Structural and epistatic regulatory variants cause hallmark white spotting in cattle.

doi:10.1126/sciadv.adt5913

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Article

Structural and epistatic regulatory variants cause hallmark white spotting in cattle.

Science advances - 14 Nov 2025

Jivanji Swati, Wilkinson Emma, Tang Lijing, Tiplady Kathryn M, Yeates Anna, Harland Chad, Gray Charlotte, Couldrey Christine, Worth Gemma, Gamache Isabelle, Desjardins Jade, Tabares John A A, Yamanaka Nobuko, McNaughton Lorna, Brennan Louise, Cloutier Marie-Pier, Cowan Mitra, Ellison Renae, Fransen Tony, Monehan Tracey, Spelman Richard J, Snell Russell G, Charlier Carole, Yamanaka Yojiro, Garrick Dorian, Mort Richard, Littlejohn Mathew D

Abstract excerpt

Despite being one of the most iconic and immediately recognizable traits in domestic cattle, the variants underpinning the white-spotted coat pattern of Holstein-Friesian and related breeds remain uncharacterized. Here, we report two variants modulating these effects, comprising intronic and long-distance-acting regulatory variants of the MITF and KIT genes. We confirm causality through "Holsteinized" mouse...

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Identifiers

PMID: 41237223
DOI: 10.1126/sciadv.adt5913
PMCID: PMC12617462

Genes

KIT
MITF

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