Genomic organization and sequence of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus

Journal of Investigative Dermatology

Volumn 106, Issue 1, 1996, Pages 24-27

  Bailin, Tu ^a   Lee, Seung Taek ^a,c   Spritz, Richard A ^a,b  

^a UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^b UNIVERSITY OF WISCONSIN MADISON   (United States)

^c Yonsei University   (South Korea)

Author keywords

Melanin; Oculocutaneous albinism; Pigmentation

Indexed keywords

ARTICLE; CONTROLLED STUDY; GENE MAPPING; HUMAN; HUMAN CELL; MELANOGENESIS; MOLECULAR BIOLOGY; OCULOCUTANEOUS ALBINISM; PRIORITY JOURNAL;

EID: 0030062672     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12326976     Document Type: Article

References (21)

1. Silvers WK: The Coat Colors of Mice. Springer-Verlag, New York, 1979
2. Lyon MF, Searle AG: Genetic Variants and Strains of the Laboratory Mouse. Oxford University Press, New York, 1989
3. Kwon BS, Chintamaneni C, Kozak CA, Copeland NG, Gilbert DJ, Jenkins N, Barton D, Francke U, Kobayashi Y, Kim KK: A melanocyte-specific gene, Pmel 17, maps near the silver coat color locus on mouse chromosome 10 and is in a syntenic region on human chromosome 12. Proc Natl Acad Sci USA 88:9228-9232, 1991
4. Zhou B-K, Kobayashi T, Donatien PD, Bennett DC, Hearing VJ, Orlow SJ: Identification of a melanosomal matrix protein encoded by the murine si (silver) locus using "organelle scanning". Proc Natl Acad Sci USA 91:7076-7080, 1994
5. Kobayashi T, Urabe K, Orlow SJ, Higashi K, Imokawa G, Kwon BS, Potter B, Hearing VJ: The Pmel 17/Silver locus protein. Characterization and investigation of its melanogenic function. J Biol Chem 269:29198-29205, 1994
6. Kwon BS, Halaban R, Kim GS, Usack L, Pomerantz SH, Haq AK: A melanocyte-specific cDNA clone whose expression is inducible by MSH and IBMX. Mol Biol Med 4:339-355, 1987
7. Kwon BS: Pigmentation genes: the tyrosinase gene family and the pmel 17 gene family. J Invest Dermatol 100(suppl):134S-140S, 1993
8. Mochii M, Agata K, Eguchi G: Complete sequence and expression of a cDNA encoding a chicken 115-kDa melanosomal matrix protein. Pigment Cell Res 4:41-47, 1991
9. Kim R, Wistow GJ: The cDNA RPE1 and monoclonal antibody HMB-50 define gene products preferentially expressed in retinal pigment epithelium. Exp Eye Res 55:657-662, 1992
10. Kawakami Y, Eliyahu S, Delgado CH, Robbins PF, Sakaguchi K, Appella E, Yannelli JR, Adema GJ, Miki T, Rosenberg SA: Identification of a human melanoma antigen recognized by rumor-infiltrating lymphocytes associated with in vivo tumor rejection. Proc Natl Acad Sci USA 91:6458-6462, 1994
11. Adema GJ, de Boer AJ, Vogel AM, Loenen WAM, Figdor CG: Molecular characterization of the melanocyte lineage-specific antigen gp100. J Biol Chem 269:20126-20133, 1994
12. Maresh GA, Marken JS, Neubauer M, Aruffo A, Hellstrom I, Hellstrom KE, Marquardt H: Cloning and expression of the gene for the melanoma-associated ME20 antigen. DNA Cell Biol 13:87-95, 1994
13. Kubota R, Wang Y, Minoshima S, Kudoh J, Mashima Y, Oguchi Y, Shimizu N: Mapping of the human gene for a melanocyte protein Pmel 17 (D12S53E) to chromosome 12q13-q14. Genomics 26:430-431, 1995
14. Kwon BS, Halaban R, Ponnazhagan S, Kim K, Chintamaneni C, Bennett D, Pickare RT: Mouse silver mutation is caused by a single base insertion in the putative cytoplasmic domain of Pmel 17. Nucleic Acids Res 23:154-158, 1995
15. Spritz RA, Hearing VJ Jr: Genetic disorders of pigmentation. Adv Hum Genet 22:1-45, 1995
16. Kwon BS, Haq AK, Pomerantz SH, Halaban R: Isolation and sequence of a cDNA for human tyrosinase that maps at the mouse c-albino locus. Proc Natl Acad Sci USA 84:7473-7477, 1987
17. Southern EM: Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503-517, 1975
18. Tveit KM, Fostad O, Johannessen JV, Olsnes S: A human melanoma cell line established from xenograft in athymic mice. Br J Cancer 41:724-733, 1980
19. Kingston RE: In: Ausubel FM, Brent R, Kingston RE, Moore DD, Seidman SG, Smith JA, Struhl K (eds.). Short Protocols in Molecular Biology. Wiley, New York, 1989
20. Kawasaki ES: In: Innis MA, Gelfand DH, Snisky JJ, White TJ (eds.). PCR Protocols, A Guide to Methods and Applications. Academic Press, New York, 1990
21. Shibahara S, Taguchi H, Muller RM, Shibata K, Cohen T, Tomita Y, Tagami H: Structural organization of the pigment cell-specific gene located at the brown locus in mice. J Biol Chem 266:15895-15901, 1991