ...
When adenine is deaminated, it becomes hypoxanthine, which can pair with cytosine. During replication, the cytosine will pair ... It further contends that only a minority of the genetic material is kept in circular chromosomes while the rest is in branched ... but not human mtDNA). ... Hypoxanthine can bind to cytosine, and when the XC base pair is ... Chloroplast DNAs are circular, and are typically 120,000-170,000 base pairs long. They can have a contour length of ...
... except that the sequences at these loci may differ between the two chromosomes in a matching pair and that a few chromosomes ... For organisms in which the male is heterogametic, such as humans, almost all X-linked genes are hemizygous in males with normal ... chromosomes because they have only one X chromosome and few of the same genes are on the Y chromosome. Transgenic mice ... A chromosome in a diploid organism is hemizygous when only one copy is present. The cell or organism is called a hemizygote ...
Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene. ... Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... Poleev A, Fickenscher H, Mundlos S, Winterpacht A, Zabel B, Fidler A, Gruss P, Plachov D (November 1992). "PAX8, a human paired ... Members of this gene family typically encode proteins which contain a paired box domain, an octapeptide, and a paired-type ...
Genome - Simple English Wikipedia, the free encyclopedia
ENCODE: the complete analysis of the human genome. References[change , change source]. *↑ Hans Winkler, Professor of Botany at ... "I propose the expression genome for the haploid chromosome set, which, together with the pertinent protoplasm, specifies the ... Genome size (base pairs) Note Virus, Bacteriophage MS2 3569 First sequenced RNA-genome ... However, no single haploid chromosome set defines even the DNA of a species. Because of the huge variety of alleles carried by ...
... is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6 (not to be ... 1 million base pairs centromeric from DQ2.5 may also be associated with Type 1 diabetes. In addition the BAT1 and MICB variant ... These unique chromosomes are produced by recombination of each unique chromosome passed by each grandparent to each parent. ... At 4.7 million nucleotides in length, A1::DQ2 is the second longest haplotype identified within the human genome. A1::DQ2 ...
Because RPS6KA3 is located on the X chromosome, males (who possess only one copy of the X chromosome) display more severe ... "Coffin-Lowry syndrome". European Journal of Human Genetics 18, 627-633 (2010). doi:10.1038/ejhg.2009.189 ... In 2002, Helen Fryssira and RJ Simensen identified a 3 base pair deletion in the gene encoding RSK2, which was the first report ... The syndrome is caused by mutations in the RPS6KA3 gene. This gene is located on the short arm of the X chromosome (Xp22.2 ...
By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... "American Journal of Human Genetics. 64 (1): 225-31. doi:10.1086/302198. PMC 1377721. PMID 9915962.. ... Van Den Berghe, Pierre L (2010). "Human inbreeding avoidance: Culture in nature". Behavioral and Brain Sciences. 6: 91-102. doi ... HumansEdit. See also: Incest, Incest taboo, Pedigree collapse, and Cousin marriage ...
Fluorescence in situ hybridization
... so each human chromosome can be identified by a characteristic color using whole-chromosome probe mixtures and a variety of ... Each probe for the detection of mRNA and lncRNA is composed of 20 oligonucleotide pairs, each pair covering a space of 40-50 bp ... The chromosomes can be seen in blue. The chromosome that is labeled with green and red spots (upper left) is the one where the ... Then, an interphase or metaphase chromosome preparation is produced. The chromosomes are firmly attached to a substrate, ...
Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the PSEN1 gene. Presenilin-1 is one of the four ... Kang DE, Soriano S, Xia X, Eberhart CG, De Strooper B, Zheng H, Koo EH (September 2002). "Presenilin couples the paired ... "Genetic linkage evidence for a familial Alzheimer's seasesease locus on chromosome 14". Science. 258 (5082): 668-71. Bibcode: ... Tanahashi H, Tabira T (February 1999). "Isolation of human delta-catenin and its binding specificity with presenilin 1". ...
Mycobacterium avium subspecies paratuberculosis
... genome of MAP strain K-10 was sequenced in 2005 and found to consist of a single circular chromosome of 4,829,781 base pairs, ... It has long been suspected as a causative agent in Crohn's disease in humans, but studies have been unable to show ... Recent studies have shown that MAP present in milk can survive pasteurization, which has raised human health concerns due to ... It is the causative agent of Johne's disease, which affects ruminants such as cattle, and suspected causative agent in human ...
Sigurdsson S, Van Komen S, Petukhova G, Sung P (Nov 2002). "Homologous DNA pairing by human recombination factors Rad51 and ... condensed chromosome. • nuclear chromosome, telomeric region. • nucleus. • nuclear chromatin. • lateral element. • cytosol. • ... nuclear chromosome. • mitochondrial matrix. • nucleolus. • mitochondrion. • perinuclear region of cytoplasm. • chromatin. • ... condensed nuclear chromosome. • macromolecular complex. Biological process. • regulation of protein phosphorylation. • strand ...
V. faba has a diploid (2n) chromosome number of 12 (six homologous pairs). Five pairs are acrocentric chromosomes and one pair ... It is of uncertain origin:160 and widely cultivated as a crop for human consumption. It is also used as a cover crop, the ... In much of the English-speaking world, the name "broad bean" is used for the large-seeded cultivars grown for human food, while ... might frown on human consumption. But in Liguria, a maritime region near northern Italy, fava beans are loved raw, and consumed ...
... even though the fox genome has 16 pairs of metacentric autosomes and the dog has 37 pairs of acrocentric autosomes. ... These were foxes that were eager to have human contact. By the 10th generation 18 percent of fox pups were in this "elite" ... Using 320 microsatellites Trut and co-workers showed that all 16 fox autosomes and one X chromosome were covered, and that ...
... usually have a single circular chromosome, with as many as 5,751,492 base pairs in Methanosarcina acetivorans,[130 ... making up about one in ten of all the prokaryotes in the human gut. In termites and in humans, these methanogens may in ... Circular chromosomes, similar translation and transcription to Eukarya. Circular chromosomes, unique translation and ... after the cell's chromosome is replicated and the two daughter chromosomes separate, the cell divides. In the genus ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... See also: Category:Genes on human chromosome 16.. The following is a partial list of genes on human chromosome 16. For complete ... "Chromosome 16". Genetics Home Reference. Retrieved 2017-05-06.. *. "Chromosome 16". Human Genome Project Information Archive ... Human chromosome 16 pair after G-banding.. One is from mother, one is from father. ...
... each human diploid cell (containing 23 pairs of chromosomes) has about 1.8 meters of DNA; wound on the histones, the diploid ... This involves the wrapping of DNA around nucleosomes with approximately 50 base pairs of DNA separating each pair of ... 85 (4): 435-43. doi:10.1139/o07-057. PMID 17713579.. *^ a b c d e f g h Barski A, Cuddapah S, Cui K, Roh TY, Schones DE, Wang Z ... of the human genome in five human cell lines". Genome Research. 17 (6): 691-707. doi:10.1101/gr.5704207. PMC 1891331. PMID ...
Genetically, there are 74 diploid chromosomes (36 pairs). Appearance. The crab-eating fox is predominantly greyish-brown ... its habitat is slowly shrinking due to human activity such as agriculture, as well as feral dogs' encroachment on its territory ... The adult female gives birth to one or two litters per year, and the breeding pair is monogamous. The pair ranges the plains ... It either hunts individually or lives in pairs; it eats crabs, lizards and different flying animals. It is easy to domesticate ...
Likewise, gray wolf Y-chromosomes have also been found in a few individual male Texan coyotes. This study suggested that ... By late 2012, it was estimated that there were at least 75 wolves and four breeding pairs living in the recovery areas, with 27 ... The Mexican wolf persisted longer in Mexico, as human settlement, ranching and predator removal came later than in the ... A pair of Mexican wolves with pups at Sevilleta Wolf Management Facility in Socorro, New Mexico ...
Pu'er with chrysanthemum is the most common pairing, and referred as guk pou or guk bou (菊普; Cantonese Yale: guk1 pou2; pinyin ... Larger specimens of this shape are sometimes called "human-head tea" (人頭茶), due in part to its size and shape, and because in ... This notion has recently been refuted through a systematic chromosome analysis of the species attributed to many East Asian ... Wild trees (gŭshù, 古树; literally "old tree"): Teas from old wild trees, grown without human intervention, are the highest ...
分子演化 - 维基百科，自由的百科全书
Crosland, M.W.J., Crozier, R.H. Myrmecia pilosula, an ant with only one pair of chromosomes. Science. 1986, 231 (4743): 1278. ... Ijdo, J. W., Baldini, A., Ward, D. C., Reeders, S. T., & Wells, R. A. Origin of human chromosome 2: an ancestral telomere- ... 選擇可以作用在基因而非個體的層級，即使降低個體的適應度，自私DNA仍然可以演化，造成基因組內部衝突。例子包括跳躍子、減數分裂驅動者（meiotic drivers）、殺手X染色體（killer X chromosomes）、自私粒線體（
Genes on human chromosome 11. *Genes on human chromosome 14. *Genes on human chromosome 20 ... In 1943, with the help of Arda Green, the pair illustrated that glycogen phosphorylase existed in either the a or b forms ... The cloning of the human liver glycogen phosphorylase (HLGP) revealed a new allosteric binding site near the subunit interface ... 62 (4): 785-91. doi:10.1086/301790. PMC 1377030 . PMID 9529348.. *^ Chang S, Rosenberg MJ, Morton H, Francomano CA, Biesecker ...
This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.. *v ... "Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for ... "AIDS Research and Human Retroviruses. 6 (3): 371-80. doi:10.1089/aid.1990.6.371. PMID 2187500.. ... Human GAA genome location and GAA gene details page in the UCSC Genome Browser. ...
HumansEdit. Humans are bilaterals and deuterostomes. In humans, the term embryo refers to the ball of dividing cells from the ... Pair-rule genes define 7 segments of the embryo within the confines of the second broad segment that was defined by the gap ... Thus, a fly whose chromosomes are mutant in both copies of the Bicoid gene but who is born from a mother carrying one normal ... As of today, human embryology is taught as a cornerstone subject in medical schools, as well as in biology and zoology programs ...
MSH4, a enciclopedia libre
Yi W, Wu X, Lee TH, Doggett NA, Her C (Jul 2005). "Two variants of MutS homolog hMSH5: prevalence in humans and effects on ... "hMSH4-hMSH5 recognizes Holliday Junctions and forms a meiosis-specific sliding clamp that embraces homologous chromosomes". ... Her C, Wu X, Griswold MD, Zhou F (Feb 2003). "Human MutS homologue MSH4 physically interacts with von Hippel-Lindau tumor ... Räschle M, Dufner P, Marra G, Jiricny J (Jun 2002). "Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha ...
History of England
"A Y Chromosome Census of the British Isles" (PDF).. *^ Härke, Heinrich; Thomas, Mark G; Stumpf, Michael P H. "Integration ... earthsky.org/human-world/jawbone-is-earliest-evidence-of-modern-humans-in-europe ... The Acts of Union between the Kingdom of England and the Kingdom of Scotland were a pair of Parliamentary Acts passed by both ... "Y Chromosome Evidence for Anglo-Saxon Mass Migration".. *^ " ... Continuous human habitation in England dates to around 13,000 ...
... chromosome translocation in a human leukemia T-cell line indicates that putative regulatory regions are not altered". Proc. ... 3.2) Paired box. PAX (1, 2, 3, 4, 5, 6, 7, 8, 9) ... to the human c-myc oncogene; presence of a long inverted repeat ... Astrin SM, Laurence J (1992). "Human immunodeficiency virus activates c-myc and Epstein-Barr virus in human B lymphocytes". Ann ... ARX • CDX (1, 2) • CRX • CUTL1 • DBX (1, 2) • DLX (3, 4, 5) • EMX2 • EN (1, 2) • FHL (1, 2, 3) • HESX1 • HHEX • HLX • Homeobox ...
"Final report on the human rights situation of the Roma, Sinti and travellers in Europe". The European Commissioner for Human ... "Y CHROMOSOME SINGLE NUCLEOTIDE POLYMORPHISMS TYPING BY SNaPshot MINISEQUENCING" (PDF). Bjmg.edu.mk. Retrieved 20 December 2016. ... and art present romanticized narratives of mystical powers of fortune telling or irascible or passionate temper paired with an ... European Journal of Human Genetics. 9 (2): 97-104. doi:10.1038/sj.ejhg.5200597. PMID 11313742. Archived from the original (PDF) ...
Glossary of biology
... including humans) or W chromosome rather than by the presence of two X chromosomes or two Z chromosomes.. basal body. An ... as a pair of nucleotide polymers bound together by complementary base pairing.. depolarization. The process of reversing the ... The scientific study of non-human animal behaviour (i.e. excluding human behaviour) and usually with a focus on behaviour under ... chromosome. A threadlike strand of DNA in the cell nucleus that carries the genes in a linear order.. cilia. circadian rhythm. ...
Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity
Previous linkage analysis of multiply affected families indicated that the gene for Wolfram syndrome is on chromosome 4p … ... Chromosomes, Human, Pair 4* * Female * Genetic Heterogeneity* * Genetic Linkage* * Genotype * Haploidy * Humans ... Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity Am J Hum Genet. 1996 Oct;59(4):855-63. ... We have investigated 12 U.K. families with Wolfram syndrome, and we report confirmation of linkage to chromosome 4p, with a ...
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant...
Chromosome Mapping * Chromosomes, Human, Pair 20* * DNA Primers * Epilepsy, Frontal Lobe / genetics* ... The gene for ADNFLE maps to chromosome 20q13.2-q13.3 in one large Australian kindred. The neuronal nicotinic acetylcholine ... A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant ... receptor alpha 4 subunit (CHRNA4) maps to the same region of 20q (ref. 12) and the gene is expressed in all layers of the ...
Category:Genes on human chromosome 4 - Wikimedia Commons
Chromosomes, Human, Pair 4 (en); Cromosoma 4 humano (gl); 4號染色體 (zh); 4 (da) ... Media in category "Genes on human chromosome 4". The following 11 files are in this category, out of 11 total. ... Category:Genes on human chromosome 4. From Wikimedia Commons, the free media repository ... human chromosome (en); 人類染色體 (zh-hk); 人类染色体 (zh); menschliches Chromosom (de) 4. kromozom (tr); Chromosome 4, Chromosome 4 ( ...
Chromosomes, Human, Pair 3 | Harvard Catalyst Profiles | Harvard Catalyst
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification. ... Human, Pair 3" by people in Harvard Catalyst Profiles by year, and whether "Chromosomes, Human, Pair 3" was a major or minor ... "Chromosomes, Human, Pair 3" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 3" by people in Profiles. ...
Complex chromosomal rearrangement involving chromosomes 1, 4 and 22 in an infertile male: case report and literature review.
4)(p22.3;q11.1;q31.1) in a infertile male with oligoastenoteratozoospermia (OAT). He was the second patient with complex ... Chromosomes / ultrastructure*. Chromosomes, Human, Pair 1*. Chromosomes, Human, Pair 22*. Chromosomes, Human, Pair 4*. ... Humans. Infertility, Male / genetics*. Male. Oligospermia / genetics. Spermatogenesis. From MEDLINE®/PubMed®, a database of the ... 6885076 - A deletion of heterochromatin only of the y chromosome in an azoospermic male.. 18953646 - Cytogenetic and y ...
DNA Protein Analysis Of Human Chromosome 6, Counts 166,880,988 Base Pairs, Covers Global Diseases | BioWorld
Location of facioscapulohumeral muscular dystrophy gene on chromosome 4.
10 Lecture Animation Ppt
Homologous Pairs of Chromosomes ,ul,,li,In diploid body cells chromosomes occur in pairs ,/li,,/ul,,ul,,li,Humans have 23 ... Changes in Chromosome a. b. pair of homologous chromosomes 2n 2n 2n + 1 2n + 1 2n + 1 2n - 1 normal normal pair of homologous ... 5. Homologous Chromosomes a. sister chromatids homologous pair chromosome chromosome Nonsister chromatids duplication ... 7. Homologous Pairs of Chromosomes ,ul,,li,Homologous chromosomes have genes controlling the same trait at the same position ,/ ...
Y-chromosome Adam Archives | Evolution News
Does Barcoding DNA Reveal a Single Human Ancestral Pair?. I dont think the study can claim all the things it does based on the ... in which they claim that there never was an original pair of humans like Adam and Eve. ... On Prejudiced Models and Human Origins. Recently Dennis Venema joined with Scot McKnight to publish a book, Adam and the Genome ... Mitochondrial Eve and Y-Chromosome Adam, and Adam and the Genome. Both evolutionists and Darwin-skeptics believe that all ...
Evolution Lesson: Comparison of Human and Chimp. Chromosomes
5. Students could work independently, in pairs, threes, or fours. You can provide a Information/Worksheet packet for each team ... 3. Encourage students to invert a chimp chromosome and place it next to the corresponding human chromosome, alining their ... Human Evolution Patterns. SEE "Chromosome Connections: Compelling Clues to Common Ancestry". Article by Larry Flammer published ... CHROMOSOME FUSION. This is a logical extension of any chromosome comparison lab. Students test the hypothesis that our ...
Chromosome 4: MedlinePlus Genetics
... base pairs) and represents more than 6 percent of the total DNA in cells. Learn about health implications of genetic changes. ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 4, one copy inherited from ... Ensembl Human Map View. *Goldfrank D, Schoenberger E, Gilbert F. Disease genes and chromosomes: disease maps of the human ... Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a ...
Greater Than 98% Chimp/Human DNA Similarity? Not Any More. | Answers in Genesis
... similarity of DNA between chimp and humans is incorrect. ... Humans have 23 pairs of chromosomes while chimpanzees have 24. ... While 18 pairs of chromosomes are virtually identical, chromosomes 4, 9 and 12 show evidence of being remodeled.5 In other ... Evolutionary scientists believe that one of the human chromosomes has been formed through the fusion of two small chromosomes ... The Y chromosome in particular is of a different size and has many markers that do not line up between the human and chimpanzee ...
CD1D | Cancer Genetics Web
Chromosomes, Human, Pair None. *Polymerase Chain Reaction. *Chronic Lymphocytic Leukemia. *Antigens, CD1d ... The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to ... Human papillomavirus type 16 was one of the common human papillomavirus types in all cases.. CONCLUSIONS: Cervical tumor LCs ... Using human ovarian surface epithelium, we cloned two new splice variants of the human follicle-stimulating hormone receptor ( ...
Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome | Science
B) Amplified view of chromosome 4 region. SVs in NA18505 are indicated with dashed lines (validation: squares); NA15510, dotted ... Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome. By Jan O. Korbel, Alexander Eckehart Urban, ... Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome. By Jan O. Korbel, Alexander Eckehart Urban, ... Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome Message Subject. (Your Name) has forwarded a page ...
Biology Quiz : Mitosis - Worksheet / Test Paper
... human organ systems, botany, zoology and other topics ... There are 23 pairs of chromosomes in each human cell.. 6. The ... 5. The number of chromosomes in a human cell is _______.. 2 4 23 46. Answer: Answer: 46. ... During the anaphase, longitudinal splitting of the chromosomes occurs.. 14. The interphase and mitosis together constitute the ... The nuclear membrane is formed around the newly-formed sets of daughter chromosomes during the telophase.. True. False Answer: ...
Genes: Function, makeup, Human Genome Project, and research
Humans have 23 pairs of chromosomes, or a total of 46. A donkey has 31 pairs of chromosomes, a hedgehog has 44, and a fruit fly ... A female inherits an X chromosome from each parent, but a male inherits an X chromosome from their mother and a Y chromosome ... Long strands of DNA with lots of genes make up chromosomes. DNA molecules are found in chromosomes. Chromosomes are located ... It aims to determine the sequence of the chemical pairs that make up human DNA and to identify and map the 20,000 to 25,000 or ...
Chromosome 4 Related Diseases
... of the DNA in the human genome and contains around 1000 to 1100 genes, some of which have been linked to human disease. ... This chromosome represents around 6% to 6.5% of the DNA in the human genome and contains around 1000 to 1100 genes. ... Cancers related to chromosome 4. The PDGFRA gene is found on chromosome 4. Deletion of a part of chromosome 4 resulting in the ... Chromosome 4 is the fourth largest of the 23 pairs of chromosomes in humans. Chromosome 4 spans about 191 million base pairs, ...
Copy of AP Bio- Information 4: Mitosis by Lea Richardson on Prezi
1 of 4 of my cell cycle unit. Image Credits: Biology (Campbell) 9th edition, copyright Pearson 2011, & The Internet. Provided ... 1 copy of every chromosome (n). 2 copies of every chromosome (2n). Human cells have 23 pairs of chromosomes. How many ... Most eukaryotic cells have 2 copies of every chromosome.. They form in attached, identical pairs.. Chromatid: 1 member of the ... Chromosomes begin to migrate to cell equator.. 2 complete spindles at cell poles.. Chromosomes are at metaphase plate.. Spindle ...
Human ape fused chromosomes paradigm - creation.com
... evolutionists claim that two chimp chromosomes fused to become one, but the power of the evolutionary paradigm trumps other ... Humans have 23 chromosome pairs, as we inherit 23 chromosomes from our father and 23 from our mother. Chimps inherit 24 ... Two pairs of human chromosomes had been found to be fused, he said, providing clear evidence of our shared ancestry with apes.3 ... If humans had been found to have 24 chromosome pairs, this would have been understood as evidence for common ancestry with apes ...
Meiosis | edHelper.com
Humans have forty-six chromosomes, arranged in twenty-three pairs. But human egg and sperm cells only have twenty-three ... For example, most cells of fruit flies have eight chromosomes, arranged as four similar pairs. But the egg or sperm cells of a ... Paragraphs 4 to 9:. For the complete story with questions: click here for printable. Weekly Reading Books Create Weekly Reading ... Cells formed through meiosis have only half the number of chromosomes or genetic material of the parent cell. ...
The Human Genome and Karyotype Flashcards by Joel Glotfelty | Brainscape
Study The Human Genome and Karyotype flashcards from Joel Glotfelty ... Characterized as having a normal number of chromosomes: 22 pairs of autosomes and one pair of sex chromosomes ... How many base pairs of DNA do humans have in each somatic cell of our bodies? ... associated with chromosomes. It is inherited solely from the mother in humans ...
The Average Human Has 60 New Genetic Mutations - Slashdot
This number was less than expected, leading the researchers to believe human evolution happens more slowly than p... ... Each parent contributes 23 chromosomes, and which chromosome gets contributed is random. The chances of any two children all ... The Average Human Has 60 New Genetic Mutations 246 Posted by samzenpus on Friday June 17, 2011 @11:49AM. from the magnetic- ... Just because that is the way the human brain likes to work doesnt mean that its a universal truth. Species do not exist as a ...
Replication timing - Wikipedia
... whereas all the other pairs of chromosomes replicate in the same temporal pattern. It was also noticed by Mary Lyon  that ... A diagrammatic representation of replication timing in a 70-Mb segment of human chromosome 2. The red horizontal line ... Replication timing and chromosome structure. Figure 5. Nucleus of a female amniotic fluid cell. Top: Both X-chromosome ... Chromosome Res 18: 115-125. *^ Taylor JH (1960) Asynchronous duplication of chromosomes in cultured cells of Chinese hamster. J ...
Genes & Chromosomes [M.Tevfik Dorak]
Sex chromosomes X and Y are the 23rd pair in humans. There are two Xs in females but only a single X in males, whereas the ... Chromosomes differ in their sizes. The smallest human chromosome is chromosome 21 (50 Mb) and the largest one is chromosome 1 ( ... Despite morphological dissimilarity, human sex chromosomes pair also in male meiosis and a single obligatory recombination ... Number of chromosome pairs: humans 23; gorilla 24; cattle 30; dog 39; mouse 20; goldfish 47; tobacco plants 24; peas 7; ...
Human Y-chromosome DNA haplogroup - Wikipedia
"one mutation in every 30 million base pairs" Karmin; et al. (2015). "A recent bottleneck of Y chromosome diversity coincides ... In human genetics, a human Y-chromosome DNA haplogroup is a haplogroup defined by mutations in the non-recombining portions of ... 2016). "The Divergence of Neandertal and Modern Human Y Chromosomes". The American Journal of Human Genetics. 98 (4): 728-34. ... Y-chromosome DNA (Y-DNA) haplogroups are the major branches on the human paternal family tree. Each haplogroup has many ...
'chromosomes human 4 5' Protocols and Video...
Chromosome 4 - Genetics Home Reference - NIH
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 4, one copy inherited from ... Ensembl Human Map View. *Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434( ... Ensembl Human Map View. *. Goldfrank D, Schoenberger E, Gilbert F. Disease genes and chromosomes: disease maps of the human ... Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a ...
Chapter 4 Building Model Essay - 685 Words | Bartleby
A chromosome consists of millions of base pairs, some of which are called genes. In humans, a single gene may be on average ... Chapter 3 & 4. 1546 Words , 7 Pages. *. Factors Of The Force Reduction Factor From The Statistical Analysis Of 15 Western Usa ... CHAPTER 4 RESULT AND DISCUSSION 4.1 Introduction In this chapter, the result and analysis of all case studies indicated in the ... Chapter 3 & 4. 1546 Words , 7 Pages. Chapter 3 #2 - When is a companys competitive advantage most likely to endure over time? ...
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Understanding the Y Chromosome
The Y chromosome provides a male sex to the human embryo and is inherited from the father, it is also considerably shorter than ... In this article we will have a closer look at the Y chromosome; what we currently know about the male chromosome and what the ... The Y chromosome is one of the sex chromosomes that is involved in sex determination. ... Humans have 23 pairs of chromosomes which contain all information required for the creation of an offspring. Out of the 23 ...
GenomeBase PairsMitosisDiploidProphaseGeneticsSister chromatidsIndividual chromosomesMetaphase plateSeparation of homologous chromosomesAllelesChromatidsFound on chromosomeSequencesMammalianAnother gene on chromosome 14MeiosisHaploid2018SequenceIdenticalCellsExonsGametesAbnormalitiesChimpanzeeReplicationTelophaseAutosomal chromosomesSpermDeletionSomaticOrganismRecombinationHomologous PairsResearchersChimpanzeesInterphaseTranslocation involvingTelomeresArtificial chromosomesExtra copy of chromosomeOccursNucleusMutationsEvolutionaryGenetic materialChromosomal rearrangementSpeciesFacioscapulohumeral muscularMaternal originSingle-nucleotide poCellMeioticPaternal and maternalAnaphaseDeoxyribonucleic acidAncestralEvolutionistsConsistsCopy of the X chromosomeStructuresBacterial artificialRegion of chromosomeStrandsProteins called histonesOccur
- Recently Dennis Venema joined with Scot McKnight to publish a book, Adam and the Genome , in which they claim that there never was an original pair of humans like Adam and Eve. (evolutionnews.org)
- Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). (wikipedia.org)
- The human genome contains five CD1 family genes organized in a cluster on chromosome 1. (cancerindex.org)
- This chromosome represents around 6% to 6.5% of the DNA in the human genome and contains around 1000 to 1100 genes. (news-medical.net)
- We introduce high-throughput and massive paired-end mapping (PEM), a large-scale genome-sequencing method to identify structural variants (SVs) ∼3 kilobases (kb) or larger that combines the rescue and capture of paired ends of 3-kb fragments, massive 454 sequencing, and a computational approach to map DNA reads onto a reference genome. (sciencemag.org)
- 50 kb) of the human genome was recently found to be widespread in healthy individuals ( 1 - 4 ), with ∼4000 affected genomic loci currently listed in the Database of Genomic Variants (DGV) ( 2 ). (sciencemag.org)
- The large number of paired-end reads was optimally mapped to the human genome computationally ( 12 ). (sciencemag.org)
- The information generated from the Genome Projects will be of the greatest value if it can be converted into functional data, particularly if this increases our understanding of normal gene function and allows strategies to be developed for prevention and treatment of human disease. (pubmedcentralcanada.ca)
- Genes on chromosome 11 are among the estimated 20,000 to 25,000 total genes in the human genome. (news-medical.net)
- Today, they make up about 5% of the human genome and have probably been a major driving force in the ape evolution. (discovermagazine.com)
- The map showed that about a third of the duplications in the human genome are unique to us, and most of the remaining duplications are ones we share with chimps. (discovermagazine.com)
- In a separate project, an international consortium of researchers has sequenced the genome of the Anopheles gambiae mosquito*, which transmits the parasite to humans. (sanger.ac.uk)
- The draft human genome was published by an international consortium in February 2001. (sanger.ac.uk)
- The work was carried out in the UK at the Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, which also carried out one-third of the human genome sequencing programme , and in the USA at The Institute for Genomic Research and Stanford University . (sanger.ac.uk)
- The Plasmodium falciparum genome, which consists of 24 million base pairs of DNA is divided into 14 chromosomes- compared to 23 in the human genome. (sanger.ac.uk)
- The Institute for Genome Research (TIGR) sequenced 2, 10, 11 and 14 : Stanford sequenced chromosome 12. (sanger.ac.uk)
- In essence,' Willard said, 'there is not one human genome, but two -- male and female. (latimes.com)
- Scientists estimate that there may be as many as 30,000 genes in the chemical DNA blueprint for human growth and development known as the human genome. (latimes.com)
- The human IL-4 gene, which occurs as a single copy in the haploid genome, is mapped on chromosome 5. (jimmunol.org)
- National Human Genome Research Institute (NHGRI) - Homepage. (wikibooks.org)
- The draft human genome sequence (about 3 billion base pairs) was completed in 2001. (mja.com.au)
- The completion of the draft sequence of the human genome in 2001 was one of the great milestones of science. (mja.com.au)
- It is important to appreciate that the Human Genome Project is just the flagship of a fleet of studies to explore the molecular and genetic basis of life and its diversity, which will provide the scientific and technological "scaffolding" for understanding the human genome and human biology. (mja.com.au)
- One of the challenges in studying common human diseases has been the general lack of technologies that allow us to measure the entire genome (all 3*10 9 nucleotides) quickly and inexpensively. (computingreviews.com)
- If susceptibility to disease is determined by many different genes working together in a network, then we need to be able to measure all relevant DNA sequence variations across the human genome. (computingreviews.com)
- The accessibility of inexpensive chips has ushered in the era of the "genome-wide" or "whole-genome" association study that is expected to revolutionize human genetics [ 2 , 3 ]. (computingreviews.com)
- Just around the corner are new technologies that will allow us to measure the entire genome of an individual for less than $1,000 [ 4 ]. (computingreviews.com)
- Kinetochore clustering, frequently observed in yeasts, plays a key role in genome organization and chromosome segregation. (asm.org)
- Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination. (nih.gov)
- Recurrent rearrangements of the human genome resulting in disease or variation are mainly mediated by non-allelic homologous recombination (NAHR) between low-copy repeats. (nih.gov)
- We hypothesized that HERV elements throughout the genome can serve as substrates for genomic instability and result in human copy-number variation (CNV). (nih.gov)
- We used these parameters to identify HERV pairs genome-wide that may cause instability. (nih.gov)
- Our analysis highlighted 170 pairs, flanking 12.1% of the genome. (nih.gov)
- In human genome the information is packed in 23 pairs of chromosome, one set of pair contributed by each parent. (dailyexcelsior.com)
- Researchers and doctors can identify the country and edit the genome of embryos as per the choice of the parents in case the country of origin does not allow editing human embryos. (dailyexcelsior.com)
- Chromosome 4 spans about 191 million DNA building blocks (base pairs) and represents more than 6 percent of the total DNA in cells. (medlineplus.gov)
- The D4Z4 region consists of 11 to more than 100 repeated segments, each of which is about 3,300 DNA base pairs (3.3 kb) long. (medlineplus.gov)
- Chimpanzees and other apes have about 23 kilobases (a kilobase is 1,000 base pairs of DNA) of repeats. (answersingenesis.org)
- 1000 base pairs long. (answersingenesis.org)
- Surprisingly, the indels added an additional 3.4 % of base pairs that were different. (answersingenesis.org)
- Chromosome 4 spans more than 186 million base pairs (the building material of DNA) and represents between 6 and 6.5 percent of the total DNA in cells. (wikipedia.org)
- A gene is a tiny section of a long DNA double helix molecule, which consists of a linear sequence of base pairs. (medicalnewstoday.com)
- Chromosome 4 spans about 191 million base pairs, the building blocks of DNA, which are tightly packed and supercoiled to form the DNA's helical structure. (news-medical.net)
- How many base pairs of DNA do humans have in each somatic cell of our bodies? (brainscape.com)
- Physical (kbp, Mbp) distance is the number of base pairs between two loci but genomic distance (cM) is the recombination fraction between two loci. (tripod.com)
- The Y chromosome is made up of some 58 million base pairs and more than 95% of it is male specific. (brighthub.com)
- Figure 4 shows an example of such a profile across 70,000,000 base pairs of human Chromosome 2. (wikipedia.org)
- A chromosome consists of millions of base pairs, some of which are called genes. (bartleby.com)
- In humans, a single gene may be on average around 10 to 50 thousand base pairs long. (bartleby.com)
- As I learned from an article that was sent to me by Peter F., all the difference may boil down to 117 base pairs on the 20th chromosome. (blogspot.com)
- Recall that all the information needed to create and run an organism is digitally stored in the DNA molecule, a sequence of base pairs. (blogspot.com)
- In total, they carry a few gigabytes of genetic information (3.08 billion base pairs or 6.16 billion bits), not far from an operating system. (blogspot.com)
- The researchers have previously looked for active genes - shorter sequences of base pairs that play some role (not just junk DNA) - and they have found essentially one solution: the MIR 941-1 gene (it also produces equally named MicroRNA molecules in all our, eukaryotic cells). (blogspot.com)
- These 117 base pairs (it's not an accident that the number is a multiple of three! (blogspot.com)
- But these 117 base pairs are 234 bits or 29.25 bytes of information only. (blogspot.com)
- The profile or position-weight matrix ( 7 - 9 ), in which variation is modeled at each position in the binding site, independently of the neighboring base pairs, is more widely applicable. (pnas.org)
- The blackened boxes indicate base pairs that are identical in all three species. (nih.gov)
- The DNA in the two BRCA genes, like that in other human genes, is a double helical molecule, each side of which is joined, like the rungs of a ladder, by two complementary chemicals called base pairs-adenine, which always links to thymine, and cytosine, which always links to guanine. (nybooks.com)
- 5'-Flanking regions of human and mouse IL-4 genes share about 85% homology extending more than 500 base pairs upstream of a "TATA" like sequence. (jimmunol.org)
- Chromosome 13 spans about 113 million base pairs (the building material of DNA ) and represents between 3.5 and 4 % of the total DNA in cells . (bionity.com)
- The human trpa1 gene is in chromosome 8q13 and consists of 27 exons and spans 55,701 base pairs. (springer.com)
- Human telomeres are programmed to lose ∼100 base pairs (bp) per population doubling (PD), resulting in senescence after ∼50 PDs ( 2-4 ). (sciencemag.org)
- Here we present approximately 237 million base pairs of sequence for chromosome 2, and 186 million base pairs for chromosome 4, representing more than 99.6% of their euchromatic sequences. (uniprot.org)
- 4. During which stage of mitosis do nucleoli reappear? (syvum.com)
- 7. During which stage of mitosis do chromatids separate to form two sets of daughter chromosomes? (syvum.com)
- 13. During which stage of mitosis does longitudinal splitting of the chromosomes occur? (syvum.com)
- 16. During mitosis, loosely arranged strands of chromosomes become coiled, shortened and distinct during the metaphase. (syvum.com)
- During mitosis, DNA is packaged into chromosomes. (brainscape.com)
- 3)If a fly has a diploid number of 12, how many chromosomes would there be in each cell at the end of telophase of mitosis? (biology-online.org)
- Meiosis and Mitosis describe cell division in eukaryotic cells when the chromosome separates. (differencebetween.net)
- In mitosis chromosomes separates and form into two identical sets of daughter nuclei, and it is followed by cytokinesis (division of cytoplasm). (differencebetween.net)
- However, in the fission yeast Schizosaccharomyces pombe , kinetochores are clustered in interphase but uncluster during mitosis ( 4 ). (asm.org)
- In C.elegans (a nematode), the sexes differ in their chromosome numbers: the male is haploid for the sex chromosome (X,O) and the female is diploid (X,X) resulting in a total of 11 diploid chromosomes in males and 12 in females. (tripod.com)
- Haploid ( n ) number is the number of chromosomes in germ cells (23 in humans), diploid (2 n ) number is the number of chromosomes in somatic cells (46 in humans). (tripod.com)
- This is called a diploid set of chromosomes . (doccheck.com)
- Normal diploid cells from humans show a limited capacity for proliferation in culture, 1 and this finite replicative lifespan has frequently been used as a model of human aging in mitotic tissues and organs. (wiley.com)
- State which cells in the human body are diploid and which are haploid. (coursehero.com)
- At fertilisation a haploid sperm fuses with a haploid egg, making a cell with the normal diploid (2n) number of chromosomes. (getrevising.co.uk)
- This animation represents a simplified example of gamete formation during meiosis, in the case of a diploid cell with two pairs of homologous chromosomes. (edumedia-sciences.com)
- Loosely arranged strands of chromosomes become coiled, shortened and distinct during the prophase. (syvum.com)
- 10.1.1 Prophase 1 Chromosome become more visible because become shorter and coil up. (coursehero.com)
- 1. Prophase I--homologous chromosomes (each is composed of 2 chromatids) come together as pairs, a complex of 4 chromosomes known as a tetrad. (thefreelibrary.com)
- In human genetics, a human Y-chromosome DNA haplogroup is a haplogroup defined by mutations in the non-recombining portions of DNA from the male-specific Y chromosome (called Y-DNA). (wikipedia.org)
- Human Molecular Genetics. (wikipedia.org)
- 4 A transatlantic race then ensued to find the exact position of the gene, and a major competitor was Mark Skolnick, a respected and enterprising geneticist at the University of Utah and a cofounder of Myriad Genetics. (nybooks.com)
- An important goal of human genetics is to identify which genes and which specific DNA sequence variations (polymorphisms) play an important role in determining susceptibility to common diseases such as cancer, essential hypertension, and schizophrenia. (computingreviews.com)
- Human genetics has been very successful in identifying rare DNA sequence variations (mutations) that predict with virtual certainty whether an individual will develop a rare disease such as cystic fibrosis or sickle cell anemia. (computingreviews.com)
- I will briefly introduce some of the computational challenges we are facing in human genetics, hopefully as a way to motivate computer scientists to establish meaningful collaborations with geneticists and epidemiologists on the front lines of identifying genetic risk factors for common human diseases. (computingreviews.com)
- American Journal of Human Genetics. (elsevier.com)
- Genomics and Human Genetics 15: 47-70. (isogg.org)
- Human Genetics , published online 28 April 2017. (isogg.org)
- American Journal of Human Genetics , published online 25 April 2016. (isogg.org)
- The point the two sister chromatids join together is called centromere, and the ends of chromosomes are called telomere. (tripod.com)
- 2. Nondisjunction is the failure of chromosome pairs or sister chromatids to separate properly during cell division. (majortests.com)
- 2. DNA condenses to form double-armed chromosomes, made from two sister chromatids. (getrevising.co.uk)
- 4. The pairs of sister chromatids are then separated, four haploid cells (gametes) that are genetically different are produced. (getrevising.co.uk)
- The staining pattern of each chromosome is unique and helps to identify individual chromosomes (along with the size). (tripod.com)
- So, a human being has 23 pairs of chromosomes, or 46 individual chromosomes. (doccheck.com)
- An image of the dividing cells is taken when the chromosomes are all visible, and the individual chromosomes are cut out of the picture and rearranged on a separate medium based on size. (wikibooks.org)
- Chromosomes are at metaphase plate. (prezi.com)
- Mendel's second principle, independent assortment , occurs because each pair of homologous chromosomes line up at the metaphase plate in meiosis I independently of all other pairs of homologous chromosomes. (tripod.com)
- 3. Metaphase I - Homologous pairs move along the metaphase plate, kinetochore microtubules from both centrioles attach to the homologous chromosomes align along an equatorial plane. (differencebetween.net)
- In the absence of the metaphase plate arrangement, kinetochore clustering in yeast species is believed to facilitate timely kinetochore-microtubule interactions to achieve bivalent attachments of chromosomes during metaphase. (asm.org)
- On the other hand, kinetochores do not cluster at any stage of the cell cycle in most metazoans, where the formation of the metaphase plate aligns all chromosomes on a single plane. (asm.org)
Separation of homologous chromosomes1
- Mendel's first principle, segregation , is the direct result of the separation of homologous chromosomes during anaphase I of meiosis. (tripod.com)
- Alleles are found in the same position ( locus ) on each chromosome in a homologous pair . (getrevising.co.uk)
- 1. DNA unravels and replicates so there are two copies of each chromosome, called chromatids . (getrevising.co.uk)
Found on chromosome3
- At the end of each chromosome is a string of repeating DNA sequences called a telomere. (answersingenesis.org)
- Although such genetic happenings are common on the Y chromosome, scientists have also identified regions which contain palindromic sequences which seem to help the Y chromosome retain its active functions. (brighthub.com)
-  One way simply measures the amount of the different DNA sequences along the length of the chromosome per cell. (wikipedia.org)
- In either case, we can measure the amount of the different DNA sequences along the length of the chromosome either directly using a machine that reads how much of each sequence is present or indirectly using a process called microarray hybridization. (wikipedia.org)
- Finally, it is not always possible to construct a multiple alignment of binding sites, because there may be no consistent choice for the sequences' orientations such that every pair of sequences is optimally aligned. (pnas.org)
- 5 Telomeric repeats of DNA sequences at chromosome ends are shortened by 33-120 bp with each cell division in human fibroblasts 6 and lymphocytes 7 in vitro , but the question of telomere shortening with aging in many other cell types, and human tissues and organs in vivo remains unclear. (wiley.com)
- Here we describe the use of bacterial artificial chromosome clones to rapidly survey hundreds of kilobases of DNA for potential regulatory sequences surrounding the mouse bone morphogenetic protein-5 (Bmp5) gene. (nih.gov)
- Several patches of sequences are found in the 5'-flanking region of the human IL-4 gene which are homologous to sequence in the 5'-flanking regions of the IL-2, IL-3, IL-5, and granulocyte-macrophage (GM)-CSF genes. (jimmunol.org)
- Divergence between samples of chimpanzee and human DNA sequences is 5% counting indels. (answers.com)
- Chromomeres and their associated loops on lampbrush chromosomes are not genetic units although in some special cases, they consist of specific families of repeated DNA sequences. (springer.com)
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (uniprot.org)
- Chromosome 19 was determined to have the largest fraction of reference sequences within susceptibility regions as a percentage of chromosome length (Figure 2). (nih.gov)
- 3 This conclusion was largely based on a study by Jennifer Hughes and her team.The study used the assumption that "the mammalian X and Y chromosomes evolved from a single pair of autosomes [non-sex chromosomes]. (icr.org)
- Extensive analyses confirm the underlying construction of the sequence, and expand our understanding of the structure and evolution of mammalian chromosomes, including gene deserts, segmental duplications and highly variant regions. (uniprot.org)
- Here, the authors discuss on the models of chromosomal evolution and the contribution of chromosomal reorganisations in mammalian chromosome evolution, and more specifically, during the human-chimpanzee speciation event. (els.net)
Another gene on chromosome 142
- Here, a translocation of a part of chromosome 4 with another part (t(4;14)(p16;q32) causes the fusion of WHSC1 with another gene on chromosome 14. (news-medical.net)
- The translocation, which is written as t(4;14)(p16;q32), abnormally fuses the WHSC1 gene on chromosome 4 with part of another gene on chromosome 14. (nih.gov)
- Haplotype inspection of the remaining 11 families, which appear linked to chromosome 4p and had typical phenotypes, revealed crossover events during meiosis, which also placed the gene in the interval D4S432 and D4S431. (nih.gov)
- Telomeres have important functions such as preventing end-to-end fusion of chromosomes, assisting with chromosome pairing in meiosis, and ensuring complete replication of chromosome extremities. (tripod.com)
- Key points about meiosis: it halves the number of chromosomes per cell and it gives rise to new gene combinations (via crossing-over within the chromosomes and chromosomal re-assortment). (tripod.com)
- Cells formed through meiosis have only half the number of chromosomes or genetic material of the parent cell. (edhelper.com)
- Where does meiosis occur in humans? (utexas.edu)
- In the sexually reproducing dojo loach, reproductive cells divided through the normal process of meiosis, in which a single cell containing a full set of 50 chromosomes produces one egg containing 25 chromosomes. (phys.org)
- Eggs and sperm duplicate via meiosis, with 4 new gametes being produced in each cycle. (wikibooks.org)
- If there is a mistake during meiosis, a chromosome pair might fail to properly separate and distribute into each forming cell, and a gamete might be left with two copies of a gene instead of one. (wikibooks.org)
- Meiosis is a reductional cell division where the number of chromosomes is divided into half. (differencebetween.net)
- Meiosis influence stable sexual reproduction by halving of ploidy or chromosome count. (differencebetween.net)
- In Muntiacus muntjac (a small SE Asian deer), the number of chromosomes differs between species: the Chinese subspecies has a haploid number of 23 (like humans) but the Assam subspecies has only 3 pairs of chromosomes. (tripod.com)
- This is the means by which a human being produces haploid (containing only 23 chromosomes) sex cells, or gametes. (thefreelibrary.com)
- Gametes have a haploid number (n) of chromosomes. (getrevising.co.uk)
- Some copies of chromosome 4 have a functional pLAM sequence, while others do not. (medlineplus.gov)
- Copies of chromosome 4 with a functional pLAM sequence are described as 4qA or "permissive. (medlineplus.gov)
- Grey data points each represent a different DNA sequence position along the length of chromosome 2 as indicated on the x axis, with more positive values on the y-axis indicating earlier replication. (wikipedia.org)
- The DNA sequence is divided into chromosomes. (blogspot.com)
- We find that miR-941 emerged de novo in the human lineage, between six and one million years ago, from an evolutionarily volatile tandem repeat sequence. (blogspot.com)
- Short gene sections called primers that bind only to chromosome sections with a high degree of sequence complementarity were used to locate genes of interest on the autosomes. (icr.org)
- 4 The only way to theoretically document the translocation claims is to sequence the actual genes of the mythical common ancestor-which does not exist-and then do the same comparisons Hughes completed to determine their location changes. (icr.org)
- In order to clarify whether TEC and DBA are allelic, we investigated the segregation of markers spanning the RPS19 gene region on chromosome 19q13.2 and performed sequence analysis of all exons in the RPS19 gene in seven TEC sibling pairs. (diva-portal.org)
- The human telomere is a simple repeating sequence of six bases, TTAGGG, located at the ends of chromosomes. (wiley.com)
- The team produced the first complete sequence of the X chromosome about two years after the decoding of the male Y chromosome. (latimes.com)
- Complete nucleotide sequence of the chromosomal gene for human IL-4 and its expression. (jimmunol.org)
- We have isolated a chromosomal DNA segment of the human IL-4 gene based on homology with a human IL-4 cDNA sequence and determined its complete nucleotide sequence. (jimmunol.org)
- Determining the sequence has laid the foundations for determining the complete set of proteins that are produced in the human (the "proteome"), but we do not know the function of most of these proteins. (mja.com.au)
- Even when a protein sequence allows a reasonably confident prediction of the biochemical action of the protein, such as a probable tyrosine kinase or serine protease, the role of these proteins in human physiology and development has not yet been determined. (mja.com.au)
- TRF2 is a sequence-specific DNA binding protein that binds to the duplex array of TTAGGG repeats at human telomeres and protects chromosome ends from end-to-end fusion ( 14-17 ). (sciencemag.org)
- While 18 pairs of chromosomes are 'virtually identical', chromosomes 4, 9 and 12 show evidence of being 'remodeled. (answersingenesis.org)
- They form in attached, identical pairs. (prezi.com)
- This idea is based on evaluations of modern X and Y sex chromosomes that evolutionists think resulted from an original common ancestral pair of identical chromosomes. (icr.org)
- From this comparison one could determine which genes were lost, which were gained, or which moved to other locations, assuming the X and Y chromosomes were once identical. (icr.org)
- But what if the two chromosomes were not originally identical and no Y chromosome "loss" has occurred? (icr.org)
- Each gamete is unique, in humans trillions of possible combinations, so having two fertilizations of genetically identical gametes is incredibly rare. (utexas.edu)
- Our proteins are virtually identical and our chromosomes have more or less the same structure. (discovermagazine.com)
- Although 96% of the DNA is similar overall, there are some very significant differences in some chromosomes, where other chromosomes are nearly identical. (answers.com)
- Specifically, 18 of the chromosomes of humans are nearly identical to those of chimpanzees, the rest are very different (eg: chromosomes 4, 9, 12, 21, and y). (answers.com)
- Fig. 1 ), focussing specifically on lampbrush bivalents, reported that "…… chromomeric patterns are rarely identical in the two homologues ", which was surprising and somewhat perplexing at the time, in view of the strikingly regular species specificity of chromomeric (=band) pattern in polytene chromosomes from dipteran flies. (springer.com)
- Expression of miR-378 was analyzed in ovarian cancer cell lines and human tumors vs. normal ovarian epithelial cells by qRT-PCR. (cancerindex.org)
- Chromosomes are located inside of the nucleus of cells. (medicalnewstoday.com)
- Most eukaryotic cells have 2 copies of every chromosome. (prezi.com)
- For example, most cells of fruit flies have eight chromosomes, arranged as four similar pairs. (edhelper.com)
- But the egg or sperm cells of a fruit fly have only four chromosomes. (edhelper.com)
- But human egg and sperm cells only have twenty-three chromosomes. (edhelper.com)
- For example, rearrangements (translocations) of genetic material between chromosome 4 and several other chromosomes have been associated with leukemias, which are cancers of blood-forming cells. (nih.gov)
- A specific translocation involving chromosome 4 and chromosome 14 is commonly found in multiple myeloma, which is a cancer that starts in cells of the bone marrow. (nih.gov)
- In eukaryotic cells (cells that package their DNA within a nucleus), chromosomes consist of very long linear double-stranded DNA molecules. (wikipedia.org)
- For most genes on this chromosome, both copies of the gene are expressed, or "turned on," in cells. (medlineplus.gov)
- A blastocyst is an early stage embryo-approximately four to five days old in humans and consisting of 50-150 cells. (slideshare.net)
- The fertilized egg (day 1) undergoes cell division to form a 2-cell embryo, followed by 4-cell, etc. until a ball of cells is formed by the fourth day. (slideshare.net)
- The human body has nearly 1013 cells. (cdc.gov)
- Each cell (except for red blood cells) contains a nucleus that houses these chromosomes. (cdc.gov)
- Interference with PSMB4 Expression Exerts an Anti-Tumor Effect by Decreasing the Invasion and Proliferation of Human Glioblastoma Cells. (nih.gov)
- PSMB4 knockdown decreased the expression levels of MMP2, MMP9 and cathepsin B and decreased proliferation, migration and invasion abilities in human GBM cells. (nih.gov)
- What do you need from humans to produce this cDNA, and what cells would you use as your source material? (utexas.edu)
- Their 'somatic' non-reproductive cells contain a full set of 50 chromosomes-25 from each parent-while their reproductive egg and sperm cells contain 25 chromosomes. (phys.org)
- How the reproductive process leads to 50 chromosomes in egg cells has been unclear. (phys.org)
- To better understand this mechanism, a research team including Masamichi Kuroda and Takafumi Fujimoto of Hokkaido University's Graduate School of Fisheries Sciences developed DNA probes to track the chromosomes in dojo loach's somatic and reproductive cells. (phys.org)
- Fluorescent signals indicate that the half of the chromosomes in the somatic cells of female clones are derived from type B (green signals). (phys.org)
- According to the results published in Chromosome Research, the fluorescent signals indicated that somatic cells of the female clones have 25 chromosomes derived from type B, providing evidence that their ancestral origin arose when type A and B mated. (phys.org)
- Within the cells of the body , the chromosome appear in pairs. (doccheck.com)
- To avoid any toxic effect from double sets of X genes, female cells randomly choose one copy of the X chromosome and silence it -- or so scientists had believed. (latimes.com)
- To investigate this variation, Carrel and Willard isolated cells from 40 women and measured the activity of hundreds of genes to see whether those on the second X chromosome were active or silent. (latimes.com)
- Based on interference analysis, eight groups of retroviruses have been identified that use different receptors on human cells ( 3 ). (pnas.org)
- The recent discovery of three new human-tropic retroviruses from pig and wild mouse origin ( 4 , 5 ) that represent additional interference groups ( 6 , 7 ) suggests that at least 11 distinct surface molecules can act as retrovirus receptors on human cells. (pnas.org)
- The 2.3-kb 5'-flanking region of the human IL-4 gene transiently transfected into Jurkat human T cell leukemia cells is activated efficiently in response to TPA and A23187 stimulation and, although less efficiently, by human T cell leukemia virus type I-encoded p40x or BPV-encoded E2 protein. (jimmunol.org)
- Chromosomes are found in the nucleus of all body cells. (rarediseases.org)
- Trisomy 13 can also result from an extra copy of chromosome 13 in only some of the body's cells (mosaic trisomy 13). (bionity.com)
- It is caused by abnormal cell division that involves the 21st chromosome pair of the 23 pairs of chromosome found in all normal human cells. (bartleby.com)
- They were able to show that the cells from which these male brain neurons are born share common characteristics to the cells that give rise to human brain neurons. (mid-day.com)
- They are glial cells -- companion and support cells of neurons.The newly identified pair of neurons -- called 'mystery cells of the male' or "MCMs" - create behavioural differences between the sexes by changing a brain circuit common to both. (mid-day.com)
- The "MCM" neurons are only made from glial cells that have male chromosomes. (mid-day.com)
- Primary human cells in culture invariably stop dividing and enter a state of growth arrest called replicative senescence. (sciencemag.org)
- Replicative senescence of human cells occurs as a consequence of the progressive shortening of the TTAGGG repeat tracts at chromosome ends ( 1 ). (sciencemag.org)
- Replicative senescence can be induced by either the p53 or the p16-retino blastoma (RB) pathways ( 4 , 12 , 13 ), but how these pathways are activated in cells with shortened telomeres is not known. (sciencemag.org)
- The data presented here argue against this view and suggest that the main event heralding the end of the replicative life of primary human cells is a failure in the protective function of critically shortened telomeres. (sciencemag.org)
- Retroviral-mediated overexpression of TRF2 in primary human IMR90 fibroblasts ( 19 ) resulted in accelerated telomere shortening ( Fig. 1 , A and B). Although IMR90 cells normally lose telomeric DNA at a rate of 99 to 112 bp per end per PD, TRF2 accelerated telomere attrition by 50 to 80%, from 165 to 181 bp per end per PD ( Fig. 1 B) ( Table 1 ). (sciencemag.org)
- Normal human reproductive cells have 23 chromosomes. (neowin.net)
- The most common of these abnormalities is a deletion of genetic material from chromosome 4 that removes approximately 800 DNA building blocks (nucleotides) and brings together parts of two genes, FIP1L1 and PDGFRA , creating the FIP1L1-PDGFRA fusion gene. (medlineplus.gov)
- the most tolerable of an intolerable condition (trisomies are the most common chromosome abnormalities in spontaneous abortions). (tripod.com)
- Chromosome Abnormalities Fact Sheet. (wikibooks.org)
- Some infants with ring chromosome 4 may have multiple characteristic features, such as a low birth weight, feeding difficulties, failure to grow and gain weight at the expected rate (failure to thrive), developmental delays, malformations of the skull and facial (craniofacial) region, heart defects, and/or other physical abnormalities. (rarediseases.org)
- Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes" (Letsou). (bartleby.com)
- I realize that there is are extremely rare genetic situations where some sex chromosome abnormalities exists. (uncommondescent.com)
- Human and Chimpanzee Karyotypes packet (four figures: 2a-2d) on 4 pages. (indiana.edu)
- 5 In other words, the genes and markers on these chromosomes are not in the same order in the human and chimpanzee. (answersingenesis.org)
- The Y chromosome in particular is of a different size and has many markers that do not line up between the human and chimpanzee. (answersingenesis.org)
- Scientists have prepared a human-chimpanzee comparative clone map of chromosome 21 in particular. (answersingenesis.org)
- 2010. Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content. (answers.com)
- 2002. 'Construction and analysis of a Human-Chimpanzee Comparative Clone Map. (answers.com)
- Chromosome 7 has suffered one inversion, fixed in gorilla, and another inversion fixed in human-chimpanzee ancestor. (els.net)
- therefore, the polymorphic state has persisted across multiple speciation nodes (gorilla-human-chimpanzee and human-chimp). (els.net)
- Replication timing refers to the order in which segments of DNA along the length of a chromosome are duplicated. (wikipedia.org)
- A diagrammatic representation of replication timing in a 70-Mb segment of human chromosome 2. (wikipedia.org)
- This shortening rate is faster than expected from the end-replication problem ( 5-8 ), suggesting active nucleolytic attack on chromosome ends. (sciencemag.org)
- During the telophase, the nuclear membrane appears around the two groups of chromosomes. (syvum.com)
- 15. The nuclear membrane is formed around the newly-formed sets of daughter chromosomes during the telophase. (syvum.com)
- 6. Telophase- de-condensation of chromosomes and surrounded by nuclear membranes, formation of cleavage furrow. (differencebetween.net)
- The male sperm & female egg consists of a single cell of 23 chromosomes each. (selfgrowth.com)
- In humans, both sperm and eggs have one set of chromosomes, 23 in number. (wikibooks.org)
- Trisomy 21 occurs when an egg or sperm comes in with an extra copy of chromosome 21, then, once an embryo is formed and starts to develop, the chromosome is replicated in every single cell of the embryo. (bartleby.com)
- However the application of CRISPR cas technology ( just few year old discovery) to human embryos, sperm, or eggs can precisely edit the defective gene and replace it with healthy gene if need be. (dailyexcelsior.com)
- Wolf-Hirschhorn syndrome is caused by a deletion at the end of the short arm of chromosome 4 at point 16.3 (4p16.3). (news-medical.net)
- Deletion of a part of chromosome 4 resulting in the fusion of PDGFRA and FIP1L1 (nearby) creates the FIP1L1-PDGFRA-fusion gene. (news-medical.net)
- This finding suggested that either one copy of the paternal chromosome 4 bore a deletion including the LRBA locus, or the patient inherited two copies of the mutant maternal LRBA allele. (frontiersin.org)
- Ring chromosome 4 is a rare disorder that is typically characterized by loss (deletion) of genetic material from both ends of the 4th chromosome and joining of the chromosomal ends to form a ring. (rarediseases.org)
- In addition, certain features may be similar to those seen in individuals with Wolf-Hirschhorn syndrome, which is a chromosomal disorder characterized by partial deletion (monosomy) of the short arm (p) of chromosome 4 (partial monosomy 4p) or features similar to those seen in individuals with partial deletion (monosomy) of the long arm (q) of chromosome 4 (partial monosomy 4q. (rarediseases.org)
- In most affected individuals, ring chromosome 4 appears to result from loss (deletion) of genetic material from both ends of the 4th chromosome and a joining of the ends to form a ring. (rarediseases.org)
- DiGeorge syndrome (DGS) is a rare type of a genetic disorder which is caused by the deletion of chromosome 22. (bartleby.com)
- It has also been shown that regions of the Y chromosome are constantly being lost by either deletions or recombination which might - so some scientists believe - eventually wipe out the male species from the human race. (brighthub.com)
- Moreover, their data suggested that sister chromosomes doubled from the same chromosome make pairs so that recombination between the chromosomes does not affect their clonality. (phys.org)
- Such recombination normally occurs between paternally-derived and maternally-derived chromosomes . (phys.org)
- Chromosome rearrangements, such as inversions, can suppress recombination thus contributing to a reduction of gene flow across genomic regions and the accumulation of genetic incompatibilities. (els.net)
- Distribution of recombination rates in human chromosome 4. (els.net)
- The dad places one set of the homologous pairs (ex: that longer set) behind his back, with a chromosome in each hand. (biologycorner.com)
- Now the 'mom' places one set of the homologous pairs behind her back and the male chooses. (biologycorner.com)
- Arrange the chromosomes into homologous pairs and figure out what phenotypes (appearance or trait) the offspring has. (biologycorner.com)
- Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
- This number was less than expected, leading the researchers to believe human evolution happens more slowly than previously thought. (slashdot.org)
- Researchers are working to determine which genes are included on the der(22) chromosome and what role these genes play in development. (medlineplus.gov)
- Hokkaido University researchers have developed a technique that allows them to track chromosomes during egg production in dojo loach Misgurnus anguillicaudatus. (phys.org)
- The plaintiffs had the support, expressed in friend-of-the-court briefs, of many parties representing the medical profession, biomedical researchers, and patients, all opponents of allowing anyone monopoly rights on human DNA . (nybooks.com)
- These latest developments mean researchers now have a detailed insight into the DNA or "book of life" for humans, parasites and mosquitoes- the three components in the malaria cycle. (sanger.ac.uk)
- Until now, researchers considered the shuffle of sex chromosomes at conception a simple matter of genetic roulette. (latimes.com)
- Researchers were surprised that they found so many unexpected differences in the behavior of the one sex chromosome that men and women share. (latimes.com)
- Though there is dramatic variation in the activation of genes on the X chromosomes that women inherit, there is none among those in men, the researchers reported. (latimes.com)
- The researchers found that the X chromosome, though relatively poor in genes, is rich in influence, deceptively subtle, and occasionally deadly to males. (latimes.com)
- The banding patterns seen on stained chromosomes from humans and chimpanzees are compared in detail, showing striking similarities. (indiana.edu)
- Humans have 23 pairs of chromosomes while chimpanzees have 24. (answersingenesis.org)
- The Britten 9 study looked at 779 kilobase pairs to carefully examine differences between chimpanzees and humans. (answersingenesis.org)
- Now, Tomas Marques-Bonet from the University of Washington has reconstructed the evolutionary history of these duplications by comparing them across the genomes of four primates - humans, chimpanzees, orang-utans and macaques. (discovermagazine.com)
- What percentage of DNA do humans and chimpanzees share? (answers.com)
- One Perspective Although it has commonly been stated in the past that humans and chimpanzees have 98.5% DNA similarity, this figure has recently been found to be incorrect. (answers.com)
- Newer research has suggested that there is approximately 96% genetic similarity between Humans and chimpanzees overall. (answers.com)
- Some specific examples of differences include: 1) Humans have 23 pairs of chromosomes in total while chimpanzees have 24. (answers.com)
- 2) Chimpanzees and other apes have telomeres about 23 kilobases long, whereas humans are completely unique among primates with much shorter telomeres only 10 kilobases long. (answers.com)
- 3) The Y chromosome in chimpanzees is smaller than that of humans and only 60% of the genes are similar to those of the y chromosome of humans. (answers.com)
- Chromosome 10 underwent one inversion fixed in humans and chimpanzees, and a new inversion fixed in gorilla. (els.net)
- Chromosomes are usually (in the interphase) dispersed throughout the nucleus but become compacted during metaphase of cell division. (tripod.com)
- A translocation involving chromosome 11 can cause a type of cancerous tumor known as Ewing sarcoma. (medlineplus.gov)
- Humans are unique among primates with much shorter telomeres only 10 kilobases long. (answersingenesis.org)
- 2 It is thought that telomeres have multiple roles, including protection against degeneration, reconstruction, fusion and loss, 3 as well as contributing to pairing of homologous chromosomes. (wiley.com)
- TRF2 protected critically short telomeres from fusion and repressed chromosome-end fusions in presenescent cultures, which explains the ability of TRF2 to delay senescence. (sciencemag.org)
Extra copy of chromosome2
- During the anaphase, longitudinal splitting of the chromosomes occurs. (syvum.com)
- Trisomy 13 occurs when each cell in the body has three copies of chromosome 13 instead of the usual two copies. (bionity.com)
- Klinefelter syndrome occurs when a boy is born with one or more extra X chromosomes. (healthtap.com)
- Down's Syndrome Down's syndrome is a genetic condition involving an extra chromosome, this change occurs around the time of conception. (bartleby.com)
- One possibility is that senescence occurs when one or more chromosome ends have lost all telomeric DNA. (sciencemag.org)
- However, it is an intriguing cellular mechanism with links to many poorly understood features of the folding of chromosomes inside the cell nucleus. (wikipedia.org)
- A cell's nucleus contains chromosomes, which are long, coiled packaged and organized chromatin (molecules of DNA). (avroarrow.org)
- Bottom left) The nucleus of each cell in the body contains chromosomes made up of tightly wound coils of DNA. (powershow.com)
- The human Y-chromosome accumulates roughly two mutations per generation. (wikipedia.org)
- Y-DNA haplogroups represent major branches of the Y-chromosome phylogenetic tree that share hundreds or even thousands of mutations unique to each haplogroup. (wikipedia.org)
- As a consequence, contractions of the D4Z4 region can lead to FSHD1, whereas mutations to SMCHD1 (chromosome 18) mutations causing hypomethylation of D4Z4 lead to FSHD2. (news-medical.net)
- Mutations in the human gene may contribute to the condition of Klippel-Feil syndrome, which is the failure of the vertebrae to segment near the top of the spine and possibly further down with symptoms including a short, immovable neck and a low hairline on the back of the head. (wikipedia.org)
- The disease results from changes (mutations) of a gene known as "huntington" located on the short arm (p) of chromosome 4 (4p16.3). (rarediseases.org)
- Huntington's disease is caused by changes (mutations) of a gene that is located on the short arm (p) of chromosome 4 (4p16.3). (rarediseases.org)
- Possible evolutionary relationships are explored, as are the chromosomes and relationships of other apes. (indiana.edu)
- 3. Predictions of similarities of chromosomes, based on the assumption of evolutionary relationships, can be tested. (indiana.edu)
- 3. demonstrate their understanding that degrees of similarities in chromosomes correspond to degrees of evolutionary relationship. (indiana.edu)
- 4. associate degrees of similarity with relative timing of evolutionary divergence. (indiana.edu)
- Evolutionary scientists believe that one of the human chromosomes has been formed through the fusion of two small chromosomes in the chimp instead of an intrinsic difference resulting from a separate creation. (answersingenesis.org)
- The Y chromosome serves as an evolutionary tracker since it is mostly conserved and transmitted from male to male offspring, this helps us make phylogenetic studies and identification of ancestry . (brighthub.com)
- Evolutionary scientists claim that the human male chromosome-the Y chromosome-is shrinking. (icr.org)
- This Y chromosome claim is an example of evolutionary assumptions redirecting investigation away from potentially productive research to speculative unproductive research. (icr.org)
- In general, more far is a specie (speaking in evolutionary terms) to human and more big is the difference. (answers.com)
- Evolutionary history of human chromosomes superimposed on the phylogeny of great apes. (els.net)
- Emanuel syndrome is caused by the presence of extra genetic material from chromosome 11 and chromosome 22 in each cell. (medlineplus.gov)
- These individuals have two normal copies of chromosome 11, two normal copies of chromosome 22, and extra genetic material from the der(22) chromosome. (medlineplus.gov)
- A karyotype a complete set of chromosomes of a particular species. (wikibooks.org)
- I think human people should get more deference than ones from other species, and that is how it generally happens in society. (sciforums.com)
- spireme threads which in some sense or other are serial aggregates which have a perfectly definite organisation and one that differs specifically from chromosome to chromosome and from species to species. (springer.com)
- Centromeres/kinetochores are clustered at the nuclear periphery in most studied yeast species ( 1 - 4 ). (asm.org)
- Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. (biomedsearch.com)
- Facioscapulohumeral muscular dystrophy is caused by genetic changes involving the long (q) arm of chromosome 4. (medlineplus.gov)
- Facioscapulohumeral muscular dystrophy can only occur in people who have at least one "permissive" copy of chromosome 4. (medlineplus.gov)
- This results in a brand new set of mixture of paternal and maternal origin chromosomes each one of which may have undergone rearrangement. (tripod.com)
- Specifically, our patient carried a small segmental isodisomy of maternal origin affecting 1 Mb of chromosome 4. (frontiersin.org)
- The blue chromosomes are of paternal origin while the red chromosomes are from maternal origin. (edumedia-sciences.com)
- Structural variants (SVs) may have a more significant impact on phenotypic variation than single-nucleotide polymorphisms (SNPs) ( 4 , 5 ). (sciencemag.org)
- The binding affinities of all potential NF-κB sites on human chromosome 22, together with the effects of known single-nucleotide polymorphisms, are calculated to determine likely functional variants. (pnas.org)
- Chromosome 3q arm gain linked to immunotherapy response in advanced cutaneous squamous cell carcinoma. (harvard.edu)
- Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)
- Because there are two copies of chromosome 4 in each cell, individuals may have two "permissive" copies of chromosome 4, two "non-permissive" copies, or one of each. (medlineplus.gov)
- There are 23 pairs of chromosomes in each human cell. (syvum.com)
- 1 of 4 of my cell cycle unit. (prezi.com)
- Chromosomes begin to migrate to cell equator. (prezi.com)
- This naming is due to the capacity of chromosomes to take up histological stains more effectively than other cell structures. (tripod.com)
- The Y chromosome makes up almost 2% of the total DNA in a cell. (brighthub.com)
- Figure 2 shows a cartoon of how this is generally envisioned to occur, while Figure 3 shows an animation of when different segments replicate in one type of human cell. (wikipedia.org)
- As a result of the extra chromosome, people with Emanuel syndrome have three copies of some genes in each cell instead of the usual two copies. (medlineplus.gov)
- If unwound and tied together, human DNA in one cell would stretch ~ 5 feet, but would be only 50 trillionths of an inch wide! (slideshare.net)
- Chromosomes lining up at middle of cell. (utexas.edu)
- In the female clones, the team found that the chromosomal material doubles twice so that when it divides, each results in an egg cell containing a full set of 50 chromosomes. (phys.org)
- Each cell contains one set of chromosomes- one comes from mother & other comes from father. (selfgrowth.com)
- Knowledge of the meiotic phase of the cell life cycle is important in understanding the radiosensitivity of the human oocyte. (thefreelibrary.com)
- 5) How many chromosomes would normally be found in a human stomach cell? (biology-online.org)
- The genes are parceled out in 23 pairs of rod-like structures called chromosomes contained in every cell of the body. (latimes.com)
- The IL-4 gene is inducible after treatment of human T cell clone by phorbol-12-myristate-13-acetate (TPA) and calcium ionophore A23187. (jimmunol.org)
- Klinefelter patients have an extra female X chromosome giving them 47 chromosomes in every cell instead of 46. (healthtap.com)
- At the time of the first meiotic division, the homologous chromosomes separate and randomly migrate towards one of two poles opposite each other. (edumedia-sciences.com)
- In our example, there are two possible arrangements at the end of the first meiotic division: either the maternal chromosomes migrate from one side and the paternal chromosomes the other, or we find a maternal and a paternal chromosome at each side. (edumedia-sciences.com)
- It is in a highly dynamic state that facilitates localised transcription whilst keeping the chromosome safe from structural changes that might impede its orderly progression up to and through meiotic metaphase 1. (springer.com)
Paternal and maternal1
- Mosaic paternal UPD leads to an imbalance in active paternal and maternal genes on chromosome 11, which underlies the signs and symptoms of the disorder. (medlineplus.gov)
- During the anaphase, the chromosomes divide at the centromere and start moving towards opposite poles. (syvum.com)
- Both evolutionists and Darwin-skeptics believe that all living humans trace back to a common female ancestor, and a common male ancestor. (evolutionnews.org)
Copy of the X chromosome1
- A boy is born with an extra copy of the x chromosome. (healthtap.com)
- The information molecule, the DNA, is tightly packed into structures called chromosomes which are responsible for carrying over the information from the parent to the offspring. (brighthub.com)
- 1989. Anterior boundaries of Hox gene expression in mesoderm-derived structures correlate with the linear gene order along the chromosome . (icr.org)
- The history of studies on the chromomeres of lampbrush chromosomes is outlined and evidence for the nature and function of these structures is collected and summarised. (springer.com)
- Gene expression from bacterial artificial chromosome (BAC) clones has been demonstrated to facilitate physiologically relevant levels compared to viral and nonviral cDNA vectors. (pubmedcentralcanada.ca)
Region of chromosome1
- A small percentage of retinoblastoma cases are caused by deletions in the region of chromosome 13 (13q14) containing the RB1 gene. (bionity.com)
Proteins called histones3
- Chromosomes have a unique structure, which helps to keep the DNA tightly wrapped around the proteins called histones. (medicalnewstoday.com)
- Chromosomes are packages of DNA, wound around proteins called histones. (creation.com)
- These chromosomes have a unique structure that helps in keeping the DNA wrapped around proteins called histones. (selfgrowth.com)
- Ring chromosome 4 is usually caused by spontaneous (de novo) errors very early in the development of the embryo that appear to occur randomly for unknown reasons (sporadically). (rarediseases.org)
- Chromosomal arms are colour coded, whereas yellow arrows and horizontal bars depict regions where double stand breaks occur along the chromosomes. (els.net)