NDLI: Use of an exon-trapping vector for the evaluation of splice-site mutations

Content Provider	Springer Nature Link
Author	Schneider, Boris Koppius, Andrea Sedlmeier, Reinhard
Copyright Year	2007
Abstract	Prediction of the effects of splice-site variations by sequence analysis is difficult. In this study we provide the means for a rapid evaluation of the potential for splice-site mutations to interfere with RNA processing. The system may be useful in reverse genetics or mapping studies when isolation and characterization of mRNA is arduous or not possible. In the assay we cloned wild-type and mutant sequences of murine splice-site mutations into an exon-trapping vector and characterized splicing of both recombinant transcripts in a transient cell culture system. Results from this artificial assay were compared with in vivo data from the respective mouse models. We found that the exon-trapping system allows one to confidently predict whether a splice-site variation is going to have a splicing effect in vivo, but the system does not always reflect in vivo splicing in detail. In summary, the exon-trapping system is a reliable and easy-to-use tool for a first evaluation of splice effects.
Starting Page	670
Ending Page	676
Page Count	7
File Format	PDF
ISSN	09388990
Journal	Mammalian Genome
Volume Number	18
Issue Number	9
e-ISSN	14321777
Language	English
Publisher	Springer-Verlag
Publisher Date	2007-08-09
Publisher Place	New York
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Zoology Anatomy Cell Biology
Content Type	Text
Resource Type	Article
Subject	Genetics

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Use of an exon-trapping vector for the evaluation of splice-site mutations