Wong Albert H C, Gottesman Irving I, Petronis Arturas
The Centre for Addiction and Mental Health, Department of Psychiatry, Toronto, Ontario, Canada.
Hum Mol Genet. 2005 Apr 15;14 Spec No 1:R11-8. doi: 10.1093/hmg/ddi116.
Human monozygotic twins and other genetically identical organisms are almost always strikingly similar in appearance, yet they are often discordant for important phenotypes including complex diseases. Such variation among organisms with virtually identical chromosomal DNA sequences has largely been attributed to the effects of environment. Environmental factors can have a strong effect on some phenotypes, but evidence from both animal and human experiments suggests that the impact of environment has been overstated and that our views on the causes of phenotypic differences in genetically identical organisms require revision. New theoretical and experimental opportunities arise if epigenetic factors are considered as part of the molecular control of phenotype. Epigenetic mechanisms may explain paradoxical findings in twin and inbred animal studies when phenotypic differences occur in the absence of observable environmental differences and also when environmental differences do not significantly increase the degree of phenotypic variation.
人类同卵双胞胎和其他基因完全相同的生物体在外观上几乎总是极为相似,但在包括复杂疾病在内的重要表型方面却常常存在差异。在染色体DNA序列几乎相同的生物体之间出现的这种变异,很大程度上归因于环境的影响。环境因素对某些表型可能有很强的影响,但来自动物和人类实验的证据表明,环境的影响被夸大了,我们对基因相同的生物体中表型差异原因的看法需要修正。如果将表观遗传因素视为表型分子控制的一部分,就会出现新的理论和实验机会。当在没有可观察到的环境差异时出现表型差异,以及当环境差异并未显著增加表型变异程度时,表观遗传机制可能解释双胞胎和近交动物研究中的矛盾发现。