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

被引:145
作者
KWON, BS
CHINTAMANENI, C
KOZAK, CA
COPELAND, NG
GILBERT, DJ
JENKINS, N
BARTON, D
FRANCKE, U
KOBAYASHI, Y
KIM, KK
机构
[1] INDIANA UNIV,SCH MED,WALTHER ONCOL CTR,INDIANAPOLIS,IN 46202
[2] NIAID,MOLEC MICROBIOL LAB,BETHESDA,MD 20892
[3] NCI,FREDERICK CANC RES & DEV CTR,MAMMALIAN GENET LAB,FREDERICK,MD 21702
[4] YALE UNIV,SCH MED,DEPT HUMAN GENET,NEW HAVEN,CT 06510
关键词
PIGMENTATION; SILVER LOCUS;
D O I
10.1073/pnas.88.20.9228
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
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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页码:9228 / 9232
页数:5
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