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

	Genomic Analysis Revealed a Convergent Evolution of LINE-1 in Coat Color: A Case Study in Water Buffaloes (Bubalus bubalis)
	Liang, D; Zhao, PJ; Si, JF; Fang, LZ; Pairo-Castineira, E; Hu, XX; Xu, Q; Hou, YL; Gong, Y; Liang, ZW; Tian, B; Mao, HM; Yindee, M; Faruque, MO; Kongvongxay, S; Khamphoumee, S; Liu, GE; Wu, DD; Barker, JSF; Han, JL; Zhang, Y
	2021
发表期刊	MOLECULAR BIOLOGY AND EVOLUTION
ISSN	0737-4038
卷号	38 期号:3 页码:1122-1136
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.
收录类别	sci
语种	英语
文献类型	期刊论文
条目标识符	http://ir.kiz.ac.cn/handle/152453/13565
专题	科研部门_进化与发育转录组学（吴东东）
推荐引用方式 GB/T 7714	Liang, D,Zhao, PJ,Si, JF,et al. Genomic Analysis Revealed a Convergent Evolution of LINE-1 in Coat Color: A Case Study in Water Buffaloes (Bubalus bubalis)[J]. MOLECULAR BIOLOGY AND EVOLUTION,2021,38(3):1122-1136.
APA	Liang, D.,Zhao, PJ.,Si, JF.,Fang, LZ.,Pairo-Castineira, E.,...&Zhang, Y.(2021).Genomic Analysis Revealed a Convergent Evolution of LINE-1 in Coat Color: A Case Study in Water Buffaloes (Bubalus bubalis).MOLECULAR BIOLOGY AND EVOLUTION,38(3),1122-1136.
MLA	Liang, D,et al."Genomic Analysis Revealed a Convergent Evolution of LINE-1 in Coat Color: A Case Study in Water Buffaloes (Bubalus bubalis)".MOLECULAR BIOLOGY AND EVOLUTION 38.3(2021):1122-1136.

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