Cheung Vivian G, Spielman Richard S
Howard Hughes Medical Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
Nat Rev Genet. 2009 Sep;10(9):595-604. doi: 10.1038/nrg2630. Epub 2009 Jul 28.
There is extensive natural variation in human gene expression. As quantitative phenotypes, expression levels of genes are heritable. Genetic linkage and association mapping have identified cis- and trans-acting DNA variants that influence expression levels of human genes. New insights into human gene regulation are emerging from genetic analyses of gene expression in cells at rest and following exposure to stimuli. The integration of these genetic mapping results with data from co-expression networks is leading to a better understanding of how expression levels of individual genes are regulated and how genes interact with each other. These findings are important for basic understanding of gene regulation and of diseases that result from disruption of normal gene regulation.
人类基因表达存在广泛的自然变异。作为定量表型，基因的表达水平是可遗传的。遗传连锁和关联图谱已鉴定出影响人类基因表达水平的顺式和反式作用DNA变异。对静息细胞以及暴露于刺激后的细胞中的基因表达进行遗传分析，正在产生关于人类基因调控的新见解。将这些遗传图谱结果与共表达网络数据相结合，正有助于更好地理解单个基因的表达水平是如何被调控的，以及基因之间是如何相互作用的。这些发现对于从基础层面理解基因调控以及由正常基因调控破坏导致的疾病具有重要意义。
