Elena Bosch

Group website

Research Outline

Our research focuses on investigating different aspects of human genetic diversity. In particular, we are interested in the architecture of the genetic predisposition to complex disease and in adaptive traits that have undergone positive selection during human evolution. For that, we usually analyze genomewide data from different case/control settings or geographically diverse populations and apply state-of-the-art methods for variant association and detection of selection. Moreover, we also aim to elucidate the genetic variants and molecular phenotypes underlying the genetic basis of adaptations presumably related to pathogen interaction and diet by using in silico functional predictions and relevant molecular biology techniques.

 

Research Lines

  • Role of natural selection in disease genes.

We study the selective pressures acting in genes associated to Mendelian and complex diseases to understand differences in penetrance, age of onset, and risk allele frequencies between disorders. Also by identifying signatures of selection on pleiotropic disease variants we aim to understand the evolutionary causes of senescence.

  • Adaptation to zinc deficiency.

Low levels of zinc in soil easily translate to this essential micronutrient deficiency. We thus aim to analyse signatures of classical selective sweeps and polygenic selection in the 24 zinc transporter genes known in humans by exploring several populations living in different zinc deficient areas.

  • Adaptations in the New World.

In collaboration with the “Human evolutionary and population genomics” group at CINESTAV (México), we use genomic data and computational tools to infer demographic events and signatures of adaptation in indigenous populations from the Americas inhabiting differentiated ecological regions.

 

 

Team during 2017-18

  • PhD students: Juan Antonio Rodríguez, Ana Roca-Umbert, Barbara Sinigaglia, Rocío Caro
     
  • Technicians: Mònica Vallès.
     

Selected publications 2017-18

  • Spataro N, Rodríguez JA, Navarro A, Bosch E (2017) Properties of human disease genes and the role of genes linked to Mendelian disorders in complex disease aetiology. Hum Mol Genet. 26 (3): 489-500. https://dx.doi.org/10.1093/hmg/ddw405.

  • Spataro N, Roca-Umbert A, Cervera-Carles L, Vallès M, Anglada R, Pagonabarraga J, Pascual-Sedano B, Campolongo A, Kulisevsky J, Casals F, Clarimón J, Bosch E (2017) Detection of genomic rearrangements from targeted resequencing data in Parkinson’s disease patients. Mov Disord. 32(1):165-169. https://dx.doi.org/10.1002/mds.26845.  

  • Rodríguez JA, Marigorta UM, Hughes DA, Spataro N, Bosch E*, Navarro A* (2017) Antagonistic pleiotropy and mutation accumulation influence human senescence and disease. Nat Ecol Evol. 1(3):55. https://dx.doi.org/10.1038/s41559-016-0055.  

  • Flores-Bello A, Mas-Ponte D, Rosu ME, Bosch E, Calafell F, Comas D (2018) Sequence diversity of the Rh blood group system in Basques. Eur J Hum Genet. 26: 1859–1866. https://doi.org/10.1038/s41431-018-0232-1.

  • Buxadé M, Huerga Encabo H, Riera-Borrull M, Quintana-Gallardo L, Lopez-Cotarelo P, Tellechea M, Martinez-Martinez S, Redondo JM, Martin-Caballero J, Flores J, Bosch E, Rodríguez-Fernandez JL, Aramburu J, Lopez-Rodríguez C (2018) Macrophage-specific MHCII expression is regulated by a remote Ciita enhancer controlled by NFAT5. J Exp Med. 215(11):2901-2918. https://dx.doi.org/10.1084/jem.201803.

 

Other relevant information 2017-18

  • Organization of a B debate on “Natural Selection in Humans: Understanding our adaptations”. Palau Macaya, Barcelona, 17th and 18th July 2017. Scientific leaders: Jaume Bertranpetit & Elena Bosch.

  • Doctoral Thesis: “Testing two evolutionary theories of ageing by using public genomewide data“. Universitat Pompeu Fabra. Student: Juan Antonio Rodríguez Pérez. Co-directed: Arcadi Navarro & Elena Bosch. Defence: 24 January 2017.

 

Signals of recent selection in the Yanesha (lowland) and Aymara (highland) Peruvian populations.