Article
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 - 1 Mar 2011
Olsson Mia, Meadows Jennifer R S, Truvé Katarina, Rosengren Pielberg Gerli, Puppo Francesca, Mauceli Evan, Quilez Javier, Tonomura Noriko, Zanna Giordana, Docampo Maria José, Bassols Anna, Avery Anne C, Karlsson Elinor K, Thomas Anne, Kastner Daniel L, Bongcam-Rudloff Erik, Webster Matthew T, Sanchez Armand, Hedhammar Ake, Remmers Elaine F, Andersson Leif, Ferrer Lluis, Tintle Linda, Lindblad-Toh Kerstin
Abstract excerpt
Hereditary periodic fever syndromes are characterized by recurrent episodes of fever and inflammation with no known pathogenic or autoimmune cause. In humans, several genes have been implicated in this group of diseases, but the majority of cases remain unexplained. A similar periodic fever syndrome is relatively frequent in the Chinese Shar-Pei breed of dogs. In the western world, Shar-Pei have been strongly...
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