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A premature termination codon within an alternative exon affecting only the metabolism of transcripts that retain this exon

1999; Wiley; Volume: 14; Issue: 2 Linguagem: Inglês

10.1002/(sici)1098-1004(1999)14

1098-1004

Philippe Maillet, Nicole Dalla Venezia, Fr�d�ric Lorenzo, Madeleine Morini�re, Muriel Bozon, B. No�l, J. Delaunay, Faouzi Baklouti,

Nanopore and Nanochannel Transport Studies

Human MutationVolume 14, Issue 2 p. 145-155 Research Article A premature termination codon within an alternative exon affecting only the metabolism of transcripts that retain this exon Philippe Maillet, Philippe Maillet CNRS URA 1171, CNRS UMR 5534, Centre de Génétique Moléculaire et Cellulaire, Université Lyon 1, Villeurbanne, FranceSearch for more papers by this authorNicole Dalla Venezia, Nicole Dalla Venezia CNRS URA 1171, CNRS UMR 5534, Centre de Génétique Moléculaire et Cellulaire, Université Lyon 1, Villeurbanne, FranceSearch for more papers by this authorFrédéric Lorenzo, Frédéric Lorenzo CNRS URA 1171, CNRS UMR 5534, Centre de Génétique Moléculaire et Cellulaire, Université Lyon 1, Villeurbanne, FranceSearch for more papers by this authorMadeleine Morinière, Madeleine Morinière CNRS URA 1171, CNRS UMR 5534, Centre de Génétique Moléculaire et Cellulaire, Université Lyon 1, Villeurbanne, FranceSearch for more papers by this authorMuriel Bozon, Muriel Bozon CNRS URA 1171, CNRS UMR 5534, Centre de Génétique Moléculaire et Cellulaire, Université Lyon 1, Villeurbanne, FranceSearch for more papers by this authorBernard Noël, Bernard Noël Centre de Transfusion Sanguine, Centre Hospitalier de Chambéry, Chambéry, FranceSearch for more papers by this authorJean Delaunay, Jean Delaunay CNRS URA 1171, CNRS UMR 5534, Centre de Génétique Moléculaire et Cellulaire, Université Lyon 1, Villeurbanne, FranceSearch for more papers by this authorFaouzi Baklouti, Corresponding Author Faouzi Baklouti [email protected] CNRS URA 1171, CNRS UMR 5534, Centre de Génétique Moléculaire et Cellulaire, Université Lyon 1, Villeurbanne, FranceCNRS UMR 5534, Bât. 741, Centre de Génétique Moléculaire et Cellulaire, Université Lyon 1, 43, Boulevard du 11 Novembre 1918, 69622 Villeurbanne Cedex, France; Fax: 33-4-72-44-05-55Search for more papers by this author Philippe Maillet, Philippe Maillet CNRS URA 1171, CNRS UMR 5534, Centre de Génétique Moléculaire et Cellulaire, Université Lyon 1, Villeurbanne, FranceSearch for more papers by this authorNicole Dalla Venezia, Nicole Dalla Venezia CNRS URA 1171, CNRS UMR 5534, Centre de Génétique Moléculaire et Cellulaire, Université Lyon 1, Villeurbanne, FranceSearch for more papers by this authorFrédéric Lorenzo, Frédéric Lorenzo CNRS URA 1171, CNRS UMR 5534, Centre de Génétique Moléculaire et Cellulaire, Université Lyon 1, Villeurbanne, FranceSearch for more papers by this authorMadeleine Morinière, Madeleine Morinière CNRS URA 1171, CNRS UMR 5534, Centre de Génétique Moléculaire et Cellulaire, Université Lyon 1, Villeurbanne, FranceSearch for more papers by this authorMuriel Bozon, Muriel Bozon CNRS URA 1171, CNRS UMR 5534, Centre de Génétique Moléculaire et Cellulaire, Université Lyon 1, Villeurbanne, FranceSearch for more papers by this authorBernard Noël, Bernard Noël Centre de Transfusion Sanguine, Centre Hospitalier de Chambéry, Chambéry, FranceSearch for more papers by this authorJean Delaunay, Jean Delaunay CNRS URA 1171, CNRS UMR 5534, Centre de Génétique Moléculaire et Cellulaire, Université Lyon 1, Villeurbanne, FranceSearch for more papers by this authorFaouzi Baklouti, Corresponding Author Faouzi Baklouti [email protected] CNRS URA 1171, CNRS UMR 5534, Centre de Génétique Moléculaire et Cellulaire, Université Lyon 1, Villeurbanne, FranceCNRS UMR 5534, Bât. 741, Centre de Génétique Moléculaire et Cellulaire, Université Lyon 1, 43, Boulevard du 11 Novembre 1918, 69622 Villeurbanne Cedex, France; Fax: 33-4-72-44-05-55Search for more papers by this author First published: 28 July 1999 https://doi.org/10.1002/(SICI)1098-1004(1999)14:2 3.0.CO;2-LCitations: 8AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Abstract Protein 4.1 pre-mRNA splicing is regulated in tissue- and development-specific manners. Exon 16, which encodes the N-terminal region of the spectrin/actin-binding domain, is one of the alternatively spliced sequence motifs. It is present in late differentiated erythroid cells but absent from early erythroblasts and from lymphoid cells. We describe a single nucleotide deletion of the erythroid protein 4.1 gene associated with hereditary elliptocytosis. The deletion located in exon 16 leads to a frameshift and a premature termination codon within the same exon. In an effort to examine the premature stop codon effect in relationship with exon 16 alternative splicing, we analyzed erythroid and lymphoid protein 4.1 mRNAs using the mutation and a linked downstream polymorphism as markers. 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