Listening to silence and understanding nonsense: exonic mutations that affect splicing

By Luca Cartegni, S. Chew, Adrian R. Krainer. Nature reviews genetics, 2002

2,297 citations recorded by the source corpus.

View Paper: https://www.semanticscholar.org/paper/c5fe3b6a92d87bf8dd0bd2b7f0ec0744e3452562

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In Molecular Biology

Citations in the corpus

Splicing in disease: disruption of the splicing code and the decoding machinery (2007, background): “The best characterized ESEs promote splicing by binding to the SR protein family, whereas the best characterized ESSs and ISSs repress splicing by binding to heterogeneous nuclear ribonucleoproteins ( hnRNPs”
Alternative splicing: new insights from global analyses. (2006, background): “These results support the view that, although AS-coupled NMD may not play a widespread role in gene regulation, this process may serve to fine tune the levels of specific classes of factors, including subsets of splicing factors and other RNA binding proteins.”
Variation in alternative splicing across human tissues (2004, background): “In addition to many differences between tissues in transcriptional and translational regulation of genes, alternative pre-mRNA splicing (AS) is also frequently used to regulate gene expression and to generate tissue-specific mRNA and protein isoforms [1-5].”
Understanding the contribution of synonymous mutations to human disease (2011, background): “Considerable evidence has accumulated over the past decade to show that synonymous mutations can result in aberrant mRNA splicing , which can lead to human diseas”
Comparative analysis identifies exonic splicing regulatory sequences--The complex definition of enhancers and silencers. (2006, background): “These cis-acting elements are relatively short, usually 4–18 nucleotides (Cartegni et al., 2002; Fairbrother et al., 2002).”
A highly conserved program of neuronal microexons is misregulated in autistic brains (2014, background): “Human disease mutations often disrupt cis-elements that control splicing and result in aberrant AS patterns (Cartegni et al., 2002).”
Computational definition of sequence motifs governing constitutive exon splicing. (2004, background): “Mutations in the hprt gene were collected from O’Neil et al. (1998) and Tu et al. (2000); mutations in other genes were taken from those collected by Cartegni et al. (2002).”
The spliceosome: design principles of a dynamic RNP machine. (2009, background): “Recognition and selection of splice sites is in most cases influenced by flanking pre-mRNA regulatory sequences—so-called intronic and exonic splicing enhancers or silencers—that can have positive or negative effects on splice-site usage (Cartegni et al., 2002; Singh and Valcarcel, 2005).”
Human Splicing Finder: an online bioinformatics tool to predict splicing signals (2009, background): “Understanding how splicing is regulated is thus crucial, particularly in a medical context, since genomic variations which cause aberrant splicing may represent up to 50% of all mutations that lead to gene dysfunction (6).”
Understanding alternative splicing: towards a cellular code (2005, background): “The importance of accurate splicing is illustrated by the fact that at least 15%, and perhaps as many as 50%, of human genetic diseases arise from mutations either in consensus splice site sequences or in the more variable auxiliary elements known as exon and intron splicing ENHANCERS (ESEs and IS”
Pre-mRNA splicing and human disease. (2003, background): “Cis-acting mutations have been tabulated in several reviews and the Human Gene Mutation Database (HGMD, http://www.uwcm.ac.uk/uwcm/ mg/hgmd0.html; Nakai and Sakamoto 1994; Cooper et al. 1995; Rogan et al. 1998; Caceres and Kornblihtt 2002; Cartegni et al. 2002).”
Comprehensive Analysis of Alternative Splicing Across Tumors from 8,705 Patients (2018, background): “In this work, we focus on five types of alternative splicing events, namely intron retention, exon skipping, mutually exclusive exons, and alternative 30 and alternative 50 splice site changes (Cartegni et al., 2002; Hatje et al., 2017; Roy et al., 2013; Wang et al., 2008).”