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Proc Natl Acad Sci U S A. 1991 Oct 15; 88(20): 9228–9232.

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.


Melanocytes preferentially express an mRNA species, Pmel 17, whose protein product cross-reacts with anti-tyrosinase antibodies and whose expression correlates with the melanin content. We have now analyzed the deduced protein structure and mapped its chromosomal location in mouse and human. The amino acid sequence deduced from the nucleotide sequence of the Pmel 17 cDNA showed that the protein is composed of 645 amino acids with a molecular weight of 68,600. The Pmel 17 protein contains a putative leader sequence and a potential membrane anchor segment, which indicates that this may be a membrane-associated protein in melanocytes. The deduced protein contains five potential N-glycosylation sites and relatively high levels of serine and threonine. Three repeats of a 26-amino acid motif appear in the middle of the molecule. The human Pmel 17 gene, designated D12S53E, maps to chromosome 12, region 12pter-q21; and the mouse homologue, designated D12S53Eh, maps to the distal region of mouse chromosome 10, a region also known to carry the coat color locus si (silver).

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  • Pomerantz SH. The tyrosine hydroxylase activity of mammalian tyrosinase. J Biol Chem. 1966 Jan 10;241(1):161–168. [PubMed]
  • Körner A, Pawelek J. Mammalian tyrosinase catalyzes three reactions in the biosynthesis of melanin. Science. 1982 Sep 17;217(4565):1163–1165. [PubMed]
  • Tomita Y, Takeda A, Okinaga S, Tagami H, Shibahara S. Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. Biochem Biophys Res Commun. 1989 Nov 15;164(3):990–996. [PubMed]
  • Spritz RA, Strunk KM, Giebel LB, King RA. Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism. N Engl J Med. 1990 Jun 14;322(24):1724–1728. [PubMed]
  • Chintamaneni CD, Halaban R, Kobayashi Y, Witkop CJ, Jr, Kwon BS. A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism. Proc Natl Acad Sci U S A. 1991 Jun 15;88(12):5272–5276. [PMC free article] [PubMed]
  • Kwon BS, Haq AK, Pomerantz SH, Halaban R. Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus. Proc Natl Acad Sci U S A. 1987 Nov;84(21):7473–7477. [PMC free article] [PubMed]
  • Kwon BS, Halaban R, Kim GS, Usack L, Pomerantz S, Haq AK. A melanocyte-specific complementary DNA clone whose expression is inducible by melanotropin and isobutylmethyl xanthine. Mol Biol Med. 1987 Dec;4(6):339–355. [PubMed]
  • Justice MJ, Siracusa LD, Gilbert DJ, Heisterkamp N, Groffen J, Chada K, Silan CM, Copeland NG, Jenkins NA. A genetic linkage map of mouse chromosome 10: localization of eighteen molecular markers using a single interspecific backcross. Genetics. 1990 Aug;125(4):855–866. [PMC free article] [PubMed]
  • Chabot B, Stephenson DA, Chapman VM, Besmer P, Bernstein A. The proto-oncogene c-kit encoding a transmembrane tyrosine kinase receptor maps to the mouse W locus. Nature. 1988 Sep 1;335(6185):88–89. [PubMed]
  • Geissler EN, Ryan MA, Housman DE. The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene. Cell. 1988 Oct 7;55(1):185–192. [PubMed]
  • Balling R, Deutsch U, Gruss P. undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1. Cell. 1988 Nov 4;55(3):531–535. [PubMed]
  • Danciger M, Bowes C, Kozak CA, LaVail MM, Farber DB. Fine mapping of a putative rd cDNA and its co-segregation with rd expression. Invest Ophthalmol Vis Sci. 1990 Aug;31(8):1427–1432. [PubMed]
  • Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A. 1977 Dec;74(12):5463–5467. [PMC free article] [PubMed]
  • Mehra V, Sweetser D, Young RA. Efficient mapping of protein antigenic determinants. Proc Natl Acad Sci U S A. 1986 Sep;83(18):7013–7017. [PMC free article] [PubMed]
  • Kinzler KW, Ruppert JM, Bigner SH, Vogelstein B. The GLI gene is a member of the Kruppel family of zinc finger proteins. Nature. 1988 Mar 24;332(6162):371–374. [PubMed]
  • Kozak CA, Peyser M, Krall M, Mariano TM, Kumar CS, Pestka S, Mock BA. Molecular genetic markers spanning mouse chromosome 10. Genomics. 1990 Nov;8(3):519–524. [PubMed]
  • Copeland NG, Gilbert DJ, Cho BC, Donovan PJ, Jenkins NA, Cosman D, Anderson D, Lyman SD, Williams DE. Mast cell growth factor maps near the steel locus on mouse chromosome 10 and is deleted in a number of steel alleles. Cell. 1990 Oct 5;63(1):175–183. [PubMed]
  • Francke U, Yang-Feng TL, Brissenden JE, Ullrich A. Chromosomal mapping of genes involved in growth control. Cold Spring Harb Symp Quant Biol. 1986;51(Pt 2):855–866. [PubMed]
  • Yang-Feng TL, DeGennaro LJ, Francke U. Genes for synapsin I, a neuronal phosphoprotein, map to conserved regions of human and murine X chromosomes. Proc Natl Acad Sci U S A. 1986 Nov;83(22):8679–8683. [PMC free article] [PubMed]
  • Barton DE, Arquint M, Roder J, Dunn R, Francke U. The myelin-associated glycoprotein gene: mapping to human chromosome 19 and mouse chromosome 7 and expression in quivering mice. Genomics. 1987 Oct;1(2):107–112. [PubMed]
  • Hoggan MD, Halden NF, Buckler CE, Kozak CA. Genetic mapping of the mouse c-fms proto-oncogene to chromosome 18. J Virol. 1988 Mar;62(3):1055–1056. [PMC free article] [PubMed]
  • Buchberg AM, Bedigian HG, Taylor BA, Brownell E, Ihle JN, Nagata S, Jenkins NA, Copeland NG. Localization of Evi-2 to chromosome 11: linkage to other proto-oncogene and growth factor loci using interspecific backcross mice. Oncogene Res. 1988;2(2):149–165. [PubMed]
  • Jenkins NA, Copeland NG, Taylor BA, Lee BK. Organization, distribution, and stability of endogenous ecotropic murine leukemia virus DNA sequences in chromosomes of Mus musculus. J Virol. 1982 Jul;43(1):26–36. [PMC free article] [PubMed]
  • von Heijne G. Patterns of amino acids near signal-sequence cleavage sites. Eur J Biochem. 1983 Jun 1;133(1):17–21. [PubMed]
  • Shaw AS, Chalupny J, Whitney JA, Hammond C, Amrein KE, Kavathas P, Sefton BM, Rose JK. Short related sequences in the cytoplasmic domains of CD4 and CD8 mediate binding to the amino-terminal domain of the p56lck tyrosine protein kinase. Mol Cell Biol. 1990 May;10(5):1853–1862. [PMC free article] [PubMed]
  • Morton CC, Byers MG, Nakai H, Bell GI, Shows TB. Human genes for insulin-like growth factors I and II and epidermal growth factor are located on 12q22----q24.1, 11p15, and 4q25----q27, respectively. Cytogenet Cell Genet. 1986;41(4):245–249. [PubMed]
  • Vijayasaradhi S, Bouchard B, Houghton AN. The melanoma antigen gp75 is the human homologue of the mouse b (brown) locus gene product. J Exp Med. 1990 Apr 1;171(4):1375–1380. [PMC free article] [PubMed]
  • Chintamaneni CD, Ramsay M, Colman MA, Fox MF, Pickard RT, Kwon BS. Mapping the human CAS2 gene, the homologue of the mouse brown (b) locus, to human chromosome 9p22-pter. Biochem Biophys Res Commun. 1991 Jul 15;178(1):227–235. [PubMed]
  • Körner AM, Pawelek J. Dopachrome conversion: a possible control point in melanin biosynthesis. J Invest Dermatol. 1980 Aug;75(2):192–195. [PubMed]
  • Nadeau JH. Maps of linkage and synteny homologies between mouse and man. Trends Genet. 1989 Mar;5(3):82–86. [PubMed]
  • Trent JM, Olson S, Lawn RM. Chromosomal localization of human leukocyte, fibroblast, and immune interferon genes by means of in situ hybridization. Proc Natl Acad Sci U S A. 1982 Dec;79(24):7809–7813. [PMC free article] [PubMed]
  • Lidsky AS, Law ML, Morse HG, Kao FT, Rabin M, Ruddle FH, Woo SL. Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome. Proc Natl Acad Sci U S A. 1985 Sep;82(18):6221–6225. [PMC free article] [PubMed]
  • Arheden K, Rønne M, Mandahl N, Heim S, Kinzler KW, Vogelstein B, Mitelman F. In situ hybridization localizes the human putative oncogene GLI to chromosome subbands 12q13.3-14.1. Hum Genet. 1989 Apr;82(1):1–2. [PubMed]

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