Open Access Research

Exclusion of eleven candidate genes for ocular melanosis in cairn terriers

Paige A Winkler1, Joshua T Bartoe1, Celeste R Quinones1, Patrick J Venta2 and Simon M Petersen-Jones1*

Author Affiliations

1 Department of Small Animal Clinical Sciences, College of Veterinary Medicine, Michigan State University, 48824, East Lansing, MI, USA

2 Department of Microbiology and Molecular Genetics, Michigan State University, 48824, East Lansing, MI, USA

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Journal of Negative Results in BioMedicine 2013, 12:6  doi:10.1186/1477-5751-12-6

Published: 1 March 2013

Abstract

Background

Ocular melanosis of Cairn terrier dogs is an inherited defect characterized by progressive pigmentation of both eyes which can result in glaucoma and blindness. Pedigree analysis suggests the trait has an autosomal dominant mode of inheritance. We selected 11 potential candidate genes and used an exclusion analysis approach to investigate the likelihood that one of the candidate gene loci contained the Cairn terrier-ocular melanosis locus.

Results

Two polymorphic loci were identified within or close to each candidate gene. Genotyping of at least 10 ocular melanosis Cairn terriers for each marker showed that there was no single shared allele for either of the two polymorphic markers identified in ASIP, COMT, GPNMB, GSK3B, LYST, MC1R, MITF, SILV, TYR, TYRP1,and TYRP2. This is strong evidence to exclude each locus as the site of the ocular melanosis mutation (probability of a false exclusion calculated for each gene ranged from 1.59 × 10-4 to 1 × 10-9).

Conclusions

None of the 11 potential candidate genes selected are likely to be the gene locus for ocular melanosis in Cairn terriers.

Keywords:
Dog; Glaucoma; Ocular melanosis; Pigmentary glaucoma; Candidate gene