Abstract：
:Using a protein truncation assay, we have identified a new mutation in the neurofibromatosis type 1 (NF1) gene that causes a severe defect in NF1 pre-mRNA splicing. The mutation, which consists of a G to A transition at position +1 of the 5' splice site of exon 12a, is associated with the loss of both exons 11 and 12a in the NF1 mRNA. Through the use of in vivo and in vitro splicing assays, we show that the mutation inactivates the 5' splice site of exon 12a, and prevents the definition of exon 12a, a process that is normally required to stimulate the weak 3' splice site of exon 12a. Because the 5' splice site mutation weakens the interaction of splicing factors with the 3' splice site of exon 12a, we propose that exon 11/exon 12a splicing is also compromised, leading to the exclusion of both exons 11 and 12a. Our results provide in vivo support for the importance of the exon definition model during NF1 splicing, and suggest that the NF1 region containing exons 11 and 12a plays an important role in the activity of neurofibromin.
journal_name
J Mol Bioljournal_title
Journal of molecular biologyauthors
Fang LJ,Simard MJ,Vidaud D,Assouline B,Lemieux B,Vidaud M,Chabot B,Thirion JPdoi
10.1006/jmbi.2001.4561keywords:
subject
Has Abstractpub_date
2001-04-13 00:00:00pages
1261-70issue
5eissn
0022-2836issn
1089-8638pii
S0022-2836(01)94561-9journal_volume
307pub_type
杂志文章abstract：:Chloroplast RNA splicing 2 (CRS2) is a nuclear-encoded protein required for the splicing of nine group II introns in maize chloroplasts. CRS2 functions in the context of splicing complexes that include one of two CRS2-associated factors (CAF1 and CAF2). The CRS2-CAF1 and CRS2-CAF2 complexes are required for the splici...
journal_title：Journal of molecular biology
pub_type： 杂志文章
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pub_type： 杂志文章,评审
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pub_type： 杂志文章
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journal_title：Journal of molecular biology
pub_type： 杂志文章
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pub_type： 杂志文章
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journal_title：Journal of molecular biology
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journal_title：Journal of molecular biology
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journal_title：Journal of molecular biology
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journal_title：Journal of molecular biology
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journal_title：Journal of molecular biology
pub_type： 杂志文章
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abstract：:In eukaryotes the MSH2-MSH3 and MSH2-MSH6 heterodimers initiate mismatch repair (MMR) by recognizing and binding to DNA mismatches. The MLH1-PMS1 heterodimer then interacts with the MSH proteins at or near the mismatch site and is thought to act as a mediator to recruit downstream repair proteins. Here we analyzed fiv...
journal_title：Journal of molecular biology
pub_type： 杂志文章
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