Rufous oculocutaneous albinism in Southern African blacks is caused by mutations in the TYRP1 gene

American Journal of Human Genetics

Volumn 61, Issue 5, 1997, Pages 1095-1101

  Manga, P ^a   Kromberg, J G R ^a   Box, N F ^b   Sturm, R A ^b   Jenkins, T ^a   Ramsay, M ^a,c  

^a UNIVERSITY OF THE WITWATERSRAND   (South Africa)

^b UNIVERSITY OF QUEENSLAND   (Australia)

^c NONE   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 17; CLINICAL ARTICLE; ETHNOLOGY; GENE LOCATION; GENETIC LINKAGE; HUMAN; NONSENSE MUTATION; OCULOCUTANEOUS ALBINISM; PATHOGENESIS; PRIORITY JOURNAL; SOUTH AFRICA;

BOCA; OXALIS TUBEROSA;

EID: 0030828856     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301603     Document Type: Article

References (36)

1. Barton DE, Kwon BS, Francke U (1988) Human tyrosinase gene, mapped to chromosome 11(q14-q21), defines a second region of homology with mouse chromosome 7. Genomics 3:17-24
2. Boissy RE, Zhao H, Oetting WS, Austin LM, Wildenberg SC, Boissy YL, Zhao Y, et al (1996) Mutations 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 58:1145-1156
3. Bouchard B, Del Marmol V, Jackson IJ, Cherif D, Dubertret L (1994) Molecular characterisation of a human tyrosinase-related protein-2 cDNA: patterns of expression in melanocytic cells. Eur J Biochem 15:127-134
4. Box NF, Sturm RA (1994a) Compound dinucleotide repeat polymorphism at the human TYRP2 locus: accession no 381759. Genome Database http://www.gdb.org/
5. _ (1994b) Dinucleotide repeat polymorphism at the human TYRP1 locus. Hum Mol Genet 3:2270
6. Chintamaneni CD, Ramsay M, Colman M-A, Fox MF, Pickard RT, Kwon BS (1991) Mapping of the human CAS2 gene, the homologue of the mouse brown (b) locus, to human chromosome 9p22-pter. Biochem Biophys Res Commun 179:227-235
7. Durham-Pierre D, Gardner JM, Nakatsu Y, King RA, Francke U, Ching A, Aquaron R, et al (1994) African origin of an intragenic deletion of the human P gene in tyrosinase-positive oculocutaneous albinism. Nat Genet 7:176-179
8. Halaban R, Moellmann GE (1990) Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity. Proc Natl Acad Sci USA 87:4809-4813
9. Jackson IJ (1988) A cDNA encoding tyrosinase-related protein maps to the brown locus in mice. Proc Natl Acad Sci USA 85:4392-4396
10. Jiménez M, Tsukamoto K, Hearing VJ (1991) Tyrosinases from two different loci are expressed by normal and by transformed melanocytes. J Biol Chem 266:1147-1156
11. Jiménez-Cervantes C, Garcia-Borrón JC, Valverde P, Solano F, Lozano JA (1993) Tyrosinase isoenzymes in mammalian melanocytes. I. Biochemical characterization of two melanosomal tyrosinases from B16 mouse melanoma. Eur J Biochem 217:549-556
12. Jiménez-Cervantes C, Solano F, Kobayashi T, Urabe K, Hearing VJ, Lozano JA, Garcia-Borron JC (1994) A new enzymatic function in the melanogenic pathway: the DHICA oxidase activity of tyrosinase-related protein-1 (TRP1). J Biol Chem 269:17993-18001
13. Kedda MA, Stevens G, Manga P, Viljoen C, Jenkins T, Ramsay M (1994) The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African Negroids. Am J Hum Genet 54:1078-1084. (Erratum [1994] Am J Hum Genet 55:602)
14. Kidson SH, Richards PDG, Rawoot F, Kromberg JGR (1993) An ultrastructural study of melanocytes and melanosomes in the skin and hair bulbs of rufous albinos. Pigment Cell Res 6:209-214
15. King RA, Creel D, Cervenka J, Okoro AN, Witkop CJ (1980) Albinism in Nigeria with delineation of a new oculocutaneous type. Clin Genet 17:259-270
16. King RA, Hearing VJ, Creel DJ, Oetting WS (1994) Albinism. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited diseases, 7th ed. Vol 2. McGraw-Hill, New York, pp 4353-4392
17. King RA, Lewis RA, Townsend D, Zelickson A, Olds DP, Brumbaugh J (1985) Brown oculocutaneous albinism: clinical, ophthalmological and biochemical characterization. Ophthalmology 92:1496-1498
18. Kromberg JGR, Castle D, Zwane EM, Jenkins T (1990) Red or rufous albinism in southern Africa. Ophthalmic Paediatr Genet 11:229-235
19. Kromberg JGR, Jenkins T (1982) Prevalence of albinism in the South African Negro. S Afr Med J 61:383-386
20. Manga P, Ramsay M, Kromberg J, Jenkins T (1994) Brown oculocutaneous albinism is allelic to tyrosinase-positive oculocutaneous albinism in southern African Negroids. Am J Hum Genet Suppl 55:A194
21. Morris CD, Muir W, St Clair D (1991) Dinucleotide repeat polymorphism at the human tyrosinase gene. Nucleic Acids Res 19:6968
22. Murty VVVS, Bouchard B, Mathew S, Vijayasaradhi S, Houghton AN (1992) Assignment of the human TYRP (brown) locus to chromosome region 9p23 by nonradioactive in situ hybridization. Genomics 13:227-229
23. A receptor b3 (GABRB3) locus in the Angelman Prader-Willi (AS/PWS) region of chromosome 15. Hum Mol Genet 1:67
24. Pearson K, Nettleship E, Usher CH (1911) A monograph on albinism in man: Draper's company research memoirs. Biometrie series VI. Dlau, London
25. Ramsay M, Colman M-A, Stevens G, Zwane E, Kromberg J, Farrall M, Jenkins T (1992) The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12. Am J Hum Genet 51:879-884
26. Rinchik EM, Bultman SJ, Horsthemke B, Strunk KM, Spritz RA, Avidano KM, Jong MTC, et al (1993) A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 361:72-76
27. Spritz RA, Hearing VJ (1994) Genetic disorders of pigmentation. In: Harris H, Hirschbhorn K (eds) Advances in human genetics. Vol 22. Plenum Press, New York, pp 1-45
28. Stannus HS (1913) Anomalies of pigmentation among natives of Nyasaland. Biometrika 9:333-365
29. Stevens G, van Beukering J, Jenkins T, Ramsay M (1995) An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids. Am J Hum Genet 56:586-591
30. Sturm RA, Baker E, Sutherland GR (1994) Assignment of the tyrosinase-related protein-2 (TYRP2) to human chromosome 13q31-q32 by fluorescence in situ hybridization: extended synteny with mouse chromosome 14. Genomics 21: 293-296
31. Sturm RA, O'Sullivan BJ, Box NF, Smith AG, Smith SE, Puttick ERJ, Parsons PG, et al (1995) Chromosomal structure of the human TYRP1 and TYRP2 loci and comparison of the tyrosinase-related protein gene family. Genomics 29:24-34
32. Wallace ME (1953) A case of mutual reduction of dominance: observed in Mus musculus. Heredity 7:435-437
33. Walsh RJ (1971) A distinctive pigment of the skin in New Guinea indigenes. Ann Hum Genet 34:379-388
34. Weber JL, May PE (1990) Dinucleotide repeat polymorphism at the D9S43 locus. Nucleic Acids Res 18:2203
35. Wildenberg SC, King RA, Oetting WS (1995) Detection of a Tsp509I polymorphism in the 3′ UTR of the human tyrosinase related protein-1 (TYRP) gene. Hum Genet 95:247
36. Winder AJ, Wittbjer A, Rosengren E, Rorsman H (1993) The mouse brown (b) locus protein has dopachrome tautomerase activity and is located in lysosomes in transfected fibroblasts. J Cell Sci 106:153-166