Liang, Dong

Zhao, Pengju

Si, Jingfang

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

Zhang, Yi

2021-03

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 <i>ASIP</i> (agouti signaling protein) gene is the causative mutation for the white coat phenotype in swamp buffalo (<i>Bubalus bubalis</i>). 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 <i>ASIP</i> in white buffalo skin. The 165 bp of 5' UTR transcribed from the LINE-1 is spliced into the first coding exon of <i>ASIP</i>, resulting in a chimeric transcript. The increased expression of <i>ASIP</i> prevents melanocyte maturation, leading to the absence of pigment in white buffalo skin and hairs. Phylogenetic analyses indicate that the white buffalo-specific <i>ASIP</i> allele originated from a recent genetic transposition event in swamp buffalo. Interestingly, as a similar LINE-1 insertion has been identified in the cattle <i>ASIP</i> gene, we discuss the convergent mechanism of coat color evolution in the Bovini tribe.

Molecular Biology and Evolution, 38(3), p. 1122-1136

1537-1719

0737-4038

33212507

https://hdl.handle.net/1959.11/31543

en

Oxford University Press

Attribution-NonCommercial 4.0 International

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

Journal Article

Publication