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

Cartegni, L., Chew, S. L., Krainer, A. R. (April 2002) Listening to silence and understanding nonsense: Exonic mutations that affect splicing. Nature Reviews Genetics, 3 (4). pp. 285-298. ISSN 1471-0056

URL: http://www.ncbi.nlm.nih.gov/pubmed/11967553
DOI: 10.1038/nrg775

Abstract

Point mutations in the coding regions of genes are commonly assumed to exert their effects by altering single amino acids in the encoded proteins. However, there is increasing evidence that many human disease genes harbour exonic mutations that affect pre-mRNA splicing. Nonsense, missense and even translationally silent mutations can inactivate genes by inducing the splicing machinery to skip the mutant exons. Similarly, coding-region single-nucleotide polymorphisms might cause phenotypic variability by influencing splicing accuracy or efficiency. As the splicing mechanisms that depend on exonic signals are elucidated, new therapeutic approaches to treating certain genetic diseases can begin to be explored.

Item Type: Paper
Subjects: bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification
bioinformatics > genomics and proteomics > genetics & nucleic acid processing
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > exons > exon splicing
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > exons
CSHL Authors:
Communities: CSHL labs > Krainer lab
Depositing User: Matt Covey
Date: April 2002
Date Deposited: 10 Dec 2013 15:17
Last Modified: 10 Dec 2013 15:17
Related URLs:
URI: http://repository.cshl.edu/id/eprint/28683

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