Yale Systems Biology Institute, and Department of Ecology and Evolutionary Biology, Yale University, 165 Prospect Street, POB 208106 New Haven, Connecticut 06405-8106, USA.
Nat Rev Genet. 2011 Mar;12(3):204-13. doi: 10.1038/nrg2949.
It was first noticed 100 years ago that mutations tend to affect more than one phenotypic characteristic, a phenomenon that was called 'pleiotropy'. Because pleiotropy was found so frequently, the notion arose that pleiotropy is 'universal'. However, quantitative estimates of pleiotropy have not been available until recently. These estimates show that pleiotropy is highly restricted and are more in line with the notion of variational modularity than with universal pleiotropy. This finding has major implications for the evolvability of complex organisms and the mapping of disease-causing mutations.
100 年前首次注意到，突变往往会影响一个以上的表型特征，这种现象被称为“多效性”。由于多效性经常被发现，因此出现了多效性是“普遍存在”的观点。然而，直到最近才能够对多效性进行定量估计。这些估计表明，多效性受到高度限制，与变异性模块性的概念更为一致，而不是普遍的多效性。这一发现对复杂生物的可进化性和致病突变的映射具有重大意义。
