Skip to main content
SpringerLink
Log in

Oculocutaneous Albinism

  • Chapter
Book cover Principles of Molecular Medicine

Abstract

In the premolecular biology era, there were two major clinical forms of oculocutaneous albinism (OCA): tyrosinase-negative (ty-neg) and tyrosinase-positive (ty-pos). Tyrosinase is the key enzyme in the melanin biosynthetic pathway (Fig. 79-1), catalyzing three steps in the formation of melanin: (1) tyrosine to dopa (dihydroxyphenylalanine); (2) dopa to dopaquinone; and (3) 5,6-dihydroxyindole to indole-5,6-quinone. This categorization of patients was based primarily upon their clinical appearance with ty-neg patients having the most severe phenotype, i.e., white hair, gray-blue eyes, and pink skin at birth as well as throughout life. An additional diagnostic test was the incubation of anagen hair follicles with tyrosine to determine the presence (ty-pos) or absence (ty-neg) of melanin deposition.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 74.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Selected References

  • Bailin T, Oh J, Feng GH, Fukai K, Spritz RA. Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene. J Invest Dermatol 1997; 108: 923–927.

    Article  PubMed  CAS  Google Scholar 

  • Barbosa MDFS, Nguyen QA, Tchernev VT, et al. Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature 1996; 382: 262–265.

    Article  PubMed  CAS  Google Scholar 

  • Barrat FJ, Auloge L, Pastural E, et al. Genetic and physical mapping of the Chekiak-Higashi syndrome on chromosome 1q42–43. Am J Hum Genet 1996; 59: 625–632.

    PubMed  CAS  Google Scholar 

  • Bassi MT, Schiaffino MV, Renieri A, et al. Cloning of the gene for ocular albinism type I from the distal short arm of the X chromosome. Nature Genet 1995; 10: 13–19.

    Article  PubMed  CAS  Google Scholar 

  • Boissy RE, Zhao H, Oetting WS, et al. 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”. Am J Hum Genet 1996; 58: 1145–1156.

    PubMed  CAS  Google Scholar 

  • Bolognia JL, Shapiro PE. Albinism and other disorders of hypo-pigmentation. In: Arndt KA, LeBoit PE, Robinson JK, Wintrobe BU, eds. Cutaneous Medicine and Surgery: An Integrated Program in Dermatology. Philadelphia: Saunders, 1995; pp. 1219–1232.

    Google Scholar 

  • del Marmol V, Beermann F. Tyrosinase and related proteins in mammalian pigmentation. FEBS 1996; 381: 165–168.

    Article  CAS  Google Scholar 

  • Durham-Pierre D, Gardner JM, Nakatsu Y, et al. African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. Nature Genet 1994; 7: 176–179.

    Article  PubMed  CAS  Google Scholar 

  • Falik-Borenstein TC, Holmes SA, Borochowitz Z, Levin A, Rosenmann A, Spritz RA. DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCAIA). Prenatal Diagnosis 1995; 15: 345–349.

    Article  PubMed  CAS  Google Scholar 

  • Feng GH, Bailin T, Oh J, Spritz RA. Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare AT-AC’ intron. Hum Mol Genet 1997; 6: 793–797.

    Article  PubMed  CAS  Google Scholar 

  • Fukai K, Holmes SA, Lucchese NJ, et al. Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. Nature Genet 1995; 9: 92–95.

    Article  PubMed  CAS  Google Scholar 

  • Fukai K, Oh J, Karim MA, et al. Homozygosity mapping of the gene for Cheiak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg). Am J Hum Genet 1996; 59: 620–624.

    PubMed  CAS  Google Scholar 

  • Gahl WA, Pottere B, Durham-Pierre, Brilliant MH, Hearing VJ. Melanosomal tyrosine transport in normal and pink-eyed dilution murine melanocytes. Pigment Cell Res 1995; 8: 229–233.

    Article  PubMed  CAS  Google Scholar 

  • Giebel LB, Spritz RA. The molecular basis of type I (tyrosinase-deficient) human oculocutaneous albinism. Pig Cell Res 1992; 2 (Suppl): 101–106.

    CAS  Google Scholar 

  • Giebel LB, Tripathi RK, King RA, Spritz RA. A tyrosinase gene mis sense mutation in temperature-sensitive type I oculocutaneous albinism. J Clin Invest 1991; 87: 1119–1121.

    Article  PubMed  CAS  Google Scholar 

  • King RA, Townsend D, Oetting W, et al. Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism. J Clin Invest 1991; 87: 1046–1053.

    Article  PubMed  CAS  Google Scholar 

  • Kobayashi T, Urabe K, Winder A, et al. DHICA oxidase activity of TRP 1 and interactions with other melanogenic enzymes. Pigment Cell Res 1994; 7: 227–234.

    Article  PubMed  CAS  Google Scholar 

  • Körner A, Pawelek J. Mammalian tyrosinase catalyzes three reactions in the biosynthesis of melanin. Science 1982; 217: 1163–1165.

    Article  PubMed  Google Scholar 

  • Kwon BS. Pigmentation genes: the tyrosinase gene family and pmel 17 gene family. J Invest Dermatol 1993; 100: 134S - 140S.

    Article  PubMed  CAS  Google Scholar 

  • Lee S-T, RD Nicholls, S. Bundey, Laxova R, Musarella M, Spritz RA. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med 1994; 330: 529–534.

    Article  PubMed  CAS  Google Scholar 

  • Lee S-T, Nicholls RD, Jong MTC, Fukai K, Spritz RA. Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics 1995; 26: 354–363.

    Article  PubMed  CAS  Google Scholar 

  • Luande J, Henschke CI, Mohammed N. The Tanzanian human albino skin. Natural history. Cancer 1985; 55: 1823–1828.

    Article  PubMed  CAS  Google Scholar 

  • Nagle DL, Karim MA, Woolf EA, et al. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nature Genet 1996; 14: 307–311.

    Article  PubMed  CAS  Google Scholar 

  • Oetting WS, King RA. Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene. Hum Mutation 1993; 2: 1–6.

    Article  CAS  Google Scholar 

  • Oetting WS, King RA. Analysis of tyrosinase mutations associated with tyrosinase-related oculocutaneous albinism (OCA!). Pig Cell Res 1994; 7: 285–290.

    Article  CAS  Google Scholar 

  • Oh J, Bailin T, Fukai K, et al. Positional cloning of a gene for HermanskyPudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet 1996; 14: 300–306.

    Article  PubMed  CAS  Google Scholar 

  • Rinchik EM, Bultman SJ, Horsthemke B, et al. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 1993; 361: 72–76.

    Article  PubMed  CAS  Google Scholar 

  • Rosemblatt S, Durham-Pierre D, Gardner JM, Nakatsu Y, Brilliant MH, Orlow SJ. Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene. Proc Natl Acad Sci USA 1994; 91: 12071–20075.

    Article  Google Scholar 

  • Shimizu H, Niizeki H, Suzumori K, et al. Prenatal diagnosis of oculocutaneous albinism by analysis of the fetal tyrosinase gene. J Invest Dermatol 1994; 103: 104–106.

    Article  PubMed  CAS  Google Scholar 

  • Spritz RA. Molecular genetics of oculocutaneous albinism. Hum Mol Genet 1994; 3: 1469–1475.

    PubMed  CAS  Google Scholar 

  • Spritz RA, Bailin T, Nicholls RD, et al. Hypopigmentation in the PraderWilli syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele. Am J Med Genet 1997; 71: 57–62.

    Article  PubMed  CAS  Google Scholar 

  • Spritz RA, Fukai K, Holmes SA, Luande J. Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2). Am J Hum Genet 1995; 56: 1320–1323.

    PubMed  CAS  Google Scholar 

  • Stevens G, Ramsay JM, Jenkins T. Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation. Hum Genet 1997; 99: 523–527.

    Article  PubMed  CAS  Google Scholar 

  • Wagstaff J, Hemann M. A familial “balanced” 3;9 translocation with cryptic 8q insertion leading to deletion and duplication of 9p23 loci in siblings. Am J Hum Genet 1995; 56: 302–309.

    PubMed  CAS  Google Scholar 

Download references

Authors
  1. Jean L. Bolognia
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University Medical School, Chicago, IL, USA

    J. Larry Jameson MD, PhD

Rights and permissions

Reprints and permissions

Copyright information

© 1998 Springer Science+Business Media New York

About this chapter

Cite this chapter

Bolognia, J.L. (1998). Oculocutaneous Albinism. In: Jameson, J.L. (eds) Principles of Molecular Medicine. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-59259-726-0_79

Download citation

  • DOI: https://doi.org/10.1007/978-1-59259-726-0_79

  • Publisher Name: Humana Press, Totowa, NJ

  • Print ISBN: 978-1-4757-6272-3

  • Online ISBN: 978-1-59259-726-0

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation