Article
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.
Nature communications - 22 Jul 2014
Lynch Danielle C, Revil Timothée, Schwartzentruber Jeremy, Bhoj Elizabeth J, Innes A Micheil, Lamont Ryan E, Lemire Edmond G, Chodirker Bernard N, Taylor Juliet P, Zackai Elaine H, McLeod D Ross, Kirk Edwin P, Hoover-Fong Julie, Fleming Leah, Savarirayan Ravi, Majewski Jacek, Jerome-Majewska Loydie A, Parboosingh Jillian S, Bernier Francois P
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.