Retina International's Scientific Newsletter
	Mutation Database Mutations of the P-Gene

Recent update from: 13.11.2002

References

1. Akey,J.M., Wang,H., Xiong,M., Wu,H., Liu,W., Shriver,M.D., and Jin,L. Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population. 2001; Hum.Genet. 108: 516-520.
   Link to PubMed
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2. Durham Pierre,D., Gardner,J.M., Nakatsu,Y., King,R.A., Francke,U., Ching,A., Aquaron,R., del Marmol,V., and Brilliant,M.H. African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. 1994; Nat.Genet. 7: 176-179.
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3. Kerr,R., Stevens,G., Manga,P., Salm,S., John,P., Haw,T., and Ramsay,M. Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. 2000; Hum.Mutat. 15: 166-172.
   Link to PubMed
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4. Lee,S.T., Nicholls,R.D., Bundey,S., Laxova,R., Musarella,M., and Spritz,R.A. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. 1994; N.Engl.J.Med. 330: 529-534.
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5. Lee,S.T., Nicholls,R.D., Jong,M.T., Fukai,K., and Spritz,R.A. Organization and sequence of the human P gene and identification of a new family of transport proteins. 1995; Genomics. 26: 354-363.
   Link to PubMed
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6. Lee,S.T., Nicholls,R.D., Schnur,R.E., Guida,L.C., Lu Kuo,J., Spinner,N.B., Zackai,E.H., and Spritz,R.A. Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). 1994; Hum.Mol.Genet. 3: 2047-2051.
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7. Manga,P., Kromberg,J.G., Turner,A., Jenkins,T., and Ramsay,M. In Southern Africa, Brown Oculocutaneous Albinism (BOCA) Maps to the OCA2 Locus on Chromosome 15q: P-Gene Mutations Identified. 2001; Am.J.Hum.Genet. 68: 782-787.
   Link to PubMed
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8. Oetting,W.S., Gardner,J.M., Fryer,J.P., Ching,A., Durham Pierre,D., King,R.A., and Brilliant,M.H. Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). 1998; Hum.Mutat. 12: 434
   Link to PubMed
   Human Mutation Online
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9. Oetting,W.S. and King,R.A. Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. 1999; Hum.Mutat. 13: 99-115.
   Link to PubMed
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10. Passmore,L., Kaesmann-Kellner,B., and Weber,B.H.F. Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. 1999; Hum.Genet. 105: 200-210.
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11. Spritz,R.A., Fukai,K., Holmes,S.A., and Luande,J. Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2). 1995; Am.J.Hum.Genet. 56: 1320-1323.
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12. Spritz,R.A., Lee,S.T., Fukai,K., Brondum Nielsen,K., Chitayat,D., Lipson,M.H., Musarella,M.A., Rosenmann,A., and Weleber,R.G. Novel mutations of the P gene in type II oculocutaneous albinism (OCA2). 1997; Hum.Mutat. 10: 175-177.
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Contact the editor	Return to Database Page	This site is maintained and edited by Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Pediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz