Human mutations in integrator complex subunits link transcriptome integrity to brain development

@inproceedings{Oegema2017HumanMI,
  title={Human mutations in integrator complex subunits link transcriptome integrity to brain development},
  author={Renske Oegema and David Baillat and Rachel Schot and Leontine van Unen and Alice S. Brooks and Sima Kheradmand Kia and A. Jeannette M. Hoogeboom and Zheng Xia and Wei Li and Matteo Cesaroni and Maarten H. Lequin and Marjon A van Slegtenhorst and William B Dobyns and Irenaeus F M de Coo and Frans W. Verheijen and Andreas Kremer and Peter J van der Spek and Daphne Heijsman and Elizabeth E. Wagner and Maarten Fornerod and Grazia M S Mancini},
  booktitle={PLoS genetics},
  year={2017}
}
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 neurodevelopmental syndromes. Three unrelated individuals of Dutch ancestry showed the same… CONTINUE READING
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