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Splicing in action: assessing disease causing sequence changes1

Splicing in action: assessing disease causing sequence changes1
Splicing in action: assessing disease causing sequence changes1
Variations in new splicing regulatory elements are difficult to identify exclusively by sequence inspection and may result in deleterious effects on precursor (pre) mRNA splicing. These mutations can result in either complete skipping of the exon, retention of the intron, or the introduction of a new splice site within an exon or intron. Sometimes mutations that do not disrupt or create a splice site activate pre-existing pseudo splice sites, consistent with the proposal that introns contain splicing inhibitory sequences. These variants can also affect the fine balance of isoforms produced by alternatively spliced exons and in consequence cause disease. Available genomic pathology data reveal that we are still partly ignorant of the basic mechanisms that underlie the pre-mRNA splicing process. The fact that human pathology can provide pointers to new modulatory elements of splicing should be exploited
pathology, metabolism, protein isoforms, alternative splicing, binding sites, affect, protein, molecular sequence data, base sequence, human, review, messenger, exons, disease, rna, introns, humans, genetic, genetics, models, genetic predisposition to disease, mutation, rna splicing, chemistry, rna precursors
0022-2593
737-748
Baralle, D.
faac16e5-7928-4801-9811-8b3a9ea4bb91
Baralle, M.
ee248bdf-c13c-44a7-ac1e-e5a3f1c552b0
Baralle, D.
faac16e5-7928-4801-9811-8b3a9ea4bb91
Baralle, M.
ee248bdf-c13c-44a7-ac1e-e5a3f1c552b0

Baralle, D. and Baralle, M. (2005) Splicing in action: assessing disease causing sequence changes1. Journal of Medical Genetics, 42 (10), 737-748. (doi:10.1136/jmg.2004.029538).

Record type: Article

Abstract

Variations in new splicing regulatory elements are difficult to identify exclusively by sequence inspection and may result in deleterious effects on precursor (pre) mRNA splicing. These mutations can result in either complete skipping of the exon, retention of the intron, or the introduction of a new splice site within an exon or intron. Sometimes mutations that do not disrupt or create a splice site activate pre-existing pseudo splice sites, consistent with the proposal that introns contain splicing inhibitory sequences. These variants can also affect the fine balance of isoforms produced by alternatively spliced exons and in consequence cause disease. Available genomic pathology data reveal that we are still partly ignorant of the basic mechanisms that underlie the pre-mRNA splicing process. The fact that human pathology can provide pointers to new modulatory elements of splicing should be exploited

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More information

Published date: 2005
Keywords: pathology, metabolism, protein isoforms, alternative splicing, binding sites, affect, protein, molecular sequence data, base sequence, human, review, messenger, exons, disease, rna, introns, humans, genetic, genetics, models, genetic predisposition to disease, mutation, rna splicing, chemistry, rna precursors

Identifiers

Local EPrints ID: 59468
URI: http://eprints.soton.ac.uk/id/eprint/59468
ISSN: 0022-2593
PURE UUID: ff30a196-197b-4071-910d-890a91655198
ORCID for D. Baralle: ORCID iD orcid.org/0000-0003-3217-4833

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Date deposited: 03 Sep 2008
Last modified: 17 Dec 2019 01:43

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Contributors

Author: D. Baralle ORCID iD
Author: M. Baralle

University divisions

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