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

Journal Article · Tue Oct 15 04:00:00 EDT 1991 · Proceedings of the National Academy of Sciences of the United States of America; (United States)

DOI:https://doi.org/10.1073/pnas.88.20.9228· OSTI ID:5821608

Kwon, B S; Chintamaneni, C; Kobayashi, Y; Kim, K K ^[1]; Kozak, C A ^[2]; Copeland, N G; Gilbert, D J; Jenkins, N ^[3]; Barton, D; Francke, U ^[4]

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1. Indiana Univ.-Purdue Univ., Indianapolis (United States)
2. National Inst. of Health, Bethesda, MD (United States)
3. National Cancer Inst., Frederick, MD (United States)
4. Yale Univ., New Haven, CT (United States)

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. The authors 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).

• OSTI ID: 5821608
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (United States), Journal Name: Proceedings of the National Academy of Sciences of the United States of America; (United States) Vol. 88:20; ISSN 0027-8424; ISSN PNASA
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
AMINO ACID SEQUENCE
ANIMALS
CHROMOSOMES
DNA HYBRIDIZATION
DNA SEQUENCING
GENETIC MAPPING
HETEROCHROMOSOMES
HYBRIDIZATION
HYDROXY COMPOUNDS
MAMMALS
MAPPING
MELANIN
MESSENGER-RNA
MICE
MOLECULAR STRUCTURE
NUCLEIC ACIDS
ORGANIC COMPOUNDS
ORGANIC NITROGEN COMPOUNDS
PIGMENTS
PROTEINS
RFLPS
RNA
RODENTS
STRUCTURAL CHEMICAL ANALYSIS
VERTEBRATES