A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse - PubMed (original) (raw)

Case Reports

A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse

L B Giebel et al. J Clin Invest. 1991 Mar.

Abstract

Type I oculocutaneous albinism (OCA) is an autosomal recessive disorder in which deficient synthesis of melanin pigment results from abnormal activity of melanocyte tyrosinase. A novel type I OCA phenotype in which hypopigmentation is related to local body temperature is associated with a missense substitution in tyrosinase, codon 422 CGG (Arg)----CAG (Gln). This substitution results in a tyrosinase polypeptide that is temperature-sensitive. This form of type I OCA thus is homologous to the temperature-related forms of albinism seen in the Siamese cat and the Himalayan mouse.

PubMed Disclaimer

Similar articles

• Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism.
  King RA, Townsend D, Oetting W, Summers CG, Olds DP, White JG, Spritz RA. King RA, et al. J Clin Invest. 1991 Mar;87(3):1046-53. doi: 10.1172/JCI115064. J Clin Invest. 1991. PMID: 1900307 Free PMC article.
• Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.
  Tripathi RK, Strunk KM, Giebel LB, Weleber RG, Spritz RA. Tripathi RK, et al. Am J Med Genet. 1992 Jul 15;43(5):865-71. doi: 10.1002/ajmg.1320430523. Am J Med Genet. 1992. PMID: 1642278
• A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1).
  Nakamura E, Miyamura Y, Matsunaga J, Kano Y, Dakeishi-Hara M, Tanita M, Kono M, Tomita Y. Nakamura E, et al. J Dermatol Sci. 2002 Feb;28(2):102-5. doi: 10.1016/s0923-1811(01)00141-4. J Dermatol Sci. 2002. PMID: 11858948
• Tyrosinase gene mutations causing oculocutaneous albinisms.
  Tomita Y. Tomita Y. J Invest Dermatol. 1993 Feb;100(2 Suppl):186S-190S. J Invest Dermatol. 1993. PMID: 8433007 Review.
• [Human oculocutaneous albinism. From clinical observation to molecular biology].
  Aquaron R. Aquaron R. Bull Soc Pathol Exot. 1993;86(5):313-26. Bull Soc Pathol Exot. 1993. PMID: 8124097 Review. French.

Cited by

• Thermal Adaptations in Animals: Genes, Development, and Evolution.
  Agata A, Nomura T. Agata A, et al. Adv Exp Med Biol. 2024;1461:253-265. doi: 10.1007/978-981-97-4584-5_18. Adv Exp Med Biol. 2024. PMID: 39289287 Review.
• Genetic Linkage between CAPN5 and TYR Variants in the Context of Albinism and Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Absence: A Case Report.
  Bjeloš M, Ćurić A, Bušić M, Rak B, Kuzmanović Elabjer B. Bjeloš M, et al. Int J Mol Sci. 2024 Jun 11;25(12):6442. doi: 10.3390/ijms25126442. Int J Mol Sci. 2024. PMID: 38928147 Free PMC article.
• Mocha tyrosinase variant: a new flavour of cat coat coloration.
  Yu Y, Grahn RA, Lyons LA. Yu Y, et al. Anim Genet. 2019 Apr;50(2):182-186. doi: 10.1111/age.12765. Epub 2019 Feb 4. Anim Genet. 2019. PMID: 30716167 Free PMC article.
• Purification of Recombinant Human Tyrosinase from Insect Larvae Infected with the Baculovirus Vector.
  Dolinska MB, Wingfield PT, Sergeev YV. Dolinska MB, et al. Curr Protoc Protein Sci. 2017 Aug 1;89:6.15.1-6.15.12. doi: 10.1002/cpps.37. Curr Protoc Protein Sci. 2017. PMID: 28762492 Free PMC article.
• Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.
  Shahzad M, Yousaf S, Waryah YM, Gul H, Kausar T, Tariq N, Mahmood U, Ali M, Khan MA, Waryah AM, Shaikh RS, Riazuddin S, Ahmed ZM; University of Washington Center for Mendelian Genomics (UW CMG) Consortium. Shahzad M, et al. Sci Rep. 2017 Mar 7;7:44185. doi: 10.1038/srep44185. Sci Rep. 2017. PMID: 28266639 Free PMC article. Clinical Trial.

References

1. 1. Am J Hum Genet. 1991 Feb;48(2):318-24 - PubMed
2. 1. Anal Biochem. 1977 Dec;83(2):346-56 - PubMed
3. 1. Science. 1988 Jan 29;239(4839):487-91 - PubMed
4. 1. J Exp Med. 1989 Jun 1;169(6):2029-42 - PubMed
5. 1. Biochim Biophys Acta. 1989 Dec 22;1009(3):283-6 - PubMed

Publication types

MeSH terms

Substances

LinkOut - more resources

• Full Text Sources

  • American Society for Clinical Investigation
  • Europe PubMed Central
  • PubMed Central

• Other Literature Sources

  • The Lens - Patent Citations Database

• Molecular Biology Databases

  • GlyGen glycoinformatics resource

• Miscellaneous

  • NCI CPTAC Assay Portal