Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Article
  • Published:

African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism

Nature Genetics volume 7, pages 176–179 (1994)Cite this article

Abstract

Oculocutaneous albinism (OCA) is a genetically heterogeneous hypopigmentation disorder. One of the two major autosomal recessive forms involves the tyrosinase gene (OCA1), while the other form (OCA2) has recently been associated with alterations of the P gene on chromosome 15. OCA2 is about twice as common as OCA1 in African and African–American populations. We now describe an interstitial deletion that removes a single exon of the P gene. In a large family from an inbred population of tri–racial origin, all individuals with OCA2 were found to be homozygous for this allele. Moreover, the same mutant P allele was detected in several unrelated African American individuals with OCA2, but not in Caucasians with OCA2. The detection of the same allele in two unrelated Africans with OCA2 indicates an African origin for this allele.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others

References

  1. Witkop, C.J. Jr., Hill, C.W., Desnick, S., Theis, J.K., Thorn, H.L. & Jenkins, M. Opthalmologic, biochemical, platelet and ultrastructural defects in the various types of oculocutaneous albinism. J. invest. Dermatol. 60, 443–456 (1973).

    Article  CAS  Google Scholar 

  2. Witkop, C.J. Jr., Nance, W.E., Rawls, R.F. & White, J.G. Autosomal recessive oculocutaneous albinism in man: evidence for genetic heterogeneity. Am. J. hum. Genet. 22, 55–74 (1970).

    CAS  PubMed  PubMed Central  Google Scholar 

  3. Witkop, C.J. Jr., Quevedo, W.C., Fitzpatrick, T.B. & King, R.A. in The metabolic basis of inherited diseases, 6th edn (eds C.R., Scriver, A.L., Beaudet, W.S., Sly & D., Valle) 2905–2947 (McGraw-Hill, New York, 1989).

    Google Scholar 

  4. Okoro, A.N. Albinism in Nigeria. Br. J. Dermatol. 92, 485–492 (1975).

    Article  CAS  Google Scholar 

  5. Aquaron, R. Oculocutaneous albinism In Cameroon: a 15-year follow-up study. Ophthalmic Paediat. Gen. 4, 255–263 (1990).

    Article  Google Scholar 

  6. Kromberg, J.G.R. & Jenkins, T. Prevalence of albinism in the South African Negro. S. Mr. Med. J. 61, 383–386 (1982).

    CAS  Google Scholar 

  7. Witkop, C.J. Jr., Niswander, J.D., Bergsma, D.R., Workman, P.L. & White, J.G. Tyrosinase positive oculocutaneous albinism among the Zuni and the Brandywine triracial isolate: biochemical and clinical characteristics and fertility. Am. J. phys. Anthropol. 36, 397–405 (1972).

    Article  Google Scholar 

  8. Silvers, W.K. The coat colors of mice (Springer-Verlag, New York, 1979).

    Book  Google Scholar 

  9. Russell, E.S. A quantitative histological study of the pigment found in the coat-color mutants of the house mouse.lV. The nature of the effects of genie substitution in five major allelic series. Genetics 34, 146–166 (1949).

    PubMed  PubMed Central  Google Scholar 

  10. Hearing, V.J., Phillips, P. & Lutzner, M.A. The fine structure of melanosomes in coat color mutants of the mouse. J. Ult. Res. 43, 88–106 (1973).

    Article  CAS  Google Scholar 

  11. Gardner, J.M. et al. The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman Syndromes. Science 257, 1121–1124 (1992).

    Article  CAS  Google Scholar 

  12. Rinchik, E.M. et al. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 361, 72–76 (1993).

    Article  CAS  Google Scholar 

  13. Ramsay, M. et al. The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2–q12. Am. J. hum. Gen. 51, 879–884 (1992).

    CAS  Google Scholar 

  14. Lee, S-T. et al. Mutations of the P gene in oculocutaneous albinism, ocular albinism and Prader-Willi syndrome plus albinism. New Engl. J. Med. 330, 529–534 (1994).

    Article  CAS  Google Scholar 

  15. Pearson, W.R. & Lipman, D.J. Improved tools for biological sequence comparison. Proc. natn. Acad. Sci. U.S.A. 85, 2444–2448 (1988).

    Article  CAS  Google Scholar 

  16. Brilliant, M.H., Gondo, Y. & Eicher, E. Direct molecular identification of the mouse pink-eyed unstable mutation by genome scanning. Science 252, 566–569 (1991).

    Article  CAS  Google Scholar 

  17. Church, G.M. & Gilbert, W. Genomic Sequencing. Proc. natn. Acad. Sci. U.S.A. 81, 1991–1995 (1988).

    Article  Google Scholar 

  18. Sanger, F., Niklen, S. & Coulson, A.R. DNA sequencing with chain-terminating inhibitors. Proc. natn. Acad. Sci. U.S.A. 74, 5463–5467 (1977).

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, Pennsylvania, 19111, USA

    D. Durham-Pierre, J. M. Gardner, Y. Nakatsu, A. Ching & M. H. Brilliant

  2. Departments of Medicine and Pediatrics,

    R. A. King

  3. Institute of Human Genetics, University of Minnesota, Minneapolis, Minnesota, 55455, USA

    R. A. King

  4. Departments of Genetics and Pediatrics,

    U. Francke

  5. Howard Hughes Medical Institute, Stanford University Medical Center, Stanford, California, 94305, USA

    U. Francke

  6. Biological Laboratory, Children's Hospital, Marseille, France

    R. Aquaron

  7. L.O.C.E., Institute J. Bordet, Brussels, Belgium

    V. del Marmol

Authors
  1. D. Durham-Pierre
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. J. M. Gardner
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Y. Nakatsu
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. R. A. King
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. U. Francke
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. A. Ching
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. R. Aquaron
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. V. del Marmol
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. M. H. Brilliant
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Durham-Pierre, D., Gardner, J., Nakatsu, Y. et al. African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. Nat Genet 7, 176–179 (1994). https://doi.org/10.1038/ng0694-176

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1038/ng0694-176

This article is cited by

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing