Splicing defects in the CFTR gene: Minigene analysis of two mutations, 1811+1G>C and 1898+3A>G

Journal of Cystic Fibrosis

Volumn 10, Issue 3, 2011, Pages 212-216

  Dujardin, Gwendal ^a   Commandeur, Diane ^b   Le Jossic Corcos, Catherine ^a   Ferec, Claude ^a   Corcos, Laurent ^a  

^a FACULTÉ DE MÉDECINE ET DES SCIENCES DE LA SANTÉ   (France)

^b HÔPITAL D'INSTRUCTION DES ARMÉES ROBERT PICQUÉ   (France)

Author keywords

Alternative splicing; Cystic fibrosis; Minigene assays; Mutation analysis

Indexed keywords

ARTICLE; CFTR GENE; CYSTIC FIBROSIS; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; REGULATOR GENE; RNA SPLICING; SPLICING DEFECT;

ADENINE; ALTERNATIVE SPLICING; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CYTOSINE; GUANINE; HETEROZYGOTE; HUMANS; INTRONS; MUTAGENESIS, SITE-DIRECTED; MUTATION; PHENOTYPE; RNA PRECURSORS; RNA SPLICING;

EID: 79955956183     PISSN: 15691993     EISSN: 18735010     Source Type: Journal    
DOI: 10.1016/j.jcf.2010.12.008     Document Type: Article

References (11)

1. Mardon H.J., Sebastio G., Baralle F.E. A role for exon sequences in alternative splicing of the human fibronectin gene. Nucleic Acids Res 1987 Oct 12, 15(19):7725-7733.
2. Petreska L., Koceva S., Efremov G.D. A donor splice site mutation (1811 + 1G->C) in intron 11 of the CFTR gene identified in a patient of Macedonian origin. Hum Mutat 1996, 7(4):375.
3. Vibe-Pedersen K., Kornblihtt A.R., Baralle F.E. Expression of a human alpha-globin/fibronectin gene hybrid generates two mRNAs by alternative splicing. EMBO J 1984 Nov, 3(11):2511-2516.
4. Pagani F., Buratti E., Stuani C., Romano M., Zuccato E., Niksic M., et al. Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element. J Biol Chem 2000 Jul 14, 275(28):21041-21047.
5. Pagani F., Buratti E., Stuani C., Bendix R., Dork T., Baralle F.E. A new type of mutation causes a splicing defect in ATM. Nat Genet 2002 Apr, 30(4):426-429.
6. Dujardin G., Buratti E., Charlet-Berguerand N., Martins de Araujo M., Mbopda A., Le Jossic-Corcos C., et al. CELF proteins regulate CFTR pre-mRNA splicing: essential role of the divergent domain of ETR-3. Nucleic Acids Res 2010 Nov 1, 38(20):7273-7285.
7. Niksic M., Romano M., Buratti E., Pagani F., Baralle F.E. Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9. Hum Mol Genet 1999 Dec, 8(13):2339-2349.
8. D'Ambrogio A., Buratti E., Stuani C., Guarnaccia C., Romano M., Ayala Y.M., et al. Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo. Nucleic Acids Res 2009 Jul, 37(12):4116-4126.
9. Amaral M.D., Clarke L.A., Ramalho A.S., Beck S., Broackes-Carter F., Rowntree R., et al. Quantitative methods for the analysis of CFTR transcripts/splicing variants. J Cyst Fibros 2004 Aug, 3(Suppl 2):17-23.
10. Norton P.A. Alternative pre-mRNA splicing: factors involved in splice site selection. J Cell Sci 1994 Jan, 107(Pt 1):1-7.
11. Nogues G., Kadener S., Cramer P., de la Mata M., Fededa J.P., Blaustein M., et al. Control of alternative pre-mRNA splicing by RNA Pol II elongation: faster is not always better. IUBMB Life 2003 Apr-May, 55(4-5):235-241.