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 regulatory variants in the <i>MITF</i> and <i>KIT</i> genes that are responsible for the white-spotted coat pattern in Holstein-Friesian and related cattle breeds. These variants were confirmed to cause the trait through experiments using genetically edited "Holsteinized" mouse models. The research suggests that these variants also influence other bovine coat patterns, including fine-scale speckling, "black socks," and the reversal of the dominant "white-face" trait seen in Hereford cattle.
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