RAB37 multiple alleles, transcription activation and evolution in mammals.
RAB37 multiple alleles, transcription activation and evolution in mammals.
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RAB37 多个等位基因、哺乳动物转录激活和进化
DOI：
10.7150/ijbs.47959
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发表时间：
2020
影响因子：
9.2
通讯作者：
Zhou R
中科院分区：
文献类型：
--
作者：
Xu X;Hu M;Ying R;Zou J;Lin L;Cheng H;Zhou R
在基因组中检测与转录调控相关的选择标记一直是遗传分析中的挑战。在这里，我们报告了一组转录因子EBF 1，E2 F1和EGR 2的转录激活RAB 37启动子的比较分析的启动子活性的RAB 37在人类，小鼠和猪。在每个物种中，两个转录因子结合并共调节RAB 37启动子。利用群体基因组学方法对中国猪和欧洲猪的RAB 37基因进行了SNPs筛查。在RAB 37核心启动子上游的第二个CpG岛中鉴定出三个SNP。这些SNP变异导致了至少5种单倍型，代表了猪群体中RAB 37的5个复等位基因。这些等位基因在不同遗传背景下的分布表明，这些复等位基因的变异具有一定的人工选择作用。其中，与其他启动子相比，RAB 37-c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。这些发现提供了对RAB 37的转录激活和通过RAB 37进行自噬调节的人工选择的更好理解。
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 RAB37 promoter by a comparative analysis of promoter activities of RAB37 in humans, mice, and pigs. Two of the transcription factors bound to and co-regulated RAB37 promoter in each species. SNPs were further screened in pig RAB37 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 RAB37. These SNP variations led to at least 5 haplotypes, representing 5 multiple alleles of RAB37 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, RAB37-c 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 RAB37 and artificial selection via RAB37 for autophagy regulation.
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16.6
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Guilhamon P;Eskandarpour M;Halai D;Wilson GA;Feber A;Teschendorff AE;Gomez V;Hergovich A;Tirabosco R;Fernanda Amary M;Baumhoer D;Jundt G;Ross MT;Flanagan AM;Beck S
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