Genetics of human gene expression: mapping DNA variants that influence gene expression.

Genetics of human gene expression: mapping DNA variants that influence gene expression.
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DOI:
10.1038/nrg2630
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发表时间:
2009-09
期刊:
Nature reviews. Genetics
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其他
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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。对静止细胞和暴露于刺激后的细胞基因表达的遗传分析正在产生对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的数据相结合,可以更好地理解单个基因的表达水平是如何调节的以及基因如何相互作用。这些发现对于基本了解基因调控以及因正常基因调控破坏而导致的疾病非常重要。
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.
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