Life as we see it in our planet today has been shaped by many different biological processes, particularly natural selection, during billions of years. These processes leave a signature in our genomes in the form of differences between species, or between individuals of the same species. Interrogating these patterns of genome diversity we can infer what are the forces that affect living organisms, how and when they act and how do they affect such various things as biodiversity, human emotions or the differential susceptibility of different persons to certain diseases. All this knowledge empowers us to control our future but, above all, it is very fun to obtain.
Currently, the main research goals of the group focus on to elucidating how evolution, and particularly natural selection, has shaped genome and phenotype diversity in our lineage. To this end, we combine experiments, models and data analysis. Some specific research lines are as follows:
Chromosomal evolution and speciation
We study how large chromosomal rearrangements affect many aspects of genome structure and evolution, including how they may drive the generation of new species.
Segmental duplications and copy-number variation in primates
The genomes of humans and other primates show an enrichment in Segmental Duplications (SDs) with high sequence identity, plus they present may Copy-Number Variants (CNVs), large genome fragments of which different individuals present different copies. SDs and CNVs are fundamental for the creation of novel genes and may have been key in the evolution of our lineage. We study not only the frequencies and genome locations of these variants, but also the molecular evolution of their sequence content.
Detecting the genomic signature of natural selection
We try to detect the signature of adaptive changes out of single-copy protein-coding regions. We focus in how natural selection may have shaped variability patterns in introns and regulatory regions of genes.
Human disease and its evolutionary implications
We study world-wide patterns of disease susceptibility distribution to ascertain how these may have been influenced by recent human evolution. In addition, we investigate the possible origins of Multiple Sclerosis and its possible relationship with very recent natural selection events in humans.
Complex human traits that are exclusive of our lineage are the basis of our societies and have huge socio-economic impact. We deploy the latest tools of genomics for the dissection of human economic traits.
Lab website: Evolutionary Genomics Lab
Richard Karlsson Linnér; Pietro Biroli; Edward Kong; …[27 authors]…;Gerard Muntané; …[27 authors]…; Carlos Morcillo-Suarez; …[19 authors]…; Arcadi Navarro; …[15 authors]…; Daniel J Benjamin; Philipp Koellinger; Jonathan P Beauchamp 2019. Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. Nature Genetics . doi: 10.1038/s41588-018-0309-3
Martorell L.; Muntané G.; Porta-López S.; Moreno I.; Ortega L.; Montalvo I.; Sanchez-Gistau V.; Monseny R.; Labad J.; Vilella E. 2019. Increased levels of serum leptin in the early stages of psychosis. Journal of Psychiatric Research. 111:24-29 doi: 10.1016/j.jpsychires.2019.01.006
Telford, M.; Navarro, A.; Santpere, G. (2018) Whole genome diversity of inherited chromosomally integrated HHV-6 derived from healthy individuals of diverse geographic origin. Scientific Reports. 8(1):3472 doi: 10.1038/s41598-018-21645-x
Santpere G., Garcia-Esparcia P., Andres-Benito P., Lorente-Galdos B., Navarro A., Ferrer I. 2018. Transcriptional network analysis in frontal cortex in Lewy body diseases with focus on dementia with Lewy bodies. Brain Pathology. 28(3): 315-333 doi: 10.1111/bpa.12511
Muntane G.; Farre X.; Rodriguez J.A.; Pegueroles C.; Hughes D.A.; De Magalhaes J.P.; Gabaldon T.; Navarro A. 2018. Biological processes modulating longevity across primates: A phylogenetic genome-phenome analysis. Molecular Biology and Evolution. 35(8):1990-2004 doi: 10.1093/molbev/msy105