Wspólnotowy Serwis Informacyjny Badan i Rozwoju - CORDIS

FP7

ASCE Streszczenie raportu

Project ID: 630758
Źródło dofinansowania: FP7-PEOPLE
Kraj: Czech Republic

Periodic Report Summary 1 - ASCE (Aberrant Splicing of CFTR Exon 9)

In this project, Peter Josef Lukavsky (PJL) uses a multidisciplinary approach to study the regulatory RNA-protein and protein-protein interactions surrounding the aberrantly spliced cystic fibrosis transmembrane conductance regulator (CFTR) exon 9. This unfavourable splicing event depends primarily on DNA variations in the polymorphic (TG)mTn locus upstream of exon 9. On the pre-mRNA level, this locus generates an extended UG-rich binding site for TDP-43 (43 kDa TAR DNA binding protein) which - in concert with recruitment of hnRNP A1/A2 (heterogeneous nuclear ribonucleoprotein A1/A2) - prevents recognition of the 3’ splice site (ss) of exon 9 by the splicing machinery. Thus exon 9 is excluded from the spliced mRNA and this results in a non-functional protein product associated with severe forms of cystic fibrosis (CF). PJL’s research tools range from binding measurements and structural techniques to functional assays and HTS screening for small molecule inhibitors.

Kontakt

Vladimir Sklenar, (Programme Coordinator)
Tel.: +420549497022
Adres e-mail

Tematy

Life Sciences
Numer rekordu: 183902 / Ostatnia aktualizacja: 2016-06-10
Źródło informacji: SESAM
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