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Near and far effects on gene expression
Science ( IF 56.9 ) Pub Date : 2017-04-13 , DOI: 10.1126/science.356.6334.150-b
Laura M. Zahn

Genetic Variation The genes in the human β-globin cluster are co-regulated by a single control region or master cis-regulatory site. Surprisingly, few other master regulators have been identified, although they are suspected to be important in disease. In the past, variants in master regulatory sites have been used to identify defects in the expression of single genes. Tong et al. have expanded the reach of such studies to identify and investigate the effect of variants on the co-regulation of multiple genes. Further analysis of the three-dimensional structure of the genome showed that chromatin looping brings the master regulators adjacent to the genes that they appear to affect. The looping pattern seems to be broadly conserved among mammals. Variation in such regulatory hubs has multiple downstream effects on both genes and noncoding regions that may have shaped genome evolution and complex disease associations. PLOS Genet. 10.1371/journal.pgen.1006673 (2017).

中文翻译:

对基因表达的远近影响

遗传变异人类β-珠蛋白簇中的基因由单个控制区域或主顺式调控位点共同调控。令人惊讶的是,几乎没有其他主要调节剂被确定,尽管它们被怀疑在疾病中很重要。过去,主调控位点的变异已被用于识别单个基因表达的缺陷。通等人。已经扩大了此类研究的范围,以识别和研究变体对多个基因共调节的影响。对基因组三维结构的进一步分析表明,染色质循环使主要调节因子与它们似乎影响的基因相邻。循环模式似乎在哺乳动物中广泛保守。此类监管中心的变化对基因和非编码区域具有多种下游影响,这些影响可能塑造了基因组进化和复杂的疾病关联。PLOS 基因。10.1371/journal.pgen.1006673 (2017)。
更新日期:2017-04-13
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