Abstract
The complete 24,667 nucleotide sequence spanning the human TYRP1 gene has been determined from the inserts of two overlapping lambda clones. A LINE-1 repeat element is immediately adjacent to and may demarcate the immediate 5′ promoter region of the gene. A search for polymorphism within the seven TYRP1 coding exons has been performed by an RNase mismatch detection procedure. Analysis of the TYRP1 gene in 100 Caucasian individuals of varying hair color has found no amino acid sequence variation nor revealed any hemizygous mutant allele in the hypopigmented phenotype of two 9p− syndrome patients.
Similar content being viewed by others
References
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
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
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
Box NF, Sturm RA (1994) Dinucleotide repeat polymorphism at the human TYRP1 locus. Hum Mol Genet 3, 2270
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.
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
del Marmol V, Beermann F (1996) Tyrosinase and related proteins in mammalian pigmentation. FEBS Lett 381, 165–168
Giebel LB, Spritz RA (1990) RFLP for Mbol in the human tyrosinase (TYR) gene detected by PCR. Nucleic Acids Res 18, 3103
Hearing VJ (1993) Unraveling the melanocyte. Am J Hum Genet 52, 1–7
Jackson IJ (1994) Molecular and developmental genetics of mouse coat color. Ann Rev Genet 28, 189–217
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
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
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
Jurka J (1989) Subfamily structure and evolution of the human L1 family of repetitive sequences. J Mol Evol 29, 496–503
Jurka J, Milosavljevic A (1991) Reconstruction and analysis of human Alu genes. J Mol Evol 32, 105–121
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
Li W-H, Sadler LA (1991) Low nucleotide diversity in man. Genetics 129, 513–523
Manga P, Kromberg J, Stevens G, Box NF, Sturm RA, Jenkins T, Ramsay M (1997) Rufous oculocutaneous albinism is caused by mutations in TYRP1 in southern African Blacks. Am J Hum Genet, in press.
Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16, 1215
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
S King RA (1994) Analysis of tyrosinase mutations associated with tyrosinase-related oculocutaneous albinism (OCA1). Pigm Cell Res 7, 285–290
Robins AH (1991) Biological Perspectives on Human Pigmentation (Cambridge: Cambridge University Press)
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
Shibata K, Takeda K, Tomita Y, Tagami H, Shibahara S (1992) Downstream region of the human tyrosinase-related protein gene enhances its promoter activity. Biochem Biophys Res Commun 184, 568–575
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
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
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
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
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
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
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
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
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
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Box, N.F., Wyeth, J.R., Mayne, C.J. et al. Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein 1. Mammalian Genome 9, 50–53 (1998). https://doi.org/10.1007/s003359900678
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/s003359900678