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Anim Genet. 2017 Oct;48(5):619-621. doi: 10.1111/age.12582. Epub 2017 Jul 24.

A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism.

Author information

1
Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland.
2
DermFocus, University of Bern, 3001, Bern, Switzerland.

Abstract

Oculocutaneous albinism type 4 (OCA4) in humans and similar phenotypes in many animal species are caused by variants in the SLC45A2 gene, encoding a putative sugar transporter. In dog, two independent SLC45A2 variants are known that cause oculocutaneous albinism in Doberman Pinschers and several small dog breeds respectively. For the present study, we investigated a Bullmastiff with oculocutaneous albinism. The affected dog was highly inbred and resulted from the mating of a sire to its own grandmother. We obtained whole genome sequence data from the affected dog and searched specifically for variants in candidate genes known to cause albinism. We detected a single base deletion in exon 6 of the SLC45A2 gene (NM_001037947.1:c.1287delC) that has not been reported thus far. This deletion is predicted to result in an early premature stop codon. It was confirmed by Sanger sequencing and perfectly co-segregated with the phenotype in the available family members. We genotyped 174 unrelated dogs from diverse breeds, all of which were homozygous wildtype. We therefore suggest that SLC45A2:c.1287delC causes the observed oculocutaneous albinism in the affected Bullmastiff.

KEYWORDS:

Canis lupus familiaris ; coat colour; cream; dog; melanocyte; pigmentation

PMID:
28737247
DOI:
10.1111/age.12582
[Indexed for MEDLINE]

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