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A Novel Unstable Duplication Upstream of HAS2 Predisposes to a Breed-Defining Skin Phenotype and a Periodic Fever Syndrome in Chinese Shar-Pei Dogs

Figure 1

The phenotypic spectrum of the Chinese Shar-Pei.

Following strong selection for the “wrinkled” skin phenotype, Shar-Pei dogs in the western world most commonly present as the meatmouth type (A–C). The traditional type of Shar-Pei (D) is the ancestral version and is still common in China. The characteristic skin is a result of a deposition of mucin, mainly hyaluronic acid (HA), in the upper dermis of the skin. The deposit collects in certain areas of Shar-Pei skin and often as “socks” around the hocks (E). The meatmouth Shar-Pei (A–C) is also predisposed to a breed-specific periodic fever syndrome called Familial Shar-Pei Fever (FSF).

Figure 1

doi: https://doi.org/10.1371/journal.pgen.1001332.g001