Email updates

Keep up to date with the latest news and content from Genome Biology and BioMed Central.

Review

Exon identity crisis: disease-causing mutations that disrupt the splicing code

Timothy Sterne-Weiler1 and Jeremy R Sanford2*

Author Affiliations

1 Banting and Best Department of Medical Research, University of Toronto, 160 College St, Toronto, ON M5S 3E1, Canada

2 Department of Molecular, Cellular and Developmental Biology, University of California Santa Cruz, 1156 High Street, Santa Cruz, CA 95060, USA

For all author emails, please log on.

Genome Biology 2014, 15:201  doi:10.1186/gb4150

Published: 23 January 2014

Abstract

Cis-acting RNA elements control the accurate expression of human multi-exon protein coding genes. Single nucleotide variants altering the fidelity of this regulatory code and, consequently, pre-mRNA splicing are expected to contribute to the etiology of numerous human diseases.