This lab carries out research into different aspects of human genetic diversity, such as the architecture of the genetic predisposition to complex disease and of human adaptation. To this end, sequencing data from different control/case settings or geographically diverse populations are often analysed, and methods for rare variant association and genome-wide detection of selection are subsequently applied. By using in silico predictions, molecular biology techniques and phenotypic data, the Evolutionary Population Genetics lab aims to elucidate the genetic variants and molecular phenotypes underlying the functional basis of different human adaptations.
Lab website: Bosch Lab
Principal Investigator
Current members
Ongoing projects
Publications
Muntané G, Farré X, Bosch E, Martorell L, Navarro A, Vilella E. 2021. The shared genetic architecture of schizophrenia, bipolar disorder and lifespan. Human Genetics, 140(3):441–455. DOI: 10.1007/s00439-020-02213-8
Garcia-Ruiz B, de Moura MC, Muntané G, Martorell L, Bosch E, Esteller M, J Canales-Rodríguez E, Pomarol-Clotet E, Jiménez E, Vieta E, Vilella E. 2021. DDR1 methylation is associated with bipolar disorder and the isoform expression and methylation of myelin genes. Epigenomic, 13(11):845-858. DOI: 10.2217/epi-2021-0006.
Font-Porterias N, Caro-Consuegra R, Lucas-Sánchez M, Lopez M, Giménez A, Carballo A, Bosch E, Calafell F, Quintana-Murci L, Comas D. 2021. The counteracting effects of demography on functional genomic variation: the Roma paradigm. Molecular Biology and Evolution. DOI: 10.1093/molbev/msab070.
Casadó-Llombart S, Velasco-de Andrés M, Català C, Leyton-Pereira A, Lozano F, Bosch E. 2021. Contribution of Evolutionary Selected Immune Gene Polymorphism to Immune-Related Disorders: The Case of Lymphocyte Scavenger Receptors CD5 and CD6. International Journal of Molecular Sciences, 22(10):5315. DOI:10.3390/ijms22105315
Walsh S, Izquierdo-Serra M, Acosta S, Edo A, Lloret M, Moret R, Bosch E, Oliva B, Bertranpetit J, Fernández-Fernández JM. 2020. Adaptive selection drives TRPP3 loss-of-function in an Ethiopian population. Scientific Reports, 10(1):1-16. DOI:10.1038/s41598-020-78081-z
Gil-Varea E, Fedetz M, Eixarch H, Spataro N, Villar LM, Urcelay E, Saiz A, Fernández Ó, Leyva L, Ramió-Torrentà L, Vandenbroeck K, Otaegui D, Castillo-Triviño T, Izquierdo G, Malhotra S, Bosch E, Navarro A, Alcina A, Montalban X, Matesanz F, 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):625. 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
Dobon B, Ter Horst R, Laayouni H, Mondal M, Bianco E, Comas D, Ioana M, Bosch E, Bertranpetit J, Netea MG. 2020. The shaping of immunological responses through natural selection after the Roma Diaspora. Scientific Reports, 10(1):1–12. DOI: 10.1038/s41598-020-73182-1
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. European Journal of Human Genetics, 26(12):1859-1866. DOI:10.1038/s41431-018-0232-1
Buxadé M, Huerga Encabo H, Riera-Borrull M, Quintana-Gallardo L, López-Cotarelo P, Tellechea M, Martínez-Martínez S, Redondo JM, Martín-Caballero J, Flores JM, Bosch E, Rodríguez-Fernández JL, Aramburu J, López-Rodríguez C. 2018. Macrophage-specific MHCII expression is regulated by a remote Ciita enhancer controlled by NFAT5. Journal of Experimental Medicine, 215(11):2901-2918. DOI:10.1084/jem.20180314
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. Movement Disorders. 32(1):165-169
Spataro, N.; Calafell, F.; Cervera-Carles, L.; [6 authors]; Navarro, A.; iClarimón, J.; Bosch, E. 2015. Mendelian genes for Parkinson's disease contribute to the sporadic forms of the disease. Human Molecular Genetics 24(7): 2023-2034.
Santpere, G.; Carnero-Montoro., E.; Petit, N.; [5 authors]; Dopazo, H.; Navarro, A.; Bosch, E. 2015. Analysis of Five Gene Sets in Chimpanzees Suggests Decoupling between the Action of Selection on Protein-Coding and on Noncoding Elements. Genome Biology and Evolution 7(6): 1490-1505.
Engelken, J.; Carnero-Montoro, E.; Pybus, M.; Andrews, G.K.; Lalueza-Fox, C.; Comas, D.; Sekler, I.; de la Rasilla, M.; Rosas, A.; Stoneking, M.; Valverde, M.A.; Vicente, R.; and Bosch, E. 2014. Extreme Population Differences in the Human Zinc Transporter ZIP4 (SLC39A4) Are Explained by Positive Selection in Sub-Saharan Africa. PLoS Genet. 10 (2):e1004128
Cenit, M.C.; Martínez-Florensa, M.; Consuegra, M.; [13 authors]; Bosch, E.; Martín, J.; and Lozano, F. 2014. Analysis of Ancestral and Functionally Relevant CD5 Variants in Systemic Lupus Erythematosus Patients. Plos One 9(11): e113090.
Sturm, S.; Engelken, J.; Gruber, A.; Vugrinec, S.; G Kroth, P.; Adamska, I.; Lavaud, J. 2013. A novel type of light-harvesting antenna protein of red algal origin in algae with secondary plastids. BMC Evolutionary Biology. 13 (1):159
Spataro, N.; Farfan, M.; Albarral, V.; Sanglas, A.; Lorén, J.G.; Fusté, MC.; Bosch, E. 2013. Draft GenomeSequence of Aeromonos molluscorum Strain 848T, Isolated from Bivalve Mollucs. Genome Announcements. 1 (3):e00382
Farfán, M.; Spataro, Ni.; Sanglas, A.; Albarral, V.; Lorén, J. G.; Bosch, E.; Fusté, M. Carmen. 2013. Draft Genome Sequence of the Aeromonas diversa Type Strain. Genome Announcements. 1 (3)