CÁCERES AGUILAR, MARIO

Research Professor
Life & Medical Sciences
Institucio Catalana de Recerca i Estudis Avancats
Spain

Professor Genetics
Biography

Mario Cáceres obtained his PhD at the Universitat Autònoma de Barcelona (UAB) working on Drosophila chromosomal rearrangements (1995-2000). He then moved to the USA as a postdoc at the Salk Institute for Biological Studies (2001-2003) and Emory University (2003-2006), where his research shifted to the use of novel genomic techniques to compare gene-expression levels in humans and non-human primates, as a way to study human unique characteristics. In 2006 he got a Ramón y Cajal position at the Centre for Genomic Regulation in Barcelona, and focused on the identification of genomic changes with potential functional consequences in the human lineage, such as those associated with expression differences and structural variants, especially inversions. In 2010 he joined ICREA and since then leads the Comparative and Functional Genomics group at the Institut de Biotecnologia i de Biomedicina (IBB) of the UAB.

Research Intrest

The genomic revolution has unveiled extraordinary possibilities unthought-of before. In particular, two of the main questions in biology today are understanding genomic structural variation and gene-expression changes, and how they relate to individual and species differences. To address these questions, we use humans as a model and take a multidisciplinary approach that combines new genomic methods and bioinformatic analysis of the great wealth of data available, generating results of interest to many diverse fields. One of our main lines of research is the evolutionary and functional analysis of polymorphic inversions in the human genome, which aims to investigate the biological significance of this type of changes at a global scale. In addition, we are also carrying out an analysis of the genomic determinants of gene-expression changes in the human brain to find out their molecular causes and the role of natural selection in their fixation.

List of Publications
M. Puig, S. Casillas, S. Villatoro, and M. Cáceres§ . Human inversions and their functional consequences. Briefings in Functional Genomics 14: 369‐379.
M. Puig, D. Castellano, L. Pantano, C. Giner‐Delgado, D. Izquierdo, M. Gayà‐Vidal, J. I. Lucas‐Lledó, T. Esko, C. Terao, F. Matsuda, and M. Cáceres§ . Functional impact and evolution of a novel human polymorphic inversion that disrupts a gene and creates a fusion transcript. PLoS Genetics 11(10): e1005495.
D. Vicente‐Salvador, M. Puig, M. Gayà‐Vidal, S. Pacheco, C. Giner‐Delgado, I. Noguera, D. Izquierdo, A. Martínez‐Fundichely, A. Ruiz‐Herrera, X. Estivill, C. Aguado, J. I. Lucas‐Lledó, and M. Cáceres§ . What does the comparison between two assembled genomes really tell us about human inversions?