Article
The MUC5B-associated variant rs35705950 resides within an enhancer subject to lineage- and disease-dependent epigenetic remodeling.
JCI insight - 25 Jan 2021
Gally Fabienne, Sasse Sarah K, Kurche Jonathan S, Gruca Margaret A, Cardwell Jonathan H, Okamoto Tsukasa, Chu Hong W, Hou Xiaomeng, Poirion Olivier B, Buchanan Justin, Preissl Sebastian, Ren Bing, Colgan Sean P, Dowell Robin D, Yang Ivana V, Schwartz David A, Gerber Anthony N
Abstract excerpt
The G/T transversion rs35705950, located approximately 3 kb upstream of the MUC5B start site, is the cardinal risk factor for idiopathic pulmonary fibrosis (IPF). Here, we investigate the function and chromatin structure of this -3 kb region and provide evidence that it functions as a classically defined enhancer subject to epigenetic programming. We use nascent transcript analysis to show that RNA polymerase II...
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