THE MOUSE PINK-EYED DILUTION GENE - ASSOCIATION WITH HUMAN PRADER-WILLI AND ANGELMAN SYNDROMES

被引：193

作者：

GARDNER, JM

NAKATSU, Y

GONDO, Y

LEE, S

LYON, MF

KING, RA

BRILLIANT, MH

机构：

[1] FOX CHASE CANC INST,INST CANC RES,PHILADELPHIA,PA 19111

[2] MRC,RADIOBIOL UNIT,DIDCOT 0X11 0RD,OXON,ENGLAND

[3] UNIV MINNESOTA,DEPT MED,MINNEAPOLIS,MN 55455

来源：

SCIENCE | 1992年 / 257卷 / 5073期

关键词：

D O I：

10.1126/science.257.5073.1121

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：

Complementary DNA clones from the pink-eyed dilution (p) locus of mouse chromosome 7 were isolated from murine melanoma and melanocyte libraries. The transcript from this gene is missing or altered in six independent mutant alleles of the p locus, suggesting that disruption of this gene results in the hypopigmentation phenotype that defines mutant p alleles. Characterization of the human homolog revealed that it is localized to human chromosome 15 at q11.2-q12, a region associated with Prader-Willi and Angelman syndromes, suggesting that altered expression of this gene may be responsible for the hypopigmentation phenotype exhibited by certain individuals with these disorders.

引用

页码：1121 / 1124

页数：4

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