Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
Trends Mol Med. 2012 Aug;18(8):472-82. doi: 10.1016/j.molmed.2012.06.006. Epub 2012 Jul 18.

Pre-mRNA splicing in disease and therapeutics.

Author information

  • 1Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX 77030, USA.

Abstract

In metazoans, alternative splicing of genes is essential for regulating gene expression and contributing to functional complexity. Computational predictions, comparative genomics, and transcriptome profiling of normal and diseased tissues indicate that an unexpectedly high fraction of diseases are caused by mutations that alter splicing. Mutations in cis elements cause missplicing of genes that alter gene function and contribute to disease pathology. Mutations of core spliceosomal factors are associated with hematolymphoid neoplasias, retinitis pigmentosa, and microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1). Mutations in the trans regulatory factors that control alternative splicing are associated with autism spectrum disorder, amyotrophic lateral sclerosis (ALS), and various cancers. In addition to discussing the disorders caused by these mutations, this review summarizes therapeutic approaches that have emerged to correct splicing of individual genes or target the splicing machinery.

Copyright © 2012 Elsevier Ltd. All rights reserved.

PMID:
22819011
[PubMed - indexed for MEDLINE]
PMCID:
PMC3411911
Free PMC Article

Images from this publication.See all images (4)Free text

Figure 1
Figure 2
Figure 3
Figure 4
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science Icon for PubMed Central
    Loading ...
    Write to the Help Desk