Objective Regulation of gene expression is a complex phenomenon poorly understood. Our project aims to improve our knowledge about non-coding sequences, increasingly show to be relevant for modulating gene expression, using dystrophin gene and dystrophinopathies as model. Among the series of characterised patients, available in the collaborative units, several have unusual mutations and phenotype suggesting a role of non-coding regions. We will analyse these patients in order to identify and functionally study the regulatory sequences responsible. We will define the intronic breakpoints as well as other non-coding regions involved in dystrophin mutations. We will characterise these sequences by experimental studies to test their regulatory function with particular attention to those involved in pre-mRNA splicing. we will evaluate the feasibility of a targeted modulation of dystrophin gene expression using antisense oligonucleotides. Fields of science natural sciencesbiological sciencesgeneticsmutationnatural sciencesmathematicspure mathematicsmathematical analysisfunctional analysis Programme(s) FP5-LIFE QUALITY - Specific Programme for research, technological development and demonstration on "Quality of life and management of living resources", 1998-2002 Topic(s) 1.1.1.-8. - Research into genomes and diseases of genetic origin Call for proposal Data not available Funding Scheme CSC - Cost-sharing contracts Coordinator UNIVERSITA DEGLI STUDI DI FERRARA Address Via savonarola 9 Ferrara Italy See on map EU contribution € 0,00 Participants (4) Sort alphabetically Sort by EU Contribution Expand all Collapse all IMPERIAL COLLEGE OF SCIENCE, TECHNOLOGY AND MEDICINE United Kingdom EU contribution € 0,00 Address South kensington campus London See on map LEIDEN UNIVERSITY Netherlands EU contribution € 0,00 Address Wassenaarseweg 72 2300 RA Leiden See on map UNIVERSITA DEGLI STUDI DI PADOVA Italy EU contribution € 0,00 Address Via u.bassi 58/b 35131 Padova See on map UNIVERSITY OF LEICESTER United Kingdom EU contribution € 0,00 Address University road LE1 7RH Leicester See on map Links Website Opens in new window
