变异延伸位基因的色素表型是由改变MSH受体功能的点突变引起的
L S Robbins1, J H Nadeau, K R Johnson
1Vollum Institute for Advanced Biomedical Research, Oregon Health Sciences University, Portland 97201.
Cell
|March 26, 1993
概括
在小鼠中,延伸位置编码了黑色素细胞刺激激素 (MSH) 受体,影响外套颜色. 这种基因的突变通过改变受体功能,导致黄色或深色的外套颜色.
科学领域:
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
- 哺乳动物外套颜色的确定方法
背景情况:
- 哺乳动物的毛皮颜色变化,包括马,狗,狐和老鼠,通常由延伸位的等位基控制.
- 在延伸位处的主导等位基与深色外套颜色相关,而衰退等位基与更浅或黄色的表型相关.
研究的目的:
- 为了识别被小鼠延伸位所编码的基因.
- 阐明在延伸位上不同基因对外套颜色产生影响的分子机制.
主要方法:
- 在小鼠毛皮颜色突变的遗传分析.
- 延伸部位及其编码蛋白质的分子特征.
- 突变的黑色素细胞刺激激素 (MSH) 受体的功能研究.
主要成果:
- 鼠延伸部位编码的是黑色素细胞刺激激素 (MSH) 受体.
- 一个衰退的黄色等位基因 (e) 由一个框架转移突变产生的,导致一个不起作用的MSH受体.
- 主导的色化等位基因 (Eso, Eso-3J, Etob) 由于点突变导致过度活跃的MSH受体, Eso-3J表现出构成性激活,而 Etob表现出增强的激素响应.
结论:
- MSH受体是小鼠毛皮颜色的关键调节器.
- 在MSH受体基因的特定突变可以通过改变受体活性导致不同的外套颜色表型.
- 了解这些遗传机制,可以了解哺乳动物的色素.
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