Rothammer et al. (2017): "comparisons of the sequence of [the candidate] haplotype [see Genetic mapping section] with sequence data from four Braunvieh sires and the Aurochs genome identified two possible candidate causal mutations at positions 39,829,806 bp (G/A; R45Q) [omia.variant:847] and 39,864,148 bp (C/T; T444I) [omia.variant:848] that were absent in 1682 animals from various bovine breeds included in the 1000 bull genomes project. Both polymorphisms represent coding variants in the SLC45A2 gene, for which the human equivalent harbors numerous variants associated with oculocutaneous albinism type 4. . . . To determine which of the two mutations or even if the combination of both is causal for oculocutaneous albinism in Braunvieh, it would be necessary to produce additional cases and investigate them more precisely."
Fuller et a. (2025) investigated Dexter cattle with a dilute coat colour that did not have the TYRP1 variant known to cause dun coat colour in Dexter cattle (see OMIA:001249-9913 : Coat colour, brown, TYRP1-related for details). The authors "hypothesized that a novel recessive genotype is causative of [chocolate] on a black background and [cream] on a red background" and identified a missense variant in SLC45A2 (NC_037347.1: g.39790189A>C; XM_002696386.6: c.398A>C; XP_002696432.2: p.(Gln133Pro); omia.variant:1846) as likely causal variant.
