Genomic analysis revealed a convergent evolution of LINE-1 in coat color: A case study in water buffaloes (Bubalus bubalis)

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dc.creatorLiang, D.
dc.creatorZhao, P.
dc.creatorSi, J.
dc.creatorFang, L.
dc.creatorPairo-Castineira, E.
dc.creatorHu, X.
dc.creatorXu, Q.
dc.creatorHou, Y.
dc.creatorGong, Y.
dc.creatorLiang, Z.
dc.creatorTian, B.
dc.creatorMao, H.
dc.creatorYindee, M.
dc.creatorFaruque, M.O.
dc.creatorKongvongxay, S.
dc.creatorKhamphoumee, S.
dc.creatorLiu, G.E.
dc.creatorWu, D.-D.
dc.creatorBarker, J.S.F.
dc.creatorHan Jianlin
dc.creatorZhang, Y.
dc.date2021-03-09
dc.date2020-12-01T08:11:19Z
dc.date2020-12-01T08:11:19Z
dc.date.accessioned2026-06-27T17:12:53Z
dc.descriptionVisible 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.
dc.identifierhttps://hdl.handle.net/10568/110363
dc.identifier.urihttp://hdl.handle.net/123456789/145636
dc.languageen
dc.publisherOxford University Press
dc.rightsOpen Access
dc.sourceLiang, D., Zhao, P., Si, J., Fang, L, Pairo-Castineira, E., Hu, X., Xu, Q., Hou, Y., Gong, Y., Liang, Z., Tian, B., Mao, H., Yindee, M., Faruque, M.O., Kongvongxay, S., Khamphoumee, S., Liu, G.E., Wu, D.-D., Barker, J.S.F., Han, J. and Zhang, Y. 2020. Genomic analysis revealed a convergent evolution of LINE-1 in coat color: A case study in water buffaloes (Bubalus bubalis). Molecular Biology and Evolution
dc.subjectwater buffaloes
dc.subjectgenetics
dc.subjectanimal breeding
dc.titleGenomic analysis revealed a convergent evolution of LINE-1 in coat color: A case study in water buffaloes (Bubalus bubalis)
dc.typeJournal Article

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