Review : alternative splicing (AS) of genes as an approach for generating protein complexity

Roy, Bishakha, Haupt, Larisa M., & Griffiths, Lyn R. (2013) Review : alternative splicing (AS) of genes as an approach for generating protein complexity. Current Genomics, 14(3), pp. 182-194.

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Abstract

Prior to the completion of the human genome project, the human genome was thought to have a greater number of genes as it seemed structurally and functionally more complex than other simpler organisms. This along with the belief of “one gene, one protein”, were demonstrated to be incorrect. The inequality in the ratio of gene to protein formation gave rise to the theory of alternative splicing (AS). AS is a mechanism by which one gene gives rise to multiple protein products. Numerous databases and online bioinformatic tools are available for the detection and analysis of AS. Bioinformatics provides an important approach to study mRNA and protein diversity by various tools such as expressed sequence tag (EST) sequences obtained from completely processed mRNA. Microarrays and deep sequencing approaches also aid in the detection of splicing events. Initially it was postulated that AS occurred only in about 5%; of all genes but was later found to be more abundant. Using bioinformatic approaches, the level of AS in human genes was found to be fairly high with 35-59%; of genes having at least one AS form. Our ability to determine and predict AS is important as disorders in splicing patterns may lead to abnormal splice variants resulting in genetic diseases. In addition, the diversity of proteins produced by AS poses a challenge for successful drug discovery and therefore a greater understanding of AS would be beneficial.

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ID Code: 62463
Item Type: Journal Article
Refereed: Yes
DOI: 10.2174/1389202911314030004
ISSN: 1389-2029
Divisions: Current > Schools > School of Biomedical Sciences
Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2013 Bentham Science Publishers
Deposited On: 12 Sep 2013 06:21
Last Modified: 07 Apr 2014 01:45

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