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色素沉着的遗传学:从奇特基因到复杂性状

The genetics of pigmentation: from fancy genes to complex traits.

作者信息

Barsh G S

机构信息

Department of Pediatrics, Howard Hughes Medical Institute, Stanford University School of Medicine, CA 94305-5428, USA.

出版信息

Trends Genet. 1996 Aug;12(8):299-305. doi: 10.1016/0168-9525(96)10031-7.

Abstract

Genes that control mammalian pigmentation interact with each other in intricate networks that have been studied for decades using mouse coat color mutations. Molecular isolation of the affected genes and the ability to study their effects in a defined genetic background have led to surprising new insights into the potential interaction between tyrosine kinase and G-protein-coupled signaling pathways. Recent developments show that homologous genes in humans are responsible not only for rare diseases, such as albinism and piebaldism, but also for common phenotypic variations, such as red hair and fair skin.

摘要

控制哺乳动物色素沉着的基因在复杂的网络中相互作用,几十年来人们一直利用小鼠毛色突变对这些网络进行研究。对受影响基因的分子分离以及在特定遗传背景下研究其作用的能力,为酪氨酸激酶和G蛋白偶联信号通路之间的潜在相互作用带来了惊人的新见解。最近的研究进展表明,人类中的同源基因不仅与白化病和花斑病等罕见疾病有关,还与红头发和白皙皮肤等常见表型变异有关。

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