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

收藏

页码：24 / 27

页数：4

相关论文

共 21 条

[1]

ADEMA GJ, 1994, J BIOL CHEM, V269, P20126

[2] IDENTIFICATION OF A HUMAN-MELANOMA ANTIGEN RECOGNIZED BY TUMOR-INFILTRATING LYMPHOCYTES ASSOCIATED WITH IN-VIVO TUMOR REJECTION [J].

KAWAKAMI, Y ;

ELIYAHU, S ;

DELGADO, CH ;

ROBBINS, PF ;

SAKAGUCHI, K ;

APPELLA, E ;

YANNELLI, JR ;

ADEMA, GJ ;

MIKI, T ;

ROSENBERG, SA .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (14) :6458-6462

[3]

Kawasaki ES, 1990, PCR PROTOCOLS GUIDE

[4] THE CDNA RPE1 AND MONOCLONAL ANTIBODY-HMB-50 DEFINE GENE-PRODUCTS PREFERENTIALLY EXPRESSED IN RETINAL-PIGMENT EPITHELIUM [J].

KIM, RY ;

WISTOW, GJ .

EXPERIMENTAL EYE RESEARCH, 1992, 55 (05) :657-662

[5]

KINGSTON RE, 1989, SHORT PROTOCOLS MOL

[6]

KOBAYASHI T, 1994, J BIOL CHEM, V269, P29198

[7] MAPPING OF THE HUMAN GENE FOR A MELANOCYTE PROTEIN PMEL-17 (D12S53E) TO CHROMOSOME 12Q13-Q14 [J].

KUBOTA, R ;

WANG, YM ;

MINOSHIMA, S ;

KUDOH, J ;

MASHIMA, Y ;

OGUCHI, Y ;

SHIMIZU, N .

GENOMICS, 1995, 26 (02) :430-431

[8] PIGMENTATION GENES - THE TYROSINASE GENE FAMILY AND THE PMEL-17 GENE FAMILY [J].

KWON, BS .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1993, 100 (02) :S134-S140

[9] 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 [J].

KWON, BS ;

CHINTAMANENI, C ;

KOZAK, CA ;

COPELAND, NG ;

GILBERT, DJ ;

JENKINS, N ;

BARTON, D ;

FRANCKE, U ;

KOBAYASHI, Y ;

KIM, KK .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (20) :9228-9232

[10] ISOLATION AND SEQUENCE OF A CDNA CLONE FOR HUMAN TYROSINASE THAT MAPS AT THE MOUSE C-ALBINO LOCUS [J].

KWON, BS ;

HAQ, AK ;

POMERANTZ, SH ;

HALABAN, R .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (21) :7473-7477