Rebeiz Mark, Williams Thomas M
Department of Biological Sciences, University of Pittsburgh, Pittsburgh, PA, USA.
Methods Mol Biol. 2011;772:351-75. doi: 10.1007/978-1-61779-228-1_21.
Elucidating the molecular bases by which phenotypic traits have evolved provides a glimpse into the past, allowing the characterization of genetic changes that cumulatively contribute to evolutionary innovations. Historically, much of the experimental attention has been focused on changes in protein-coding regions that can readily be identified by the genetic code for translating gene coding sequences into proteins. Resultantly, the role of noncoding sequences in trait evolution has remained more mysterious. In recent years, several studies have reached an unprecedented level of detail in describing how noncoding mutations in gene cis-regulatory elements contribute to morphological evolution. Based on these and other studies, we describe an experimental framework and some of the genetic and molecular methods to connect a particular cis-regulatory mutation to the evolution of any phenotypic trait.
阐明表型性状进化的分子基础，能让人一窥过去，从而鉴定出那些累积起来促成进化创新的基因变化。从历史角度看，实验关注的重点大多放在了蛋白质编码区的变化上，这些变化可通过将基因编码序列翻译成蛋白质的遗传密码轻易识别出来。因此，非编码序列在性状进化中的作用一直更为神秘。近年来，一些研究在描述基因顺式调控元件中的非编码突变如何促成形态进化方面，达到了前所未有的详细程度。基于这些研究及其他研究，我们描述了一个实验框架以及一些遗传和分子方法，以将特定的顺式调控突变与任何表型性状的进化联系起来。
