Eyre-Walker Adam, Keightley Peter D
Centre for the Study of Evolution, University of Sussex, Brighton, BN1 9QG, UK.
Nat Rev Genet. 2007 Aug;8(8):610-8. doi: 10.1038/nrg2146.
The distribution of fitness effects (DFE) of new mutations is a fundamental entity in genetics that has implications ranging from the genetic basis of complex disease to the stability of the molecular clock. It has been studied by two different approaches: mutation accumulation and mutagenesis experiments, and the analysis of DNA sequence data. The proportion of mutations that are advantageous, effectively neutral and deleterious varies between species, and the DFE differs between coding and non-coding DNA. Despite these differences between species and genomic regions, some general principles have emerged: advantageous mutations are rare, and those that are strongly selected are exponentially distributed; and the DFE of deleterious mutations is complex and multi-modal.
新突变的适合度效应分布（DFE）是遗传学中的一个基本概念，其影响范围从复杂疾病的遗传基础到分子钟的稳定性。人们通过两种不同的方法对其进行了研究：突变积累和诱变实验，以及DNA序列数据的分析。有利、有效中性和有害突变的比例在不同物种之间有所不同，并且DFE在编码DNA和非编码DNA之间也存在差异。尽管物种和基因组区域之间存在这些差异，但一些普遍原则已经显现出来：有利突变很少见，那些受到强烈选择的突变呈指数分布；有害突变的DFE是复杂的且多峰的。
