Mario Cáceres

Universitat Autònoma de Barcelona

Life & Medical Sciences

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 interests

The genomic revolution has unveiled extraordinary possibilities unthought-of before. In particular, two important 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.

Selected publications

- Vicente-Salvador D, Puig M, Gayà-Vidal M, Pacheco S, Giner-Delgado C, Noguera I, Izquierdo D, Martínez-Fundichely A, Ruiz-Herrera A, Estivill X, Aguado C, Lucas-Lledó JI & Cáceres M 2017, 'Detailed analysis of inversions predicted between two human genomes: errors, real polymorphisms, and their origin and population distribution', Human Molecular Genetics, 26, 3, 567 - 581.

Selected research activities

− Carla Giner Delgado Doctoral Thesis. Title: Large-scale evolutionary analysis of polimorphic inversions in the human genome. Universitat Autònoma de Barcelona, December 19, 2017.

− Teresa Soos Master Thesis. Title: Validation of polymorphic human inversions and setting up of high-throughput genotyping assays. University of Natural Resources and Life Sciences, Vienna, April 28, 2017.

− Jorge de los Santos Castela Master Thesis. Title: Mosaicism detection in human inversions. Universitat Autònoma de Barcelona, July 11, 2017.

− Juan Ochoteco Asensio Master Thesis. Title: Re-annotation of the Drosophila buzzatii genome. Universitat Autònoma de Barcelona, September 8, 2017.

− Co-organizer of the V Bioinformatics and Genomics Symposium of the Societat Catalana de Biologia. December 20, 2017. Barcelona, Spain.

− Coordinator of the Genomics and Proteomics Section of the Societat Catalana de Biologia.

− BMC Genomics Associate Editor.

− Genes journal Associate Editor.