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MeSH Review

Chromosome Mapping

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Disease relevance of Chromosome Mapping


Psychiatry related information on Chromosome Mapping

  • Further, it supports the hypothesis that MDD and anxiety disorders have over-lapping genetic etiologies and suggests that comorbid diagnoses may be useful in defining more genetically homogeneous forms of MDD for linkage mapping [6].

High impact information on Chromosome Mapping

  • Using genome-wide linkage mapping and a positional candidate approach, we determined that mutations in SMARCAL1 (SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1), are responsible for SIOD [7].
  • Using genome-wide linkage mapping and a positional candidate approach in a Saudi Arabian family affected with autosomal recessive SCAN1, we identified a homozygous mutation in TDP1 (A1478G) that results in the substitution of histidine 493 with an arginine residue [8].
  • The findings are relevant to the basic mechanisms of epilepsy and to theories of genetic recombination and gene mapping [9].
  • We have identified endoglin as the HHT gene mapping to 9q3 and have established HHT as the first human disease defined by a mutation in a member of the TGF-beta receptor complex [10].
  • Gene mapping within the T/t complex of the mouse. IV: The inverted MHC is intermingled with several t-lethal genes [11].

Biological context of Chromosome Mapping


Anatomical context of Chromosome Mapping


Associations of Chromosome Mapping with chemical compounds

  • The extended arm between biotin and RNA gives efficient electron microscopic gene mapping of DNA:RNA-biotin hybrids with avidin-ferritin and avidin-polymethacylate sphere labels and efficient gene enrichment by buoyant banding of DNA:RNA-biotin:avidin-spheres in CsCl [22].
  • While the findings with ALLOP emphasize the therapeutic potential of neurosteroid treatment during EtOH withdrawal, the gene mapping studies suggest that pregnane neurosteroid biosynthesis may represent a target for therapeutic intervention in the treatment of alcohol dependence [23].
  • FLT4 receptor tyrosine kinase gene mapping to chromosome band 5q35 in relation to the t(2;5), t(5;6), and t(3;5) translocations [24].
  • Genomic organization of adrenergic and serotonin receptors in the mouse: linkage mapping of sequence-related genes provides a method for examining mammalian chromosome evolution [25].
  • Adenosine diphosphate glucose pyrophosphorylase genes in wheat: differential expression and gene mapping [26].

Gene context of Chromosome Mapping


Analytical, diagnostic and therapeutic context of Chromosome Mapping


  1. An efficient strategy for gene mapping using multipoint linkage analysis: exclusion of the multiple endocrine neoplasia 2A (MEN2A) locus from chromosome 13. Farrer, L.A., Goodfellow, P.J., Lamarche, C.M., Franjkovic, I., Myers, S., White, B.N., Holden, J.J., Kidd, J.R., Simpson, N.E., Kidd, K.K. Am. J. Hum. Genet. (1987) [Pubmed]
  2. Genetics of Type I diabetes mellitus: a single, recessive predisposition gene mapping between HLA-B and GLO. With an appendix on the estimation of selection bias. Rubinstein, P., Ginsberg-Fellner, F., Falk, C. Am. J. Hum. Genet. (1981) [Pubmed]
  3. Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping. Jorde, L.B., Watkins, W.S., Viskochil, D., O'Connell, P., Ward, K. Am. J. Hum. Genet. (1993) [Pubmed]
  4. Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Lefèvre, C., Bouadjar, B., Ferrand, V., Tadini, G., Mégarbané, A., Lathrop, M., Prud'homme, J.F., Fischer, J. Hum. Mol. Genet. (2006) [Pubmed]
  5. A locus linked to p16 modifies melanoma risk in Dutch familial atypical multiple mole melanoma (FAMMM) syndrome families. van der Velden, P.A., Sandkuijl, L.A., Bergman, W., Hille, E.T., Frants, R.R., Gruis, N.A. Genome Res. (1999) [Pubmed]
  6. Genome-wide linkage analyses of extended Utah pedigrees identifies loci that influence recurrent, early-onset major depression and anxiety disorders. Camp, N.J., Lowry, M.R., Richards, R.L., Plenk, A.M., Carter, C., Hensel, C.H., Abkevich, V., Skolnick, M.H., Shattuck, D., Rowe, K.G., Hughes, D.C., Cannon-Albright, L.A. Am. J. Med. Genet. B Neuropsychiatr. Genet. (2005) [Pubmed]
  7. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Boerkoel, C.F., Takashima, H., John, J., Yan, J., Stankiewicz, P., Rosenbarker, L., André, J.L., Bogdanovic, R., Burguet, A., Cockfield, S., Cordeiro, I., Fründ, S., Illies, F., Joseph, M., Kaitila, I., Lama, G., Loirat, C., McLeod, D.R., Milford, D.V., Petty, E.M., Rodrigo, F., Saraiva, J.M., Schmidt, B., Smith, G.C., Spranger, J., Stein, A., Thiele, H., Tizard, J., Weksberg, R., Lupski, J.R., Stockton, D.W. Nat. Genet. (2002) [Pubmed]
  8. Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Takashima, H., Boerkoel, C.F., John, J., Saifi, G.M., Salih, M.A., Armstrong, D., Mao, Y., Quiocho, F.A., Roa, B.B., Nakagawa, M., Stockton, D.W., Lupski, J.R. Nat. Genet. (2002) [Pubmed]
  9. Ceruloplasmin gene defect associated with epilepsy in EL mice. Garey, C.E., Schwarzman, A.L., Rise, M.L., Seyfried, T.N. Nat. Genet. (1994) [Pubmed]
  10. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. McAllister, K.A., Grogg, K.M., Johnson, D.W., Gallione, C.J., Baldwin, M.A., Jackson, C.E., Helmbold, E.A., Markel, D.S., McKinnon, W.C., Murrell, J. Nat. Genet. (1994) [Pubmed]
  11. Gene mapping within the T/t complex of the mouse. IV: The inverted MHC is intermingled with several t-lethal genes. Shin, H.S., Bennett, D., Artzt, K. Cell (1984) [Pubmed]
  12. A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes. Gubbay, J., Collignon, J., Koopman, P., Capel, B., Economou, A., Münsterberg, A., Vivian, N., Goodfellow, P., Lovell-Badge, R. Nature (1990) [Pubmed]
  13. Zmhox1a, the product of a novel maize homeobox gene, interacts with the Shrunken 26 bp feedback control element. Bellmann, R., Werr, W. EMBO J. (1992) [Pubmed]
  14. A highly polymorphic dinucleotide repeat on the proximal short arm of the human X chromosome: linkage mapping of the synapsin I/A-raf-1 genes. Kirchgessner, C.U., Trofatter, J.A., Mahtani, M.M., Willard, H.F., DeGennaro, L.J. Am. J. Hum. Genet. (1991) [Pubmed]
  15. Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease. Christodoulou, K., Tsingis, M., Stavrou, C., Eleftheriou, A., Papapavlou, P., Patsalis, P.C., Ioannou, P., Pierides, A., Constantinou Deltas, C. Hum. Mol. Genet. (1998) [Pubmed]
  16. The genome data base (GDB)--a human gene mapping repository. Pearson, P.L. Nucleic Acids Res. (1991) [Pubmed]
  17. Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice. Grompe, M., al-Dhalimy, M., Finegold, M., Ou, C.N., Burlingame, T., Kennaway, N.G., Soriano, P. Genes Dev. (1993) [Pubmed]
  18. Assignment of the human gene for the beta subunit of the voltage-dependent calcium channel (CACNLB1) to chromosome 17 using somatic cell hybrids and linkage mapping. Gregg, R.G., Powers, P.A., Hogan, K. Genomics (1993) [Pubmed]
  19. Demonstration of gene dosage effects for AK3 and GALT in fibroblasts from a fetus with 9p trisomy. Steinbach, P., Benz, R. Hum. Genet. (1983) [Pubmed]
  20. Isolation and mapping of two porcine skeletal muscle myosin heavy chain isoforms. Davoli, R., Zambonelli, P., Bigi, D., Fontanesi, L., Russo, V. Anim. Genet. (1998) [Pubmed]
  21. Mechanisms of the H-2 effect on viral leukemogenesis. Bubbers, J.E., Blank, K.J., Freedman, H.A., Lilly, F. Scand. J. Immunol. (1977) [Pubmed]
  22. Gene mapping and gene enrichment by the avidin-biotin interaction: use of cytochrome-c as a polyamine bridge. Sodja, A., Davidson, N. Nucleic Acids Res. (1978) [Pubmed]
  23. The role of pregnane neurosteroids in ethanol withdrawal: behavioral genetic approaches. Finn, D.A., Ford, M.M., Wiren, K.M., Roselli, C.E., Crabbe, J.C. Pharmacol. Ther. (2004) [Pubmed]
  24. FLT4 receptor tyrosine kinase gene mapping to chromosome band 5q35 in relation to the t(2;5), t(5;6), and t(3;5) translocations. Armstrong, E., Kastury, K., Aprelikova, O., Bullrich, F., Nezelof, C., Gogusev, J., Wasmuth, J.J., Alitalo, K., Morris, S., Huebner, K. Genes Chromosomes Cancer (1993) [Pubmed]
  25. Genomic organization of adrenergic and serotonin receptors in the mouse: linkage mapping of sequence-related genes provides a method for examining mammalian chromosome evolution. Oakey, R.J., Caron, M.G., Lefkowitz, R.J., Seldin, M.F. Genomics (1991) [Pubmed]
  26. Adenosine diphosphate glucose pyrophosphorylase genes in wheat: differential expression and gene mapping. Ainsworth, C., Hosein, F., Tarvis, M., Weir, F., Burrell, M., Devos, K.M., Gale, M.D. Planta (1995) [Pubmed]
  27. Linkage mapping of the human CSF2 and IL3 genes. Frolova, E.I., Dolganov, G.M., Mazo, I.A., Smirnov, D.V., Copeland, P., Stewart, C., O'Brien, S.J., Dean, M. Proc. Natl. Acad. Sci. U.S.A. (1991) [Pubmed]
  28. Phosphorylation and microtubule association of the Opitz syndrome protein mid-1 is regulated by protein phosphatase 2A via binding to the regulatory subunit alpha 4. Liu, J., Prickett, T.D., Elliott, E., Meroni, G., Brautigan, D.L. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  29. Variable sensitivity to noxious heat is mediated by differential expression of the CGRP gene. Mogil, J.S., Miermeister, F., Seifert, F., Strasburg, K., Zimmermann, K., Reinold, H., Austin, J.S., Bernardini, N., Chesler, E.J., Hofmann, H.A., Hordo, C., Messlinger, K., Nemmani, K.V., Rankin, A.L., Ritchie, J., Siegling, A., Smith, S.B., Sotocinal, S., Vater, A., Lehto, S.G., Klussmann, S., Quirion, R., Michaelis, M., Devor, M., Reeh, P.W. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  30. A MspI polymorphism and linkage mapping of the human protein-tyrosine phosphatase G (PTPRG) gene. Latif, F., Tory, K., Modi, W., Geil, L., LaForgia, S., Huebner, K., Zbar, B., Lerman, M.I. Hum. Mol. Genet. (1993) [Pubmed]
  31. Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22. Serebriiskii, I., Estojak, J., Sonoda, G., Testa, J.R., Golemis, E.A. Oncogene (1997) [Pubmed]
  32. Localization of the human glucagon gene (GCG) to chromosome segment 2q36----37. Schroeder, W.T., Lopez, L.C., Harper, M.E., Saunders, G.F. Cytogenet. Cell Genet. (1984) [Pubmed]
  33. Analyses of genetic variants of L-glycerol-3-phosphate dehydrogenase in Drosophila melanogaster by two-dimensional gel electrophoresis and immunoelectrophoresis. Lee, C.Y., Niesel, D., Bewley, G.C. Biochem. Genet. (1980) [Pubmed]
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