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

Caduff, M; Bauer, Anina; Jagannathan, Vidhya; Leeb, Tosso (2017). A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism. Animal genetics, 48(5), pp. 619-621. Blackwell 10.1111/age.12582

	Text Caduff_et_al-2017-Animal_Genetics.pdf - Published Version Restricted to registered users only Available under License Publisher holds Copyright. Download (286kB)
Preview	Text Anim_Genet_2017_Vol48_pp619_621_accepted_version.pdf - Accepted Version Available under License Publisher holds Copyright. Download (422kB) | Preview

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.

Interest & Impact

Downloads

39 since deposited on 08 Nov 2017
16 in the past 12 months

Citations

5 Citations in Web of Science ®
6 Citations in Scopus

Search

in Google Scholar™

Services

Actions (login required)

Edit item

Actions (login required)

Edit item