Open AccessLong-range Pitx2c enhancer–promoter interactions prevent predisposition to atrial fibrillation
Author(s) -
Min Zhang,
Matthew C. Hill,
Zachary A. Kadow,
Ji Ho Suh,
Nathan R. Tucker,
Amelia Weber Hall,
Tien T. Tran,
Paul S. Swinton,
John P. Leach,
Kenneth B. Margulies,
Patrick T. Ellinor,
Na Li,
James F. Martin
Publication year - 2019
Publication title -
proceedings of the national academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.011
H-Index - 771
eISSN - 1091-6490
pISSN - 0027-8424
DOI - 10.1073/pnas.1907418116
Subject(s) - enhancer , ctcf , chromatin , biology , transcription factor , genetics , chromatin immunoprecipitation , chromosome conformation capture , promoter , gene , gene expression
Significance Noncoding single-nucleotide polymorphisms (SNPs) associated with atrial fibrillation (AF) remain poorly understood. Significant AF-associated risk variants are located upstream ofPITX2 . No functional evidence directly links this noncoding region toPITX2 expression and AF. We identified a murinePitx2 enhancer, the deletion of which results in AF predisposition providing insight into how noncoding variants at 4q25 promote AF.
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