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

被引：194
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.
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页码：1121 / 1124
页数：4
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