The University of Southampton
University of Southampton Institutional Repository

Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay

Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay
Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay
Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disease. In recent studies on the neurofibromatosis type 1 (NF1) gene neurofibromin, splicing abnormalities were seen in 30-50% of cases when RNA taken from cell lines was analysed.1,2 Unlike mutations that alter critical amino acids or generate premature stop codons, splicing abnormalities can be very hard to predict from sequence analysis alone. Apart from the two base pairs 5' and 3' of each exon, few of the nucleotides in regions critical for splicing are absolutely conserved. As a consequence, it can be very difficult to conclude that a sequence variation found in a patient will alter splicing and so represents a pathogenic mutation.
alternative splicing, research support, research, introns, transfection, exons, plasmids, letter, rna, dna, metabolism, cultured, neurofibromin 1, genetics, humans, small nuclear, mutation, tumor cells
0022-2593
220-222
Baralle, M.
ee248bdf-c13c-44a7-ac1e-e5a3f1c552b0
Baralle, D.
faac16e5-7928-4801-9811-8b3a9ea4bb91
De Conti, L.
06308c6d-7e11-4740-b6d0-17f64e99c63c
Mattocks, C.
d9220649-2064-473f-b004-0895bf9fec97
Whittaker, J.
fbd09856-ad0d-44e4-9a33-3a904b70c0bc
Knezevich, A.
b2d7827b-64b1-4c75-83b7-5afc2f7a03d0
Ffrench-Constant, C.
d9c008e9-ae0f-4664-adcd-c32abf95381d
Baralle, F.E.
ad4b66eb-4fd0-416a-a77a-1479be42de1b
Baralle, M.
ee248bdf-c13c-44a7-ac1e-e5a3f1c552b0
Baralle, D.
faac16e5-7928-4801-9811-8b3a9ea4bb91
De Conti, L.
06308c6d-7e11-4740-b6d0-17f64e99c63c
Mattocks, C.
d9220649-2064-473f-b004-0895bf9fec97
Whittaker, J.
fbd09856-ad0d-44e4-9a33-3a904b70c0bc
Knezevich, A.
b2d7827b-64b1-4c75-83b7-5afc2f7a03d0
Ffrench-Constant, C.
d9c008e9-ae0f-4664-adcd-c32abf95381d
Baralle, F.E.
ad4b66eb-4fd0-416a-a77a-1479be42de1b

Baralle, M., Baralle, D., De Conti, L., Mattocks, C., Whittaker, J., Knezevich, A., Ffrench-Constant, C. and Baralle, F.E. (2003) Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay. Journal of Medical Genetics, 40 (3), 220-222. (doi:10.1136/jmg.40.3.220).

Record type: Article

Abstract

Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disease. In recent studies on the neurofibromatosis type 1 (NF1) gene neurofibromin, splicing abnormalities were seen in 30-50% of cases when RNA taken from cell lines was analysed.1,2 Unlike mutations that alter critical amino acids or generate premature stop codons, splicing abnormalities can be very hard to predict from sequence analysis alone. Apart from the two base pairs 5' and 3' of each exon, few of the nucleotides in regions critical for splicing are absolutely conserved. As a consequence, it can be very difficult to conclude that a sequence variation found in a patient will alter splicing and so represents a pathogenic mutation.

This record has no associated files available for download.

More information

Published date: March 2003
Keywords: alternative splicing, research support, research, introns, transfection, exons, plasmids, letter, rna, dna, metabolism, cultured, neurofibromin 1, genetics, humans, small nuclear, mutation, tumor cells

Identifiers

Local EPrints ID: 48495
URI: http://eprints.soton.ac.uk/id/eprint/48495
ISSN: 0022-2593
PURE UUID: 3647a558-90d9-49c2-aa2b-78d289cd936c
ORCID for D. Baralle: ORCID iD orcid.org/0000-0003-3217-4833

Catalogue record

Date deposited: 26 Sep 2007
Last modified: 16 Mar 2024 03:57

Export record

Altmetrics

Contributors

Author: M. Baralle
Author: D. Baralle ORCID iD
Author: L. De Conti
Author: C. Mattocks
Author: J. Whittaker
Author: A. Knezevich
Author: C. Ffrench-Constant
Author: F.E. Baralle

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×