A missense mutation in the 20S proteasome beta 2 subunit of Great Danes having harlequin coat patterning

作者：Clark Leigh Anne^*; Tsai Kate L; Starr Alison N; Nowend Keri L; Murphy Keith E

来源：Genomics, 2011, 97(4): 244-248.

DOI：10.1016/j.ygeno.2011.01.003

• Canine
• Harlequin
• Merle
• PSMB7
• SILV

Harlequin is a pigmentary trait of the domestic dog that is controlled by two autosomal loci: the melanosomal gene, SILV, and a modifier gene, harlequin (H), previously localized to chromosome 9. Heterozygosity for a retrotransposon insertion in SILV and a mutation in H causes a pattern of black patches on a white background. Homozygosity for H is embryonic lethal. Fine mapping of the harlequin locus revealed a 25 kb interval wherein all harlequin Great Danes are heterozygous for a common haplotype. This region contains one gene, PSMB7, which encodes the beta 2 catalytic subunit of the proteasome. Sequence analysis identified a coding variant in exon 2 that segregates with harlequin patterning. The substitution predicts the replacement of a highly conserved valine with a glycine. Described herein is the identification of a naturally-occurring mutation of the ubiquitin proteasome system that is associated with a discemable phenotype of dogs.

• 出版日期2011-4