Skip Navigation

This Article
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Spritz, R. A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Spritz, R. A.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, Vol 3, 1469-1475, Copyright © 1994 by Oxford University Press

REVIEWS

Molecular genetics of oculocutaneous albinism

RA Spritz
Department of Medical Genetics, University of Wisconsin, Madison 53706.

Albinism is a group of genetic disorders characterized by deficient synthesis of melanin pigment. In oculocutaneous albinism (OCA) the pigment deficiency involves the skin, hair, and eyes, whereas in ocular albinism (OA) the defect involves principally the visual system. Type I (tyrosinase-deficient) OCA results from deficient catalytic activity of tyrosinase, which catalyzes at least three steps in the melanin biosynthetic pathway. Type II (tyrosinase-positive) OCA results from abnormalities of the 'P' polypeptide, which may be a melanosomal tyrosine transporter. At least some forms of OA appear to represent mild presentations of types I and II OCA. The causes of several other forms of albinism have not yet been identified. Recent application of molecular genetic techniques to the study of these disorders has led to greatly improved knowledge of their molecular pathogenesis and relationships, and paves the way to improved diagnosis, carrier detection and prenatal diagnosis, and even to eventual treatment.
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Mol Biol EvolHome page
H. L. Norton, R. A. Kittles, E. Parra, P. McKeigue, X. Mao, K. Cheng, V. A. Canfield, D. G. Bradley, B. McEvoy, and M. D. Shriver
Genetic Evidence for the Convergent Evolution of Light Skin in Europeans and East Asians
Mol. Biol. Evol., March 1, 2007; 24(3): 710 - 722.
[Abstract] [Full Text] [PDF]

Home page
 FASEB J.Home page
K. TOYOFUKU, I. WADA, J. C. VALENCIA, T. KUSHIMOTO, V. J. FERRANS, and V. J. HEARING
Oculocutaneous albinism types 1 and 3 are ER retention diseases: mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild-type proteins
FASEB J, October 1, 2001; 15(12): 2149 - 2161.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
S. SAITOH, N. OISO, T. WADA, O. NARAZAKI, and K. FUKAI
Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome
J. Med. Genet., May 1, 2000; 37(5): 392 - 394.
[Full Text]

Home page
 QJMHome page
J.L. Rees and N. Flanagan
Pigmentation, melanocortins and red hair
QJM, March 1, 1999; 92(3): 125 - 131.
[Full Text] [PDF]

Home page
 Br J OphthalmolHome page
S. M CARDEN, R. E BOISSY, P. J SCHOETTKER, and W. V GOOD
Albinism: modern molecular diagnosis
Br J Ophthalmol, February 1, 1998; 82(2): 189 - 195.
[Full Text]

Home page
 Genes Dev.Home page
M A Bedell, D A Largaespada, N A Jenkins, and N G Copeland
Mouse models of human disease. Part II: recent progress and future directions.
Genes & Dev., January 1, 1997; 11(1): 11 - 43.
[PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.