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.
Conference Article| November 19 2009
Splicing, cis genetic variation and disease
Cathy J. Jensen;
Cathy J. Jensen 1
*Department of Neurogenetics, Howard Florey Institute, Melbourne, VIC 3010, Australia
†Department of Physiology, Faculty of Health Sciences, Nursing and Medicine, Monash University, Melbourne, VIC 3800, Australia
1To whom correspondence should be addressed (email email@example.com).
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Brian J. Oldfield;
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Cathy J. Jensen, Brian J. Oldfield, Justin P. Rubio; Splicing, cis genetic variation and disease. Biochem Soc Trans 1 December 2009; 37 (6): 1311–1315. doi: https://doi.org/10.1042/BST0371311
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