Genomic Analysis Revealed a Convergent Evolution of LINE-1 in Coat Color: A Case Study in Water Buffaloes (Bubalus bubalis)

文献类型： 外文期刊

第一作者： Liang, Dong

作者： Liang, Dong;Zhao, Pengju;Si, Jingfang;Zhang, Yi;Fang, Lingzhao;Pairo-Castineira, Erola;Hu, Xiaoxiang;Xu, Qing;Hou, Yali;Gong, Yu;Liang, Zhengwen;Tian, Bing;Mao, Huaming;Yindee, Marnoch;Faruque, Md Omar;Kongvongxay, Siton;Khamphoumee, Souksamlane;Liu, George E.;Wu, Dong-Dong;Barker, James Stuart F.;Han, Jianlin;Han, Jianlin

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关键词： white coat color; water buffalo; ASIP gene; LINE-1; transposon; convergent evolution

期刊名称：MOLECULAR BIOLOGY AND EVOLUTION （ 影响因子：16.24； 五年影响因子：18.67 ）

ISSN： 0737-4038

年卷期： 2021 年 38 卷 3 期

页码：

收录情况： SCI

摘要： Visible pigmentation phenotypes can be used to explore the regulation of gene expression and the evolution of coat color patterns in animals. Here, we performed whole-genome and RNA sequencing and applied genome-wide association study, comparative population genomics and biological experiments to show that the 2,809-bp-long LINE-1 insertion in the ASIP (agouti signaling protein) gene is the causative mutation for the white coat phenotype in swamp buffalo (Bubalus bubalis). This LINE-1 insertion (3' truncated and containing only 5' UTR) functions as a strong proximal promoter that leads to a 10-fold increase in the transcription of ASIP in white buffalo skin. The 165 bp of 5' UTR transcribed from the LINE-1 is spliced into the first coding exon of ASIP, resulting in a chimeric transcript. The increased expression of ASIP prevents melanocyte maturation, leading to the absence of pigment in white buffalo skin and hairs. Phylogenetic analyses indicate that the white buffalo-specific ASIP allele originated from a recent genetic transposition event in swamp buffalo. Interestingly, as a similar LINE-1 insertion has been identified in the cattle ASIP gene, we discuss the convergent mechanism of coat color evolution in the Bovini tribe.

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