title: Mapping the mutation causing lens luxation in several terrier breeds.
abstract: 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 P(max) = 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.
authors.affiliation: Department of Veterinary Medicine, University of Cambridge Veterinary School, Cambridge, UK. drs20@cam.ac.uk
authors.forename: David R
authors.initials: DR
authors.lastname: Sargan
authors.forename: David
authors.initials: D
authors.lastname: Withers
authors.forename: Louise
authors.initials: L
authors.lastname: Pettitt
authors.forename: Michael
authors.initials: M
authors.lastname: Squire
authors.forename: David J
authors.initials: DJ
authors.lastname: Gould
authors.forename: Cathryn S
authors.initials: CS
authors.lastname: Mellersh
mesh_terms: D000818:Animals; D002874:Chromosome Mapping; D004285:Dogs / Q000235:genetics*; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D007906:Lens Subluxation / Q000235:genetics*; D007908:Lens, Crystalline; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D010750:Phosphoproteins / Q000235:genetics; D013045:Species Specificity
chemical_list: D005819:Genetic Markers; D008565:Membrane Proteins; D010750:Phosphoproteins