Regulation of Alternative pre-mRNA Splicing during Cell Differentiation, Development and Disease

Regulation of Alternative pre-mRNA Splicing during Cell Differentiation, Development and Disease

Gene Regulation, Stem Cells and Cancer

Regulation of Alternative pre-mRNA Splicing during Cell Differentiation, Development and Disease

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Regulation of Alternative pre-mRNA Splicing during Cell Differentiation, Development and Disease

j

1990 PhD Centro de Biología Molecular, Universidad Autónoma de Madrid (Spain)
1991-1995 Postdoctoral work at the University of Massachusetts.
1996-2002 Group Leader at the European Molecular Biology Laboratory.
June 2002 ICREA Research Professor and Group Leader at the Centre de Regulació Genòmica, Barcelona (Spain)
2012 Coordinator of the Gene Regulation, Stem Cells and Cancer Programme, Centre de Regulació Genòmica, Barcelona (Spain)

Summary

The genome provides the instructions to build and maintain the function of a living organism. Strangely, in complex organisms these instructions are not written as continuous messages, but rather as smaller pieces (known as exons) interrupted by meaningless text (known as introns). This arrangement has the advantage that the pieces can be combined in different ways to generate alternative instructions, a mechanism that cells utilize to expand the information content of their genomes.
We study the complex molecular machinery that in the cell nucleus removes introns from the primary transcripts of genes, a process known as pre-mRNA splicing. We are particularly interested in how splicing is regulated to generate alternative mRNAs, a process used by the majority of human genes to generate proteins with different, even antagonistic functions. Alternative splicing is regulated during cell differentiation and development, and contributes to the normal physiology of multicellular organisms. Alterations in the splicing process are also a frequent cause of genetic diseases and contribute to common pathologies, including cancer.