Article
Human mutations in integrator complex subunits link transcriptome integrity to brain development.
PLoS genetics - 1 May 2017
Oegema Renske, Baillat David, Schot Rachel, van Unen Leontine M, Brooks Alice, Kia Sima Kheradmand, Hoogeboom A Jeannette M, Xia Zheng, Li Wei, Cesaroni Matteo, Lequin Maarten H, van Slegtenhorst Marjon, Dobyns William B, de Coo Irenaeus F M, Verheijen Frans W, Kremer Andreas, van der Spek Peter J, Heijsman Daphne, Wagner Eric J, Fornerod Maarten, Mancini Grazia M S
Abstract excerpt
Integrator is an RNA polymerase II (RNAPII)-associated complex that was recently identified to have a broad role in both RNA processing and transcription regulation. Importantly, its role in human development and disease is so far largely unexplored. Here, we provide evidence that biallelic Integrator Complex Subunit 1 (INTS1) and Subunit 8 (INTS8) gene mutations are associated with rare recessive human...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.