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
Muntané G.; Farré X.; Bosch E.; Martorell L.; Navarro A. and Vilella E. 2020. The shared genetic architecture of schizophrenia, bipolar disorder and lifespan. uman Genetics. doi: 10.1007/s00439-020-02213-8
Heredia-Genestar J.M.; Marques-Bonet T.; Juan D. and Navarro A. 2020.Extreme differences between human germline and tumor mutation densities are driven by ancestral human-specific deviations. Nature Communications. DOI: 10.1038/s41467-020-16296-4
Gil E.; Fedetz M.; Eixarch H.;...[ 12 authors ]...; Bosch E.; Navarro A.; Alcina A.; Montalban X.; Matesanz F. and Comabella M 2020. A New Risk Variant for Multiple Sclerosis at 11q23.3 Locus Is Associated with Expansion of CXCR5+ Circulating Regulatory T Cells.. Journal of clinical Medicine. 9(3) doi: 10.3390/jcm9030625.
Gil-Varea E; Spataro N; Villar L.M.; Tejeda-Velarde A.; Midaglia L.; Matesanz F.; Malhotra S.; Eixarch H.; Patsopoulos N.; Fernández Ó.; Oliver-Martos B.; Saiz A. Llufriu S.; Ramió-Torrentà L.; Quintana E.; Izquierdo G.; Alcina A.; Bosch E.; Navarro A.; Montalban X.; Comabella M. 2020. Targeted resequencing reveals rare variants enrichment in multiple sclerosis susceptibility genes.. Human Mutation. doi: 10.1002/humu.24016
Brasó M.; Povolotskaya I.; Hartasanchez D.; …[ 6 authors ]… Navarro A.; Marqués T.; Rogers J.; Juan D. 2020. Copy number variants and fixed duplications among 198 rhesus macaques (Macaca mulatta).. Plos Genetic. doi: 10.1371/journal.pgen.1008742