Chromosomal structure of the human TYRP1 and TYRP2 loci and comparison of the tyrosinase-related protein gene family

Genomics

Volumn 29, Issue 1, 1995, Pages 24-34

  Sturm, Richard A ^a   O’Sullivan, Brendan J ^a,b   Box, Neil F ^a   Smith, Aaron G ^a   Smit, Sonia E ^a   Puttick, Emma R J ^a   Parsons, Peter G ^b   Dunn, Ian S ^a  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 0029095104     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1995.1211     Document Type: Article

References (51)

1. Ausubel, F. M., Brent, R., Kingston, R. E., Moore, D. D., Seidman, J. G., Smith, J. A., and Struhl, K. (1989). "Current Protocols in Molecular Biology," Green Publishing and Wiley, New York.
2. Barton, D. E., Kwon, B. S., and Francke, U. (1988). Human tyrosinase gene mapped to chromosome 11 (ql4-q21) defines a second region of homology with mouse chromosome 7. Genomics 3: 17-24.
3. Bentley, N. J., Eisen, T., and Goding, C. R. (1994). Melanocyte-specific expression of the human tyrosinase promoter: Activation by the microphthalmia gene product and role of the initiator. Mol. Cell. Biol. 14: 7996-8006.
4. Bouchard, B., Del Marmol, V., Jackson, I. J., Cherif, D., and Duber-tret, L. (1994). Molecular characterization of a human tyrosinase-related-protein-2 c DNA-Patterns of expression in melanocytic cells. Eur. J. Biochem. 219: 127-134.
5. Box, N. F., and Sturm, R. A. (1994). Dinucleotide repeat polymorphism at the human TYRP1 locus. Hum. Mol. Genet. 3: 2270.
6. Box, N. F., and Sturm, R. A. (1995). Compound dinucleotide repeat polymorphism at the human TYRP2 locus. Hum. Mol. Genet., in press (Genome Data Base: GOO-381-727).
7. Cassady, J. L., and Sturm, R. A. (1994). Sequence of the human dopachrome tautomerase-encoding TRP-2 c DNA. Gene 143: 295-298.
8. Cavener, D. R., and Ray, S. C. (1991). Eukaryotic start and stop translation site. Nucleic Acids Res. 19: 3185-3192.
9. Chintamaneni, C. D., Ramsay, M., Colman, M.-A., Fox, M. F., Pickard, R. T., and Kwon, B. S. (1991). Mapping the human CAS2 gene, the homologue of the mouse brown (b) locus, to human chromosome 9p22-pter. Biochem. Biophys. Res. Commun. 178: 227-235.
10. Cohen, T., Muller, R. M., Tomita, Y., and Shibahara, S. (1990). Nucleotide sequence of the c DNA encoding human tyrosinase-related protein. Nucleic Acids Res. 18: 2807-2808.
11. del Marmol, V., Ito, S., Jackson, I., Vachtenheim, J., Berr, P., Gha-nem, G., Morandini, R., Wakamatsu, K., and Huez, G. (1993). TRP-1 expression correlates with eumelanogenesis in human pigment cell in culture. FEBS Lett. 327: 307-310.
12. Feinberg, A. P., and Vogelstein, B. (1983). A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal. Biochem. 132:6-13.
13. Giebel, L. B., Strunk, K. M., and Spritz, R. A. (1991). Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment. Genomics 9: 435-445.
14. Hearing, V. J. (1993). Unraveling the melanocyte. Am. J. Hum. Genet. 52: 1-7.
15. Hemesath, T. J., Steingrimsson, E., Mc Gill, G., Hansen, M. J., Vaught, J., Hodgkinson, C. A., Amheiter, H., Copeland, N. G., Jenkins, N. A., and Fisher, D. E. (1994). microphthalmia, a critical factor in melanocyte development, development, defines a discrete transcription factor family. Genes Dev. 8: 2770-2780.
16. Hurst, L. D. (1994). The uncertain origin of introna. Nature 371: 381-382.
17. Jackson, I. J. (1991). A reappraisal of non-consensus m RNA splice sites. Nucleic Acids Res. 19: 3795-3798.
18. Jackson, I. J, (1994). Workshop report: Evolution and expression of tyrosinase-related proteins. Pigm. Cell Res. 7: 241-242.
19. Jackson, I. J., Chambers, D. M., Budd, P. S., and 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.
20. Jackson, I. J., Chambers, D. M., Tsukamoto, K., Copeland, N. G., Gilbert, D. J., Jenkins, N. A., and Hearing, V. (1992). A second tyrosinase-related protein, TRP-2, maps to and is mutated at the mouse slaty locus. EMBO J. 11: 527-535.
21. Jimenez-Cervantes, C., Solano, F., Kobayashi, T., Urabe, K., Hearing, V. J., Lozano, J. A., and Garcia-Borron, J. C. (1994). A new enzymatic function in the melanogenic pathway-The 5, 6-dihy-droxyindole-2-carboxylic acid oxidase activity of tyrosinase-related protein-1 (TRP1). J. Biol. Chem. 269: 17993-18001.
22. Kersanach, R., Brinkmann, H., Liaud, M.-R., Zhang, D.-X., Martin, W., and Cerff, R. (1994). Five identical intron positions in ancient duplicated genes of eubacterial origin. Nature 367: 387-389.
23. King, R. A., and Summers, C. G. (1988). Albinism. Dermatol. Clin. 6: 217-228.
24. Kobayashi, T., Urabe, K., Winder, A., Jimenez-Cervantes, C., Imo-kawa, G., Brewington, T., Solano, F., Garcia-Borron, J. C., and Hearing, V. J. (1994), Tyrosinase related protein 1 (TRP1) functions as a DHICA oxidase in melanin biosynthesis. EMBO J. 13: 5818-5825.
25. Kroumpouzos, G., Urabe, K., Kobayashi, T., Sakai, C., and Hearing, V. J. (1994). Functional analysis of the slaty gene product (TRP2) as dopachrome tautomerase and the effect of a point mutation on its catalytic function. Biochem. Biophys. Res. Commun. 202:1060-1068.
26. Kunkel, T. A., Roberts, J. D., and Zakour, R. A. (1987). Rapid and efficient site-specific mutagenesis without phenotypic selection. Methods Enzymol. 154: 367-382.
27. Kuzumaki, T., Matsuda, A., Wakamatsu, K., Ito, S., and Ishikawa, K. (1993). Eumelanin biosynthesis is regulated by coordinate expression of tyrosinase and tyrosinase-related protein-1 genes. Exp. Cell Res. 207: 33-40.
28. Kwon, B. S. (1993). Pigmentation genes: The tyrosinase gene family and the pmel 17 gene family. J. Invest. Dermatol. 100:134S-140S.
29. Lander, E. S., and Schork, N. J. (1994). Genetic dissection of complex traits. Science 265: 2037-2048.
30. Logsdon, J. M., Jr., Palmer, J. D., Stolzfus, A., Cerff, R., Martin, W., and Brinkmann, H. (1994). Origin of introns-Early or late? Nature 369: 526-528.
31. Lowings, P., Yavuzer, U., and Goding, C. R. (1992). Positive and negative elements regulate a melanocyte-specific promoter. Mol, Cell. Biol. 12: 3653-3662.
32. Mattick, J. S. (1994). Introns-Evolution and function. Curr. Opin. Genet. Dev. 4: 823-831.
33. Morrison, R., Mason, K., and Frost-Mason, S. (1994). A cladistic analysis of the evolutionary relationships of the members of the tyrosinase gene family using sequence data. Pigm. Cell Res. 7: 388-393.
34. Murty, V. V. V. S., Bouchard, B., Mathew, S., Vijayasaradhi, S., and Houghton, A. N. (1992). Assignment of the human TYRP (brown) locus to chromosome region 9p23 by nonradioactive in situ hybridization. Genomics 13: 227-229.
35. Ponnazhagan, S., Hou, L., and Kwon, B. S. (1994). Structural organization of the human tyrosinase gene and sequence analysis and characterization of its promoter region. J. Invest. Dermatol. 102: 744-748.
36. Rackwitz, H. R., Zehetner, G., Frischauf, A. M., and Lehrach, H, (1984), Rapid restriction mapping of DNA cloned in lambda phage vectors. Gene 30: 195-200.
37. Robins, A H. (1991). Biological perspectives on human pigmentation. "Cambridge Studies in Biological Anthropology," Cambridge Univ. Press, Cambridge.
38. Romero, C., Aberdam, E., Lamier, C., and Ortonne, J.-P. (1994). Retinoic acid as modulator of UVB-induced melanocyte differentiation-Involvement of the melanogenic enzymes expression. J. Cell Sci. 107: 1095-1103.
39. Sambrook, J., Fritsch, E. F., and Maniatis, T, (1989). "Molecular Cloning: A Laboratory Manual," 2nd ed., Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
40. Shibahara, S., Taguchi, H., Muller, R. M., Shibata, K., Cohen, T., Tomita, Y., and Tagami, H. (1991). Structural organization of the pigment cell-specific gene located at the brown locus in mouse. J. Biol. Chem. 266: 15895-15901.
41. Shibata, K., Takeda, K., Tomita, Y., Tagami, H., and Shibahara, S. (1992). Downstream region of the human tyrosinase-related protein gene enhances its promoter activity. Biochem. Biophys. Res. Commun. 184: 568-575.
42. Sturm, R. A., Baker, E., and Sutherland, G. R. (1994a). Assignment of the tyrosinase-related protein-2 gene (TYRP2) to human chromosome 13q31-q32 by fluorescence in situ hybridization: Extended synteny with mouse chromosome 14. Genomics 21: 293-296.
43. Sturm, R. A., O'Sullivan, B. J., Thomson, J. A. F., Jamshidi, N., Pedley, J., and Parsons, P. G. (1994b). Expression studies of pigmentation and POU-domain genes in human melanoma cells. Pigm. Cell Res. 7: 235-240.
44. Tso, J. Y., Sun, X. H., Kao, T. H., Reece, K. S., and Wu, R. (1985). Isolation and characterization of rat and human glyceraldehyde-3-phosphate dehydrogenase c DNAs: Genomic complexity and molecular evolution of the gene. Nucleic Acids Res. 13: 2485-2502.
45. Tsukamoto, K., Jackson, I. J., Urabe, K., Montague, P. M., and Hearing, V. J. (1992). A second tyrosinase-related protein, TRP-2, is a melanogenic enzyme termed DOPAchrome tautomerase. EMBO J. 11: 519-526.
46. Urquhart, A. (1991). Human tyrosinase-like protein (TYRL) carboxy terminus: Closer homology with the mouse protein than previously reported. Nucleic Acids Res. 19: 5803.
47. Winder, A. J., Wittbjer, A., Rosengren, E., and 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.
48. Yasumoto, K.-L, Yokoyama, K., Shibata, K., Tomita, Y., and Shibahara, S. (1994). Microphthalmia-associated transcription factor as a regulator for melanocyte-specific transcription of the human tyrosinase gene. Mol. Cell. Biol. 14: 8058-8070.
49. Yokoyama, K., Suzuki, H., Yasumoto, K.-L, Tomita, Y., and Shibahara, S. (1994), Molecular cloning and functional analysis of a c DNA coding for human DOPAchrome tautomerase/tyrosinase-re-lated protein-2. Biochim. Biophys. Acta 1217: 317-321.
50. Yuille, M. A. R., Goudie, D. R., Affata, N. A., and Ferguson-Smith, M. A. (1991). Rapid determination of sequences flanking microsatellites. Nucleic Acids Res. 19: 1950.
51. Zabarovsky, E. R., and Allikmets, R. L. (1986). An improved technique for the efficient construction of gene libraries by partial filling-in of cohesive ends. Gene 42: 119-123.