A New <scp> <i>TYR</i> </scp> Splice Donor Variant Causing Oculocutaneous Albinism Type I in Angus Cattle

The authors declare no conflicts of interest. The variant data for this study have been deposited in the European Variation Archive (EVA) at EMBL-EBI under accession number PRJEB80029 (https://www.ebi.ac.uk/eva/?eva-study=PRJEB80029). Figure S1: Close-up images of affected calf 1 (A) and affected calf 2 (B), showing pink irises and constricted pupils, together with an albino coat phenotype. Figure S2: Region of homozygosity (ROH) analysis, where coloured lines represent runs of homozygosity in each animal. A shared ROH of > 10 Mbps and encompassing the TYR locus (AC_000186.1:6340841–6473276, indicated by a black arrow) was present in both affected animals. This ROH is absent in the Angus control animal and in all three parents (the two dams not shown as no ROH was detected on chromosome 29). Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

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Publication Details

Journal
Animal Genetics
Published
2026-05-08
DOI
https://doi.org/10.1002/age.70119
Primary Topic
melanin and skin pigmentation
Type
article
Field-Weighted Citation Impact
0.00

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article

A New TYR Splice Donor Variant Causing Oculocutaneous Albinism Type I in Angus Cattle

Phillip D. Carter, Lillian Brancalion, Imke Tammen, Cali E. Willet et al.
Animal Genetics
melanin and skin pigmentation
article

A New TYR Splice Donor Variant Causing Oculocutaneous Albinism Type I in Angus Cattle

Phillip D. Carter, Lillian Brancalion, Imke Tammen, Cali E. Willet, Brendon A. O’Rourke, Katie L. M. Eager
article en

Abstract

The authors declare no conflicts of interest. The variant data for this study have been deposited in the European Variation Archive (EVA) at EMBL-EBI under accession number PRJEB80029 (https://www.ebi.ac.uk/eva/?eva-study=PRJEB80029). Figure S1: Close-up images of affected calf 1 (A) and affected calf 2 (B), showing pink irises and constricted pupils, together with an albino coat phenotype. Figure S2: Region of homozygosity (ROH) analysis, where coloured lines represent runs of homozygosity in each animal. A shared ROH of > 10 Mbps and encompassing the TYR locus (AC_000186.1:6340841–6473276, indicated by a black arrow) was present in both affected animals. This ROH is absent in the Angus control animal and in all three parents (the two dams not shown as no ROH was detected on chromosome 29). Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Animal GeneticsVol. 57(3)
The University of Sydney (AU), New South Wales Department of Primary Industries (AU), Department of Primary Industries and Regional Development (AU)
NSW Department of Primary Industries
Openalex Percentile: Top 9%
melanin and skin pigmentation
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A New <scp> <i>TYR</i> </scp> Splice Donor Variant Causing Oculocutaneous Albinism Type I in Angus Cattle — Phillip D. Carter, Lillian Brancalion, et al. · Animal Genetics (2026) | TGRS Research Map | TGRS