Sunday, July 31, 2011

The Cause of Shar Pei Mucinosis and Periodic Fever Syndrome

Olsson M, Meadows JRS, Truvé K et al. A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs. PLoS Genetics 2011; 7(3): e1001332. Abstract
PubMed ID (PMID): 2143727
Reprint: open access (click-to-view)
Comments: this is an important article that reports the elucidation of the cause of both Shar-Pei fever and cutaneous mucinosis (now: hyaluronanosis): duplications upstream from the gene HAS2, which encodes the hyaluronic acid synthase 2, result in hyperactivation of the gene and increased hyaluronic acid secretion. The paper is heavy in genetics, but the findings are important to understand the pathogenesis of this breed-specific trait and its association with the recurrent fever syndrome previously identified in this breed.