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MeSH Review

Genome, Human

 Flajnik,  Kasahara,  Barton,  Eyre,  Myerscough,  Brintnell,  Ward,  Ollier,  Lorentzen,  Klareskog,  Silman,  John,  Worthington,  Oakley,  Verrelli,  McDonald,  Argyropoulos,  Destro-Bisol,  Froment,  Drousiotou,  Lefranc,  Helal,  Loiselet,  Tishkoff,  Borst,  Elferink,  Lander,  Linton,  Birren,  Nusbaum,  Zody,  Baldwin,  Devon,  Dewar,  Doyle,  FitzHugh,  Funke,  Gage,  Harris,  Heaford,  Howland,  Kann,  Lehoczky,  LeVine,  McEwan,  McKernan,  Meldrim,  Mesirov,  Miranda,  Morris,  Naylor,  Raymond,  Rosetti,  Santos,  Sheridan,  Sougnez,  Stange-Thomann,  Stojanovic,  Subramanian,  Wyman,  Rogers,  Sulston,  Ainscough,  Beck,  Bentley,  Burton,  Clee,  Carter,  Coulson,  Deadman,  Deloukas,  Dunham,  Dunham,  Durbin,  French,  Grafham,  Gregory,  Hubbard,  Humphray,  Hunt,  Jones,  Lloyd,  McMurray,  Matthews,  Mercer,  Milne,  Mullikin,  Mungall,  Plumb,  Ross,  Shownkeen,  Sims,  Waterston,  Wilson,  Hillier,  McPherson,  Marra,  Mardis,  Fulton,  Chinwalla,  Pepin,  Gish,  Chissoe,  Wendl,  Delehaunty,  Miner,  Delehaunty,  Kramer,  Cook,  Fulton,  Johnson,  Minx,  Clifton,  Hawkins,  Branscomb,  Predki,  Richardson,  Wenning,  Slezak,  Doggett,  Cheng,  Olsen,  Lucas,  Elkin,  Uberbacher,  Frazier,  Gibbs,  Muzny,  Scherer,  Bouck,  Sodergren,  Worley,  Rives,  Gorrell,  Metzker,  Naylor,  Kucherlapati,  Nelson,  Weinstock,  Sakaki,  Fujiyama,  Hattori,  Yada,  Toyoda,  Itoh,  Kawagoe,  Watanabe,  Totoki,  Taylor,  Weissenbach,  Heilig,  Saurin,  Artiguenave,  Brottier,  Bruls,  Pelletier,  Robert,  Wincker,  Smith,  Doucette-Stamm,  Rubenfield,  Weinstock,  Lee,  Dubois,  Rosenthal,  Platzer,  Nyakatura,  Taudien,  Rump,  Yang,  Yu,  Wang,  Huang,  Gu,  Hood,  Rowen,  Madan,  Qin,  Davis,  Federspiel,  Abola,  Proctor,  Myers,  Schmutz,  Dickson,  Grimwood,  Cox,  Olson,  Kaul,  Raymond,  Shimizu,  Kawasaki,  Minoshima,  Evans,  Athanasiou,  Schultz,  Roe,  Chen,  Pan,  Ramser,  Lehrach,  Reinhardt,  McCombie,  de la Bastide,  Dedhia,  Blöcker,  Hornischer,  Nordsiek,  Agarwala,  Aravind,  Bailey,  Bateman,  Batzoglou,  Birney,  Bork,  Brown,  Burge,  Cerutti,  Chen,  Church,  Clamp,  Copley,  Doerks,  Eddy,  Eichler,  Furey,  Galagan,  Gilbert,  Harmon,  Hayashizaki,  Haussler,  Hermjakob,  Hokamp,  Jang,  Johnson,  Jones,  Kasif,  Kaspryzk,  Kennedy,  Kent,  Kitts,  Koonin,  Korf,  Kulp,  Lancet,  Lowe,  McLysaght,  Mikkelsen,  Moran,  Mulder,  Pollara,  Ponting,  Schuler,  Schultz,  Slater,  Smit,  Stupka,  Szustakowski,  Thierry-Mieg,  Thierry-Mieg,  Wagner,  Wallis,  Wheeler,  Williams,  Wolf,  Wolfe,  Yang,  Yeh,  Collins,  Guyer,  Peterson,  Felsenfeld,  Wetterstrand,  Patrinos,  Morgan,  de Jong,  Catanese,  Osoegawa,  Shizuya,  Choi,  Chen,  Szustakowki,  
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Disease relevance of Genome, Human


Psychiatry related information on Genome, Human


High impact information on Genome, Human

  • The available outline of the human genome contains 48 ABC genes; 16 of these have a known function and 14 are associated with a defined human disease [8].
  • We have applied this strategy to map p53 targets in the human genome [9].
  • Juvenile hemochromatosis has previously been linked to the centromeric region of chromosome 1q (refs. 3-6), a region that is incomplete in the human genome assembly [10].
  • Protein tyrosine phosphatases in the human genome [11].
  • Here, we present the set of 107 genes in the human genome that encode members of the four protein tyrosine phosphatase (PTP) families [11].

Chemical compound and disease context of Genome, Human


Biological context of Genome, Human


Anatomical context of Genome, Human

  • Three paralogous regions of the human genome contain sets of linked genes homologous to various loci in the MHC class I, class II, and/or class III regions, providing insight into the organization of the "proto MHC" before the emergence of the adaptive immune system in the jawed vertebrates [19].
  • Following the sequencing of the human genome, data-mining efforts have revealed the existence of a new histamine receptor that is expressed at high levels in mast cells and leukocytes [20].
  • We report the application of the polymerase chain reaction to direct amplification of human DNA from hybrid cells containing regions of the human genome in rodent cell backgrounds using primers directed to the human Alu repeat element [21].
  • Southern blot analysis indicated that the ATDC gene is present in a single copy in the human genome; however, RNA blot analysis revealed mRNA of several sizes (1.8, 2.6, 3.0, 4.7, and 5.7 kb) that varied among different cell lines [22].
  • This suggests that the tissue-specific expression of PTN due to the HERV insertion in the human genome supports the highly aggressive growth of human choriocarcinoma and possibly of the human trophoblast [23].

Associations of Genome, Human with chemical compounds

  • The organization of three sequence classes--single copy, repetitive, and inverted repeated sequences--within the human genome has been studied by renaturation techniques, hydroxylapatite binding methods, and DNA hyperchromism [24].
  • Four enzymes that catalyse the hydrolysis of the glycosylic bond of dU in DNA to yield an apyridiminic site as the first step in base excision repair have been identified in the human genome [25].
  • PARTICIPANTS--Scientists, ethicists, lawyers, and consumers selected by the National Center for Human Genome Research and the Centers for Disease Control and Prevention to represent a wide array of opinions [26].
  • These changes all represent C----T transitions at CpG dinucleotides, proposed "hot spots" for mutation in the human genome [27].
  • Three genes closely related to the D1 dopamine receptor were identified in the human genome [28].

Gene context of Genome, Human

  • We report here the identification by positional cloning, in a region not covered by the human genome sequencing projects, of a new gene, BSND, as the cause of BSND [29].
  • Here we describe a protein, Mal (MyD88-adapter-like), which joins MyD88 as a cytoplasmic TIR-domain-containing protein in the human genome [30].
  • We now have evidence that the human genome possesses an additional relaxin-related gene (designated human relaxin gene H2) which appears to be selectively expressed in the ovary during pregnancy [31].
  • Glucose-6-phosphate dehydrogenase (G6PD) mutations that result in reduced enzyme activity have been implicated in malarial resistance and constitute one of the best examples of selection in the human genome [32].
  • Despite the presence of at least five loci in the human genome, on chromosomes 2q, 3p, 11q, 15q and 16q, as many as 50% of the mutations appear to map to the BBS1 locus on 11q13 [33].

Analytical, diagnostic and therapeutic context of Genome, Human


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  2. Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father. Lázaro, C., Ravella, A., Gaona, A., Volpini, V., Estivill, X. N. Engl. J. Med. (1994) [Pubmed]
  3. A variable number of tandem repeats locus within the human complement C2 gene is associated with a retroposon derived from a human endogenous retrovirus. Zhu, Z.B., Hsieh, S.L., Bentley, D.R., Campbell, R.D., Volanakis, J.E. J. Exp. Med. (1992) [Pubmed]
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  5. Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome. Lidsky, A.S., Law, M.L., Morse, H.G., Kao, F.T., Rabin, M., Ruddle, F.H., Woo, S.L. Proc. Natl. Acad. Sci. U.S.A. (1985) [Pubmed]
  6. Initial sequencing and analysis of the human genome. Lander, E.S., Linton, L.M., Birren, B., Nusbaum, C., Zody, M.C., Baldwin, J., Devon, K., Dewar, K., Doyle, M., FitzHugh, W., Funke, R., Gage, D., Harris, K., Heaford, A., Howland, J., Kann, L., Lehoczky, J., LeVine, R., McEwan, P., McKernan, K., Meldrim, J., Mesirov, J.P., Miranda, C., Morris, W., Naylor, J., Raymond, C., Rosetti, M., Santos, R., Sheridan, A., Sougnez, C., Stange-Thomann, N., Stojanovic, N., Subramanian, A., Wyman, D., Rogers, J., Sulston, J., Ainscough, R., Beck, S., Bentley, D., Burton, J., Clee, C., Carter, N., Coulson, A., Deadman, R., Deloukas, P., Dunham, A., Dunham, I., Durbin, R., French, L., Grafham, D., Gregory, S., Hubbard, T., Humphray, S., Hunt, A., Jones, M., Lloyd, C., McMurray, A., Matthews, L., Mercer, S., Milne, S., Mullikin, J.C., Mungall, A., Plumb, R., Ross, M., Shownkeen, R., Sims, S., Waterston, R.H., Wilson, R.K., Hillier, L.W., McPherson, J.D., Marra, M.A., Mardis, E.R., Fulton, L.A., Chinwalla, A.T., Pepin, K.H., Gish, W.R., Chissoe, S.L., Wendl, M.C., Delehaunty, K.D., Miner, T.L., Delehaunty, A., Kramer, J.B., Cook, L.L., Fulton, R.S., Johnson, D.L., Minx, P.J., Clifton, S.W., Hawkins, T., Branscomb, E., Predki, P., Richardson, P., Wenning, S., Slezak, T., Doggett, N., Cheng, J.F., Olsen, A., Lucas, S., Elkin, C., Uberbacher, E., Frazier, M., Gibbs, R.A., Muzny, D.M., Scherer, S.E., Bouck, J.B., Sodergren, E.J., Worley, K.C., Rives, C.M., Gorrell, J.H., Metzker, M.L., Naylor, S.L., Kucherlapati, R.S., Nelson, D.L., Weinstock, G.M., Sakaki, Y., Fujiyama, A., Hattori, M., Yada, T., Toyoda, A., Itoh, T., Kawagoe, C., Watanabe, H., Totoki, Y., Taylor, T., Weissenbach, J., Heilig, R., Saurin, W., Artiguenave, F., Brottier, P., Bruls, T., Pelletier, E., Robert, C., Wincker, P., Smith, D.R., Doucette-Stamm, L., Rubenfield, M., Weinstock, K., Lee, H.M., Dubois, J., Rosenthal, A., Platzer, M., Nyakatura, G., Taudien, S., Rump, A., Yang, H., Yu, J., Wang, J., Huang, G., Gu, J., Hood, L., Rowen, L., Madan, A., Qin, S., Davis, R.W., Federspiel, N.A., Abola, A.P., Proctor, M.J., Myers, R.M., Schmutz, J., Dickson, M., Grimwood, J., Cox, D.R., Olson, M.V., Kaul, R., Raymond, C., Shimizu, N., Kawasaki, K., Minoshima, S., Evans, G.A., Athanasiou, M., Schultz, R., Roe, B.A., Chen, F., Pan, H., Ramser, J., Lehrach, H., Reinhardt, R., McCombie, W.R., de la Bastide, M., Dedhia, N., Blöcker, H., Hornischer, K., Nordsiek, G., Agarwala, R., Aravind, L., Bailey, J.A., Bateman, A., Batzoglou, S., Birney, E., Bork, P., Brown, D.G., Burge, C.B., Cerutti, L., Chen, H.C., Church, D., Clamp, M., Copley, R.R., Doerks, T., Eddy, S.R., Eichler, E.E., Furey, T.S., Galagan, J., Gilbert, J.G., Harmon, C., Hayashizaki, Y., Haussler, D., Hermjakob, H., Hokamp, K., Jang, W., Johnson, L.S., Jones, T.A., Kasif, S., Kaspryzk, A., Kennedy, S., Kent, W.J., Kitts, P., Koonin, E.V., Korf, I., Kulp, D., Lancet, D., Lowe, T.M., McLysaght, A., Mikkelsen, T., Moran, J.V., Mulder, N., Pollara, V.J., Ponting, C.P., Schuler, G., Schultz, J., Slater, G., Smit, A.F., Stupka, E., Szustakowski, J., Thierry-Mieg, D., Thierry-Mieg, J., Wagner, L., Wallis, J., Wheeler, R., Williams, A., Wolf, Y.I., Wolfe, K.H., Yang, S.P., Yeh, R.F., Collins, F., Guyer, M.S., Peterson, J., Felsenfeld, A., Wetterstrand, K.A., Patrinos, A., Morgan, M.J., de Jong, P., Catanese, J.J., Osoegawa, K., Shizuya, H., Choi, S., Chen, Y.J., Szustakowki, J. Nature (2001) [Pubmed]
  7. Global prevention of all folic acid-preventable spina bifida and anencephaly by 2010. Oakley, G.P. Community genetics. (2002) [Pubmed]
  8. Mammalian ABC transporters in health and disease. Borst, P., Elferink, R.O. Annu. Rev. Biochem. (2002) [Pubmed]
  9. A global map of p53 transcription-factor binding sites in the human genome. Wei, C.L., Wu, Q., Vega, V.B., Chiu, K.P., Ng, P., Zhang, T., Shahab, A., Yong, H.C., Fu, Y., Weng, Z., Liu, J., Zhao, X.D., Chew, J.L., Lee, Y.L., Kuznetsov, V.A., Sung, W.K., Miller, L.D., Lim, B., Liu, E.T., Yu, Q., Ng, H.H., Ruan, Y. Cell (2006) [Pubmed]
  10. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Papanikolaou, G., Samuels, M.E., Ludwig, E.H., MacDonald, M.L., Franchini, P.L., Dubé, M.P., Andres, L., MacFarlane, J., Sakellaropoulos, N., Politou, M., Nemeth, E., Thompson, J., Risler, J.K., Zaborowska, C., Babakaiff, R., Radomski, C.C., Pape, T.D., Davidas, O., Christakis, J., Brissot, P., Lockitch, G., Ganz, T., Hayden, M.R., Goldberg, Y.P. Nat. Genet. (2004) [Pubmed]
  11. Protein tyrosine phosphatases in the human genome. Alonso, A., Sasin, J., Bottini, N., Friedberg, I., Friedberg, I., Osterman, A., Godzik, A., Hunter, T., Dixon, J., Mustelin, T. Cell (2004) [Pubmed]
  12. Experiments with cloned complete tumor-derived bovine leukemia virus information prove that the virus is totally exogenous to its target animal species. Deschamps, J., Kettmann, R., Burny, A. J. Virol. (1981) [Pubmed]
  13. ERV3 and related sequences in humans: structure and RNA expression. Andersson, A.C., Yun, Z., Sperber, G.O., Larsson, E., Blomberg, J. J. Virol. (2005) [Pubmed]
  14. The host defence function of genomic methylation patterns. Bestor, T.H. Novartis Found. Symp. (1998) [Pubmed]
  15. Two erbA homologs encoding proteins with different T3 binding capacities are transcribed from opposite DNA strands of the same genetic locus. Miyajima, N., Horiuchi, R., Shibuya, Y., Fukushige, S., Matsubara, K., Toyoshima, K., Yamamoto, T. Cell (1989) [Pubmed]
  16. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Matsuura, T., Yamagata, T., Burgess, D.L., Rasmussen, A., Grewal, R.P., Watase, K., Khajavi, M., McCall, A.E., Davis, C.F., Zu, L., Achari, M., Pulst, S.M., Alonso, E., Noebels, J.L., Nelson, D.L., Zoghbi, H.Y., Ashizawa, T. Nat. Genet. (2000) [Pubmed]
  17. Double-strand breaks on YACs during yeast meiosis may reflect meiotic recombination in the human genome. Klein, S., Zenvirth, D., Sherman, A., Ried, K., Rappold, G., Simchen, G. Nat. Genet. (1996) [Pubmed]
  18. Positional identification of Ncf1 as a gene that regulates arthritis severity in rats. Olofsson, P., Holmberg, J., Tordsson, J., Lu, S., Akerström, B., Holmdahl, R. Nat. Genet. (2003) [Pubmed]
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  22. Cloning of a candidate gene for ataxia-telangiectasia group D. Kapp, L.N., Painter, R.B., Yu, L.C., van Loon, N., Richard, C.W., James, M.R., Cox, D.R., Murnane, J.P. Am. J. Hum. Genet. (1992) [Pubmed]
  23. Human trophoblast and choriocarcinoma expression of the growth factor pleiotrophin attributable to germ-line insertion of an endogenous retrovirus. Schulte, A.M., Lai, S., Kurtz, A., Czubayko, F., Riegel, A.T., Wellstein, A. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
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  29. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Birkenhäger, R., Otto, E., Schürmann, M.J., Vollmer, M., Ruf, E.M., Maier-Lutz, I., Beekmann, F., Fekete, A., Omran, H., Feldmann, D., Milford, D.V., Jeck, N., Konrad, M., Landau, D., Knoers, N.V., Antignac, C., Sudbrak, R., Kispert, A., Hildebrandt, F. Nat. Genet. (2001) [Pubmed]
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  31. Relaxin gene expression in human ovaries and the predicted structure of a human preprorelaxin by analysis of cDNA clones. Hudson, P., John, M., Crawford, R., Haralambidis, J., Scanlon, D., Gorman, J., Tregear, G., Shine, J., Niall, H. EMBO J. (1984) [Pubmed]
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  38. Chronic lymphocytic leukemic cells exhibit apoptotic signaling via TRAIL-R1. MacFarlane, M., Inoue, S., Kohlhaas, S.L., Majid, A., Harper, N., Kennedy, D.B., Dyer, M.J., Cohen, G.M. Cell Death Differ. (2005) [Pubmed]
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