Format

Send to

Choose Destination
Biochem Soc Trans. 2009 Dec;37(Pt 6):1311-5. doi: 10.1042/BST0371311.

Splicing, cis genetic variation and disease.

Author information

1
Department of Neurogenetics, Howard Florey Institute, Melbourne, VIC 3010, Australia. cjensen@hfi.unimelb.edu.au

Abstract

Splicing is a post-transcriptional modification of RNA during which introns are removed and exons are joined. Most of the mammalian genes undergo constitutive and alternative splicing events. In addition to the strong signals of the splice sites, splicing is influenced at a distance by a range of trans factors that interact with cis regulatory elements and influence the spliceosome. The intention of the present mini-review is to give some insights into the complexity of this interaction and to introduce the consequences of some kinds of detrimental genetic variation on alternative splicing and disease.

PMID:
19909267
DOI:
10.1042/BST0371311
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for HighWire
Loading ...
Support Center