Research Groups

Human Molecular Genetics

Group Leader

Research Interests and Description
Group Members

Franco Pagani

International Centre for Genetic Engineering and Biotechnology
Padriciano 99
34012 Trieste, Italy

E-mail: pagani@icgeb.org
Office tel: +39-040-3757342
Lab tel: +39-040-3757388
Office fax: +39-040-226555

Education

Faculty of Medicine, University of Milan, Italy, MD, 1985
Faculty of Medicine, University of Milan, Italy, Specialization in Geriatric Medicine, 1991

Career History

Since January 2005, Group Leader of the Human Molecular Genetics, International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy.
1994-2005, Assistant Research Scientist, ICGEB, Trieste.
1988-1994, Clinical Research Associate, Bioresearch, BASF-Group, Milan.
1986-1988, Research Scientist, Laboratory of Biochemistry and Molecular Biology, Rivetti Foundation, Milan.
1986, Visiting Scientist at the Sir W. Dunn School of Pathology, University of Oxford, England.

Teaching Activity

Tutoring activities in the ICGEB PhD Fellowship programme.

Scientific Activity

Main contribution to research is in the field of human molecular genetics of Cystic Fibrosis, Ataxia Telangiectasia and Lysosomal Acid Lipase Deficiency. Current research mainly focuses on diagnostic and therapeutic implications of non-canonical splicing defects in disease-associated genes, like CFTR, ATM and BRCA1. Genomic variants that unexpectedly cause aberrant splicing frequently represent a flag put over unknown regulatory splicing sequences. Thus, the study of aberrant splicing in human diseases provides an approach to unravel the basic mechanism of pre mRNA splicing and to design strategies aimed to the treatment of splicing defects.

Selected publications

Giraud, M., Taubert, R., Vandiedonck, C., Ke, X., Levi-Strauss, M., Pagani, F., Baralle, F.E., Eymard, B., Tranchant, C., Gajdos, P., Vincent, A., Willcox, N., Beeson, D., Kyewski, B., Garchon, H.J. 2007. An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus. Nature 448, 934-937

Raponi, M., Baralle, F.E., Pagani, F. 2007. Reduced splicing efficiency induced by synonymous substitutions may generate a substrate for natural selection of new splicing isoforms: the case of CFTR exon 12. Nucleic Acids Res, 35, 606-613

Ayala, Y.M., Pagani, F., Baralle, F.E. 2006. TDP43 depletion rescues aberrant CFTR exon 9 skipping 3. FEBS Letters 580, 1339-1344

Lewandowska, M.A., Stuani, C., Parvizpur, A., Baralle, F.E., Pagani, F. 2005. Functional studies on the ATM intronic splicing processing element. Nucleic Acids Res. 33, 4007-4015

Pagani, F., Raponi, M., Baralle, F.E. 2005. Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution. Proc. Natl. Acad. Sci. USA 102, 6368-6372

Pagani, F., Baralle, F.E. 2004. Genomic variants in exons and introns: identifying the splicing spoilers. Nat Rev Genet. 5, 389-396.

Zuccato, E., Buratti, E., Stuani, C., Baralle, F.E., Pagani, F. 2004. An Intronic Polypyrimidine-rich Element Downstream of the Donor Site Modulates Cystic Fibrosis Transmembrane Conductance Regulator Exon 9 Alternative Splicing. J Biol Chem. 279, 16980-8.

Pagani, F., Buratti, E., Stuani, C., Bendix, R., Dork, T., Baralle, F.E. 2002. An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing. J. Biol. Chem. 279, 16980-16988