Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein 1

Mammalian Genome

Volumn 9, Issue 1, 1998, Pages 50-53

  Box, Neil F ^a   Wyeth, Jason R ^a   Mayne, Carol J ^b   O'Gorman, Louise E ^b   Martin, Nicholas G ^b   Sturm, Richard A ^a  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SEQUENCE; GENETIC POLYMORPHISM; HUMAN GENE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PROMOTER REGION;

BASE SEQUENCE; DNA, COMPLEMENTARY; HUMANS; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; OXIDOREDUCTASES; POLYMORPHISM, GENETIC; PROTEINS;

EID: 0031944118     PISSN: 09388990     EISSN: None     Source Type: Journal    
DOI: 10.1007/s003359900678     Document Type: Article

References (33)

1. Abdel-Malek Z, Swope V, Collins C, Boissy R, Zhao H, Nordlund J (1993) Contribution of melanogenic proteins to the heterogeneous pigmentation of human melanocytes. J Cell Sci 106, 1323-1331
2. Bell JA, Rinchik EM, Raymond S, Suffolk R, Jackson IJ (1995) A high-resolution map of the brown (b, Tyrp1) deletion complex of mouse Chromosome 4. Mamm Genome 6, 389-395
3. Boissy RE, Zhao H, Oetting WS, Austin LM, Wildenberg SC, Boissy YL, Zhao Y, Sturm RA, Hearing VJ, King RA, Nordlund JJ (1996) 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 58, 1145-1156
4. Box NF, Sturm RA (1994) Dinucleotide repeat polymorphism at the human TYRPI locus. Hum Mol Genet 3, 2270
5. Box NF, Wyeth JR, O'Gorman LE, Martin NG, Sturm RA (1997) Characterisation of melanocyte-stimulating hormone receptor variant alleles in twins with red hair. Hum Mol Genetics 11, 1891-1897.
6. Budd PS, Jackson IJ (1995) Structure of the mouse tyrosinase-related protein-2/Dopachrome tautomerase (Tyrp2/Dct) gene and sequence of two novel slaty alleles, Genomics 29, 25-43
7. del Marmol V, Beetmann F (1996) Tyrosinase and related proteins in mammalian pigmentation. FEBS Lett 381, 165-168
8. Giebel LB, Spritz RA (1990) RFLP for Mbol in the human tyrosinase (TYR) gene detected by PCR. Nucleic Acids Res 18, 3103
9. Hearing VJ (1993) Unraveling the melanocyte. Am J Hum Genet 52, 1-7
10. Jackson IJ (1994) Molecular and developmental genetics of mouse coat color. Ann Rev Genet 28, 189-217
11. Jackson IJ, Chambers DM, Budd PS, Johnson R (1991) The tyrosinase-related protein-1 gene has a structure and promoter sequence very different from tyrosinase. Nucleic Acids Res 19, 3799-3804
12. Jimenez 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
13. Jimenez-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 5.6-dihydroxyindole-2-carboxylic acid oxidase activity of tyrosinase-related protein-1 (TRP1). J Biol Chem 269, 17993-18001
14. Jurka J (1989) Subfamily structure and evolution of the human L1 family of repetitive sequences. J Mol Evol 29, 496-503
15. Jurka J, Milosavljevic A (1991) Reconstruction and analysis of human Alu genes. J Mol Evol 32, 105-121
16. Kobayashi T, Urabe K, Winder A, Jimenez-Cervantes C, Imokawa G, Brewington T, Solano F, Garcia-Borron JC, Hearing VJ (1994) Tyrosinase related protein-1 (TRP1) functions as a DHICA oxidase in melanin biosynthesis. EMBO J 13, 5818-5825
17. Li W-H, Sadler LA (1991) Low nucleotide diversity in man. Genetics 129, 513-523
18. Manga P, Kromberg J, Stevens G, Box NF, Sturm RA, Jenkins T, Ramsay M (1997) Rufous oculocutaneous albinism is caused by mutations in TYRPI in southern African Blacks. Am J Hum Genet, in press.
19. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16, 1215
20. 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
21. Oetting WS, King RA (1994) Analysis of tyrosinase mutations associated with tyrosinase-related oculocutaneous albinism (OCA1). Pigm Cell Res 7, 285-290
22. Robins AH (1991) Biological Perspectives on Human Pigmentation (Cambridge: Cambridge University Press)
23. Shibahara S, Taguchi H, Muller RM, Shibata K, Cohen T, Tomita Y, Tagami H (1991) Structural organization of the pigment cell-specific gene located at the brown locus in mouse. J Biol Chem 266, 15895-15901
24. Shibata K, Takeda K, Tomita Y, Tagami H, Shibahara S (1992) Down-stream region of the human tyrosinase-related protein gene enhances its promoter activity. Biochem Biophys Res Commun 184, 568-575
25. Spritz RA, Bailin T, Nicholls RD, Lee ST, Park SK, Mascari MJ, Butler MG (1997) Hypopigmentation in the Prader-Willi-Syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele. Am J Med Genet 71, 57-62
26. Sturm RA, O'Sullivan BJ, Thomson JAF, Jamshidi N, Pedley J, Parsons PG (1994) Expression studies of pigmentation and POU-domain genes in human melanoma cells. Pigm Cell Res 7, 235-240
27. Sturm RA, O'Sullivan BJ, Box NF, Smith AG, Smit SE, Puttick ERJ, Parsons PG, Dunn IS (1995) Chromosomal structure of the human TYRP1 and TYRP2 loci and comparison of the tyrosinase-related protein gene family. Genomics 29, 24-34
28. Wagstaff J, Hemann M (1995) A familial "balanced" 3;9 translocation with cryptic 8q insertion leading to deletion and duplication of 9p23 loci in siblings. Am J Hum Genet 56, 302-309
29. Wildenberg SC, King RA, Oetting WS (1995) Detection of a Tsp5091 polymorphism in the 3'UTR of the human tyrosinase related protein-1 (TYRP) gene. Hum Genet 95, 247
30. Winder A, Kobayashi T, Tsukamoto K, Urabe K, Aroca P, Kameyama K, Hearing VJ (1994) The tyrosinase gene family-interactions of melanogenic proteins to regulate melanogenesis. Cell Mol Biol Res 10, 613-626
31. 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
32. Winder AJ, Odh G, Rosengren E, Rorsman H (1995) Fibroblasts co-expressing tyrosinase and the b-protein synthesise both eumelanin and phaeomelanin. Biochim Biophys Acta 1268, 300-310
33. Yasumoto K, Yokoyama K, Takahashi K, Tomita Y, Shibahara S (1997) Functional analysis of microphthalmia-associated transcription factor in pigment cell-specific transcription of the human tyrosinase family genes. J Biol Chem 272, 503-509