Merkulov Vasily M, Leberfarb Elena Yu, Merkulova Tatiana I
Laboratory of Gene Expression Regulation, Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia.
J Biosci. 2018 Dec;43(5):1069-1075.
Currently, it is generally accepted that the cis-acting effects of noncoding variants on gene expression are a major factor for phenotypic variation in complex traits and disease susceptibility. Meanwhile, the protein products of many target genes for the identified cis-regulatory variants (rSNPs) are regulatory molecules themselves (transcription factors, effectors, components of signal transduction pathways, etc.), which implies dramatic downstream effects of these variations on complex gene networks. Here, we brief the results of recent most comprehensive studies on the role of rSNPs in transcriptional regulation across the genome.
目前,人们普遍认为非编码变异对基因表达的顺式作用效应是复杂性状表型变异和疾病易感性的主要因素。同时,许多已鉴定的顺式调控变异(rSNP)的靶基因的蛋白质产物本身就是调控分子(转录因子、效应器、信号转导途径的组成部分等),这意味着这些变异对复杂基因网络具有显著的下游效应。在此,我们简述了近期关于rSNP在全基因组转录调控中作用的最全面研究结果。