THE MOUSE PINK-EYED DILUTION GENE - ASSOCIATION WITH HYPOPIGMENTATION IN PRADER-WILLI AND ANGELMAN SYNDROMES AND WITH HUMAN OCA2
THE MOUSE PINK-EYED DILUTION GENE - ASSOCIATION WITH HYPOPIGMENTATION IN PRADER-WILLI AND ANGELMAN SYNDROMES AND WITH HUMAN OCA2
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DOI：
10.1111/j.1600-0749.1994.tb00068.x
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发表时间：
1994-12-01
期刊：
影响因子：
--
通讯作者：
NAKATSU, Y
中科院分区：
文献类型：
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作者：
BRILLIANT, MH;KING, R;NAKATSU, Y
小鼠粉眼稀释基因p的突变会导致色素减退。我们克隆了小鼠的p基因和人的p基因。小鼠7号染色体上含有p基因的区域与人类染色体15q11-q13同源，这是一个与Prader-Willi综合征(PWS)和Angelman综合征(AS)相关的区域，两者都具有深刻的印记效应。PWS患者缺乏从15q开始的父系起源序列，而AS患者缺乏从15q开始的关键区域的母体副本。然而，这些综合征的关键区域比通常包括P基因的染色体缺失区域要小得多。PWS和AS患者的色素减退与人类P基因的一个拷贝的缺失有关，该拷贝与小鼠的对应基因高度同源。PWS和AS患者的一个子集也有OCA2。这些患者在PWS或AS缺失的情况下缺少P基因的一个副本，在P基因的剩余染色体同源物中存在突变。在没有PWS或AS的OCA2患者的两个P基因同源物中也都检测到了突变。
Mutations at the mouse pink-eyed dilution locus, p, cause hypopigmentation. We have cloned the mouse p gene cDNA and the cDNA of its human counterpart, P. The region of mouse chromosome 7 containing the p locus is syntenic with human chromosome 15q11-q13, a region associated with Prader-Willi syndrome (PWS) and Angelman syndrome (AS), both of which involve profound imprinting effects. PWS patients lack sequences of paternal origin from 15q, whereas AS patients lack a maternal copy of an essential region from 15q. However, the critical regions for these syndromes are much smaller than the chromosomal region commonly deleted that often includes the P gene. Hypopigmentation in PWS and AS patients is correlated with deletions of one copy of the human P gene that is highly homologous with its mouse counterpart. A subset of PWS and AS patients also have OCA2. These patients lack one copy of the P gene in the context of a PWS or AS deletion, with a mutation in the remaining chromosomal homologue of the P gene. Mutations in both homologues of the P gene of OCA2 patients who do not have PWS or AS have also been detected.