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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Chromosomes, Human

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Disease relevance of Chromosomes, Human


Psychiatry related information on Chromosomes, Human


High impact information on Chromosomes, Human


Chemical compound and disease context of Chromosomes, Human


Biological context of Chromosomes, Human


Anatomical context of Chromosomes, Human


Associations of Chromosomes, Human with chemical compounds

  • The presence of a human-specific enzyme identified by this method correlated with the presence of a particular human chromosome permitting assignments of the human cytoplasmic forms of NADP-linked IDH, human PGI, and human HGPRT genes to chromosomes 2, 19, and X, respectively [29].
  • Differential fluorescent staining of human chromosomes with daunomycin and adriamycin--the d-bands [30].
  • The p75/AIRM1 gene is located on human chromosome 19 and encodes a novel member of the sialoadhesin family characterized by three immunoglobulin-like extracellular domains (one NH(2)-terminal V-type and two C2-type) and a classical immunoreceptor tyrosine-based inhibitory motif (ITIM) in the cytoplasmic portion [31].
  • Serological analysis of hybrids containing defined segments of human chromosome 11 permitted the regional assignment of genes controlling antigens JF23 (90 kD glycoprotein), G344 (25 kD), T43 (85 kD), A124, and NP13 to chromosome 11pter-q13, and of genes controlling Q14 (130 kD), MC139 (35 kD), and K117 (25 kD) to chromosome 11q13-qter [32].
  • Organization of the genes encoding complement receptors type 1 and 2, decay-accelerating factor, and C4-binding protein in the RCA locus on human chromosome 1 [33].

Gene context of Chromosomes, Human

  • We assigned TRPS1 to human chromosome 8q24 [34].
  • Here we report a locus for dominant deafness, DFNA36, which maps to human chromosome 9q13-21 in a region overlapping the DFNB7/B11 locus for recessive deafness [35].
  • Clues to the function of APP derive from the recent finding that it is a member of a highly conserved protein family that includes the mammalian amyloid precursor-like protein (APLP1) gene which maps to the same general region of human chromosome 19 linked to late-onset FAD [36].
  • The fact that the mutated alleles were inherited from the parents in one affected family and were not found in ethnically matched controls suggests that mutation of RECQL4 at human chromosome 8q24.3 is responsible for at least some cases of RTS [37].
  • GJB3 was mapped to human chromosome 1p33-p35 [38].

Analytical, diagnostic and therapeutic context of Chromosomes, Human


  1. Uncoupling protein-2: a novel gene linked to obesity and hyperinsulinemia. Fleury, C., Neverova, M., Collins, S., Raimbault, S., Champigny, O., Levi-Meyrueis, C., Bouillaud, F., Seldin, M.F., Surwit, R.S., Ricquier, D., Warden, C.H. Nat. Genet. (1997) [Pubmed]
  2. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Hadano, S., Hand, C.K., Osuga, H., Yanagisawa, Y., Otomo, A., Devon, R.S., Miyamoto, N., Showguchi-Miyata, J., Okada, Y., Singaraja, R., Figlewicz, D.A., Kwiatkowski, T., Hosler, B.A., Sagie, T., Skaug, J., Nasir, J., Brown, R.H., Scherer, S.W., Rouleau, G.A., Hayden, M.R., Ikeda, J.E. Nat. Genet. (2001) [Pubmed]
  3. Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome. Guris, D.L., Fantes, J., Tara, D., Druker, B.J., Imamoto, A. Nat. Genet. (2001) [Pubmed]
  4. A gene (Bevi) on human chromosome 6 is an integration site for baboon type C DNA provirus in human cells. Lemons, R.S., Nash, W.G., O'Brien, S.J., Benveniste, R.E., Sherr, C.J. Cell (1978) [Pubmed]
  5. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Lupski, J.R., de Oca-Luna, R.M., Slaugenhaupt, S., Pentao, L., Guzzetta, V., Trask, B.J., Saucedo-Cardenas, O., Barker, D.F., Killian, J.M., Garcia, C.A., Chakravarti, A., Patel, P.I. Cell (1991) [Pubmed]
  6. Amyloid beta-protein deposition in tissues other than brain in Alzheimer's disease. Joachim, C.L., Mori, H., Selkoe, D.J. Nature (1989) [Pubmed]
  7. The E7-associated cell-surface antigen: a marker for the 11p13 chromosomal deletion associated with aniridia-Wilms tumor. Scoggin, C.H., Fisher, J.H., Shoemaker, S.A., Morse, H., Leigh, T., Riccardi, V.M. Am. J. Hum. Genet. (1985) [Pubmed]
  8. Human gamma-aminobutyric acid B receptor gene: complementary DNA cloning, expression, chromosomal location, and genomic organization. Goei, V.L., Choi, J., Ahn, J., Bowlus, C.L., Raha-Chowdhury, R., Gruen, J.R. Biol. Psychiatry (1998) [Pubmed]
  9. Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3. Mittaz, L., Scott, H.S., Rossier, C., Seeburg, P.H., Higuchi, M., Antonarakis, S.E. Genomics (1997) [Pubmed]
  10. Physical and radiation hybrid mapping of canine chromosome 12, in a region corresponding to human chromosome 6p12-q12. Li, R., Faraco, J.H., Lin, L., Lin, X., Hinton, L., Rogers, W., Lowe, J.K., Ostrander, E.A., Mignot, E. Genomics (2001) [Pubmed]
  11. The CD40 antigen and its ligand. Banchereau, J., Bazan, F., Blanchard, D., Brière, F., Galizzi, J.P., van Kooten, C., Liu, Y.J., Rousset, F., Saeland, S. Annu. Rev. Immunol. (1994) [Pubmed]
  12. Chromosome-wide mapping of estrogen receptor binding reveals long-range regulation requiring the forkhead protein FoxA1. Carroll, J.S., Liu, X.S., Brodsky, A.S., Li, W., Meyer, C.A., Szary, A.J., Eeckhoute, J., Shao, W., Hestermann, E.V., Geistlinger, T.R., Fox, E.A., Silver, P.A., Brown, M. Cell (2005) [Pubmed]
  13. Genomic maps and comparative analysis of histone modifications in human and mouse. Bernstein, B.E., Kamal, M., Lindblad-Toh, K., Bekiranov, S., Bailey, D.K., Huebert, D.J., McMahon, S., Karlsson, E.K., Kulbokas, E.J., Gingeras, T.R., Schreiber, S.L., Lander, E.S. Cell (2005) [Pubmed]
  14. Heritable integration of kDNA minicircle sequences from Trypanosoma cruzi into the avian genome: insights into human Chagas disease. Nitz, N., Gomes, C., de Cássia Rosa, A., D'Souza-Ault, M.R., Moreno, F., Lauria-Pires, L., Nascimento, R.J., Teixeira, A.R. Cell (2004) [Pubmed]
  15. Linkage analysis of the apolipoprotein C2 gene and myotonic dystrophy on human chromosome 19 reveals linkage disequilibrium in a French-Canadian population. MacKenzie, A.E., MacLeod, H.L., Hunter, A.G., Korneluk, R.G. Am. J. Hum. Genet. (1989) [Pubmed]
  16. Suppression of the malignant phenotype of human prostate cancer cell line PPC-1 by introduction of normal fragments of human chromosome 10. Murakami, Y.S., Albertsen, H., Brothman, A.R., Leach, R.J., White, R.L. Cancer Res. (1996) [Pubmed]
  17. Alterations of the tumor suppressor gene Parkin in non-small cell lung cancer. Picchio, M.C., Martin, E.S., Cesari, R., Calin, G.A., Yendamuri, S., Kuroki, T., Pentimalli, F., Sarti, M., Yoder, K., Kaiser, L.R., Fishel, R., Croce, C.M. Clin. Cancer Res. (2004) [Pubmed]
  18. Structure and linkage of the D2 dopamine receptor and neural cell adhesion molecule genes on human chromosome 11q23. Eubanks, J.H., Djabali, M., Selleri, L., Grandy, D.K., Civelli, O., McElligott, D.L., Evans, G.A. Genomics (1992) [Pubmed]
  19. A novel gene on human chromosome 2p24 is differentially expressed between androgen-dependent and androgen-independent prostate cancer cells. Chang, G.T., Steenbeek, M., Schippers, E., Blok, L.J., van Weerden, W.M., van Alewijk, D.C., Eussen, B.H., van Steenbrugge, G.J., Brinkmann, A.O. Eur. J. Cancer (2001) [Pubmed]
  20. Linkage and association between insulin-dependent diabetes mellitus (IDDM) susceptibility and markers near the glucokinase gene on chromosome 7. Rowe, R.E., Wapelhorst, B., Bell, G.I., Risch, N., Spielman, R.S., Concannon, P. Nat. Genet. (1995) [Pubmed]
  21. Mechanism of met oncogene activation. Park, M., Dean, M., Cooper, C.S., Schmidt, M., O'Brien, S.J., Blair, D.G., Vande Woude, G.F. Cell (1986) [Pubmed]
  22. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Kohl, S., Marx, T., Giddings, I., Jägle, H., Jacobson, S.G., Apfelstedt-Sylla, E., Zrenner, E., Sharpe, L.T., Wissinger, B. Nat. Genet. (1998) [Pubmed]
  23. Similarity of protein encoded by the human c-erb-B-2 gene to epidermal growth factor receptor. Yamamoto, T., Ikawa, S., Akiyama, T., Semba, K., Nomura, N., Miyajima, N., Saito, T., Toyoshima, K. Nature (1986) [Pubmed]
  24. L-myc, a new myc-related gene amplified and expressed in human small cell lung cancer. Nau, M.M., Brooks, B.J., Battey, J., Sausville, E., Gazdar, A.F., Kirsch, I.R., McBride, O.W., Bertness, V., Hollis, G.F., Minna, J.D. Nature (1985) [Pubmed]
  25. MSX1 inhibits myoD expression in fibroblast x 10T1/2 cell hybrids. Woloshin, P., Song, K., Degnin, C., Killary, A.M., Goldhamer, D.J., Sassoon, D., Thayer, M.J. Cell (1995) [Pubmed]
  26. Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13. Zielenski, J., Corey, M., Rozmahel, R., Markiewicz, D., Aznarez, I., Casals, T., Larriba, S., Mercier, B., Cutting, G.R., Krebsova, A., Macek, M., Langfelder-Schwind, E., Marshall, B.C., DeCelie-Germana, J., Claustres, M., Palacio, A., Bal, J., Nowakowska, A., Ferec, C., Estivill, X., Durie, P., Tsui, L.C. Nat. Genet. (1999) [Pubmed]
  27. Tissue localization and chromosomal assignment of a serum protein that tracks the cystic fibrosis gene. van Heyningen, V., Hayward, C., Fletcher, J., McAuley, C. Nature (1985) [Pubmed]
  28. Human endothelial cell growth factor: cloning, nucleotide sequence, and chromosome localization. Jaye, M., Howk, R., Burgess, W., Ricca, G.A., Chiu, I.M., Ravera, M.W., O'Brien, S.J., Modi, W.S., Maciag, T., Drohan, W.N. Science (1986) [Pubmed]
  29. Immunochemical detection of human enzymes in hybrid cells. Shimizu, N., Shimizu, Y., Kucherlapati, R.S., Ruddle, F.H. Cell (1976) [Pubmed]
  30. Differential fluorescent staining of human chromosomes with daunomycin and adriamycin--the d-bands. Lin, C.C., Van de Sande, J.H. Science (1975) [Pubmed]
  31. Identification and molecular cloning of p75/AIRM1, a novel member of the sialoadhesin family that functions as an inhibitory receptor in human natural killer cells. Falco, M., Biassoni, R., Bottino, C., Vitale, M., Sivori, S., Augugliaro, R., Moretta, L., Moretta, A. J. Exp. Med. (1999) [Pubmed]
  32. Role of human chromosome 11 in determining surface antigenic phenotype of normal and malignant cells. Somatic cell genetic analysis of eight antigens, including putative human Thy-1. Rettig, W.J., Dracopoli, N.C., Chesa, P.G., Spengler, B.A., Beresford, H.R., Davies, P., Biedler, J.L., Old, L.J. J. Exp. Med. (1985) [Pubmed]
  33. Organization of the genes encoding complement receptors type 1 and 2, decay-accelerating factor, and C4-binding protein in the RCA locus on human chromosome 1. Carroll, M.C., Alicot, E.M., Katzman, P.J., Klickstein, L.B., Smith, J.A., Fearon, D.T. J. Exp. Med. (1988) [Pubmed]
  34. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Momeni, P., Glöckner, G., Schmidt, O., von Holtum, D., Albrecht, B., Gillessen-Kaesbach, G., Hennekam, R., Meinecke, P., Zabel, B., Rosenthal, A., Horsthemke, B., Lüdecke, H.J. Nat. Genet. (2000) [Pubmed]
  35. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Kurima, K., Peters, L.M., Yang, Y., Riazuddin, S., Ahmed, Z.M., Naz, S., Arnaud, D., Drury, S., Mo, J., Makishima, T., Ghosh, M., Menon, P.S., Deshmukh, D., Oddoux, C., Ostrer, H., Khan, S., Riazuddin, S., Deininger, P.L., Hampton, L.L., Sullivan, S.L., Battey, J.F., Keats, B.J., Wilcox, E.R., Friedman, T.B., Griffith, A.J. Nat. Genet. (2002) [Pubmed]
  36. Isolation and characterization of APLP2 encoding a homologue of the Alzheimer's associated amyloid beta protein precursor. Wasco, W., Gurubhagavatula, S., Paradis, M.D., Romano, D.M., Sisodia, S.S., Hyman, B.T., Neve, R.L., Tanzi, R.E. Nat. Genet. (1993) [Pubmed]
  37. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Kitao, S., Shimamoto, A., Goto, M., Miller, R.W., Smithson, W.A., Lindor, N.M., Furuichi, Y. Nat. Genet. (1999) [Pubmed]
  38. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Xia, J.H., Liu, C.Y., Tang, B.S., Pan, Q., Huang, L., Dai, H.P., Zhang, B.R., Xie, W., Hu, D.X., Zheng, D., Shi, X.L., Wang, D.A., Xia, K., Yu, K.P., Liao, X.D., Feng, Y., Yang, Y.F., Xiao, J.Y., Xie, D.H., Huang, J.Z. Nat. Genet. (1998) [Pubmed]
  39. High resolution localization of recombination hot spots using sperm typing. Hubert, R., MacDonald, M., Gusella, J., Arnheim, N. Nat. Genet. (1994) [Pubmed]
  40. Human chromosome 21 gene expression atlas in the mouse. Reymond, A., Marigo, V., Yaylaoglu, M.B., Leoni, A., Ucla, C., Scamuffa, N., Caccioppoli, C., Dermitzakis, E.T., Lyle, R., Banfi, S., Eichele, G., Antonarakis, S.E., Ballabio, A. Nature (2002) [Pubmed]
  41. Global changes in STAT target selection and transcription regulation upon interferon treatments. Hartman, S.E., Bertone, P., Nath, A.K., Royce, T.E., Gerstein, M., Weissman, S., Snyder, M. Genes Dev. (2005) [Pubmed]
  42. Molecular identification of human G-substrate, a possible downstream component of the cGMP-dependent protein kinase cascade in cerebellar Purkinje cells. Endo, S., Suzuki, M., Sumi, M., Nairn, A.C., Morita, R., Yamakawa, K., Greengard, P., Ito, M. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  43. Characterization of human 12-lipoxygenase genes. Funk, C.D., Funk, L.B., FitzGerald, G.A., Samuelsson, B. Proc. Natl. Acad. Sci. U.S.A. (1992) [Pubmed]
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