Steingrímsson Eiríkur, Copeland Neal G, Jenkins Nancy A
Department of Biochemistry and Molecular Biology, University of Iceland, Reykjavik, Iceland.
Dev Dyn. 2006 Sep;235(9):2401-11. doi: 10.1002/dvdy.20840.
Mouse coat color mutations have a long history in biomedical research. The viable and visible phenotype of most coat color mutations has made the pigment cell, the melanocyte, an ideal system for genetic, molecular, and cellular analysis. Molecular cloning and analysis of many of the different coat color mutations have revealed the roles of a diverse range of genes, and today we know more about the pathways and proteins that regulate the development and function of pigment cells than we know about most other cell types in mammalian organisms. Coat color mutations have also provided novel insights into stem cell biology and human diseases, including melanoma. In the future, it will be important to build on this history and knowledge by taking advantage of the extensive repertoire of recently developed genome-wide methodologies, available genomic information, and the powerful methods that have been developed for modifying the mouse genome to systematically dissect the development and function of this important cell type. The usefulness of coat color mutations has just begun to emerge.
小鼠毛色突变在生物医学研究中有着悠久的历史。大多数毛色突变的可存活且可见的表型，使得色素细胞（黑素细胞）成为遗传、分子和细胞分析的理想系统。对许多不同毛色突变的分子克隆和分析揭示了多种基因的作用，如今我们对调控色素细胞发育和功能的信号通路及蛋白质的了解，比对哺乳动物机体中大多数其他细胞类型的了解还要多。毛色突变还为干细胞生物学和人类疾病（包括黑色素瘤）提供了新的见解。未来，利用最近开发的广泛的全基因组方法、可用的基因组信息以及为修饰小鼠基因组而开发的强大方法，在这一历史和知识基础上继续发展，以系统地剖析这种重要细胞类型的发育和功能，将是非常重要的。毛色突变的实用性才刚刚开始显现。
