Sophie Bonnal

Sophie Bonnal

Valcárcel Lab

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Valcárcel Lab
Regulation of Alternative pre-mRNA Splicing during Cell Differentiation, Development and Disease
Staff Scientist
Sophie Bonnal

Valcárcel Lab

Regulation of Alternative pre-mRNA Splicing during Cell Differentiation, Development and Disease
Staff Scientist
Sophie Bonnal

Short CV

2006-Present Staff Scientist in the lab of Pr Valcárcel, CRG
2004-2006 Postdoc in the lab of Pr Valcárcel, CRG
2003 PhD in Molecular and Cellular Biology (University Paul Sabatier, Toulouse, France) in the laboratory of Dr Vagner
1999 Master in Biochemistry (University Claude Bernard, Lyon, France)
1999 Engineer Diploma in Biochemistry (INSA_National Institute of Applied Sciences, Lyon, France)

LinkedIn Profile

https://www.linkedin.com/in/sophie-bonnal-89309058/

Summary

Precursor mRNA (pre-mRNA) splicing is the processing step in the gene expression pathway that involves the removal of intronic -and ligation of exonic- sequences to form mature RNAs (mRNAs). This process is catalysed by the spliceosome, composed of five small nuclear ribonucleoprotein complexes (snRNPs) and more than 200 proteins. snRNPs assemble on cis-acting elements (5’ and 3’ splice sites) to establish dynamic networks of RNA-protein, RNA-RNA and protein-protein interactions required for both of the transesterification steps of the splicing reaction.

Alternative splicing, a widespread mechanism contributing to proteome diversity (affecting more than 95% of the multiexonic genes), involves the differential processing of exonic and intronic fragments in the final transcript. While alternative splicing is important for normal development, its alterations have been linked to mis-regulation of cellular processes and to different human disorders.
 
I am focusing on deciphering the molecular mechanisms underlying splice site usage decisions and alternative splicing. More specifically, I am interested in:

  • identifying the mechanisms of action of different RNA Binding Proteins (RBPs) involved in a) regulation of Fas receptor exon 6 alternative splicing (including SPF45, PTB, TIA, RBM5/6/10), b) regulation of microexons splicing (SRRM4) and c) recognition of 3’ splice sites (U2AF and U2 snRNP components).
  • identifying key splicing changes and understanding the underlying mechanisms associated with mutations in the core splicing factor SF3B1 observed in various hematopoietic and solid tumors, which can help in the design of novel therapeutic approaches.
  • understanding how point mutations in pre-mRNAs can lead to changes in alternative splicing patterns relevant for disease (for example in the gene Pax6, linked to aniridia).