Article
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
Nature genetics - 1 Apr 2015
Izumi Kosuke, Nakato Ryuichiro, Zhang Zhe, Edmondson Andrew C, Noon Sarah, Dulik Matthew C, Rajagopalan Ramakrishnan, Venditti Charles P, Gripp Karen, Samanich Joy, Zackai Elaine H, Deardorff Matthew A, Clark Dinah, Allen Julian L, Dorsett Dale, Misulovin Ziva, Komata Makiko, Bando Masashige, Kaur Maninder, Katou Yuki, Shirahige Katsuhiko, Krantz Ian D
Abstract excerpt
Transcriptional elongation is critical for gene expression regulation during embryogenesis. The super elongation complex (SEC) governs this process by mobilizing paused RNA polymerase II (RNAP2). Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.