| Approaches to Study CFTR Pre-mRNA Splicing Defects. | |
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MedLine Citation:
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PMID: 21594784 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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In cystic fibrosis, genomic variants can result in defective processing of the CFTR precursor mRNA. Due to the complexity of the splicing process, the evaluation of their pathological effect is an important aspect both in the diagnostic field and in the study of basic regulatory mechanism. Efficient and correct splicing of CFTR relies on a complex process that includes recognition within the nascent transcripts of a series of different splicing regulatory elements that frequently overlap with the coding sequences. Identification of these elements is essential to determine the pathological impact of splicing-affecting genomic variants. In this chapter, to evaluate the effect of CFTR DNA variations on the pre-mRNA splicing process, different tools based on hybrid minigenes will be described. |
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Authors:
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Elisa Goina; Eugenio Fernandez-Alanis; Franco Pagani |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Methods in molecular biology (Clifton, N.J.) Volume: 741 ISSN: 1940-6029 ISO Abbreviation: Methods Mol. Biol. Publication Date: 2011 |
Date Detail:
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Created Date: 2011-05-19 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9214969 Medline TA: Methods Mol Biol Country: United States |
Other Details:
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Languages: eng Pagination: 155-69 Citation Subset: IM |
Affiliation:
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Human Molecular Genetics, International Centre for Genetic Engineering and Biotechnology, 34149, Trieste, Italy, egoina@sissa.it. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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