Cell type specific proteome specialization though microexons in health and disease

About:

One of the major challenges for the development of complex multicellular organisms is to generate dozens of cell types from a single genomic sequence. Through differential processing of introns and exons, alternative splicing can produce cell type-specific protein isoforms that allow optimization of their specific cellular roles or even the emergence of novel functions. One of the most striking examples of this is provided by microexons in vertebrate neurons. These tiny exons, which can encode as few as one or two aminoacids, are switched on during neuronal differentiation and show the highest evolutionary conservation of all AS types. Recently, we have found that a subset of these microexons are also expressed in endocrine pancreatic cells, where they play essential roles regulating insulin secretion and glucose homeostasis. In this talk, I will provide an overview about our work trying to unravel the relevance of microexons in health and disease.

CV highlights and research lines:

Manuel Irimia started his laboratory at the Centre for Genomic Regulation (CRG) in June 2014. He has been an ICREA Research Professor since December 2018, and in October 2023 his lab moved to the Universitat Pompeu Fabra, with dual affiliation with the CRG. Since 2024, he has been the coordinator of the CRG-UPF-IBE Joint Program on Evolutionary Medical Genomics. His lab is interested in understanding the roles that transcriptomic diversification, especially through alternative splicing and gene duplication, plays on vertebrate development, evolution and disease. He has been elected EMBO Young Investigator (2018) and he has obtained an ERC Starting Grant in 2014 and an ERC Consolidator Grant (2020).

Host PI: Ashwin Woodhoo. Gene Regulatory Control in Disease Group, CiMUS.

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