Regulation of gene expression is a complex phenomenon poorly understood. Our project aims to improve our knowledge about non-coding sequences, increasingly shown to be relevant for modulating gene expression, using dystrophin gene as a 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.
FUNCTIONAL ANALYISIS OF INTRONS AND GENE REGULATORY SEQUENCES AIMED AT TARGETED MODULATION OF GENE EXPRESSION (Progetto generale Eu FP5 STREP Finger, QLG2-CT-1999-00920)
FERLINI, Alessandra
2000
Abstract
Regulation of gene expression is a complex phenomenon poorly understood. Our project aims to improve our knowledge about non-coding sequences, increasingly shown to be relevant for modulating gene expression, using dystrophin gene as a 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.I documenti in SFERA sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
