Genomic organization and sequence of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus

被引：18

作者：

Bailin, T

Lee, ST

Spritz, RA

机构：

[1] UNIV WISCONSIN,SCH MED,DEPT MED GENET,LAB GENET 317,MADISON,WI 53706

[2] UNIV WISCONSIN,SCH MED,DEPT PEDIAT,MADISON,WI 53706

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 1996年 / 106卷 / 01期

关键词：

melanin; pigmentation; oculocutaneous albinism;

D O I：

10.1111/1523-1747.ep12326976

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

We have determined the DNA sequence and genomic organization of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus. D12S53E encodes a melanosomal matrix protein whose expression is closely correlated with cellular melanin content and which is a frequent melanoma tumor antigen recognized by cytotoxic T lymphocytes. D12S53E is a likely candidate gene for some cases of human oculocutaneous albinism not associated with known albinism loci.

引用

页码：24 / 27

页数：4

共 21 条

[11]

KWON BS, 1987, MOL BIOL MED, V4, P339

[12] MOUSE SILVER MUTATION IS CAUSED BY A SINGLE-BASE INSERTION IN THE PUTATIVE CYTOPLASMIC DOMAIN OF PMEL-17 [J].