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

Byoung S. Kwon, Chaya Chintamaneni, Christine A. Kozak, Neal G. Copeland, Debra J. Gilbert, Nancy Jenkins, David Barton, Uta Francke, Yvonne Kobayashi, Kack K. Kim

Research output: Contribution to journalArticlepeer-review

130 Scopus citations

Abstract

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).

Original languageEnglish (US)
Pages (from-to)9228-9232
Number of pages5
JournalProceedings of the National Academy of Sciences of the United States of America
Volume88
Issue number20
DOIs
StatePublished - Oct 15 1991

Keywords

  • Pigmentation
  • Silver locus

ASJC Scopus subject areas

  • General
  • Genetics

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