Alternative cleavage and polyadenylation in health and disease

Gruber, Andreas J. and Zavolan, Mihaela. (2019) Alternative cleavage and polyadenylation in health and disease. Nature reviews. Genetics, 20 (10). pp. 599-614.

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Official URL: https://edoc.unibas.ch/71350/

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Most human genes have multiple sites at which RNA 3' end cleavage and polyadenylation can occur, enabling the expression of distinct transcript isoforms under different conditions. Novel methods to sequence RNA 3' ends have generated comprehensive catalogues of polyadenylation (poly(A)) sites; their analysis using innovative computational methods has revealed how poly(A) site choice is regulated by core RNA 3' end processing factors, such as cleavage factor I and cleavage and polyadenylation specificity factor, as well as by other RNA-binding proteins, particularly splicing factors. Here, we review the experimental and computational methods that have enabled the global mapping of mRNA and of long non-coding RNA 3' ends, quantification of the resulting isoforms and the discovery of regulators of alternative cleavage and polyadenylation (APA). We highlight the different types of APA-derived isoforms and their functional differences, and illustrate how APA contributes to human diseases, including cancer and haematological, immunological and neurological diseases.
Faculties and Departments:05 Faculty of Science > Departement Biozentrum > Computational & Systems Biology > Bioinformatics (Zavolan)
UniBasel Contributors:Zavolan, Mihaela
Item Type:Article, refereed
Article Subtype:Research Article
Publisher:Nature Pub. Group
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:17 Aug 2020 13:58
Deposited On:17 Aug 2020 13:58

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