Known insertion/deletion mutations in exon 9 of heat-shock transcription factor 4 are not responsible for juvenile hereditary cataract in Siberian Husky dogs.

Indel mutations in exon 9 of Heat-shock transcription factor 4 were found responsible for the autosomal recessive hereditary cataract of the Staffordshire Bull Terrier and Boston Terrier dogs as well as of the autosomal dominant form in Australian Shepherd dogs. With the aim of ascertain whether the same mutations were responsible of hereditary cataract in Siberian Husky dogs, a pedigree of this breed affected by hereditary cataract was investigated. The pedigree included 4 affected dogs and 8 healthy dogs. The region of interest in the exon 9 of Heat-shock transcription factor 4 locus of each dog were sequenced bidirectionally and genotyped. Neither homozygous nor heterozygous indels were found in any dog. Conversely, 2 homozygous synonymous T>C substitution (LOC489766:g.3038T>C and LOC489766:g.3041T>C) previously reported in the Entlebucher Mountain dog were found. Known mutations in exon 9 of Heat-shock transcription factor 4 locus is not the causative mutation of hereditary cataract in Siberian Husky dogs.