4.6 Article

Variants at the ASIP locus contribute to coat color darkening in Nellore cattle

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

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Summary: This study revealed that a 2,809-bp-long LINE-1 insertion in the ASIP gene is the causative mutation for the white coat phenotype in swamp buffalo. This LINE-1 insertion acts as a strong proximal promoter leading to increased transcription of ASIP, which prevents melanocyte maturation and results in absence of pigment in white buffalo skin and hairs. Phylogenetic analyses suggest the white buffalo-specific ASIP allele originated from a recent genetic transposition event. Furthermore, a similar LINE-1 insertion was identified in the cattle ASIP gene, indicating a convergent mechanism of coat color evolution in the Bovini tribe.

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