Structural and Epistatic Regulatory Variants Cause Hallmark White Spotting in Cattle

    November 2025 in “ Science Advances ”
    Swati Jivanji, Emma L. Wilkinson, Lijing Tang, Kathryn Tiplady, Anna Yeates, Chad Harland, Catherine Gray, Christine Couldrey, G.M. Worth, Isabelle Gamache, Jade Desjardins, John A. A. Tabares, Nobuko Yamanaka, L.R. McNaughton, Louise Brennan, Marie-Pier Cloutier, Mitra Cowan, Richard T. Ellison, Tony Fransen, Tracey Monehan, Richard Spelman, Russell G. Snell, Carole Charlier, Yojiro Yamanaka, Dorian J. Garrick, Richard L. Mort, Mathew D. Littlejohn
    TLDR Two gene variants cause white spots in cattle.
    The study identifies two genetic variants responsible for the white-spotted coat pattern in Holstein-Friesian and related cattle breeds, focusing on regulatory elements of the MITF and KIT genes. Researchers confirmed the causality of these variants using genetically edited mouse models and found that they also influence other coat patterns, such as speckling and "black socks." The study involved 242 white-spotted bulls and 135 Belgian-Blue animals, revealing the MITF SNP as a likely causative variant. Extensive genomic analysis of 1,126 dairy cattle showed that these variants interact with other loci to produce distinct coat patterns. The findings enhance understanding of coat pattern genetics in cattle and suggest that historical selection may have favored these variants for their unique phenotypic effects.
    Discuss this study in the Community →