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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.

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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

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Date deposited: 26 Sep 2007
Last modified: 09 Jan 2022 03:27

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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

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