Whitehead Institute for Biomedical Research and Howard Hughes Medical Institute, Cambridge, Massachusetts 02142, USA.
Annu Rev Genet. 2010;44:189-216. doi: 10.1146/annurev.genet.40.110405.090412.
Changing a single nucleotide in a genome can have profound consequences under some conditions, but the same change can have no consequences under others. Indeed, organisms can be surprisingly robust to environmental and genetic perturbations. Yet, the mechanisms underlying such robustness are controversial. Moreover, how they might affect evolutionary change remains enigmatic. Here, we review the recently appreciated central role of protein homeostasis in buffering and potentiating genetic variation and discuss how these processes mediate the critical influence of the environment on the relationship between genotype and phenotype. Deciphering how robustness emerges from biological organization and the mechanisms by which it is overcome in changing environments will lead to a more complete understanding of both fundamental evolutionary processes and diverse human diseases.
在某些条件下,改变基因组中的一个核苷酸可能会产生深远的影响,但在其他条件下,同样的改变可能没有任何后果。事实上,生物对环境和遗传干扰具有惊人的稳健性。然而,支持这种稳健性的机制存在争议。此外,它们如何影响进化变化仍然是个谜。在这里,我们回顾了最近蛋白质平衡在缓冲和增强遗传变异方面的核心作用,并讨论了这些过程如何介导环境对基因型和表型之间关系的关键影响。揭示稳健性如何从生物组织中产生,以及在不断变化的环境中克服稳健性的机制,将有助于我们更全面地理解基本的进化过程和各种人类疾病。