title: Identification of mutations in HSF4 in dogs of three different breeds with hereditary cataracts.
abstract: Cataracts are a leading cause of blindness in both dogs and humans. Mutations in several genes have been associated with inherited forms of human cataract, but no mutations have been identified as the cause of any form of canine inherited cataract. We have used a candidate gene approach to investigate 20 genes, known to be associated with cataract in humans, for their potential association with the development of hereditary cataract (HC) in dogs. We have identified mutations in the HSF4 gene in Staffordshire Bull Terriers, Boston Terriers and Australian Shepherds affected by HC. Interestingly, different mutations in this single gene may be causing a recessive form of cataract in Staffordshire Bull Terriers and Boston Terriers and a dominant cataract in Australian Shepherds. Identification of the mutations that cause HC in these three breeds provides a method of controlling the disease within populations at risk using a simple diagnostic test, and also establishes cataract in these breeds as models for their human counterparts.
authors.affiliation: Centre for Preventive Medicine, Animal Health Trust, Lanwades Park, Kentford, Newmarket, Suffolk, CB7 7UU, UK. cathryn.mellersh@aht.org.uk
authors.forename: Cathryn S
authors.initials: CS
authors.lastname: Mellersh
authors.forename: Louise
authors.initials: L
authors.lastname: Pettitt
authors.forename: Oliver P
authors.initials: OP
authors.lastname: Forman
authors.forename: Mark
authors.initials: M
authors.lastname: Vaudin
authors.forename: Keith C
authors.initials: KC
authors.lastname: Barnett
mesh_terms: D000818:Animals; D001483:Base Sequence; D016022:Case-Control Studies; D002386:Cataract / Q000235:genetics / Q000662:veterinary*; D017931:DNA Primers; D018076:DNA, Complementary / Q000032:analysis; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs; D015785:Eye Diseases, Hereditary / Q000662:veterinary; D020022:Genetic Predisposition to Disease; D006360:Heat-Shock Proteins / Q000235:genetics*; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000662:veterinary
chemical_list: D017931:DNA Primers; D018076:DNA, Complementary; D006360:Heat-Shock Proteins