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Journal of Heredity Advance Access published online on June 15, 2007
Journal of Heredity, doi:10.1093/jhered/esm029
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© The American Genetic Association. 2007. All rights reserved. For permissions, please email: journals.permissions@oxfordjournals.org.

Mapping the Mutation Causing Lens Luxation in Several Terrier Breeds

David R. Sargan, David Withers, Louise Pettitt, Michael Squire, David J. Gould, and Cathryn S. Mellersh

Department of Veterinary Medicine, University of Cambridge Veterinary School, Cambridge, UK (Sargan, Withers, Squire); Centre for Preventive Medicine, Animal Health Trust, Newmarket, Suffolk, UK (Withers, Pettitt, Mellersh); and Davies Veterinary Specialists, Manor Farm Business Park, Higham Gobion, Herts, UK (Gould)

Address correspondence to D. R. Sargan at the address above, or e-mail: drs20{at}cam.ac.uk.

Primary lens luxation (PLL), a painful and blinding inherited condition, is common in several breeds of terrier. Here we have examined the Veterinary Medical Database of patient encounters and Canine Eye Registration Foundation (CERF) cases records for the last 10 years and found the diagnosis recorded in 85 breeds. We have performed association analysis using a genome-wide microsatellite screen to map mutations underlying the condition in miniature bull terriers and Lancashire heelers. These studies show microsatellite alleles in disequilibrium with disease status with highest support in a 6.3-Mbp region in the central part of chromosome 3 (–log Pmax = 6.4). The same region also shows an association to the disease in Tibetan terriers. Tight junction protein-1 (TJP1) is a positional candidate to contain the PLL mutation. All recognized exons and splice junctions of TJP1 have been sequenced from affected, obligate carrier and control Lancashire heeler dogs. Several polymorphisms have been found, but these are not likely to cause the disease.

Corresponding Editor: Urs Giger


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