El grup estudia diferents aspectes de la diversitat genètica humana, inclosos tant l’arquitectura de la predisposició genètica a malalties complexes com la de l’adaptació humana. Amb aquesta finalitat, analitzem dades genòmiques de casos i controls o de poblacions geogràficament diverses, i apliquem diferents mètodes d’associació de variants rares i de detecció de selecció. Fent servir prediccions in silico, tècniques de biologia molecular i dades fenotípiques, el grup de Genètica evolutiva de poblacions pretén elucidar les variants genètiques i els fenotips moleculars que es troben en la base funcional de diverses adaptacions humanes.

Pàgina web: Bosch Lab

Investigador principal

Elena Bosch Fusté

Bosch Fusté, Elena
UPF Associate Professor
Evolutionary Population Genetics Lab

Membres del grup

Simone Andrea Biagini

Biagini, Simone Andrea
Postdoctoral Researcher
Evolutionary Population Genetics Lab

JORGE GARCIA CALLEJA

GARCIA CALLEJA, JORGE
Predoctoral en Formació FPI-MINECO
Biologia Evolutiva

Xavier Martí i Pérez

Martí i Pérez, Xavier
Predoctoral en Formació UPF
Biologia Evolutiva

Projectes en curs

Publicacions

Sinigaglia B, Escudero J, Biagini SA, Garcia-Calleja J, Moreno J, Dobon B, Acosta S, Mondal M, Walsh S, Aguileta G, Vallès M, Forrow S, Martin-Caballero J, Migliano AB, Bertranpetit J, Muñoz FJ, Bosch E. 2024. Exploring Adaptive Phenotypes for the Human Calcium-Sensing Receptor Polymorphism R990G. Molecular Biology and Evolution, 41(2):1-18. DOI:10.1093/molbev/msae015

Roca-Umbert A, Garcia-Calleja J, Vogel-González M, Fierro-Villegas A, Ill-Raga G, Herrera-Fernández V, Bosnjak A, Muntané G, Gutiérrez E, Campelo F, Vicente R, Bosch E. 2023. Human genetic adaptation related to cellular zinc homeostasis. PLOS Genetics, 19(9):e1010950. DOI:10.1371/journal.pgen.1010950

Muntané G, Vázquez-Bourgon J, Sada E, Martorell L, Papiol S, Bosch E, Navarro A, Crespo-Facorro B, Vilella E. 2023. Polygenic risk scores enhance prediction of body mass index increase in individuals with a first episode of psychosis. European Psychiatry, 66(1):e28. DOI:10.1192/j.eurpsy.2023.9

Caro-Consuegra R, Lucas-Sánchez M, Comas D, Bosch E. 2023. Identifying signatures of positive selection in human populations from North Africa. Scientific Reports, 13(1):8166. DOI:10.1038/s41598-023-35312-3

Roca-Umbert A, Caro-Consuegra R, Londono-Correa D, Rodriguez-Lozano GF, Vicente R, Bosch E.2022. Understanding signatures of positive natural selection in human zinc transporter genes. Scientific Reports, 12(1):4320. DOI:10.1038/s41598-022-08439-y

Caro-Consuegra R, Nieves-Colón MA, Rawls E, Rubin-de-Celis V, Lizárraga B, Vidaurre T, Sandoval K, Fejerman L, Stone AC, Moreno-Estrada A, Bosch E. 2022. Uncovering signals of positive selection in Peruvian populations from three ecological regions. Molecular Biology and Evolution, 39(8). DOI:10.1093/molbev/msac158

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, 38(7):2804-2817. 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; 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

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

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

Urnikyte A.; Flores-Bello A.; Mondal M.; Molyte A.; Comas D.; Calafell F.; Bosch E.; Kučinskas V.   2019. Patterns of genetic structure and adaptive positive selection in the Lithuanian population from high-density SNP data. Scientific Reports. 9163 doi: doi: 10.1038/s41598-019-45746-3

Urnikyte A, Flores-Bello A, Mondal M, Molyte A, Comas D, Calafell F, Bosch E, Kučinskas V. 2019. Patterns of genetic structure and adaptive positive selection in the Lithuanian population from high-density SNP data. Scientific Reports, 9(1):1-11. DOI:10.1038/s41598-019-45746-3

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, 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. Human Molecular Genetics, 26(3):489-500. DOI: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. Movement Disorders, 32(1):165-169. DOI: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. Nature Ecology and Evolution, 1(3):1-5. DOI:10.1038/s41559-016-0055

Delgado J, Bielig T, Bonet L, Carnero-Montoro E, Puente XS, Colomer D, Bosch E, Campo E, Lozano F. 2017. Impact of the functional CD5 polymorphism A471V on the response of chronic lymphocytic leukaemia to conventional chemotherapy regimens. British Journal of Haematology, 177(1):147-150. DOI:10.1111/bjh.14037

Engelken J, Espadas G, Mancuso FM, Bonet N, Scherr AL, Jímenez-Álvarez V, Codina-Solà M, Medina-Stacey D, Spataro N, Stoneking M, Calafell F, Sabidó E, Bosch E. 2016. Signatures of evolutionary adaptation in quantitative trait loci influencing trace element homeostasis in liver. Molecular Biology and Evolution, 33(3):738-754. DOI:10.1093/molbev/msv267

Santpere G, Carnero-Montoro E, Petit N, Serra F, Hvilsom C, Rambla J, Heredia-Genestar JM, Halligan DL, 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. DOI:10.1093/gbe/evv082

Engelken J, Carnero-Montoro E, Pybus M, Andrews GK, Lalueza-Fox C, Comas D, Sekler I, de la Rasilla M, Rosas A, Stoneking M, Valverde MA, Vicente R, Bosch E. 2014. Extreme Population Differences in the Human Zinc Transporter ZIP4 (SLC39A4) Are Explained by Positive Selection in Sub-Saharan Africa. PLoS Genetics, 10(2). DOI:10.1371/journal.pgen.1004128

Cenit MC, Martínez-Florensa M, Consuegra M, Bonet L, Carnero-Montoro E, Armiger N, Caballero-Baños M, Arias MT, Benitez D, Ortego-Centeno N, de Ramón E, Sabio JM, García-Hernández FJ, Tolosa C, Suárez A, González-Gay MA, Bosch E, Martín J, Lozano F. 2014. Analysis of ancestral and functionally relevant CD variants in systemic lupus erythematosus patients. PLoS ONE, 9(11):1-9. DOI:10.1371/journal.pone.0113090

Sturm S, Engelken J, Gruber A, Vugrinec S, Kroth PG, 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). DOI:10.1186/1471-2148-13-159

Spataro N, Farfán M, Albarral V, Sanglas A, Lorén JG, Fusté MC, Bosch E. 2013. Draft genome sequence of Aeromonas molluscorum strain 848TT, isolated from bivalve molluscs. Genome Announcements, 1(3):3-4. DOI:10.1128/genomeA.00382-13

Farfán M, Spataro N, Sanglas A, Albarral V, Lorén JG, Bosch E, Fusté MC. 2013. Draft genome sequence of the Aeromonas diversa type strain. Genome Announcements, 1(3):0-1. DOI:10.1128/genomeA.00330-13

Carnero-Montoro E, Bonet L, Engelken J, Bielig T, Martínez-Florensa M, Lozano F, Bosch E. 2012. Evolutionary and functional evidence for positive selection at the human CD5 immune receptor gene. Molecular Biology and Evolution, 29(2):811-823. DOI:10.1093/molbev/msr251

Myles S, Lea RA, Ohashi J, Chambers GK, Weiss JG, Hardouin E, Engelken J, Macartney-Coxson DP, Eccles DA, Naka I, Kimura R, Inaoka T, Matsumura Y, Stoneking M. 2011. Testing the thrifty gene hypothesis: The Gly482Ser variant in PPARGC1A is associated with BMI in Tongans. BMC Medical Genetics, 12. DOI:10.1186/1471-2350-12-10

Laayouni H, Montanucci L, Sikora M, Melé M, Dall'Olio GM, Lorente-Galdos B, McGee KM, Graffelman J, Awadalla P, Bosch E, Comas D, Navarro A, Calafell F, Casals F, Bertranpetit J. 2011. Similarity in recombination rate estimates highly correlates with genetic differentiation in humans. PLoS ONE, 6(3). DOI:10.1371/journal.pone.0017913

Gazave E, Darré F, Morcillo-Suarez C, Petit-Marty N, Carreño A, Marigorta UM, Ryder OA, Blancher A, Rocchi M, Bosch E, Baker C, Marquès-Bonet T, Eichler EE, Navarro A. 2011. Copy number variation analysis in the great apes reveals species-specific patterns of structural variation. Genome Research, 21(10):1626-1639. DOI:10.1101/gr.117242.110