Hubei Key Laboratory of Cell Homeostasis, College of Life Sciences, Wuhan University, Wuhan 430072, China.
Int J Biol Sci. 2020 Sep 19;16(15):2964-2973. doi: 10.7150/ijbs.47959. eCollection 2020.
Detecting selection signatures in genomes that relates to transcription regulation has been challenges in genetic analysis. Here, we report a set of transcription factors EBF1, E2F1 and EGR2 for transcription activation of promoter by a comparative analysis of promoter activities of in humans, mice, and pigs. Two of the transcription factors bound to and co-regulated promoter in each species. SNPs were further screened in pig gene by population genomics in pig populations from both China and Europe. Three SNPs were identified in second CpG island upstream of core promoter of . These SNP variations led to at least 5 haplotypes, representing 5 multiple alleles of in pig population. Distribution of these alleles in different genetic background of breeds showed a role of artificial selection for the variations of these multiple alleles. Of them, acquired the highest ability to activate gene expression in comparison with the other promoters, thus enhanced autophagy efficiently. These findings provide better understanding of transcription activation of and artificial selection via for autophagy regulation.
检测与转录调控相关的基因组中的选择信号一直是遗传分析中的挑战。在这里，我们通过比较人类、小鼠和猪中 的启动子活性，报告了一组转录因子 EBF1、E2F1 和 EGR2 用于转录激活启动子。这两个转录因子在每个物种中都结合并共同调节 启动子。进一步通过中国和欧洲猪群体的群体基因组学筛选了猪 基因中的 SNP。在核心启动子上游的第二个 CpG 岛上鉴定出了三个 SNP。这些 SNP 变异导致了至少 5 种单倍型，代表了猪群体中 的 5 个复等位基因。这些等位基因在不同品种的不同遗传背景中的分布表明，这些复等位基因的变异是人工选择的结果。其中，与其他启动子相比， 获得了最高的激活基因表达的能力，从而有效地增强了自噬作用。这些发现为更好地理解 的转录激活以及通过 进行的自噬调控的人工选择提供了依据。
