http://www.cnr.it/ontology/cnr/individuo/prodotto/ID37291
Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene (Articolo in rivista)
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- Label
- Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene (Articolo in rivista) (literal)
- Anno
- 2009-01-01T00:00:00+01:00 (literal)
- Alternative label
Valeria Faa1, Federica Incani2, Alessandra Meloni1, Denise Corda2, Maddalena Masala2, A.Maria Baffico3, Manuela Seia4, Antonio Cao1, M.Cristina Rosatelli2 (2009)
Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene
in The Journal of biological chemistry (Print)
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- Valeria Faa1, Federica Incani2, Alessandra Meloni1, Denise Corda2, Maddalena Masala2, A.Maria Baffico3, Manuela Seia4, Antonio Cao1, M.Cristina Rosatelli2 (literal)
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- 1Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Cagliari, Italy
2 Dipartimento di Scienze Biomediche e Biotecnologie, Università degli Studi di Cagliari, Cagliari, Italy
3 Ente Ospedaliero Galliera, Genova, Italy
4 Fondazione Policlinico Mangiagalli e Regina Elena, Milano, Italy (literal)
- Titolo
- Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene (literal)
- Abstract
- Cystic fibrosis (CF) is a common recessive disorder caused by more than 1600 mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. About 13% of CFTR mutations is classified as splicing mutations, but for almost 40% of these, their role in affecting the pre-mRNA splicing of the gene is not yet defined.
In this paper we describe a new splicing mutation detected in three unrelated Italian CF patients.
By DNA analyses as well as mRNA studies we identified the c.1002-1110_1113delTAAG mutation localized in intron 6b of the CFTR gene. At mRNA level, this mutation creates an aberrant inclusion of a sequence of 101 nt between exons 6b and 7. This sequence corresponds to a portion of intron 6b and resembles a cryptic exon because it is characterized by an upstream ag and a downstream gt sequence which is most probably recognized as 5 and 3 splice site by the spliceosome. Through functional analysis of this splicing defect, we show that this mutation abolishes the interaction of the splicing regulatory protein hnRNPA2/B1 with an intronic splicing regulatory element and creates a new recognition motif for the SRp75 splicing factor, causing the activation of the cryptic exon.
Our results show that the c.1002-1110_1113delTAAG mutation creates a new intronic splicing regulatory element in intron 6b of CFTR gene exclusively recognized by the splicing factor SRp75. (literal)
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