Article
A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming.
Nature genetics - 1 May 2009
Fallon Padraic G, Sasaki Takashi, Sandilands Aileen, Campbell Linda E, Saunders Sean P, Mangan Niamh E, Callanan John J, Kawasaki Hiroshi, Shiohama Aiko, Kubo Akiharu, Sundberg John P, Presland Richard B, Fleckman Philip, Shimizu Nobuyoshi, Kudoh Jun, Irvine Alan D, Amagai Masayuki, McLean W H Irwin
Abstract excerpt
Loss-of-function mutations in the FLG (filaggrin) gene cause the semidominant keratinizing disorder ichthyosis vulgaris and convey major genetic risk for atopic dermatitis (eczema), eczema-associated asthma and other allergic phenotypes. Several low-frequency FLG null alleles occur in Europeans and Asians, with a cumulative frequency of approximately 9% in Europe. Here we report a 1-bp deletion mutation,...
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