期刊
FEBS LETTERS
卷 580, 期 18, 页码 4449-4456出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.febslet.2006.07.018
关键词
NF1; splicing; genomic context; exonic Splicing Enhancers
资金
- Telethon [GGP02453] Funding Source: Medline
We have studied the splicing regulation of NF1 exons 36 and 37. We show that they, not only require an intact exon Splicing Enhancer (ESE) within exon 37, but also need the genomic region stretching from exons 31 to 38. Any nucleotide change in two exon 37 third codon positions disrupts the ESE. The extent of exons 36 and 37 skipping due to a mutated ESE depends on the genomic context. This is a unique example of what may be a more general phenomena involved in the tuning of pre-mRNA processing and gene expression modulation in the chromosomal setting. (c) 2006 Federation of European Biochemical Societies. Published by Elsevier B.V.. All rights reserved.
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