THE MOUSE PINK-EYED DILUTION GENE - ASSOCIATION WITH HUMAN PRADER-WILLI AND ANGELMAN SYNDROMES
THE MOUSE PINK-EYED DILUTION GENE - ASSOCIATION WITH HUMAN PRADER-WILLI AND ANGELMAN SYNDROMES
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DOI：
10.1126/science.257.5073.1121
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发表时间：
1992-08-21
期刊：
影响因子：
56.9
通讯作者：
BRILLIANT, MH
中科院分区：
文献类型：
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作者：
GARDNER, JM;NAKATSU, Y;BRILLIANT, MH
从小鼠黑色素瘤和黑素细胞文库中分离了小鼠7号染色体粉眼稀释(P)位点的互补DNA克隆。在p基因座的6个独立的突变等位基因中，该基因的转录本缺失或改变，这表明该基因的中断导致了定义突变p等位基因的色素减退表型。对人类同源基因的分析表明，它定位在人类15号染色体的q11.2-q12上，这是一个与Prader-Willi和Angelman综合征相关的区域，表明该基因的表达变化可能是某些患有这些疾病的人表现出色素减退表型的原因。
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.