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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-07-22

AUTHORS

Danielle C. Lynch, Timothée Revil, Jeremy Schwartzentruber, Elizabeth J. Bhoj, A. Micheil Innes, Ryan E. Lamont, Edmond G. Lemire, Bernard N. Chodirker, Juliet P. Taylor, Elaine H. Zackai, D. Ross McLeod, Edwin P. Kirk, Julie Hoover-Fong, Leah Fleming, Ravi Savarirayan, Kym Boycott, Alex MacKenzie, Michael Brudno, Dennis Bulman, David Dyment, Jacek Majewski, Loydie A. Jerome-Majewska, Jillian S. Parboosingh, Francois P. Bernier

ABSTRACT

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-mediated mRNA decay when included in the transcript. These mutations cause increased inclusion of the alternative exon and decreased overall expression of SNRPB. We provide evidence for the functional importance of this conserved intragenic element in the regulation of alternative splicing and development, and suggest that the evolution of such a regulatory mechanism has contributed to the complexity of mammalian development. More... »

PAGES

4483

Journal

TITLE

Nature Communications

ISSUE

1

VOLUME

5

Author Affiliations

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ncomms5483

DOI

http://dx.doi.org/10.1038/ncomms5483

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1010301985

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25047197


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