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Genomics. 2011 Apr;97(4):244-8. doi: 10.1016/j.ygeno.2011.01.003. Epub 2011 Jan 20.

A missense mutation in the 20S proteasome β2 subunit of Great Danes having harlequin coat patterning.

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Department of Genetics and Biochemistry, College of Agriculture, Forestry, and Life Sciences, Clemson University, Clemson, SC 29634-0318, USA.


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 β2 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 discernable phenotype of dogs.

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