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NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region

NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region
NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region
We have studied the splicing regulation of NF1 exons 36 and 37. We show that they not only require an intact exonic 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.
acid, expression, regulatory sequences, codon, rna splice sites, ribonucleic acid, genomics, humans, research, genetic engineering, neurofibromatosis 1, rna, point mutation, exons, alternative splicing, hela cells, gene expression, metabolism, genetics, messenger, research support
0014-5793
4449-4456
Baralle, Marco
a3ea1d8f-4a47-4a07-96e2-566712db0524
Skoko, Natasa
fb43a9ab-612e-48a6-855d-a39b0cdc41c8
Knezevich, Anna
44968cbf-22d2-4c27-a4db-4193a185a09b
De Conti, Laura
752ea1a6-4909-4f89-8cc9-75add69855f4
Motti, Dario
c6cbb4cb-7ba4-4b33-b0b3-5d517b938325
Bhuvanagiri, Madhuri
78d9eb8d-945e-42f9-8bab-714dfa543b4f
Baralle, Diana
faac16e5-7928-4801-9811-8b3a9ea4bb91
Buratti, Emanuele
57e8e002-a8c2-409a-ac29-2fc4a1d1c8b9
Baralle, Francisco E.
c693805a-a9e6-412f-8e42-8feecb1d0adf
Baralle, Marco
a3ea1d8f-4a47-4a07-96e2-566712db0524
Skoko, Natasa
fb43a9ab-612e-48a6-855d-a39b0cdc41c8
Knezevich, Anna
44968cbf-22d2-4c27-a4db-4193a185a09b
De Conti, Laura
752ea1a6-4909-4f89-8cc9-75add69855f4
Motti, Dario
c6cbb4cb-7ba4-4b33-b0b3-5d517b938325
Bhuvanagiri, Madhuri
78d9eb8d-945e-42f9-8bab-714dfa543b4f
Baralle, Diana
faac16e5-7928-4801-9811-8b3a9ea4bb91
Buratti, Emanuele
57e8e002-a8c2-409a-ac29-2fc4a1d1c8b9
Baralle, Francisco E.
c693805a-a9e6-412f-8e42-8feecb1d0adf

Baralle, Marco, Skoko, Natasa, Knezevich, Anna, De Conti, Laura, Motti, Dario, Bhuvanagiri, Madhuri, Baralle, Diana, Buratti, Emanuele and Baralle, Francisco E. (2006) NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region. FEBS Letters, 580 (18), 4449-4456. (doi:10.1016/j.febslet.2006.07.018).

Record type: Article

Abstract

We have studied the splicing regulation of NF1 exons 36 and 37. We show that they not only require an intact exonic 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.

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More information

Published date: 7 August 2006
Keywords: acid, expression, regulatory sequences, codon, rna splice sites, ribonucleic acid, genomics, humans, research, genetic engineering, neurofibromatosis 1, rna, point mutation, exons, alternative splicing, hela cells, gene expression, metabolism, genetics, messenger, research support

Identifiers

Local EPrints ID: 59471
URI: http://eprints.soton.ac.uk/id/eprint/59471
ISSN: 0014-5793
PURE UUID: 34e922df-6304-4f73-8dc5-bb5d49c9eac0
ORCID for Diana Baralle: ORCID iD orcid.org/0000-0003-3217-4833

Catalogue record

Date deposited: 04 Sep 2008
Last modified: 17 Dec 2019 01:43

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Contributors

Author: Marco Baralle
Author: Natasa Skoko
Author: Anna Knezevich
Author: Laura De Conti
Author: Dario Motti
Author: Madhuri Bhuvanagiri
Author: Diana Baralle ORCID iD
Author: Emanuele Buratti
Author: Francisco E. Baralle

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