Identification of a mutation that perturbs NF1 gene splicing using genomic DNA samples and a minigene assay [6]

Journal of Medical Genetics

Volumn 40, Issue 3, 2003, Pages 220-222

  Baralle, M ^a   Baralle, D ^b,c   De Conti, L ^a   Mattocks, C ^b   Whittaker, J ^b   Knezevich, A ^a   Ffrench Constant, C ^b,c   Baralle, F E ^a  

^a INTERNATIONAL CENTRE FOR GENETIC ENGINEERING AND BIOTECHNOLOGY   (Italy)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; NEUROFIBROMIN;

EXON; GENE; GENE MUTATION; HUMAN; LETTER; NEUROFIBROMATOSIS; NF1 GENE; PRIORITY JOURNAL; RNA SPLICING;

ALTERNATIVE SPLICING; DNA; EXONS; HUMANS; INTRONS; MUTATION; NEUROFIBROMIN 1; PLASMIDS; RNA, SMALL NUCLEAR; TRANSFECTION; TUMOR CELLS, CULTURED;

EID: 0037337527     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (5)

1. Ars E, Serra E, Garcia J, Kruyer H, Gaona A, Lazaro C, Estivill X. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum Mol Genet 2000;9:237-47.
2. Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, De Paepe A. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat 2000;15:541-55.
3. Pagani F, Buratti E, Stuani C, Romano M, Zuccato E, Niksic M, Giglio L, Faraguna D, Baralle FE. Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element. J Biol Chem 2000;275:21041-7.
4. Pagani F, Buratti E, Stuani C, Bendix R, Dork T, Baralle FE. A new type of mutation causes a splicing defect in ATM. Nat Genet 2002;30:426-9.
5. Muro AF, Capati M, Pariyarath R, Pagani F, Buratti E, Baralle FE. Regulation of fibronectin Eda exon alternative splicing, a possible role of RNA secondary structure for enhancer display. Mol Cell Biol 1999;19:2657-71.