Article
Molecular effects of autoimmune-risk promoter polymorphisms on expression, exon choice, and translational efficiency of interferon regulatory factor 5.
Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research - 1 May 2014
Clark Daniel N, Lambert Jared P, Till Rodney E, Argueta Lissenya B, Greenhalgh Kathryn E, Henrie Brandon, Bills Trieste, Hawkley Tyson F, Roznik Marinya G, Sloan Jason M, Mayhew Vera, Woodland Loc, Nelson Eric P, Tsai Meng-Hsuan, Poole Brian D
Abstract excerpt
The rs2004640 single nucleotide polymorphism and the CGGGG copy-number variant (rs77571059) are promoter polymorphisms within interferon regulatory factor 5 (IRF5). They have been implicated as susceptibility factors for several autoimmune diseases. IRF5 uses alternative promoter splicing, where any of 4 first exons begin the mRNA. The CGGGG indel is in exon 1A's promoter; the rs2004640 allele creates a splicing...
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