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

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    Author
    Lynch, DC; Revil, T; Schwartzentruber, J; Bhoj, EJ; Innes, AM; Lamont, RE; Lemire, EG; Chodirker, BN; Taylor, JP; Zackai, EH; ...
    Date
    2014-07-01
    Source Title
    Nature Communications
    Publisher
    NATURE PUBLISHING GROUP
    University of Melbourne Author/s
    Savarirayan, Ravi
    Affiliation
    Paediatrics (RCH)
    Metadata
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    Document Type
    Journal Article
    Citations
    Lynch, D. C., Revil, T., Schwartzentruber, J., Bhoj, E. J., Innes, A. M., Lamont, R. E., Lemire, E. G., Chodirker, B. N., Taylor, J. P., Zackai, E. H., McLeod, D. R., Kirk, E. P., Hoover-Fong, J., Fleming, L., Savarirayan, R., Majewski, J., Jerome-Majewska, L. A., Parboosingh, J. S. & Bernier, F. P. (2014). Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome. NATURE COMMUNICATIONS, 5 (1), https://doi.org/10.1038/ncomms5483.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/256379
    DOI
    10.1038/ncomms5483
    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.

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