Figure 1. Identification of the SHGC-causing mutation in CEP250.

(a) General feature of mutant cows. Left picture: backs of mutant (left) and wild-type cows (right). Right pictures: top, mutant cow with typical elongated caprine-like long and thin head with ears' depigmentation; bottom: wild-type cow. (b) Evidence for linkage (y axis) is measured as log(1/P), with P being determined by the 50,000 locus (ASSHOM) permutations (see Methods), leading to the identification of a 2.5-Mb shared region between markers BTA13 rs109267613 and rs109957099. Below, list of the analysed markers present in this region, including the microsatellites (in green) used in the initial mapping study. (c) The CEP250 gene comprises 32 coding exons. The comprised 5′ and 3′ untranslated regions are depicted in white. Location of the observed mutation is indicated. (d) Chromatograms of the obtained sequences covering the mutation.