Genes, Tumor Suppressor: Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.Tumor Suppressor Proteins: Proteins that are normally involved in holding cellular growth in check. Deficiencies or abnormalities in these proteins may lead to unregulated cell growth and tumor development.Loss of Heterozygosity: The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.Brain Neoplasms: Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain.Melanoma: A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445)Chromosomes, Human, Pair 3: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Tumor Suppressor Protein p53: Nuclear phosphoprotein encoded by the p53 gene (GENES, P53) whose normal function is to control CELL PROLIFERATION and APOPTOSIS. A mutant or absent p53 protein has been found in LEUKEMIA; OSTEOSARCOMA; LUNG CANCER; and COLORECTAL CANCER.Search Engine: Software used to locate data or information stored in machine-readable form locally or at a distance such as an INTERNET site.Astrocytoma: Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)NIH 3T3 Cells: A continuous cell line of high contact-inhibition established from NIH Swiss mouse embryo cultures. The cells are useful for DNA transfection and transformation studies. (From ATCC [Internet]. Virginia: American Type Culture Collection; c2002 [cited 2002 Sept 26]. Available from http://www.atcc.org/)United States Dept. of Health and Human Services: A cabinet department in the Executive Branch of the United States Government concerned with administering those agencies and offices having programs pertaining to health and human services.National Institute of General Medical Sciences (U.S.): Component of the NATIONAL INSTITUTES OF HEALTH. It conducts and supports basic biomedical research that is not targeted to specific diseases and funds studies on genes, proteins, and cells, as well as on fundamental processes like communication within and between cells and metabolism. It was established in 1962.Internet: A loose confederation of computer communication networks around the world. The networks that make up the Internet are connected through several backbone networks. The Internet grew out of the US Government ARPAnet project and was designed to facilitate information exchange.Information Storage and Retrieval: Organized activities related to the storage, location, search, and retrieval of information.Glioma: Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas (ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas (OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle. (From Escourolle et al., Manual of Basic Neuropathology, 2nd ed, p21)Prognosis: A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.Oligodendroglioma: A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655)Tumor Markers, Biological: Molecular products metabolized and secreted by neoplastic tissue and characterized biochemically in cells or body fluids. They are indicators of tumor stage and grade as well as useful for monitoring responses to treatment and predicting recurrence. Many chemical groups are represented including hormones, antigens, amino and nucleic acids, enzymes, polyamines, and specific cell membrane proteins and lipids.Multivariate Analysis: A set of techniques used when variation in several variables has to be studied simultaneously. In statistics, multivariate analysis is interpreted as any analytic method that allows simultaneous study of two or more dependent variables.Synteny: The presence of two or more genetic loci on the same chromosome. Extensions of this original definition refer to the similarity in content and organization between chromosomes, of different species for example.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Gene Duplication: Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.Chromosomes: In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Bibliometrics: The use of statistical methods in the analysis of a body of literature to reveal the historical development of subject fields and patterns of authorship, publication, and use. Formerly called statistical bibliography. (from The ALA Glossary of Library and Information Science, 1983)HungaryPublications: Copies of a work or document distributed to the public by sale, rental, lease, or lending. (From ALA Glossary of Library and Information Science, 1983, p181)Research: Critical and exhaustive investigation or experimentation, having for its aim the discovery of new facts and their correct interpretation, the revision of accepted conclusions, theories, or laws in the light of newly discovered facts, or the practical application of such new or revised conclusions, theories, or laws. (Webster, 3d ed)Biomedical Research: Research that involves the application of the natural sciences, especially biology and physiology, to medicine.Hemiptera: A large order of insects characterized by having the mouth parts adapted to piercing or sucking. It is comprised of four suborders: HETEROPTERA, Auchenorrhyncha, Sternorrhyncha, and Coleorrhyncha.Academies and Institutes: Organizations representing specialized fields which are accepted as authoritative; may be non-governmental, university or an independent research organization, e.g., National Academy of Sciences, Brookings Institution, etc.Stem Cell Factor: A hematopoietic growth factor and the ligand of the cell surface c-kit protein (PROTO-ONCOGENE PROTEINS C-KIT). It is expressed during embryogenesis and is a growth factor for a number of cell types including the MAST CELLS and the MELANOCYTES in addition to the HEMATOPOIETIC STEM CELLS.Instinct: Stereotyped patterns of response, characteristic of a given species, that have been phylogenetically adapted to a specific type of situation.Proto-Oncogene Proteins c-kit: A protein-tyrosine kinase receptor that is specific for STEM CELL FACTOR. This interaction is crucial for the development of hematopoietic, gonadal, and pigment stem cells. Genetic mutations that disrupt the expression of PROTO-ONCOGENE PROTEINS C-KIT are associated with PIEBALDISM, while overexpression or constitutive activation of the c-kit protein-tyrosine kinase is associated with tumorigenesis.Stem Cells: Relatively undifferentiated cells that retain the ability to divide and proliferate throughout postnatal life to provide progenitor cells that can differentiate into specialized cells.Mast Cells: Granulated cells that are found in almost all tissues, most abundantly in the skin and the gastrointestinal tract. Like the BASOPHILS, mast cells contain large amounts of HISTAMINE and HEPARIN. Unlike basophils, mast cells normally remain in the tissues and do not circulate in the blood. Mast cells, derived from the bone marrow stem cells, are regulated by the STEM CELL FACTOR.Hematopoietic Cell Growth Factors: These growth factors comprise a family of hematopoietic regulators with biological specificities defined by their ability to support proliferation and differentiation of blood cells of different lineages. ERYTHROPOIETIN and the COLONY-STIMULATING FACTORS belong to this family. Some of these factors have been studied and used in the treatment of chemotherapy-induced neutropenia, myelodysplastic syndromes, and bone marrow failure syndromes.Hematopoietic Stem Cells: Progenitor cells from which all blood cells derive.Mustelidae: A family of terrestrial carnivores with long, slender bodies, long tails, and anal scent glands. They include badgers, weasels, martens, FERRETS; MINKS; wolverines, polecats, and OTTERS.Nelson Syndrome: A syndrome characterized by HYPERPIGMENTATION, enlarging pituitary mass, visual defects secondary to compression of the OPTIC CHIASM, and elevated serum ACTH. It is caused by the expansion of an underlying ACTH-SECRETING PITUITARY ADENOMA that grows in the absence of feedback inhibition by adrenal CORTICOSTEROIDS, usually after ADRENALECTOMY.ItalyPrimed In Situ Labeling: A technique that labels specific sequences in whole chromosomes by in situ DNA chain elongation or PCR (polymerase chain reaction).Patient-Centered Care: Design of patient care wherein institutional resources and personnel are organized around patients rather than around specialized departments. (From Hospitals 1993 Feb 5;67(3):14)Nurse's Role: The expected function of a member of the nursing profession.Williams Syndrome: A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.Speech-Language Pathology: The study of speech or language disorders and their diagnosis and correction.Nursing Staff, Hospital: Personnel who provide nursing service to patients in a hospital.Nurses: Professionals qualified by graduation from an accredited school of nursing and by passage of a national licensing examination to practice nursing. They provide services to patients requiring assistance in recovering or maintaining their physical or mental health.Physical Therapists: Persons trained in PHYSICAL THERAPY SPECIALTY to make use of PHYSICAL THERAPY MODALITIES to prevent, correct, and alleviate movement dysfunction.
Comparative molecular genetic profiles of anaplastic astrocytomas/glioblastomas multiforme and their subsequent recurrences. (1/809)Malignant glial tumors (anaplastic astrocytomas and glioblastomas multiforme) arise mostly either from the progression of low grade precursor lesions or rapidly in a de novo fashion and contain distinct genetic alterations. There is, however, a third subset of malignant gliomas in which genetic lesions remain to be identified. Following surgical resection, all gliomas appear to have an inherent tendency to recur. Comparative molecular analysis of ten primary malignant gliomas (three anaplastic astrocytomas and seven glioblastomas multiforme) with their recurrences identified two distinct subgroups of recurrent tumors. In one group, primary tumors harbored genetic aberrations frequently associated with linear progression or de novo formation pathways of glial tumorigenesis and maintained their genetic profiles upon recurrence. In the other subset with no detectable known genetic mutations at first presentation, the recurrent tumors sustained specific abnormalities associated with pathways of linear progression or de novo formation. These included loss of genes on chromosomes 17 and 10, mutations in the p53 gene, homozygous deletion of the DMBTA1 and p16 and/ or p15 genes and amplification and/or overexpression of CDK4 and alpha form of the PDGF receptor. Recurrent tumors from both groups also displayed an abnormal expression profile of the metalloproteinase, gel A, and its inhibitor, TIMP-2, consistent with their highly invasive behavior. Delineation of the molecular differences between malignant glioblastomas and their subsequent recurrences may have important implications for the development of rational clinical approaches for this neoplasm that remains refractory to existing therapeutic modalities. (+info)
Polymorphisms in PTEN in breast cancer families. (2/809)Germline mutations in PTEN are the underlying genetic defect in Cowden disease, which is associated with a lifetime risk of 25-50% of developing breast cancer. To investigate the role of PTEN in inherited breast cancer in the absence of manifestations of Cowden disease, we screened 177 unrelated subjects with breast cancer who also had a family history of breast cancer in at least one relative. We found no disease associated PTEN mutations in this cohort, supporting previous studies suggesting that PTEN mutations do not contribute to inherited susceptibility to breast cancer without associated manifestations of Cowden disease. We did identify an association between a common polymorphism in intron 4 and lower mean age of diagnosis of breast cancer. While preliminary, these findings suggest that further study is warranted to determine whether this allelic variant of PTEN could function as a low penetrance breast cancer susceptibility allele. (+info)
Regulation of G1 progression by the PTEN tumor suppressor protein is linked to inhibition of the phosphatidylinositol 3-kinase/Akt pathway. (3/809)PTEN/MMAC1 is a tumor suppressor gene located on chromosome 10q23. Inherited PTEN/MMAC1 mutations are associated with a cancer predisposition syndrome known as Cowden's disease. Somatic mutation of PTEN has been found in a number of malignancies, including glioblastoma, melanoma, and carcinoma of the prostate and endometrium. The protein product (PTEN) encodes a dual-specificity protein phosphatase and in addition can dephosphorylate certain lipid substrates. Herein, we show that PTEN protein induces a G1 block when reconstituted in PTEN-null cells. A PTEN mutant associated with Cowden's disease (PTEN;G129E) has protein phosphatase activity yet is defective in dephosphorylating inositol 1,3,4,5-tetrakisphosphate in vitro and fails to arrest cells in G1. These data suggest a link between induction of a cell-cycle block by PTEN and its ability to dephosphorylate, in vivo, phosphatidylinositol 3,4,5-trisphosphate. In keeping with this notion, PTEN can inhibit the phosphatidylinositol 3,4, 5-trisphosphate-dependent Akt kinase, a downstream target of phosphatidylinositol 3-kinase, and constitutively active, but not wild-type, Akt overrides a PTEN G1 arrest. Finally, tumor cells lacking PTEN contain high levels of activated Akt, suggesting that PTEN is necessary for the appropriate regulation of the phosphatidylinositol 3-kinase/Akt pathway. (+info)
Analysis of the 10q23 chromosomal region and the PTEN gene in human sporadic breast carcinoma. (4/809)We examined a panel of sporadic breast carcinomas for loss of heterozygosity (LOH) in a 10-cM interval on chromosome 10 known to encompass the PTEN gene. We detected allele loss in 27 of 70 breast tumour DNAs. Fifteen of these showed loss limited to a subregion of the area studied. The most commonly deleted region was flanked by D10S215 and D10S541 and encompasses the PTEN locus. We used a combination of denaturing gradient gel electrophoresis and single-strand conformation polymorphism analyses to investigate the presence of PTEN mutations in tumours with LOH in this region. We did not detect mutations of PTEN in any of these tumours. Our data show that, in sporadic breast carcinoma, loss of heterozygosity of the PTEN locus is frequent, but mutation of PTEN is not. These results are consistent with loss of another unidentified tumour suppressor in this region in sporadic breast carcinoma. (+info)
Genetic aberrations in glioblastoma multiforme: translocation of chromosome 10 in an O-2A-like cell line. (5/809)We have examined the genetic aberrations in two near-diploid glioblastoma multiforme cell lines that appear to have arisen from different glial lineages. One cell line, Hu-O-2A/Gb1, expresses antigens and metabolic profiles characteristic of the oligodendrocyte-type-2 astrocyte (0-2A) lineage of the rat central nervous system. This line generates, in vitro, cells with characteristics of 0-2A progenitor cells, oligodendrocytes and astrocytes. The second cell line, IN1434, is derived from an astrocyte or a precursor cell restricted to astrocytic differentiation. In Hu-O-2A/Gb1 the sole homologue of chromosome 10 is disrupted at band 10p11-12.1 by translocation with chromosomes X and 15. The translocation breakpoint is localized between genetic markers D10S2103 and [D10S637, D10S1962, D10S355]. Other aberrations include a 5;14 translocation, deletion of the long and short arms of chromosome 16 and loss of one copy of the CDKN2 gene. IN1434 cells share some cytogenetic abnormalities with Hu-O-2A/Gb1 cells, despite their apparent derivation from a different biological origin, but also have translocations involving the long and short arms of chromosome 1 and the long arm of chromosome 7, and deletion of chromosome 13 at bands 13q12-21. (+info)
Exclusion of a major role for the PTEN tumour-suppressor gene in breast carcinomas. (6/809)PTEN is a novel tumour-suppressor gene located on chromosomal band 10q23.3. This region displays frequent loss of heterozygosity (LOH) in a variety of human neoplasms including breast carcinomas. The detection of PTEN mutations in Cowden disease and in breast carcinoma cell lines suggests that PTEN may be involved in mammary carcinogenesis. We here report a mutational analysis of tumour specimens from 103 primary breast carcinomas and constitutive DNA from 25 breast cancer families. The entire coding region of PTEN was screened by single-strand conformation polymorphism (SSCP) analysis and direct sequencing using intron-based primers. No germline mutations could be identified in the breast cancer families and only one sporadic carcinoma carried a PTEN mutation at one allele. In addition, all sporadic tumours were analysed for homozygous deletions by differential polymerase chain reaction (PCR) and for allelic loss using the microsatellite markers D10S215, D10S564 and D10S573. No homozygous deletions were detected and only 10 out of 94 informative tumours showed allelic loss in the PTEN region. These results suggest that PTEN does not play a major role in breast cancer formation. (+info)
Cloning and characterization of a secreted frizzled-related protein that is expressed by the retinal pigment epithelium. (7/809)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)
Frequent loss of heterozygosity for chromosome 10 in uterine leiomyosarcoma in contrast to leiomyoma. (8/809)Distinction of malignant uterine leiomyosarcomas from benign leiomyomas by morphological criteria is not always possible. Leiomyosarcomas typically have complex cytogenetic abnormalities; in contrast, leiomyomas have simple or no cytogenetic abnormalities. To understand better the biological distinction(s) between these tumors, we analyzed two other potential markers of genomic instability, loss of heterozygosity (LOH) and microsatellite instability. We examined archival materials from 16 leiomyosarcomas and 13 benign leiomyomas by polymerase chain reaction for 26 microsatellite polymorphisms. Markers were selected based on previous reports of cytogenetic or molecular genetic abnormalities in leiomyosarcomas or leiomyomas and surveyed chromosomes 7, 9, 10, 11, 12, 14, 15, 16, 18, 21, and X. LOH for markers on chromosomes 15, 18, 21, and X was infrequent in leiomyosarcomas (1 of 6 tumors for each chromosome) and not observed for markers on chromosomes 7, 9, 11, 12, 14, or 16. Interestingly, 8 of 14 (57.2%) informative leiomyosarcomas had LOH for at least one marker on chromosome 10 and involved both chromosomal arms in 45.5% (5 of 11). In contrast to leiomyosarcomas, LOH for chromosome 10 was not found in 13 benign leiomyomas. Microsatellite instability was found infrequently in leiomyosarcomas and not detected in leiomyoma. Clinicopathological features (eg, atypia, necrosis, and clinical outcome) did not appear to correlate with LOH for chromosome 10. In contrast to other chromosomes studied, LOH on chromosome 10 was frequent in leiomyosarcomas and absent in benign leiomyomas. (+info)
Computational and Statistical Genetics
In humans, we have 23 pairs of chromosomes. Another example is maize which is also a diploid with 10 pairs of chromosomes. ... For diploid organisms such as humans and maize, each organism has two copies of a chromosome - one each from the two parents. ... However, with current technology, it is difficult to separate the two chromosomes within a pair and the assays produce the ... Variations in human genome have been long known to make us susceptible to many diseases. We are hurtling towards the era of ...
On the positive strand of human chromosome ten, located next to the 5' end of ANKRD26 is MASTL, microtubule associated serine/ ... It has 6816 base pairs in the reference sequence mRNA transcript. LOC100289548 (PUTAETIVE UNCHARACTERIZED PROTEIN C10ORF52-LIKE ... 2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375-81. doi:10.1038/nature02462 ... In humans ANKRD26 was seen to be most highly expressed in the ear, lymph, esophagus, parathyroid, and placenta, as well as, ...
The gene product is a 6,657 base pair mRNA with 41 predicted exons in the human gene. Ensembl predicts ten alternative splice ... The predicted promoter region spans 1002 base pairs from 98,611,892 through 98,612,893 on the minus strand of chromosome 2. The ... The first spans 216 base pairs from 98,612,501 through 98,612,716. The second spans 182 base pairs from 98,612,262 through ... The human form has 1883 amino acid residues, with an isoelectric point of 8.74 and a molecular mass of 205,100 Daltons. It has ...
Human ARID5B genome location and ARID5B gene details page in the UCSC Genome Browser. Yuan YC, Whitson RH, Liu Q, Itakura K, ... The gene is located on the long arm of chromosome 10 (10q21.2) on the Watson (plus) strand. It spans 195,261 base pairs in ... AT-rich interactive domain-containing protein 5B is a protein that in humans is encoded by the ARID5B gene. Alternative names ... "Human PubMed Reference:". "Mouse PubMed Reference:". Lahoud MH, Ristevski S, Venter DJ, Jermiin LS, Bertoncello I, Zavarsek S, ...
... each human diploid cell (containing 23 pairs of chromosomes) has about 1.8 meters of DNA; wound on the histones, the dipliod ... This involves the wrapping of DNA around nucleosomes with approximately 50 base pairs of DNA separating each pair of ... is a transcription factor which activates histone gene transcription on chromosomes 1 and 6 of human cells. NPAT is also a ... of the human genome in five human cell lines". Genome Research. 17 (6): 691-707. doi:10.1101/gr.5704207. PMC 1891331 . PMID ...
... is located on human Chromosome 2, at 2q31.1. It contains 10 distinct exons. The gene itself is 28,930 base pairs long ... This variant is also shorter than the other two at 1,063 base pairs. The ERICH2 protein is 436 amino acids in length, and has a ... Glutamate Rich Protein 2 is a protein in humans encoded by the gene ERICH2. This protein is expressed heavily in male tissues ... The longest transcript variant is 1,388 base pairs in length, 1,311 of which are coding. The second variant differs from the ...
Paired immunoglobin like type 2 receptor alpha is a protein that in humans is encoded by the PILRA gene. Cell signaling ... These paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This ... "Human PubMed Reference:". "Mouse PubMed Reference:". "Entrez Gene: Paired immunoglobin like type 2 receptor alpha". Retrieved ... crystallization and preliminary X-ray diffraction analysis of human paired Ig-like type 2 receptor alpha (PILRalpha)". Acta ...
... of the human genome." They discovered that chromosome 19 has the highest gene density of any human chromosome, and were able to ... She and her team worked on sequencing and analyzing chromosomes 5, 16, and 19 -- "320 million base pairs . . . comprising more ... "GNN - Two More Human Chromosomes Are Complete". www.genomenewsnetwork.org. Retrieved 2017-03-02. Grimwood, Jane; Gordon, Laurie ... Grimwood was an important part of the Human Genome Project effort, working from the Stanford Human Genome Center. Grimwood ...
The human FABP1 gene is located on the short (p) arm of chromosome 2 from base pair 88,122,982 to base pair 88,128,131. FABP1 ... ten members of the FABP family have been identified on the human genome. Nine are well established (FABP1-9) with a recently ... FABP1 is a human gene coding for the protein product FABP1 (Fatty Acid-Binding Protein 1). It is also frequently known as liver ... Chan L, Wei CF, Li WH, Yang CY, Ratner P, Pownall H, Gotto AM, Smith LC (March 1985). "Human liver fatty acid binding protein ...
The cysteine pair (Cys28, Cys113) falls outside of the active site, and it is completely conserved in Grx2 proteins but not ... Glutaredoxin 2 (GLRX2) is an enzyme that in humans encoded by the GLRX2 gene. GLRX2, also known as GRX2, is a glutaredoxin ... and localized to chromosome 1q31.2-31.3. Alternative splicing of GLRX2 leads to three isoforms of Grx2. One isoform, Grx2a, ... Lönn ME, Hudemann C, Berndt C, Cherkasov V, Capani F, Holmgren A, Lillig CH (March 2008). "Expression pattern of human ...
The gene spans 142,366 base pairs and is located at the 10p12.2 locus on the minus (-) or sense strand of chromosome 10. It is ... "KIAA1217 KIAA1217 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. "C10orf67 chromosome 10 open reading frame 67 [ ... Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-04-30. "Homo sapiens chromosome 10 open reading ... Chromosome 10 open reading frame 67 (C10orf67), also known as C10orf115, LINC01552, and BA215C7.4, is an un-characterized human ...
In humans, it is encoded by the ALOX15 gene located on chromosome 17p13.3. This 11 kilobase pair gene consists of 14 exons and ... 1992) demonstrated that genes for 12-lipoxygenase and 15-lipoxygenase are located on human chromosome 17, whereas the most ... Consequently, human ALOX15 is now referred to as arachidonate-15-lipoxygenase-1, 15-lipoxygenase-1, 15-LOX-1, 15-LO-1, human 12 ... The distribution of Alox15 in sub-human primates and, in particular, rodents differs significantly from that of human ALOX15; ...
... has no human paralogs. Extensive orthologs were identified, however, using NCBI's BLAST and BLAT programs. A select ... The full gene spans 62,533 base pairs (bp). Eleven exons are transcribe in the protein-coding mRNA. There is a second, less ... January 2006). "A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease ... The translated NHLRC2 protein is 726 amino acids long in humans and has a molecular weight of 79,442.59 g/mol. It has been ...
"Expression of a human proprotein processing enzyme: correct cleavage of the von Willebrand factor precursor at a paired basic ... "Identification of a second human subtilisin-like protease gene in the fes/fps region of chromosome 15". DNA and Cell Biology. ... "cDNA and gene structure for a human subtilisin-like protease with cleavage specificity for paired basic amino acid residues". ... Furin is a protein that in humans is encoded by the FURIN gene. Some proteins are inactive when they are first synthesized, and ...
The mouse has approximately 2.7 billion base pairs and 20 chromosomes. They can also be manipulated in ways that are illegal ... Humans have eaten mice since prehistoric times and still eat them as a delicacy throughout eastern Zambia and northern Malawi, ... Mice are generally very docile if raised from birth and given sufficient human contact. However, certain strains have been ... Mice are no longer routinely consumed by humans elsewhere. However in Victorian Britain, fried mice were still given to ...
Human MGC50722 is located on the minus strand of chromosome 9 in the region q34 of the human genome (NCBI Gene ID: 399693). The ... The entire human gene is 40,364 base pairs in length, while the unprocessed mRNA is 25,960 base pairs long. After splicing of ... Nov 2013). "Proteogenomic Analysis of Human Chromosome 9-Encoded Genes from Human Samples and Lung Cancer Tissues". Journal of ... There are also 6 predicted isoforms found in human. PSORTII servers predict 5 nuclear localization signals in the human protein ...
In humans, FAM166B has 10 transcript variants, which are all spliced. FAM166B transcript variant 1 is 1,092 bp in length and ... The FAM166B gene is located on the short arm of chromosome 9 at 9p13.3 on the minus strand. The genomic sequence spans 2,069 ... base pairs from 35563899 to 35561830. Gene neighbors are RUSC2, RPS29P17, and TESK1. FAM166B is expressed 0.5 times higher than ... It is known to have a higher than normal proline composition compared to other human proteins at 12.4%. The protein has a ...
... a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3-related genes flanking the ... "Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers". Proceedings of the National ... Stromal antigen 3 is a protein that in humans is encoded by the STAG3 gene. STAG3 protein is a component of a cohesin complex ... STAG3 appears to participate in sister-chromatid cohesion throughout the meiotic process in human oocytes. A homozygous 1-bp ...
In humans, lactoferrin gene LTF is located on the third chromosome in the locus 3q21-q23. In oxen, the coding sequence consists ... insertions and mutations of stop codons affect the coding part and its length varies between 2,055 and 2,190 nucleotide pairs. ... Human colostrum ("first milk") has the highest concentration, followed by human milk, then cow milk (150 mg/L). Lactoferrin is ... lactoferrin shows potent activity against both human immunodeficiency virus and human cytomegalovirus replication in vitro". J ...
Katoh M (August 2002). "Molecular cloning and characterization of OSR1 on human chromosome 2p24". International Journal of ... "Molecular analysis of odd-skipped, a zinc finger encoding segmentation gene with a novel pair-rule expression pattern". The ... Protein odd-skipped-related 1 is a transcription factor that in humans is encoded by the OSR1 gene. The OSR1 and OSR2 ... A variant human OSR1 allele which does not produce a functional transcript and found in 6% of Caucasian populations, reduces ...
"An adjacent pair of human NUDT genes on chromosome X are preferentially expressed in testis and encode two new isoforms of ... 2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325-37. doi:10.1038/nature03440. PMC 2665286 . PMID ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... Diphosphoinositol polyphosphate phosphohydrolase 3-beta is an enzyme that in humans is encoded by the NUDT11 gene. NUDT11 ...
... gene structure predicts for an independently expressed member of an ITIM/ITAM pair of molecules localized to human chromosome ... CD300A protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) CD300a, Bernholtz - The Possible ... Alvarez Y, Tang X, Coligan JE, Borrego F (2007). "The CD300a (IRp60) inhibitory receptor is rapidly up-regulated on human ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
The human RAGE gene lies within the major histocompatibility complex (MHC) class III region on chromosome 6 and comprises 11 ... Total length of the gene is about 1400 base pairs (bp) including the promoter region, which partly overlaps with the PBX2 gene ... About 30 polymorphisms are known most of which are single nucleotide polymorphisms (SNP). The primary transcript of the human ... "Human PubMed Reference:". "Mouse PubMed Reference:". Neeper M, Schmidt AM, Brett J, Yan SD, Wang F, Pan YC, Elliston K, Stern D ...
In humans, the c10orf76 gene, also known by the alias FLJ13114, spans 210,577 base pairs on the reverse strand of the long arm ... "Human PubMed Reference:". "Mouse PubMed Reference:". "Entrez Gene: Chromosome 10 open reading frame 76 (Human)". Retrieved 28 ... There are ten conserved potential phosphorylation sites within the protein sequence. Also, there are nine residues that are ... The human c10orf76 locus is flanked on the left and right sides by HPS6 and KCNIP2, respectively. HPS6 is a protein that may ...
It is located on the human chromosome 4 at 4q35.1. The function of the protein encoded by this gene is not well understood, but ... The total span of the gene, including 5' and 3' UTR, is 3149 base pairs. The gene is flanked on the left by NUDT13 (nudix ... Overall in the human body, this gene is expressed at levels slightly below the average human gene expression level. The protein ... A Systematic Exploration of the Human Interactome. Cell, 162(2), 425-440. doi:10.1016/j.cell.2015.06.043 "ABHD8_HUMAN". UniProt ...
"TMPRSS2-ERG gene fusion causing ERG overexpression precedes chromosome copy number changes in prostate carcinomas and paired ... Teng DH, Chen Y, Lian L, Ha PC, Tavtigian SV, Wong AK (Jun 2001). "Mutation analyses of 268 candidate genes in human tumor cell ... Transmembrane protease, serine 2 is an enzyme that in humans is encoded by the TMPRSS2 gene. This gene encodes a protein that ... TMPRSS2-ERG fusion gene is the most frequent, present in 40% - 80% of prostate cancers in humans. ERG overexpression ...
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. ...
For instance, the DNA in the largest human chromosome, chromosome number 1, consists of approximately 220 million base pairs ... DNA evidence is being used to try to identify the Ten Lost Tribes of Israel. In a paper published in Nature in January 2013, ... Adenine pairs with thymine and guanine pairs with cytosine. It was represented by A-T base pairs and G-C base pairs. The ... The set of chromosomes in a cell makes up its genome; the human genome has approximately 3 billion base pairs of DNA arranged ...
Reaktivität: Human, Affe, Maus and more. 51 verschiedene PTCHD3 Antikörper vergleichen. Alle direkt auf antikörper-online bestellbar!
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.
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 (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
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) ...
Use Bio-Rads PrimePCR assays, controls, templates for your target gene. Every primer pair is optimized, experimentally validated, and performance guaranteed.
The study aim was to investigate the impacts of the expressions of tumor suppressor gene phosphatase and tensin homolog deleted on chromosome ten (PTE..
PLAU is a protease that converts plasminogen to plasmin. It appears to affect murine ageing: its overexpression in the brain diminishes food consumption and extends longevity probably through a mechanism similar to caloric restriction . It is unclear at present whether PLAU affects human ageing, despite some evidence linking PLAU to age-related neurological diseases . ...
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 ...
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 ...
Build: Wed Jun 21 18:33:50 EDT 2017 (commit: 4a3b2dc). National Center for Advancing Translational Sciences (NCATS), 6701 Democracy Boulevard, Bethesda MD 20892-4874 • 301-435-0888. ...
109733592(LOC109733592) 109734721(LOC109734721) 109735060(LOC109735060) 109735370(LOC109735370) 109736317(LOC109736317) 109738587(LOC109738587) 109739375(LOC109739375) 109739951(LOC109739951) 109752468(LOC109752468) 109753193(LOC109753193) 109754271(LOC109754271) 109758706(LOC109758706) 109759398(LOC109759398) 109762420(LOC109762420) 109762466(LOC109762466) 109763463(LOC109763463) 109764514(LOC109764514) 109765259(LOC109765259) 109765833(LOC109765833) 109771924(LOC109771924) 109773752(LOC109773752) 109774461(LOC109774461) 109774463(LOC109774463) 109775363(LOC109775363) 109775375(LOC109775375) 109775629(LOC109775629) 109775824(LOC109775824) 109784012(LOC109784012) 109785922 ...
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, ...
Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry - Full Text View - ClinicalTrials.gov
Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are inherited disorders characterized by progressive muscle weakness and loss of muscle tissue. The purpose of this registry is to connect people with DM or FSHD with researchers studying these diseases. The registry will offer individuals with DM and FSHD an opportunity to participate in research that focuses of their diseases. The registry will also help scientists to accomplish research on DM and FSHD and to distribute their findings to patients and care providers ...
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 ...
Cowden disease, also termed Cowden syndrome and multiple hamartoma syndrome, is an autosomal dominant condition with variable expression that can be associated with a mutation in the PTEN gene on arm 10q, as reported by Liaw et al. Originally described in 1963 by Lloyd and Dennis, Cowden disease (multiple hamartoma syndrome) was named after t...
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 ...
Methylation analysis of the phosphates and tensin homologue on chromosome 10 gene PTEN in multiple myeloma - pdf descargar
Methylation analysis of the phosphates and tensin homologue on chromosome 10 gene PTEN in multiple myeloma. . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis universitarias en PDF. Material universiario, documentación y tareas realizadas por universitarios en nuestra biblioteca. Para descargar gratis y para leer online.
... is a rare type of kidney cancer that develops in cells that are involved in the production of urine. Cancers form when a change (mutation) in DNA causes certain cells to grow out of control, sometimes forming a lump or a tumor. Some of these cancerous cells can break off and spread to other parts of the body where they will continue to grow (metastasis). Chromophobe renal cell carcinoma usually occurs in adults between the ages of 40 and 60, although it can appear in all age groups. This type of carcinoma is associated with Birt-Hogg-Dubé syndrome, an inherited disorder caused by a mutation in the FLCN gene. The FLCN gene is involved in regulating cell growth, and a mutation in this gene can cause cells to grow out of control. This situation places affected individuals at higher risk of developing chromophobe renal cell carcinoma as well as noncancerous growths in the kidneys, lungs, and hair follicles. Common symptoms include the presence of blood in the urine, ...
... is a rare type of kidney cancer that develops in cells that are involved in the production of urine. Cancers form when a change (mutation) in DNA causes certain cells to grow out of control, sometimes forming a lump or a tumor. Some of these cancerous cells can break off and spread to other parts of the body where they will continue to grow (metastasis). Chromophobe renal cell carcinoma usually occurs in adults between the ages of 40 and 60, although it can appear in all age groups. This type of carcinoma is associated with Birt-Hogg-Dubé syndrome, an inherited disorder caused by a mutation in the FLCN gene. The FLCN gene is involved in regulating cell growth, and a mutation in this gene can cause cells to grow out of control. This situation places affected individuals at higher risk of developing chromophobe renal cell carcinoma as well as noncancerous growths in the kidneys, lungs, and hair follicles. Common symptoms include the presence of blood in the urine, ...
TY - JOUR. T1 - Chromophobe renal cell carcinoma with sarcomatoid differentiation. AU - Lauer, Scott R.. AU - Zhou, Ming. AU - Master, Viraj A.. AU - Osunkoya, Adeboye O.. PY - 2013/4/1. Y1 - 2013/4/1. N2 - OBJECTIVE: To investigate the clinicopathologic features of chromophobe renal cell carcinoma with sarcomatoid differentiation. STUDY DESIGN: A search was made through the surgical pathology and expert consult files of two major academic institutions from 2003 to 2011 for cases of chromophobe renal cell carcinoma with sarcomatoid differentiation. RESULTS: Fourteen patients were identified. The patients included 9 males (64%) and 5 females (36%). The mean patient age was 60.4 years (range, 40-82 years). There was a left-sided predominance: left (9 patients) and right (5 patients). The mean tumor size was 14.6 cm (range, 9.5-28.0 cm), and the mean percentage sarcomatoid differentiation was 67% (range, 30-99%). All tumors exhibited moderate to extensive areas of necrosis. The nonsarcomatoid ...
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 ...
An NIH funded, Senatory Paul D. Wellstone Muscular Dystrophy Cooperative Research Center (MDCRC) has recently been established entitled Biomarkers for therapy of FSHD (facioscapulohumeral muscular dystrophy). This multi-institutional MDCRC will be directed by Charles Emerson, Ph.D. at Boston Biomedical Research Institute. The PI (in addition to having a project that is not being reviewed by the IRB at this time) is a co-director of the Centers Cell core. This core will be a national repository of muscle tissue, cells, and DNA for studies in FSHD.
The FSH Society Answers Questions About the New Gene for FSH Muscular... (Boston MA (PRWEB) January 24 2013 Fac...)
Health,Boston MA (PRWEB) January 24 2013 Facioscapulohumeral muscular dystrophy (FSHD) is a disease most people have never heard of even though it is one of the most common forms of muscular dystrophy. Having a name that is daunting to pronounce and spell doesnt help. But being an
A total of 83 prostate adenocarcinomas was evaluated for allelic loss on chromosome 10 by analysis of loss of polymorphic microsatellite repeats. Initially, 64 stage B carcinomas were analyzed at 12 loci on chromosome 10. Nine cases showed loss of chromosome 10 sequences, with a fractional allelic loss of 20%. These nine cases were then analyzed at an additional 19 loci to define better the regions of loss. Four areas of loss were identified, including 10p (2 of 64 cases), 10q23.1 (7 of 64 cases), 10q23.3 (4 of 64 cases), and 10q26 (2 of 64 cases). Three loci in these regions, D10S111, D10S185, and D10S192, were then analyzed in 19 advanced (stage C and D) carcinomas. Seven (37%) of 19 advanced carcinomas showed allelic loss at one or more of these loci. A statistically significant increase in the fractional allelic loss at both D10S111 (10p) and D10S185 (10q23.1) was observed. Thus, a complex pattern of loss is seen on chromosome 10 in prostate carcinoma, with regions of loss on 10p and 10q, ...
Datasets are collections of data. BioGPS has thousands of datasets available for browsing and which can be easily viewed in our interactive data chart. Learn more.. ...
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 ...
If you would like to schedule an appointment with one of our nationally ranked specialists or Primary Care physicians please click or call 800-881-7385.. ...
HER2/neu overexpression due to gene amplification is an important factor in breast cancer, modifying the sensitivity to anti-HER2 monoclonal antibody therapy. The clinical significance of HER2 expression in non small cell lung carcinoma (NSCLC) is currently under evaluation. The tumor suppressor gene PTEN negatively regulates the HER2/PI3K/Akt signalling pathway. The purpose of this study was to evaluate the role of simultaneous alteration in HER2 and PTEN protein expression in relation to biological behaviour of NSCLCs.. MATERIALS AND METHOD:. Protein expression was determined by immunohistochemistry in 82 NSCLC cases along with CISH for HER2 gene analysis and detection of chromosome 17 aneuploidy. Patients were followed-up for a period of 34 to 41 months after surgery.. RESULTS:. HER2 overexpression (2+/3+ score) was detected in 23 (27.9%) patients while loss of PTEN expression was observed in 32 (39.3%) cases, low expression in 39 (47.6%) and overexpression in 11(13.1%). Simultaneous HER2 ...
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.. ...
Cowden disease (CD), also termed Cowden syndrome and multiple hamartoma syndrome, is an autosomal dominant condition with variable expression that results from a mutation in the PTEN gene on chromosome arm 10q, as reported by Liaw et al. CD causes hamartomatous neoplasms of the skin and mucosa, GI tract, bones, central nervous system (CNS), eyes, and genitourinary tract. Skin is involved in 90-100% of cases; the thyroid in 66%.
Brian I. Rini, MD, presents a case study focused on the treatment of a 64 year-old male who presented with recurrent lung nodules 9 years after a left radical nephrectomy for a clear-cell renal ...
Summary: DUX4 underlies pathogenesis in facioscapulohumeral muscular dystrophy. DUX4 acts mainly as a transcriptional activator that inhibits myogenesis by orchestrating a gene expression profile representative of a more stem-cell-like state. ...
Nuramina gerklę ir bronchus (kvėpavimo takus, kurie perneša orą iš plaučių ir į plaučius). Padeda išstumti gleives. Laikoma atpalaiduojančia refleksine, atsikosėjimą lengvinančia priemone, kas reiškia, kad ji padeda sušvelninti kraujo priplūdimą, sumažindama gleivėtų išskyrų (skreplių) klampą, todėl jos lengviau išstumiamos.. ...
Linkage of Genetic Markers on Human Chromosomes 20 and 12 to NIDDM in Caucasian Sib Pairs With a History of Diabetic...
Linkage of Genetic Markers on Human Chromosomes 20 and 12 to NIDDM in Caucasian Sib Pairs With a History of Diabetic ... Linkage of Genetic Markers on Human Chromosomes 20 and 12 to NIDDM in Caucasian Sib Pairs With a History of Diabetic ... Linkage of Genetic Markers on Human Chromosomes 20 and 12 to NIDDM in Caucasian Sib Pairs With a History of Diabetic ... Linkage of Genetic Markers on Human Chromosomes 20 and 12 to NIDDM in Caucasian Sib Pairs With a History of Diabetic ...http://diabetes.diabetesjournals.org/content/46/5/882
Chromosomes | Encyclopedia.com
Chromosome A chromosome is a structure that occurs within cells and that contains the cells genetic material. That genetic ... With 46 chromosomes, humans fall well within this average.. The 46 human chromosomes are arranged in 23 pairs. One pair of the ... Finally, a chromatid with ten or more coils is formed. Nonhistone proteins within chromosomes are also important. These ... chromosomes align in pairs. In a normal human karyotype, there are 22 pairs of autosomal chromosomes and two sex chromosomes (X ...https://www.encyclopedia.com/science-and-technology/biology-and-genetics/genetics-and-genetic-engineering/chromosomes
Human chromosome 16, SEM - Stock Image C009/5639 - Science Photo Library
Humans have 23 pairs of chromosomes. This is chromosome 16, which carries between 850 and 1200 genes. Gene defects on this ... Each chromosome consists of two identical, parallel strands (chromatids, left and right), joined at an area called a centromere ... Chromosomes are a packaged form of the genetic material DNA (deoxyribonucleic acid), and form during cell replication. ... chromosome are related to diseases such as Crohns disease and thalassaemia, and may also contribute to obesity. Magnification ...http://www.sciencephoto.com/media/158251/view
Male Human Sex Chromosomes X and Y SEM - Stock Image - C013/5127 - Science Photo Library
Pair 23), scanning electron micrograph (SEM). There are 23 pairs of chromosomes in most normal human cells. ... Male Human Sex Chromosomes X and Y (Pair 23), scanning electron micrograph (SEM). There are 23 pairs of chromosomes in most ... normal human cells. These are allocated pairs 1 - 22 with pair 23 being the sex chromosomes, either xx for females and xy for ... Male Human Sex Chromosomes X and Y ( ... Male Human Sex Chromosomes X and Y SEM. C013/5127. Rights ...https://www.sciencephoto.com/media/466076/view/male-human-sex-chromosomes-x-and-y-sem
Computational and Statistical Genetics - Wikipedia
In humans, we have 23 pairs of chromosomes. Another example is maize which is also a diploid with 10 pairs of chromosomes. ... For diploid organisms such as humans and maize, each organism has two copies of a chromosome - one each from the two parents. ... However, with current technology, it is difficult to separate the two chromosomes within a pair and the assays produce the ... Variations in human genome have been long known to make us susceptible to many diseases. We are hurtling towards the era of ...https://en.wikipedia.org/wiki/Computational_and_Statistical_Genetics
Chromosome 10 (human) - Wikipedia
The following is a partial list of genes on human chromosome 10. For complete list, see the link in the infobox on the right. ... The following are some of the gene count estimates of human chromosome 10. Because researchers use different approaches to ... Deloukas P, French L, Meitinger T, Moschonas NK (2000). "Report of the third international workshop on human chromosome 10 ... People normally have two copies of this chromosome. Chromosome 10 spans about 133 million base pairs (the building material of ...https://en.wikipedia.org/wiki/Chromosome_10_(human)
Analysis of losses of heterozygosity of the candidate tumour suppressor gene DMBT1 in melanoma resection specimens.
... has recently been identified and found to be deleted in several different types of human tumours. In melanomas, the chromosomal ... a candidate tumour suppressor gene located on chromosome 10q25.3-q26.1, ... Chromosomes, Human, Pair 10*. DNA Primers. Genes, Tumor Suppressor*. Humans. Loss of Heterozygosity*. Melanocytes / metabolism ... Previous Document: Increased expression of dipeptidyl peptidase IV in human mesothelial cells by malignant ascites from.... ...http://www.biomedsearch.com/nih/Analysis-losses-heterozygosity-candidate-tumour/12239452.html
10 Lecture Animation Ppt
4. 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 ,/ ...https://www.slideshare.net/guest2b59ac0/10-lecture-animation-ppt-2570222
10 Weird Genetic Facts - Listverse
Humans have 23 pairs of chromosomes, and chimpanzees have 24 pairs. If humans are related to chimps, how can we account for ... When we look at human chromosome 2 it looks very similar to two shorter chimp chromosomes. Chromosome 2 even has two sets of ... and the swapping occurs between the wrong pairs of chromosomes. This can cause diseases and sometimes fuses whole chromosomes. ... This is the swapping of similar areas between pairs of chromosomes. This serves an evolutionary purpose in that it mixes up DNA ...https://listverse.com/2013/08/04/10-weird-genetic-facts/?utm_source=more&utm_medium=link&utm_campaign=direct
Double trans-chromosomic mice: Maintenance of two individual human chromosome fragments containing Ig heavy and κ loci and...
The AKT1 primer pair was 5′-ACGGGCACATTAAGATCACA-3′, 5′-TGCCGCAAAAGGTCTTCATG-3′. ... human chromosome fragment;. KO mouse,. knockout mouse;. HSA,. human serum albumin;. hu-mAbs,. human monoclonal antibodies;. ES ... In addition, hybridomas producing human IgG/κ antibodies against human proteins other than HSA, human tumor necrosis factor α ( ... They mounted an antigen-specific human antibody response upon immunization with human serum albumin, and human serum albumin- ...https://www.pnas.org/content/97/2/722?ijkey=d7efb5ab27cabadc306e7d4c5efa437b6d34499f&keytype2=tf_ipsecsha
DNA AND PROTEIN
Inside each cell are tens of thousands of such genes, grouped into 23 pairs of chromosomes. ... WHY ONLY THE L FORM You might wonder why the D form of protein would not work equally well in humans and animals. The problem ... Ten multiplied by itself 600 times gives the figure 1 followed by 600 zeros! This number is completely beyond our comprehension ... Inside the chromosomes are genes. The genes are attached to chromosomes like beads on a chain. Inside the genes is the ...http://www.jesus-is-savior.com/Evolution%20Hoax/Evolution/08.htm
IJMS | Free Full-Text | Hyaluronan and Fibrin Biomaterial as Scaffolds for Neuronal Differentiation of Adult Stem Cells...
The normal human karyotype contains 22 pairs of autosomal chromosomes and one pair of sex chromosomes. Normal karyotypes for ... The chromosomes are depicted (by rearranging a microphotograph) in a standard format known as a karyogram: in pairs, ordered by ... Chromosome Stability. Chromosome stability of cell cultures has been detected by means of the karyotipe analyses. The karyotype ... Characterization of human adult stem-cell populations isolated from visceral and subcutaneous adipose tissue. FASEB J 2009, 23 ...http://www.mdpi.com/1422-0067/12/10/6749/htm
Evolution and the Bible | Xenos Christian Fellowship
In humans, there are a total of 46 chromosomes, half of which come from each parent. Chromosomes come in pairs. We have 23. 22 ... The human genome has around 3 billion base pairs.. Chromosome: A strand of DNA contained within a cell. Each chromosome ... Base "A" always pairs with "T," and "G" always pairs with "C." Base pairs are also used as a unit of measure to indicate a ... Human evolution (that humans are descended from non-human animals by an evolutionary process of mutation and natural selection ...https://www.xenos.org/node/2930
Patent US5985549 - Non-isotopic in-situ hybridization method for detection of nucleic acids - Google Patents
... or whether the nucleic acid sequence of interest is localized in the chromosomes, nucleus, or cytoplasm of a cell. The methods ... Genes on homologous chromosomes are not closely paired. Because the neu oncogene is more centrally localized at interphase than ... virus in infected human lymphocytes and empirically detected the presence of human muscular dystrophy DNA in human cells taken ... Slides stored in 70% alcohol are rehydrated in a ten minute PBS, 5 mM MgCl bath then ten minutes in 0.1 M Tris--0.2 M glycine, ...http://www.google.com/patents/US5985549?dq=5,072,412
Histone - Wikipedia
... each human diploid cell (containing 23 pairs of chromosomes) has about 1.8 meters of DNA; wound on the histones, the diploid ... This involves the wrapping of DNA around nucleosomes with approximately 50 base pairs of DNA separating each pair of ... of the human genome in five human cell lines". Genome Research. 17 (6): 691-707. doi:10.1101/gr.5704207. PMC 1891331. PMID ... is a transcription factor which activates histone gene transcription on chromosomes 1 and 6 of human cells. NPAT is also a ...https://en.wikipedia.org/wiki/Histone_modification
amniocentesis facts, information, pictures | Encyclopedia.com articles about amniocentesis
Normal human cells contain 23 chromosome pairs-one in each pair inherited from the mother, and one from the father. Every human ... Humans have 46 chromosomes arranged into 23 pairs. Chromosomes contain the genetic information necessary to direct the ... Chromosome- Chromosomes are the strands of genetic material in a cell that occur in nearly identical pairs. ... Chromosome -A microscopic thread-like structure found within each cell of the human body and consisting of a complex of ...http://encyclopedia.com/medicine/divisions-diagnostics-and-procedures/medicine/amniocentesis
Fragile X Syndrome | Encyclopedia.com
Humans have 46 chromosomes arranged into 23 pairs. Changes in either the total number of chromosomes or their shape and size ( ... Since the discovery of FMR1 and the expanding CGG repeats, scientists have identified more than ten other human genetic ... Humans have 46 chromosomes arranged into 23 pairs. Chromosomes contain the genetic information necessary to direct the ... The first 22 pairs of chromosomes are the same in males and females. The remaining two chromosomes are called the sex ...https://www.encyclopedia.com/medicine/diseases-and-conditions/pathology/fragile-x-syndrome
Y chromosome - Wikipedia
Human Y chromosome. In humans, the Y chromosome spans about 58 million base pairs (the building blocks of DNA) and ... 2004). "In the platypus a meiotic chain of ten sex chromosomes shares genes with the bird Z and mammal X chromosomes". Nature. ... Stevens proposed that chromosomes always existed in pairs and that the Y chromosome was the pair of the X chromosome discovered ... Human Y-chromosome DNA haplogroup. The human Y chromosome is normally unable to recombine with the X chromosome, except for ...https://en.wikipedia.org/wiki/Y_chromosome
Chapter 8 DNA AND PROTEIN
Inside each cell are tens of thousands of such genes, grouped into 23 pairs of chromosomes. ... Just for a moment, let us look beyond DNA and protein to a few of the more complicated organs in the human body. As we do so, ... the requirements which randomness would have to hurdle become truly fabulous. Consider the human brain, with its ten billion ... Inside the chromosomes are genes. The genes are attached to chromosomes like beads on a chain. Inside the genes is the ...http://www.godrules.net/evolutioncruncher/c08.htm
CNN.com - The code of life - Apr 17, 2006
Human beings normally have 46 chromosomes in 23 matching pairs. We inherit half of our chromosomes from our mothers, half from ... The ten year race to sequence the genome presented researchers with grand new challenges. ... Sequencing the human genome meant sifting through the three billion pairs of molecule pairs that make up our chromosomes to ... Along each chromosome chain, the adenine, thymine, cytosine, and guanine molecules are paired off, and unevenly arranged into ...http://edition.cnn.com/2006/TECH/science/04/10/genetics.profile/
Dog vs Human Anatomy | Visual.ly
Human and Dog Anatomy is, unsurprisingly, quite different… although there are similarities. In the third in our summer ... 23 pairs) (39 pairs). human dog. Chromosome number. On dogs, raw food takes 4-6. hours to digest, while dry. food takes 10-12 ... Dog vs Human Anatomy. Dog vs Human Anatomy Facts. The human-dog relationship amounts to a very long lasting symbiosis. Dogs ... Human pregnancy lasts. cca 266 days.. "Humans domesticated dogs,. and dogs domesticated humans." ...https://visual.ly/community/infographic/animals/dog-vs-human-anatomy
Chapter 2 Structure of Chromosomes - Frank Modern Certificate Solutions for Class 10 Biology ICSE - TopperLearning
2 Structure of Chromosomes. All the solutions of Structure of Chromosomes - Biology explained in detail by experts to help ... Frank Modern Certificate Solutions for Class 10 Biology ICSE, ... The chromosomes other than sex chromosomes present in the human ... In man, there is a pair of sex chromosomes. In males, it is X and Y while in female, the sex chromosomes are X and X which are ... ix) Telocentric chromosomes are. (a) I shaped (b) V shaped (c) J shaped (d) L shaped. (x) A V shaped chromosomes has to. (a) ...https://www.topperlearning.com/frank-solutions/icse-class-10-biology/frank-certificate-biology-part-ii/structure-of-chromosomes
humans, too, have their share of oddly paired chromosomes. experts estimate that about 10 to 30 percent of human eggs or fusion ... METHODS: Ten patients were studied with chronic fat malabsorption, calcium oxalate stones, and hyperoxaluria thought to be ... Human sIgA was found to facilitate biofilm formation by normal human gut flora and by Escherichia coli on cultured human ... To prove that the model correlates with human infections, Rosen led an analysis of human urine samples sent from a clinic at ...http://members.tripod.com/mueller_ranges/links/compendium/biofilms.html
Effective chromosome pairing requires chromatin remodeling at the onset of meiosis | PNAS
... preventing nonhomologous synapsis of chromosomes, but also has effects at replication (7, 25). Overexpression of Cdk2 in humans ... and the chromosomes can pair. In a wheat-rye hybrid carrying seven rye chromosomes (d), the rye heterochromatin does not ... the translocated chromosome behaves like the rest of the wheat chromosomes. In fact, initially this regular pairing led some ... Effective chromosome pairing requires chromatin remodeling at the onset of meiosis. Isabelle Colas, Peter Shaw, Pilar Prieto, ...https://www.pnas.org/content/105/16/6075
MGD S10 - Chromosomal abnormalities Flashcards by | Brainscape
From Largest (chromosome pair 1) to smallest (chromosome pair 22). 23rd pair is the sex chromosomes ... Only one X chromosome is ever active in a human cell. The others are inactivated and form condensed structures around the ... Loss of one chromosome i.e. One chromosome pair exists as a single chromosome ... Region of chromosome deleted is internal to chromosome. Terminal - Region of chromosome deleted at the end of a chromosome ...https://www.brainscape.com/flashcards/mgd-s10-chromosomal-abnormalities-1669207/packs/2668708
GeneticsRecombinationNucleusLociDiploidChimpanzeesKilobaseProteinsScanning electron m2000Found on chromosomeMammalsEntire human genomeMeiosisMoleculeRegion of chromosomeGenetic LinkageArtificial chromosomesCarriesChromatinProtein20,000 genesMalesMutationsMitosisAneuploidyMaizeEukaryoticInactivationHaploidSNPsEvolutionaryLoss of HeterozygosGenomesHistoneSynapsisDetermines sexCytosinePolymorphismCell's1,200VertebratesStrandLineageMagnificationChromosomalEukaryotes1993GenomicGenes involved1990
- Elaine Ostrander, chief of cancer genetics at the National Human Genome Research Institute, said dog genetics could help narrow down the search for human disease genes. (redorbit.com)
- The complex genetics of VWD involve a gene found on chromosome 12. (healthofchildren.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)
- It seems that there is no escape from mutation rate controversies in human genetics. (blogspot.com)
- American Journal of Human Genetics 64: 1177-1185. (els.net)
- American Journal of Human Genetics 44: 543-551. (els.net)
- American Journal of Human Genetics 46: 229-241. (els.net)
- American Journal of Human Genetics 52: 502-516. (els.net)
- Annals of Human Genetics 42: 87-94. (els.net)
- American Journal of Human Genetics 47: A204. (els.net)
- American Journal of Human Genetics 57: 1221-1232. (els.net)
- Human Genetics 109: 675-677. (els.net)
- Consistent with this observation, the subtelomeric regions have been shown to be important for pairing and recombination in wheat ( 10 ). (pnas.org)
- However, neither these studies nor any other investigations of meiosis reveal whether chromatin remodeling is essential for chromosome pairing and recombination. (pnas.org)
- New findings by University of California, Berkeley, scientists show that the cell's cytoskeleton, which moves things around in the cell, plays a critical role, essentially reaching into the nucleus to bring chromosome pairs together in preparation for recombination and segregation. (healthcanal.com)
- In organisms such as viruses and eukaryotes in which recombination within chromosomes or genome segments occurs primarily via crossovers, these recombination fractions vary hugely among different pairs of loci. (genetics.org)
- Less is known about viral recombination rates, but Neher and Leitner (2010) estimate that in human immunodeficiency virus (HIV) recombination rates among loci vary by a factor of ∼10 3 over the genome. (genetics.org)
- Comparative analysis between humans and chimpanzees suggests ongoing recombination between the gene duplicate pairs that reside on the same Y chromosome. (genetics.org)
- Considering both gene conversion and crossing over on the Y, recombination can be viewed as a factor that either constrains (via gene conversion) or promotes (via crossing over) Y chromosome degeneration. (genetics.org)
- Finally, in a process called recombination, genes get shuffled as the paired chromosomes break at a random spot along their arms and switch pieces. (berkeley.edu)
- After pairing, zipping (called synapsis) and recombination, the chromosome pairs are pulled apart, then the duplicated chromosomes are separated, and the cell splits into four gametes, each with only half the standard number of chromosomes. (berkeley.edu)
- In prokaryotes, or cells without a nucleus, the chromosome is merely a circle of DNA. (encyclopedia.com)
- In eukaryotes, or cells with a distinct nucleus, chromosomes are much more complex in structure. (encyclopedia.com)
- Inside that nucleus are, among other complicated things, chromosomes. (jesus-is-savior.com)
- At the start of meiosis, each chromosome must recognize its homologue from among all of the chromosomes present in the nucleus. (pnas.org)
- The patches form a bridge between the chromosomes and the cytoskeleton outside the nucleus. (healthcanal.com)
- A nucleus contains your genetic material and is arranged into chromosomes. (getrevising.co.uk)
- The human cell nucleus contains 23 pairs of chromosomes. (getrevising.co.uk)
- The three-dimensional organization of chromosomes in the human interphase nucleus is relevant for gene regulation, yet it is far from being fully understood. (biomedcentral.com)
- This gene, isolated from corn, allows chromosomes floating around in a cell's nucleus to recognize and pair with their homologs in preparation for the later steps that lead to cell division. (berkeley.edu)
- Evidence for linkage to NIDDM was found with polymorphic loci that map to the long arms of human chromosomes 20 and 12 in regions containing the MODY1 and MODY3 genes. (diabetesjournals.org)
- A maximum LOD score of 1.48 was calculated for linkage to MODYl-linked loci and 1.45 to MODY3-linked loci in Caucasian sib pairs. (diabetesjournals.org)
- This also facilitates the generation of mice with "humanized" loci whose endogenous loci are functionally substituted for intact human equivalents in combination with targeted inactivation of endogenous loci, thereby providing valuable experimental animals for gaining insight into in vivo functions of human genes and for studying human genetic disorders ( 2 , 3 ). (pnas.org)
- Particularly, much effort has been made by a number of groups to create mice with humanized Ig ( Ig ) loci for obtaining therapeutic human mAbs (hu-mAbs) monoclonal antibodies ( 4 , 5 ). (pnas.org)
- Their studies established that transgenic mice carrying a portion of human IgH (14q32.33, ≈1.5 Mb) and Igκ (2q12, ≈2 Mb) loci in the endogenous Ig -knockout (KO) background were successfully used for the production of antigen-specific fully human antibodies. (pnas.org)
- Although the introduction of entire human Ig loci into mice to reconstitute full diverse human antibody repertoires has been a next major challenge, this has never been achieved because the cloning of over megabase-sized DNA fragments encompassing whole human Ig loci remains difficult even with the use of yeast artificial chromosomes ( 1 , 5 ). (pnas.org)
- Blackwelder WC and Elston RC (1985) A comparison of sib‐pair linkage tests for disease susceptibility loci. (els.net)
- Another example is maize which is also a diploid with 10 pairs of chromosomes. (wikipedia.org)
- For diploid organisms such as humans and maize, each organism has two copies of a chromosome - one each from the two parents. (wikipedia.org)
- When the diploid cells are duplicated and condensed during mitosis , the result is about 120 micrometers of chromosomes . (wikipedia.org)
- Normal human diploid cells placed in culture have a finite proliferative life-span and enter a nondividing state termed senescence, which is characterized by altered gene expression ( 1 , 2 ). (sciencemag.org)
- We recently demonstrated that telomerase activity can be reconstituted by transient expression of hTRT in normal human diploid cells, which express low levels of the template RNA component of telomerase (hTR) but do not express hTRT ( 18 ). (sciencemag.org)
- Like a human being, Cannabis is a diploid organism: its chromosomes come in pairs. (herb.com)
- Several groups have announced efforts to extend this to diploid human genomes including the International HapMap Project , Applied Biosystems , Perlegen, Illumina , JCVI , Personal Genome Project , and Roche-454 . (thefullwiki.org)
- With a 30% difference between humans and chimpanzees, the Y chromosome is one of the fastest-evolving parts of the human genome . (wikipedia.org)
- They also compared the dog genome to the already-completed maps of human genes, mice, rats and chimpanzees. (redorbit.com)
- Biologist David Page's group from Boston keenly defend the honour of the human Y, noting that although chimpanzees have lost a few genes since we shared a common ancestor 5 million years ago, humans haven't. (theconversation.com)
- 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)
- 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)
- 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)
- 1.Humans have 23 pairs of chromosomes while chimpanzees have 24. (sciforums.com)
- Chimpanzees and other apes have about 23 kilobases (a kilobase is 1,000 base pairs of DNA) of repeats. (sciforums.com)
- Plasmids that have been turned into vectors can hold about 10,000 nucleotide base pairs (bp) or 10 kilobase pairs (kb). (ubc.ca)
- Telomerase is active in germline cells and, in humans, telomeres in these cells are maintained at about 15 kilobase pairs (kbp). (sciencemag.org)
- It is composed of four exons and three introns and is approximately 10 kilobase pairs in size. (jimmunol.org)
- Today we know that a chromosome contains a single molecule of DNA along with several kinds of proteins. (encyclopedia.com)
- Proteins are coded for in DNA in sections of three base pairs in length (codons). (listverse.com)
- During mitosis and meiosis, the condensed chromosomes are assembled through interactions between nucleosomes and other regulatory proteins. (wikipedia.org)
- These chromosomes consist of genetic material (DNA) needed for the production of proteins, which lead to growth, development, and physical/intellectual characteristics. (encyclopedia.com)
- Chromosome motion can be directly observed by microscopic imaging of worms expressing fluorescent fusion proteins. (healthcanal.com)
- In early meiosis, the chromosomes attach by their pairing centers to proteins on the nuclear envelope, which are linked to the cytoskeleton of the cell. (healthcanal.com)
- Proteins attach themselves to these stretches and coil them so that they form chromosomes. (differencebetween.net)
- A chromosome is simply the product of the DNA and the proteins that are attached to it. (differencebetween.net)
- DNA is the smallest part that, together with proteins, forms a chromosome. (differencebetween.net)
- 3. When proteins add to DNA, a chromosome is formed. (differencebetween.net)
- Several protein-coding genes, including those that encode chemokines, cadherins, excision repair proteins, early growth response factors (Egrs) and fibroblast growth receptors (FGFRs), are located on chromosome 10. (fishersci.com)
- Each chromosome carries thousands of genes that act as instructions for the manufacture of proteins controlling everything that occurs in the body. (bio-medicine.org)
- The PAR shrinkage makes the production of offspring without an X or Y from the father more likely, the new paper said.In addition, there are some species where there is no pseudoautosomal region and special proteins shepherd the X and Y chromosome on their way to the sperm cells. (medindia.net)
- In addition, there are some species where there is no pseudoautosomal region and special proteins shepherd the X and Y chromosome on their way to the sperm cells. (uta.edu)
- This gene is one of several genes encoding pulmonary-surfactant associated proteins (SFTPA) located on chromosome 10. (bio-rad.com)
- The Y chromosome is one of two sex chromosomes ( allosomes ) in mammals , including humans , and many other animals. (wikipedia.org)
- In mammals, the Y chromosome contains the gene SRY , which triggers testis development. (wikipedia.org)
- Most mammals have only one pair of sex chromosomes in each cell. (wikipedia.org)
- In mammals, the Y chromosome contains a gene, SRY , which triggers embryonic development as a male. (wikipedia.org)
- The Y chromosomes of humans and other mammals also contain other genes needed for normal sperm production. (wikipedia.org)
- Subject of Thesis: Alterations in Chromosomal Structure and Genic Activity in the Inactive X chromosome in Female Mammals. (tau.ac.il)
- This is exactly what has been observed across humans and other mammals. (eurekalert.org)
- We found they are still ordinary chromosomes even in monotreme mammals (platypuses and echidnas) which last shared a common ancestor with humans 166 million years ago. (theconversation.com)
- Heath Blackmon, a Ph.D. student at The University of Texas at Arlington, said most previous research into sex chromosomes has occurred either in mammals or the fruit fly. (medindia.net)
- However, given that whales and humans are mammals, they would be expected to share many similarities. (answers.com)
- The human genome contains about 3 billion nucleotides, about the same number of nucleotides as mice, apes and most other mammals. (epicofevolution.com)
- Using plasmid vectors, more than 1.8 billion clones are required to examine an entire human genome. (ubc.ca)
- Thousands of genes make up a chromosome and 46 of them, arranged in 23 pairs, define the entire human genome. (bellaonline.com)
- According to the National Institute of Health, a genome-wide association study is defined as any study of genetic variation across the entire human genome that is designed to identify genetic associations with observable traits (such as blood pressure or weight), or the presence or absence of a disease or condition. (barnesandnoble.com)
- Studies exploiting species with large chromosomes reveal that chromatin is remodeled at the onset of meiosis before this intimate association. (pnas.org)
- Thus, chromatin remodeling at the onset of meiosis enables the chromosomes to become competent to pair and recombine efficiently. (pnas.org)
- Meiotic studies of species with large chromosomes reveal that chromosomes undergo extensive chromatin remodeling at the onset of meiosis ( 2 , 3 ). (pnas.org)
- On entry into meiosis just before chromosome pairing, the subtelomeric heterochromatin knobs visualized on Lilium, rye, and maize chromosomes "disappear" as a result of these conformational changes ( 3 ⇓ ⇓ - 6 ). (pnas.org)
- Recently, cell biological investigations have revealed that one of the effects of a major chromosome pairing locus ( Ph1 ) on chromosome 5B in wheat is to control chromatin remodeling at the onset of meiosis. (pnas.org)
- The Ph1 locus ensures that only true homologues pair at meiosis from among the six related chromosomes ( 11 ). (pnas.org)
- At the onset of meiosis, homologues undergo synchronized chromatin remodeling in the presence of Ph1 , when the telomeres cluster as a bouquet and engage in intimate pairing ( 7 ). (pnas.org)
- In fact, the cytoskeleton appears to encourage the dance of the chromosomes around the nuclear membrane as they search for their partners, and help make sure they have the right partner before meiosis continues. (healthcanal.com)
- Errors during meiosis lead to age-related human infertility, and to birth defects such as Down syndrome and Klinefelter syndrome," said Abby Dernburg, UC Berkeley associate professor of molecular and cell biology and a Howard Hughes Medical Institute investigator. (healthcanal.com)
- The biologists' idea is that the fate of the Y chromosome is heavily influenced by how meiosis, or the production of sperm, works in an organism. (medindia.net)
- Meiosis in corn has many similarities to the process in yeast, fruit flies, mice and humans, making this finding an important step in understanding meiosis in many organisms. (berkeley.edu)
- Understanding chromosome pairing in plants will eventually lead to understanding the same process in humans, which will help in elucidating the causes of infertility and genetic diseases that result from abnormalities of meiosis, such as Down Syndrome," said principal author Wojtek P. Pawlowski, a postdoctoral fellow at UC Berkeley. (berkeley.edu)
- In meiosis, however, these duplicated chromosomes don't split apart, but instead seek out and pair with their homologs, creating a structure consisting of four DNA double helices aligned side by side. (berkeley.edu)
- During meiosis, each chromosome from one parent must find its equivalent, or homolog, that comes from the other parent and must physically pair with it. (berkeley.edu)
- A single molecule of DNA within a chromosome may be as long as 8.5 centimeters (3.3 inches). (encyclopedia.com)
- To fit within a chromosome, the DNA molecule has to be twisted and folded into a very complex shape. (encyclopedia.com)
- Sequencing the human genome meant sifting through the three billion pairs of molecule pairs that make up our chromosomes to find the genes themselves. (cnn.com)
- Terminus, telomere Centromere Chromatid DNA packaging A chromosome contains a single, uninterrupted DNA molecule. (coursehero.com)
- DNA molecule of human chromosome 1 is therefore 8.5 cm long. (coursehero.com)
- This molecule is packaged in chromosome that is about 10 μ m long. (coursehero.com)
- A chromosome is one very long molecule of DNA. (getrevising.co.uk)
- The bacterial chromosome is a circular molecule of DNA that functions as a self-replicating genetic element (replicon). (nih.gov)
- In this activity, we ignore the 23 chromosomes, and pretend the DNA is a single, 2 meter (6 foot) long molecule. (epicofevolution.com)
- The third was a region of chromosome 20 - 10 million base-pairs - that is known to be associated with diabetes and obesity. (innovations-report.com)
- These findings provide little additional evidence for a susceptibility locus for panic disorder either within the CREM gene or in a nearby region of chromosome 10p11 in our sample. (elsevier.com)
- This is chromosome 16, which carries between 850 and 1200 genes. (sciencephoto.com)
- When a man carries a premutation on his X chromosome, it tends to be stable and usually will not expand if he passes it on to his daughters (he passes his Y chromosome to his sons). (encyclopedia.com)
- The homologues are then segregated so that each gamete carries only a single copy of each chromosome. (pnas.org)
- One pair of chromosomes carries the primary genes that determine sex. (herb.com)
- hance, male and female progeny appear in equal numbers (in humans, the sperm carries either an X or a Y chromosome. (herb.com)
- Human sperm bearing either an X or a Y chromosome stream toward a human egg, which carries an X chromosome. (eurekalert.org)
- While eggs always carry an X chromosome, only about half of all sperm carry an X chromosome, while the other half carry a Y. Fusion of sperm and egg typically results in a female, when the fertilizing sperm carries an X chromosome, (producing an XX offspring) or a male, should the sperm carry a Y chromosome, (producing an XY offspring). (eurekalert.org)
- Previous work has attributed Y chromosome loss to the lesser importance of genes it carries. (medindia.net)
- Ankyrin repeat domain-containing protein 26 is a protein that in humans is encoded by the ANKRD26 gene. (wikipedia.org)
- According to UCSC Genome Browser on Human Feb. 2009 assembly (GRCh37/hg19), genes flanking CXCL12 on 10q11.21, in centromere to telomere direction, are ZNF32 (zinc finger protein 32), HNRNPA3P1 (heterogeneous nuclear ribonucleoprotein A3 pseudogene 1), CXCL12, THEM72 (transmembrane protein 72), RASSF4 (Ras association (RalGDS/AF-6) domain family member 4). (atlasgeneticsoncology.org)
- Here, chromosome attachment sites at the nuclear envelope are marked by green fluorescent protein (GFP), while the chromosomes themselves are labeled with a red fluorescent protein. (healthcanal.com)
- Once the chromosomes come together, a protein called dynein assesses whether or not the chromosomes are homologous and, if yes, allows formation of a zipper-like synptonemal complex between the two. (healthcanal.com)
- To stabilize the chromosome pairs, protein links form along the length of the homologs, like a zipper. (healthcanal.com)
- 10 -5 ) modulated the expression of ribosomal protein RPL9, transcription factor ZSCAN9 and aminopeptidase ERAP2. (frontiersin.org)
- After pairing, protein machines move in to zip them together. (berkeley.edu)
- These are allocated pairs 1 - 22 with pair 23 being the sex chromosomes, either xx for females and xy for males. (sciencephoto.com)
- The first 22 pairs of chromosomes are the same in males and females. (encyclopedia.com)
- Males have only one X chromosome , which is inherited from the mother at conception, and they receive a Y chromosome from the father. (encyclopedia.com)
- Since the FMR-1 gene is located on the X chromosome, males are more likely to develop symptoms than females. (encyclopedia.com)
- This is because males have only one copy of the X chromosome. (encyclopedia.com)
- Males have one Y chromosome and one X chromosome , while females have two X chromosomes. (wikipedia.org)
- Over time, genes that were beneficial for males and harmful to (or had no effect on) females either developed on the Y chromosome or were acquired through the process of translocation . (wikipedia.org)
- Males have both X and Y in their chromosomes (thus XY) while females have two Xs (thus XX). (bellaonline.com)
- Mutations in the human genome cause crippling birth abnormalities and are the source of innumerable genetic diseases, from hemophilia and sickle cell anemia to congenital heart defects and cancer. (eurekalert.org)
- Currently, there are over 100,000 disease-associated mutations in the Human Gene Mutation Database (HGMD). (eurekalert.org)
- As the authors note, it is important for human health to determine the mechanisms underlying these mutations. (eurekalert.org)
- Mutations occur very infrequently (think in terms of 10-20 generations). (bellaonline.com)
- As with other clonally inherited chromosomes, each evolutionary lineage of the Y is physically coupled to, and its evolutionary fate is influenced by, the presence of deleterious mutations. (genetics.org)
- Researchers working at the National Institute for Physiological Sciences (NIPS) and Saitama University have discovered that the photosynthetic cyanobacterium Synechococcus elongatus shows eukaryotic condensed chromosome-like DNA compaction prior to cell division , and were able to reveal details of the transiently formed structure. (phys.org)
- E ditor -The process of X chromosome inactivation was identified as early as 1960 when Ohno and Hauschka 1 described the presence of a pyknotic X chromosome in both benign and malignant cell lines. (bmj.com)
- Mary Lyon formalised the role of X inactivation and its relationship to dosage compensation of X chromosome genetic material in a letter to Nature in 1961. (bmj.com)
- While the Lyon hypothesis dictates that the X inactivation process is random, skewing of this process to the point of non-random X chromosome inactivation is a known mechanism associated with the development of X linked genetic diseases in females. (bmj.com)
- Our laboratory has been interested in the association of non-random X chromosome inactivation (NRXI) with ovarian cancer. (bmj.com)
- The gold standard for assessment of X chromosome inactivation status has been an evaluation of the androgen receptor (AR) gene polymorphism(s). (bmj.com)
- The X chromosome inactivation mechanism results in site specific cytosine methylation of the inactive chromosome. (bmj.com)
- The majority of papers relating to X chromosome inactivation use the AR model. (bmj.com)
- The human IL-4 gene, which occurs as a single copy in the haploid genome, is mapped on chromosome 5. (jimmunol.org)
- Thus when two random haploid genomes are compared, or all the paired chromosomes of one person are compared, there are about three million differences. (genome.gov)
- The Human Genome Project originally aimed to map the nucleotides contained in a haploid reference human genome (more than three billion). (thefullwiki.org)
- although 415 million common and rare genetic variants exist in the human genome,the current genotyping arrays such as Affymetrix and Illumina microarrays can only assay up to 2.5 million SNPs. (wikipedia.org)
- Adamov D, Guryanov V, Karzhavin S, Tagankin V, Urasin V. Defining a new rate constant for Y-chromosome SNPs based on full sequencing data . (isogg.org)
- Technology is just reaching the point that haplotype maps of blocks of SNPs along chromosomes can be developed. (genome.gov)
- The number of DNA sites that are variable (SNPs) in humans is unknown, but there are probably between 10 and 30 million SNPs, about one every 100 to 300 bases. (genome.gov)
- It is one of roughly 10 million tiny differences, known as single nucleotide polymorphisms, or SNPs (pronounced "snips") scattered across the 23 pairs of human chromosomes from which 23andMe takes its name. (nytimes.com)
- Regarding the creation of humans, we propose that a faithful reading of Genesis one and two allows for an evolutionary origin for Adam's body, but evolution cannot explain the origin of spiritual life. (xenos.org)
- We will demonstrate that scripture is compatible with an evolutionary view of the origin of life, including, with exceptions, the origin of human life. (xenos.org)
- Nor can they explain the far and away advanced nature of humans, there is no evolutionary explanation for why we fly spaceships to other planets and monkeys still swing from trees. (abovetopsecret.com)
- Melissa Wilson Sayres, an evolutionary geneticist affiliated with Arizona State University's Biodesign Institute, studies rates of mutation in a range of organisms, including humans. (eurekalert.org)
- Much of her work focuses on the evolutionary contributions of a particular pair of chromosomes: the X and Y. (eurekalert.org)
- One of the big reasons that we wanted to do this study was to see if beetles would reveal anything new about the way that sex chromosomes evolve," said Blackmon, who also worked on the research at the National Evolutionary Synthesis Center in Durham, North Carolina. (medindia.net)
- Like humans, sex determination in beetles is controlled by an XY pair and, in most, the Y is smaller than the X. Many of the same evolutionary forces should be acting in both groups. (medindia.net)
- In sum, testing for both Y-chromosome and mtDNA one can determine the haplogroups one belongs to and hence determine a specific branch on the the tree of evolutionary relationships between groups of people. (bellaonline.com)
- In general, more far is a specie (speaking in evolutionary terms) to human and more big is the difference. (answers.com)
- However, gene duplication, coupled with gene conversion between duplicate pairs, can potentially counteract forces of evolutionary decay that accompany asexual reproduction. (genetics.org)
- Therefore, hexaploid wheat possesses three related genomes, totaling 16,000 Mb in size, composed of seven sets of six related chromosomes with similar gene orders and vast tracts of related and highly repetitive sequences. (pnas.org)
- Willems T, Gymrek M, Poznik GD, Tyler-Smith S, The 1000 Genomes Project Y-Chromosome Working Group, Erlich Y. Population-scale sequencing data enable precise estimates of Y-STR mutation rates . (isogg.org)
- build a human Y-chromosome phylogeny from 69 male genomes. (blogspot.com)
- The homologues must then become intimately aligned or paired along their entire lengths and a proteinaceous structure known as the synaptonemal complex (SC) must be assembled between them, a process called synapsis, as reviewed by Zickler and Kleckner ( 1 ). (pnas.org)
- In the mutant, called phs1 (poor homologous synapsis 1), chromosomes paired up with the wrong partner and were zipped together. (berkeley.edu)
- In a Perspectives piece in the same issue of Science, Enrique Martinez-Perez of Stanford University and Graham Moore of the John Innes Center in the United Kingdom noted that "the function of phs1 lies at the core of coordination between these two events (pairing and synapsis). (berkeley.edu)
- She realized that the previous idea of Clarence Erwin McClung , that the X chromosome determines sex, was wrong and that sex determination is, in fact, due to the presence or absence of the Y chromosome. (wikipedia.org)
- Acquisition of a gene that determines sex is the kiss of death for a chromosome, because other genes nearby on the Y evolve a male-specific function, and these genes are kept together by suppressing exchange with the X. (theconversation.com)
- Life's construction set, DNA, is made up of four key molecules (adenine, thymine, cytosine, and guanine), strung together in pairs to form an extremely long chain, known as a chromosome. (cnn.com)
- Along each chromosome chain, the adenine, thymine, cytosine, and guanine molecules are paired off, and unevenly arranged into discrete segments called genes. (cnn.com)
- After the prespecified conditioning in the discovery cohort, the authors identified an association between a novel single nucleotide polymorphism (SNP) in the CYP2C cluster on chromosome 10 (rs12777823) and warfarin dose requirement that reached genome-wide significance (p = 1.51 × 10 -8 ). (acc.org)
- On the positive strand of human chromosome ten, located next to the 5' end of ANKRD26 is MASTL, microtubule associated serine/threonine kinase-like. (wikipedia.org)
- The CXCL12 gene consists of 4 exons spanning 14.94 kb on the chromosome 10 at band q11.21 (reverse strand) (Figure 1). (atlasgeneticsoncology.org)
- Aren't genes a subset of chromosomes where are particular genetic trait is a small section of the DNA strand that comprises the chromosome? (differencebetween.net)
- After diverging from the chimp & bonobo lineage, in our lineage two chromosomes fused (nothing was shed). (abovetopsecret.com)
- Is this because of an excess of chromosome fissions in the human lineage or an excess of chromosome fusions in the zebrafish lineage? (zfin.org)
- Comparative analysis suggests that an excess of chromosome fissions in the tetrapod lineage may account for chromosome numbers and provides histories for several human chromosomes. (zfin.org)
- We know that the difference between prokaryotes and eukaryotes is in the DNA packaging and delivering system, where eukaryotes have developed a nuclear membrane to protect their genes and form condensed chromosomes to properly parcel the genome into the daughter cell, whereas prokaryotes do not have such a system," says corresponding author Kazuyoshi Murata. (phys.org)
- The use of a human chromosome or its fragment as a vector for animal transgenesis may facilitate functional studies of large human genomic regions. (pnas.org)
- Genomic contigs may be assembled into longer sequences called scaffolds and sometimes, if the depth of sequencing is high enough, there may be enough information to assemble most of the scaffolds into chromosomes. (vectorbase.org)
- It showed that many human genes that are highly expressed were clustered in genomic domains ("ridges"), 5 - 15 Mbp wide. (biomedcentral.com)
- We are currently taking advantage of these paired cell lines to identify genes involved in human TCC progression. (nih.gov)
- The functions of genes involved in inter-chromosome co-expression relationships are non-random and predominantly related to cell-cell communication and reaction to external stimuli. (biomedcentral.com)