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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
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Disease relevance of Albinism


High impact information on Albinism

  • We focused on the trait of albinism and discovered that it is linked to Oca2, a known pigmentation gene, in two cave populations [6].
  • Since this gene with the coding capacity for tyrosinase is absent in all studied c-locus lethal deletion mutant mice, we have evidence that albinism in mice is caused by mutations of the tyrosinase gene [7].
  • The Hermansky-Pudlak syndrome consists of tyrosine-positive albinism, a defect in the second phase of platelet aggregation, and widespread accumulation of a ceroidlike pigment in tissue [8].
  • OCA3 (MIM 203290), a rare form of OCA and also known as "rufous/red albinism," is associated with mutations in TYRP1 (encoding tyrosinase-related protein 1) [9].
  • Granulophysin levels were only low in forms of delta-SPD associated with albinism [10].

Chemical compound and disease context of Albinism

  • Melanogenesis is regulated in large part by tyrosinase (monophenol monooxygenase; monophenol, L-dopa:oxygen oxidoreductase, EC, and defective tyrosinase leads to albinism [11].
  • Neither the history of previous light exposure, albinism, nor elevated circulating testosterone levels could account for the interstrain difference in mean tau DD [12].
  • The pineal hormone melatonin and the melanocyte-stimulating hormone inhibitory factor may be etiologic determinants of psychosis associated with albinism [13].
  • Identification of compounds that bind mitochondrial F1F0 ATPase by screening a triazine library for correction of albinism [14].
  • Tyrosinase, the primary enzyme in melanin synthesis commonly mutated in albinism, oxidizes l-tyrosine to l-dopaquinone using l-3,4-dihydroxyphenylalanine (L-DOPA) as an intermediate product [15].

Biological context of Albinism

  • Aside from the albinism in the proband, his phenotype and that of his normally pigmented father is otherwise normal, suggesting that this TYR deletion does not involve other functionally important contiguous genes [16].
  • Our findings provide insights into the genetics of albinism and HPS in PR, and provide the basis for genetic screening for these disorders in this minority population [17].
  • Hermansky-Pudlak syndrome is a multisystem disorder with albinism, bleeding diathesis and visual impairment as the main features [18].
  • BACKGROUND: Studies using the long-sleep (LS) X short-sleep (SS) (LSXSS) recombinant inbred mice and inbred long-sleep (ILS) by inbred short-sleep (ISS) intercrosses have found genetic linkage between Tyr albinism (c/c) and differential sensitivity to sedative-hypnotic doses of ethanol and general anesthetics [19].
  • Strain distribution studies showed that Ly-21.2 is present in all strains examined, including B10, except the A strain and segregation analysis of (A/J x B10) F2 mice showed that Ly-21.2 expression (1) is encoded by one gene and (2) is linked to albinism on chromosome 7 [20].

Anatomical context of Albinism


Gene context of Albinism

  • All eight patients have mild symptoms of HPS; two Jewish patients had received the diagnosis of ocular, rather than oculocutaneous, albinism [25].
  • RESULTS: Differently from other albinism models, Tyr activity was not impaired in Oa1-/- eyes [26].
  • Although this QTL is tightly linked to Tyr, propofol sensitivity is not modulated by albinism [27].
  • The lack of specificity for calnexin interaction reveals a novel role for calreticulin in OCAI albinism [28].
  • D12S53E is a likely candidate gene for some cases of human oculocutaneous albinism not associated with known albinism loci [29].

Analytical, diagnostic and therapeutic context of Albinism


  1. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3". Boissy, R.E., Zhao, H., Oetting, W.S., Austin, L.M., Wildenberg, S.C., Boissy, Y.L., Zhao, Y., Sturm, R.A., Hearing, V.J., King, R.A., Nordlund, J.J. Am. J. Hum. Genet. (1996) [Pubmed]
  2. Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome. Hazelwood, S., Shotelersuk, V., Wildenberg, S.C., Chen, D., Iwata, F., Kaiser-Kupfer, M.I., White, J.G., King, R.A., Gahl, W.A. Am. J. Hum. Genet. (1997) [Pubmed]
  3. Molecular mechanisms for mammalian melanogenesis. Comparison with insect cuticular sclerotization. Sugumaran, M. FEBS Lett. (1991) [Pubmed]
  4. Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. Jannot, A.S., Meziani, R., Bertrand, G., Gérard, B., Descamps, V., Archimbaud, A., Picard, C., Ollivaud, L., Basset-Seguin, N., Kerob, D., Lanternier, G., Lebbe, C., Saiag, P., Crickx, B., Clerget-Darpoux, F., Grandchamp, B., Soufir, N., Melan-Cohort, n.u.l.l. Eur. J. Hum. Genet. (2005) [Pubmed]
  5. Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1. Tsilou, E.T., Rubin, B.I., Reed, G.F., McCain, L., Huizing, M., White, J., Kaiser-Kupfer, M.I., Gahl, W. Ophthalmology (2004) [Pubmed]
  6. Genetic analysis of cavefish reveals molecular convergence in the evolution of albinism. Protas, M.E., Hersey, C., Kochanek, D., Zhou, Y., Wilkens, H., Jeffery, W.R., Zon, L.I., Borowsky, R., Tabin, C.J. Nat. Genet. (2006) [Pubmed]
  7. Functional analysis of alternatively spliced tyrosinase gene transcripts. Müller, G., Ruppert, S., Schmid, E., Schütz, G. EMBO J. (1988) [Pubmed]
  8. Hermansky-Pudlak syndrome with granulomatous colitis. Schinella, R.A., Greco, M.A., Cobert, B.L., Denmark, L.W., Cox, R.P. Ann. Intern. Med. (1980) [Pubmed]
  9. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Newton, J.M., Cohen-Barak, O., Hagiwara, N., Gardner, J.M., Davisson, M.T., King, R.A., Brilliant, M.H. Am. J. Hum. Genet. (2001) [Pubmed]
  10. Quantification of a novel dense granule protein (granulophysin) in platelets of patients with dense granule storage pool deficiency. Shalev, A., Michaud, G., Israels, S.J., McNicol, A., Singhroy, S., McMillan, E.M., White, J.G., Witkop, C.J., Nichols, W.L., Greenberg, A.H. Blood (1992) [Pubmed]
  11. Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity. Halaban, R., Moellmann, G. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  12. Circadian timekeeping in BALB/c and C57BL/6 inbred mouse strains. Schwartz, W.J., Zimmerman, P. J. Neurosci. (1990) [Pubmed]
  13. Albinism and schizophreniform psychosis: a pedigree study. Baron, M. The American journal of psychiatry. (1976) [Pubmed]
  14. Identification of compounds that bind mitochondrial F1F0 ATPase by screening a triazine library for correction of albinism. Williams, D., Jung, D.W., Khersonsky, S.M., Heidary, N., Chang, Y.T., Orlow, S.J. Chem. Biol. (2004) [Pubmed]
  15. Ectopic expression of tyrosine hydroxylase in the pigmented epithelium rescues the retinal abnormalities and visual function common in albinos in the absence of melanin. Lavado, A., Jeffery, G., Tovar, V., de la Villa, P., Montoliu, L. J. Neurochem. (2006) [Pubmed]
  16. Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene. Schnur, R.E., Sellinger, B.T., Holmes, S.A., Wick, P.A., Tatsumura, Y.O., Spritz, R.A. J. Invest. Dermatol. (1996) [Pubmed]
  17. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. Santiago Borrero, P.J., Rodríguez-Pérez, Y., Renta, J.Y., Izquierdo, N.J., Del Fierro, L., Muñoz, D., Molina, N.L., Ramírez, S., Pagán-Mercado, G., Ortíz, I., Rivera-Caragol, E., Spritz, R.A., Cadilla, C.L. J. Invest. Dermatol. (2006) [Pubmed]
  18. Hermansky-Pudlak syndrome in a pregnant patient. Poddar, R.K., Coley, S., Pavord, S. British journal of anaesthesia. (2004) [Pubmed]
  19. No effect of albinism on sedative-hypnotic sensitivity to ethanol and anesthetics. Rikke, B.A., Simpson, V.J., Montoliu, L., Johnson, T.E. Alcohol. Clin. Exp. Res. (2001) [Pubmed]
  20. A new murine lymphocyte alloantigen, Ly-21.2, mapping to the seventh chromosome. Kennard, J., Meruelo, D. Immunogenetics (1982) [Pubmed]
  21. Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron. Feng, G.H., Bailin, T., Oh, J., Spritz, R.A. Hum. Mol. Genet. (1997) [Pubmed]
  22. Translation rate of human tyrosinase determines its N-linked glycosylation level. Ujvari, A., Aron, R., Eisenhaure, T., Cheng, E., Parag, H.A., Smicun, Y., Halaban, R., Hebert, D.N. J. Biol. Chem. (2001) [Pubmed]
  23. Hermansky-Pudlak syndrome: case report and clinicopathologic review. Schachne, J.P., Glaser, N., Lee, S.H., Kress, Y., Fisher, M. J. Am. Acad. Dermatol. (1990) [Pubmed]
  24. Electrophysiologic evidence for normal optic nerve fiber projections in normally pigmented squinters. McCormack, G.L. Investigative ophthalmology. (1975) [Pubmed]
  25. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Huizing, M., Anikster, Y., Fitzpatrick, D.L., Jeong, A.B., D'Souza, M., Rausche, M., Toro, J.R., Kaiser-Kupfer, M.I., White, J.G., Gahl, W.A. Am. J. Hum. Genet. (2001) [Pubmed]
  26. The ocular albinism type 1 (OA1) gene controls melanosome maturation and size. Cortese, K., Giordano, F., Surace, E.M., Venturi, C., Ballabio, A., Tacchetti, C., Marigo, V. Invest. Ophthalmol. Vis. Sci. (2005) [Pubmed]
  27. Identification of a genetic region in mice that specifies sensitivity to propofol. Simpson, V.J., Rikke, B.A., Costello, J.M., Corley, R., Johnson, T.E. Anesthesiology (1998) [Pubmed]
  28. Soluble tyrosinase is an endoplasmic reticulum (ER)-associated degradation substrate retained in the ER by calreticulin and BiP/GRP78 and not calnexin. Popescu, C.I., Paduraru, C., Dwek, R.A., Petrescu, S.M. J. Biol. Chem. (2005) [Pubmed]
  29. Genomic organization and sequence of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus. Bailin, T., Lee, S.T., Spritz, R.A. J. Invest. Dermatol. (1996) [Pubmed]
  30. Expression of tyrosinase gene in amelanotic mutant mice. Takeuchi, S., Yamamoto, H., Takeuchi, T. Biochem. Biophys. Res. Commun. (1988) [Pubmed]
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