Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome

@inproceedings{Lynch2014DisruptedAO,
  title={Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome},
  author={Danielle C. Lynch and Timoth{\'e}e Revil and Jeremy Schwartzentruber and Elizabeth J Bhoj and A Micheil Innes and Ryan E Lamont and Edmond G. Lemire and Bernard N. Chodirker and Juliet P. Taylor and E H Zackai and D R Mcleod and Edwin Philip Kirk and Julie E Hoover-Fong and Leah Fleming and Ravi Savarirayan and Kym M. Boycott and Alex E Mackenzie and Michael Brudno and Dennis E. Bulman and David A Dyment and Jacek Majewski and Loydie A Jerome-Majewska and Jillian S. Parboosingh and Francois P. Bernier},
  booktitle={Nature communications},
  year={2014}
}
Elucidating the function of highly conserved regulatory sequences is a significant challenge in genomics today. Certain intragenic highly conserved elements have been associated with regulating levels of core components of the spliceosome and alternative splicing of downstream genes. Here we identify mutations in one such element, a regulatory alternative exon of SNRPB as the cause of cerebro-costo-mandibular syndrome. This exon contains a premature termination codon that triggers nonsense… CONTINUE READING