恒河猴白化病的分子基础。

Molecular basis of albinism in the rhesus monkey.

作者信息

Ding B, Ryder O A, Wang X, Bai S C, Zhou S Q, Zhang Y

机构信息

Laboratory of Cellular and Molecular Evolution, Kunming Institute of Zoology, The Chinese Academy of Sciences, Kunming, People's Republic of China.

出版信息

Mutat Res. 2000 Apr 3;449(1-2):1-6. doi: 10.1016/s0027-5107(00)00008-7.

DOI:10.1016/s0027-5107(00)00008-7

PMID:10751629

Abstract

Sequence analysis of the tyrosinase (TYR) coding region from one albino rhesus monkey (Macaca mulatta) family revealed that the two monkeys with phenotype similar to human TYR-negative oculocutaneous albinism (OCA) were homozygous for a missense mutation (S184TER) in exon 1 at codon 184. The offspring of one of the albino monkey ("Kangkang") are all heterozygous for the S184TER mutation, but the S184TER mutation was not observed in 93 control individuals. We conclude that the point mutation is responsible and sufficient to generate the albino rhesus monkey phenotype. The rough age of the S184TER nonsense mutation may be about 0.8 million years using a rate of 0.16% per million years.

摘要

对一个白化恒河猴（猕猴）家族的酪氨酸酶（TYR）编码区进行序列分析发现，两只表型与人类TYR阴性眼皮肤白化病（OCA）相似的猴子在第1外显子第184密码子处存在一个错义突变（S184TER）的纯合子。其中一只白化猴（“康康”）的后代均为S184TER突变的杂合子，但在93个对照个体中未观察到S184TER突变。我们得出结论，该点突变足以导致白化恒河猴表型的产生。使用每百万年0.16%的速率计算，S184TER无义突变的大致年龄约为80万年。