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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

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Authors
Kwon, Byoung S.; Chintamaneni, Chaya; Kozak, Christine A.; Copeland, Neal G.; Gilbert, Debra J.; Jenkins, Nancy; Barton, David; Francke, Uta; Kobayashi, Yvonne; Kim, Kack K.
Issue Date
1991-10-15
Publisher
National Academy of Sciences
Citation
Proc Natl Acad Sci U S A. 88(20), 9228–9232.
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).
ISSN
0027-8424
Language
English
URI
https://hdl.handle.net/10371/62398
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College of Dentistry/School of Dentistry (치과대학/치의학대학원)Dept. of Dentistry (치의학과)Journal Papers (저널논문_치의학과)
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