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

Genome Biol. 2014 Jan 23;15(1):201. doi: 10.1186/gb4150.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Alternative Splicing / genetics*
  • Exons*
  • Genetic Variation
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Mutation*
  • Neoplasms / genetics
  • Polymorphism, Single Nucleotide
  • RNA Precursors / genetics
  • Sequence Analysis, DNA

Substances

  • RNA Precursors