Can donor splice site recognition occur without the involvement of U1 snRNP?
Can donor splice site recognition occur without the involvement of U1 snRNP?
Many disease-causing mutations affecting donor splice site recognition are reported in the literature. One of the more frequently observed nucleotide changes causing aberrant splicing are due to mutations in the donor splice site which lower the strength of base pairing with U1 snRNA (small nuclear RNA). However, recent data have highlighted the possibility of a recognition mechanism for weak donor splice sites that are at least partially U1-independent. This is important as most of the donor splice site prediction programs currently in use are based on the U1 snRNA 5'-splice site base pairing and would not pick this up. We review these mechanisms and how an up-to-date donor splice site mutation repertoire indicates the heterogeneity of the molecular mechanism. We suggest that, in clinical molecular genetics, it is important to evaluate sequence variants for aberrant splicing even in those cases where the variant is not thought to alter the U1 snRNA interaction.
literature, mutation, human, genetics, base pairing, rna, review, donor splice site recognition, pre-mRNA maturation, spliceosome, splice site, U1 small nuclear ribonucleoprotein (U1 snRNP)
548-550
Raponi, Michela
f465e77f-b9bf-4c32-80d6-43c0787542b9
Baralle, Diana
faac16e5-7928-4801-9811-8b3a9ea4bb91
2008
Raponi, Michela
f465e77f-b9bf-4c32-80d6-43c0787542b9
Baralle, Diana
faac16e5-7928-4801-9811-8b3a9ea4bb91
Raponi, Michela and Baralle, Diana
(2008)
Can donor splice site recognition occur without the involvement of U1 snRNP?
Biochemical Society Transactions, 36 (3), .
(doi:10.1042/BST0360548).
(PMID:18482005)
Abstract
Many disease-causing mutations affecting donor splice site recognition are reported in the literature. One of the more frequently observed nucleotide changes causing aberrant splicing are due to mutations in the donor splice site which lower the strength of base pairing with U1 snRNA (small nuclear RNA). However, recent data have highlighted the possibility of a recognition mechanism for weak donor splice sites that are at least partially U1-independent. This is important as most of the donor splice site prediction programs currently in use are based on the U1 snRNA 5'-splice site base pairing and would not pick this up. We review these mechanisms and how an up-to-date donor splice site mutation repertoire indicates the heterogeneity of the molecular mechanism. We suggest that, in clinical molecular genetics, it is important to evaluate sequence variants for aberrant splicing even in those cases where the variant is not thought to alter the U1 snRNA interaction.
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Published date: 2008
Keywords:
literature, mutation, human, genetics, base pairing, rna, review, donor splice site recognition, pre-mRNA maturation, spliceosome, splice site, U1 small nuclear ribonucleoprotein (U1 snRNP)
Identifiers
Local EPrints ID: 60145
URI: http://eprints.soton.ac.uk/id/eprint/60145
ISSN: 0300-5127
PURE UUID: 88647e7d-e682-40d5-8cf7-85b4a9ba93eb
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Date deposited: 02 Sep 2008
Last modified: 16 Mar 2024 03:57
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Author:
Michela Raponi
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