PUBLICATIONS

  • [PDF] [DOI] A. M. Fredericks, K. J. Cygan, B. A. Brown, and W. G. Fairbrother, “Rna-binding proteins: splicing factors and disease,” Biomolecules, vol. 5, iss. 2, pp. 893-909, 2015.
    [Bibtex] 
    @article{Fredericks:2015aa,
Abstract = {Pre-mRNA splicing is mediated by interactions of the Core Spliceosome and an array of accessory RNA binding proteins with cis-sequence elements. Splicing is a major regulatory component in higher eukaryotes. Disruptions in splicing are a major contributor to human disease. One in three hereditary disease alleles are believed to cause aberrant splicing. Hereditary disease alleles can alter splicing by disrupting a splicing element, creating a toxic RNA, or affecting splicing factors. One of the challenges of medical genetics is identifying causal variants from the thousands of possibilities discovered in a clinical sequencing experiment. Here we review the basic biochemistry of splicing, the mechanisms of splicing mutations, the methods for identifying splicing mutants, and the potential of therapeutic interventions.},
Author = {Fredericks, A. M. and Cygan, K. J. and Brown, B. A. and Fairbrother, W. G.},
Date-Modified = {2016-03-29 19:58:00 +0000},
Doi = {10.3390/biom5020893},
Issn = {2218-273X (Electronic) 2218-273X (Linking)},
Journal = {Biomolecules},
Keywords = {RNA-binding proteins motif splicing},
Number = {2},
Pages = {893-909},
Title = {RNA-Binding Proteins: Splicing Factors and Disease},
Type = {Journal Article},
Url = {http://www.ncbi.nlm.nih.gov/pubmed/25985083},
Volume = {5},
Year = {2015},
Bdsk-Url-1 = {http://www.ncbi.nlm.nih.gov/pubmed/25985083},
Bdsk-Url-2 = {http://dx.doi.org/10.3390/biom5020893}}
  • [PDF] [DOI] C. L. Lin, A. J. Taggart, K. H. Lim, K. J. Cygan, L. Ferraris, R. Creton, Y. T. Huang, and W. G. Fairbrother, “Rna structure replaces the need for u2af2 in splicing,” Genome res, vol. 26, iss. 1, pp. 12-23, 2016.
    [Bibtex] 
    @article{Lin:2016aa,
Abstract = {RNA secondary structure plays an integral role in catalytic, ribosomal, small nuclear, micro, and transfer RNAs. Discovering a prevalent role for secondary structure in pre-mRNAs has proven more elusive. By utilizing a variety of computational and biochemical approaches, we present evidence for a class of nuclear introns that relies upon secondary structure for correct splicing. These introns are defined by simple repeat expansions of complementary AC and GT dimers that co-occur at opposite boundaries of an intron to form a bridging structure that enforces correct splice site pairing. Remarkably, this class of introns does not require U2AF2, a core component of the spliceosome, for its processing. Phylogenetic analysis suggests that this mechanism was present in the ancestral vertebrate lineage prior to the divergence of tetrapods from teleosts. While largely lost from land dwelling vertebrates, this class of introns is found in 10% of all zebrafish genes.},
Author = {Lin, C. L. and Taggart, A. J. and Lim, K. H. and Cygan, K. J. and Ferraris, L. and Creton, R. and Huang, Y. T. and Fairbrother, W. G.},
Date-Modified = {2016-03-29 19:58:00 +0000},
Doi = {10.1101/gr.181008.114},
Issn = {1549-5469 (Electronic) 1088-9051 (Linking)},
Journal = {Genome Res},
Number = {1},
Pages = {12-23},
Title = {RNA structure replaces the need for U2AF2 in splicing},
Type = {Journal Article},
Url = {http://www.ncbi.nlm.nih.gov/pubmed/26566657},
Volume = {26},
Year = {2016},
Bdsk-Url-1 = {http://www.ncbi.nlm.nih.gov/pubmed/26566657},
Bdsk-Url-2 = {http://dx.doi.org/10.1101/gr.181008.114}}
  • [PDF] [DOI] G. Stracquadanio, X. Wang, M. D. Wallace, A. M. Grawenda, P. Zhang, J. Hewitt, J. Zeron-Medina, F. Castro-Giner, I. P. Tomlinson, C. R. Goding, K. J. Cygan, W. G. Fairbrother, L. F. Thomas, P. Saetrom, F. Gemignani, S. Landi, B. Schuster-Bockler, D. A. Bell, and G. L. Bond, “The importance of p53 pathway genetics in inherited and somatic cancer genomes,” Nat rev cancer, vol. 16, iss. 4, pp. 251-65, 2016.
    [Bibtex] 
    @article{Stracquadanio:2016aa,
Abstract = {Decades of research have shown that mutations in the p53 stress response pathway affect the incidence of diverse cancers more than mutations in other pathways. However, most evidence is limited to somatic mutations and rare inherited mutations. Using newly abundant genomic data, we demonstrate that commonly inherited genetic variants in the p53 pathway also affect the incidence of a broad range of cancers more than variants in other pathways. The cancer-associated single nucleotide polymorphisms (SNPs) of the p53 pathway have strikingly similar genetic characteristics to well-studied p53 pathway cancer-causing somatic mutations. Our results enable insights into p53-mediated tumour suppression in humans and into p53 pathway-based cancer surveillance and treatment strategies.},
Author = {Stracquadanio, G. and Wang, X. and Wallace, M. D. and Grawenda, A. M. and Zhang, P. and Hewitt, J. and Zeron-Medina, J. and Castro-Giner, F. and Tomlinson, I. P. and Goding, C. R. and Cygan, K. J. and Fairbrother, W. G. and Thomas, L. F. and Saetrom, P. and Gemignani, F. and Landi, S. and Schuster-Bockler, B. and Bell, D. A. and Bond, G. L.},
Date-Modified = {2016-03-29 19:58:00 +0000},
Doi = {10.1038/nrc.2016.15},
Issn = {1474-1768 (Electronic) 1474-175X (Linking)},
Journal = {Nat Rev Cancer},
Number = {4},
Pages = {251-65},
Title = {The importance of p53 pathway genetics in inherited and somatic cancer genomes},
Type = {Journal Article},
Url = {http://www.ncbi.nlm.nih.gov/pubmed/27009395},
Volume = {16},
Year = {2016},
Bdsk-Url-1 = {http://www.ncbi.nlm.nih.gov/pubmed/27009395},
Bdsk-Url-2 = {http://dx.doi.org/10.1038/nrc.2016.15}}