1] Departments of Human Genetics and Biological Chemistry, University of California, Los Angeles, California 90095, USA. [2] Gonda Center 5309, 695 Charles E. Young Drive South, Los Angeles, California 90095, USA.
1] Departments of Human Genetics and Biological Chemistry, University of California, Los Angeles, California 90095, USA. [2] Gonda Center 5309, 695 Charles E. Young Drive South, Los Angeles, California 90095, USA. [3] Howard Hughes Medical Institute, University of California, Los Angeles, California 90095, USA.
Nat Rev Genet. 2015 Apr;16(4):197-212. doi: 10.1038/nrg3891. Epub 2015 Feb 24.
We are in a phase of unprecedented progress in identifying genetic loci that cause variation in traits ranging from growth and fitness in simple organisms to disease in humans. However, a mechanistic understanding of how these loci influence traits is lacking for the majority of loci. Studies of the genetics of gene expression have emerged as a key tool for linking DNA sequence variation to phenotypes. Here, we review recent insights into the molecular nature of regulatory variants and describe their influence on the transcriptome and the proteome. We discuss conceptual advances from studies in model organisms and present examples of complete chains of causality that link individual polymorphisms to changes in gene expression, which in turn result in physiological changes and, ultimately, disease risk.
我们正处于一个前所未有的阶段，能够识别出导致从简单生物的生长和适应性到人类疾病等特征发生变化的遗传基因座。然而，对于大多数基因座，我们缺乏对这些基因座如何影响特征的机制性理解。基因表达遗传学研究已成为将 DNA 序列变异与表型联系起来的关键工具。在这里，我们回顾了最近关于调控变异体分子本质的见解，并描述了它们对转录组和蛋白质组的影响。我们讨论了来自模式生物研究的概念进展，并介绍了将个体多态性与基因表达变化联系起来的完整因果链的例子，这些变化进而导致生理变化，最终导致疾病风险。
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