Article
The STAT3 HIES mutation is a gain-of-function mutation that activates genes via AGG-element carrying promoters.
Nucleic acids research - 15 Oct 2015
Xu Li, Ji Jin-Jun, Le Wangping, Xu Yan S, Dou Dandan, Pan Jieli, Jiao Yifeng, Zhong Tianfei, Wu Dehong, Wang Yumei, Wen Chengping, Xie Guan-Qun, Yao Feng, Zhao Heng, Fan Yong-Sheng, Chin Y Eugene
Abstract excerpt
Cytokine or growth factor activated STAT3 undergoes multiple post-translational modifications, dimerization and translocation into nuclei, where it binds to serum-inducible element (SIE, 'TTC(N3)GAA')-bearing promoters to activate transcription. The STAT3 DNA binding domain (DBD, 320-494) mutation in hyper immunoglobulin E syndrome (HIES), called the HIES mutation (R382Q, R382W or V463Δ), which elevates IgE...
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