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显性黄色刺鼠毛色突变的分子基础。

The molecular basis for dominant yellow agouti coat color mutations.

作者信息

Perry W L, Copeland N G, Jenkins N A

机构信息

Mammalian Genetics Laboratory, ABL-Basic Research Program, NCI-Frederick Cancer Research and Development Center, Maryland 21702.

出版信息

Bioessays. 1994 Oct;16(10):705-7. doi: 10.1002/bies.950161002.

Abstract

Agouti expression during the middle portion of the mouse hair growth cycle induces melanocytes to synthesize yellow instead of black pigment, generating black hairs with a yellow band. Dominant agouti alleles increase the amount of yellow pigment in the coat and are associated with pleiotropic effects including obesity, diabetes and increased tumor susceptibility. Four dominant agouti alleles (Aiapy, Aiy, and Avy) were recently shown to result from insertions that cause ubiquitous expression of chimeric transcripts encoding a wild-type agouti protein(1,2). Three insertions were identified as intracisternal A-particles, which helps explain the variable coat colors and parental imprinting effects associated with some dominant agouti alleles.

摘要

在小鼠毛发生长周期的中期,刺鼠基因的表达会诱导黑素细胞合成黄色而非黑色色素,从而产生带有黄色带的黑色毛发。显性刺鼠基因等位基因会增加毛发中黄色色素的含量,并与多种多效性效应相关,包括肥胖、糖尿病和肿瘤易感性增加。最近发现,四个显性刺鼠基因等位基因(Aiapy、Aiy和Avy)是由插入导致嵌合转录本的普遍表达而产生的,这些嵌合转录本编码野生型刺鼠蛋白(1,2)。其中三个插入被鉴定为脑内A颗粒,这有助于解释与一些显性刺鼠基因等位基因相关的可变毛色和亲本印记效应。

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