Biologia dels sistemes evolutius
La principal línia de recerca d’aquest laboratori és estudiar la selecció natural i l’adaptació en humans i primats a través de l’anàlisi comparativa de genomes. Per fer-ho, s’analitza el rastre que la selecció natural ha deixat en els genomes i s’intenta encaixar la selecció natural dins d’un marc funcional molecular de rutes moleculars. El laboratori de Biologia dels Sistemes Evolutius estudia l’adaptació diferencial dins de les poblacions humanes, entre les quals hi ha diverses poblacions africanes, els romanís (en relació amb els romanesos i els indis) i els ximpanzés. El laboratori ha endegat un projecte per analitzar les seqüències haploides d’una mostra d’individus de tots els grups de pigmeus del sud-est asiàtic.
Pàgina web: Bertranpetit Lab
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
Gunasekaram C, Battiston F, Sadekar O, Padilla-Iglesias C, van Noordwijk MA, Furrer R, Manica A, Bertranpetit J, Whiten A, van Schaik CP, Vinicius L, Migliano AB. 2024. Population connectivity shapes the distribution and complexity of chimpanzee cumulative culture. Science, 386(6724):920-925. DOI:10.1126/science.adk3381
Musciotto F, Dobon B, Greenacre M, Mira A, Chaudhary N, Salali GD, Gerbault P, Schlaepfer R, Astete LH, Ngales M, Gomez-Gardenes J, Latora V, Battiston F, Bertranpetit J, Vinicius L, Migliano AB. 2023. Agta hunter–gatherer oral microbiomes are shaped by contact network structure. Evolutionary Human Sciences, 5:e9. DOI:10.1017/ehs.2023.4
Dobon B, Musciotto F, Mira A, Greenacre M, Schlaepfer R, Aguileta G, Astete LH, Ngales M, Latora V, Battiston F, Vinicius L, Migliano AB, Bertranpetit J. 2023. The making of the oral microbiome in Agta hunter–gatherers. Evolutionary Human Sciences, 5:e13. DOI:10.1017/ehs.2023.9
Villegas-Mirón P, Gallego A, Bertranpetit J, Laayouni H, Espinosa-Parrilla Y. 2022. Signatures of genetic variation in human microRNAs point to processes of positive selection and population-specific disease risks. Human Genetics, 141(10):1673-1693. DOI:10.1007/s00439-021-02423-8
Kuijpers Y, Domínguez-Andrés J, Bakker OB, Gupta MK, Grasshoff M, Xu CJ, Joosten LAB, Bertranpetit J, Netea MG, Li Y. 2022. Evolutionary Trajectories of Complex Traits in European Populations of Modern Humans. Frontiers in Genetics, 13(March):1-10. DOI:10.3389/fgene.2022.833190
Villegas-Mirón P, Acosta S, Nye J, Bertranpetit J, Laayouni H. 2021. Chromosome X-wide Analysis of Positive Selection in Human Populations: Common and Private Signals of Selection and its Impact on Inactivated Genes and Enhancers. Frontiers in Genetics, 12(September):1-15. DOI:10.3389/fgene.2021.714491
Flores-Bello A, Bauduer F, Salaberria J, Oyharçabal B, Calafell F, Bertranpetit J, Quintana-Murci L, Comas D. 2021. Genetic origins, singularity, and heterogeneity of Basques. Current Biology, 31: 1-11. DOI: 10.1016/j.cub.2021.03.010
Domínguez-Andrés J, Kuijpers Y, Bakker OB, Jaeger M, Xu CJ, Van der Meer JW, Jakobsson M, Bertranpetit J, Joosten LA, Li Y, Netea MG. 2021. Evolution of cytokine production capacity in ancient and modern European populations. eLife, 10:1-30. DOI:10.7554/eLife.64971
Castelli EC, de Almeida BS, Muniz YCN, Silva NSB, Passos MRS, Souza AS, Page AE, Dyble M, Smith D, Aguileta G, Bertranpetit J, Migliano AB, Duarte YAO, Scliar MO, Wang J, Passos-Bueno MR, Naslavsky MS, Zatz M, Mendes-Junior CT, Donadi EA. 2021. HLA-G genetic diversity and evolutive aspects in worldwide populations. Scientific Reports, 11(1):23070. DOI:10.1038/s41598-021-02106-4
Borsari B, Villegas-Mirón P, Pérez-Lluch S, Turpin I, Laayouni H, Segarra-Casas A, Bertranpetit J, Guigó R, Acosta S. 2021. Enhancers with tissue-specific activity are enriched in intronic regions. Genome Research, 31(8):1325-1336. DOI:10.1101/gr.270371.120
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
Walsh S, Pagani L, Xue Y, Laayouni H, Tyler-Smith C, Bertranpetit J. 2020. Positive selection in admixed populations from Ethiopia. BMC Genetics, 21(Suppl 1):1-17. DOI:10.1186/s12863-020-00908-5
Nye J, Mondal M, Bertranpetit J, Laayouni H. 2020. A fully integrated machine learning scan of selection in the chimpanzee genome. NAR Genomics and Bioinformatics, 2(3). DOI:10.1093/nargab/lqaa061
García-Fernández C, Font-Porterias N, Kučinskas V, Sukarova-Stefanovska E, Pamjav H, Makukh H, Dobon B, Bertranpetit J, Netea MG, Calafell F, Comas D. 2020. Sex-biased patterns shaped the genetic history of Roma. Scientific Reports, 10(1):14464. DOI: 10.1038/s41598-020-71066-y
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
Bianco E, Laval G, Font-Porterias N, García-Fernández C, Dobon B, Sabido-Vera R, Sukarova Stefanovska E, Kučinskas V, Makukh H, Pamjav H, Quintana-Murci L, Netea MG, Bertranpetit J, Calafell F, Comas D. 2020. Recent common origin, reduced population size, and marked admixture have shaped European roma genomes. Molecular Biology and Evolution, 37(11):3175–3187. DOI: 10.1093/molbev/msaa156
Mondal M, Bertranpetit J, Lao O. 2019. Approximate Bayesian computation with deep learning supports a third archaic introgression in Asia and Oceania. Nature Communications. 2019;10(1). doi:10.1038/s41467-018-08089-7
Dobon B, Rossell C, Walsh S, Bertranpetit J. 2019. Is there adaptation in the human genome for taste perception and phase i biotransformation? BMC Evolutionary Biology, 19(1):1-10. DOI:10.1186/s12862-019-1366-7
Dobon B, Montanucci L, Peretó J, Bertranpetit J, Laayouni H. 2019. Gene connectivity and enzyme evolution in the human metabolic network. Biology Direct, 14(1):1-14. DOI:10.1186/s13062-019-0248-7
Nye J, Laayouni H, Kuhlwilm M, Mondal M, Marques-Bonet T, Bertranpetit J. 2018. Selection in the introgressed regions of the chimpanzee genome. Genome Biology and Evolution, 10(4):1132-1138. DOI:10.1093/gbe/evy077
Montanucci L, Laayouni H, Dobon B, Keys KL, Bertranpetit J, Peretó J. 2018. Influence of pathway topology and functional class on the molecular evolution of human metabolic genes. PLoS ONE, 13(12):1-17. DOI:10.1371/journal.pone.0208782
Mondal M, Casals F, Majumder PP, Bertranpetit J. 2018. Reply to ‘No evidence for unknown archaic ancestry in South Asia.’ Nature Genetics, 50(12):1637-1639. DOI:10.1038/s41588-018-0280-z
Mattle-Greminger MP, Bilgin Sonay T, Nater A, Pybus M, Desai T, de Valles G, Casals F, Scally A, Bertranpetit J, Marques-Bonet T, van Schaik CP, Anisimova M, Krützen M. 2018. Genomes reveal marked differences in the adaptive evolution between orangutan species. Genome Biology, 19(1):193. DOI:10.1186/s13059-018-1562-6
Casillas S, Mulet R, Villegas-Mirón P, Hervas S, Sanz E, Velasco D, Bertranpetit J, Laayouni H, Barbadilla A. 2018. PopHuman: the human population genomics browser. Nucleic Acids Research, 46(D1):D1003-D1010. DOI:10.1093/nar/gkx943
Nagle N, van Oven M, Wilcox S, van Holst Pellekaan S, Tyler-Smith C, Xue Y, Ballantyne KN, Wilcox L, Papac L, Cooke K, van Oorschot RA, McAllister P, Williams L, Kayser M, Mitchell RJ, Genographic Consortium. 2017. Aboriginal Australian mitochondrial genome variation - An increased understanding of population antiquity and diversity. Scientific Reports, 7:1-12. DOI:10.1038/srep43041
Mondal M, Bergström A, Xue Y, Calafell F, Laayouni H, Casals F, Majumder PP, Tyler-Smith C, Bertranpetit J. 2017. Y-chromosomal sequences of diverse Indian populations and the ancestry of the Andamanese. Human Genetics, 136(5):499-510. DOI:10.1007/s00439-017-1800-0
Jofré P, Das P, Bertranpetit J, Foley R. 2017. Cosmic phylogeny: Reconstructing the chemical history of the solar neighbourhood with an evolutionary tree. Monthly Notices of the Royal Astronomical Society, 467(1):1140-1153. DOI:10.1093/mnras/stx075
Mondal M, Casals F, Xu T, Dall'Olio GM, Pybus M, Netea MG, Comas D, Laayouni H, Li Q, Majumder PP, Bertranpetit J. 2016. Genomic analysis of Andamanese provides insights into ancient human migration into Asia and adaptation. Nature Genetics, 48(9):1066-1070. DOI:10.1038/ng.3621
Martínez-Cruz B, Mendizabal I, Harmant C, de Pablo R, Ioana M, Angelicheva D, Kouvatsi A, Makukh H, Netea MG, Pamjav H, Zalán A, Tournev I, Marushiakova E, Popov V, Bertranpetit J, Kalaydjieva L, Quintana-Murci L, Comas D. 2016. Origins, admixture and founder lineages in European Roma. European Journal of Human Genetics, 24(6):937-943. DOI:10.1038/ejhg.2015.201
Julià A, González I, Fernández-Nebro A, Blanco F, Rodriguez L, González A, Cañete JD, Maymó J, Alperi-López M, Olivé A, Corominas H, Martínez-Taboada V, Erra A, Sánchez-Fernández S, Alonso A, Lopez-Lasanta M, Tortosa R, Codó L, Gelpi JL, García-Montero AC, Bertranpetit J, Absher D, Bridges SL Jr, Myers RM, Tornero J, Marsal S. 2016. A genome-wide association study identifies SLC8A3 as a susceptibility locus for ACPA-positive rheumatoid arthritis. Rheumatology (United Kingdom), 55(6):1106-1111. DOI:10.1093/rheumatology/kew035
Fernández-Sampedro MA, Invergo BM, Ramon E, Bertranpetit J, Garriga P. 2016. Functional role of positively selected amino acid substitutions in mammalian rhodopsin evolution. Scientific Reports, 6:1-13. DOI:10.1038/srep21570
Calafell F, Anglada R, Bonet N, González-Ruiz M, Prats-Muñoz G, Rasal R, Lalueza-Fox C, Bertranpetit J, Malgosa A, Casals F. 2016. An assessment of a massively parallel sequencing approach for the identification of individuals from mass graves of the Spanish Civil War (1936–1939). Electrophoresis, 37(21):2841-2847. DOI:10.1002/elps.201600180
Cagan A, Theunert C, Laayouni H, Santpere G, Pybus M, Casals F, Prüfer K, Navarro A, Marques-Bonet T, Bertranpetit J, Andrés AM. 2016. Natural selection in the great apes. Molecular Biology and Evolution, 33(12):3268-3283. DOI:10.1093/molbev/msw215
Aterido A, Julià A, Ferrándiz C, Puig L, Fonseca E, Fernández-López E, Dauden E, Sánchez-Carazo JL, López-Estebaranz JL, Moreno-Ramírez D, Vanaclocha F, Herrera E, de la Cueva P, Dand N, Palau N, Alonso A, López-Lasanta M, Tortosa R, García-Montero A, Codó L, Gelpí JL, Bertranpetit J, Absher D, Capon F, Myers RM, Barker JN, Marsal S. 2016. Genome-Wide Pathway Analysis Identifies Genetic Pathways Associated with Psoriasis. Journal of Investigative Dermatology, 136(3):593-602. DOI:10.1016/j.jid.2015.11.026
Solé-Morata N, Bertranpetit J, Comas D, Calafell F. 2015. Y-chromosome diversity in Catalan suRNAme samples: Insights into suRNAme origin and frequency. European Journal of Human Genetics, 23(11):1549-1557. DOI:10.1038/ejhg.2015.14
Pybus M, Luisi P, Dall'Olio GM, Uzkudun M, Laayouni H, Bertranpetit J, Engelken J. 2015. Hierarchical boosting: A machine-learning framework to detect and classify hard selective sweeps in human populations. Bioinformatics, 31(24):3946-3952. DOI:10.1093/bioinformatics/btv493
Luisi P, Alvarez-Ponce D, Pybus M, Fares MA, Bertranpetit J, Laayouni H. 2015. Recent positive selection has acted on genes encoding proteins with more interactions within the whole human interactome. Genome Biology and Evolution, 7(4):1141-1154. DOI:10.1093/gbe/evv055
Gineau L, Luisi P, Castelli EC, Milet J, Courtin D, Cagnin N, Patillon B, Laayouni H, Moreau P, Donadi EA, Garcia A, Sabbagh A. 2015. Balancing immunity and tolerance: Genetic footprint of natural selection in the transcriptional regulatory region of HLA-G. Genes and Immunity, 16(1):57-70. DOI:10.1038/gene.2014.63
Dobon B, Hassan HY, Laayouni H, Luisi P, Ricaño-Ponce I, Zhernakova A, Wijmenga C, Tahir H, Comas D, Netea MG, Bertranpetit J. 2015. The genetics of East African populations: A Nilo-Saharan component in the African genetic landscape. Scientific Reports, 5(November 2014):1-11. DOI:10.1038/srep09996
Dall’Olio GM, Vahdati AR, Bertranpetit J, Wagner A, Laayouni H. 2015. VCF2Networks: Applying genotype networks to single-nucleotide variants data. Bioinformatics, 31(3):438-439. DOI:10.1093/bioinformatics/btu650
Yamamoto F, Cid E, Yamamoto M, Saitou N, Bertranpetit J, Blancher A. 2014. An integrative evolution theory of histo-blood group ABO and related genes. Scientific Reports, 4:1-12. DOI:10.1038/srep06601
Solé-Morata, N.; Bertranpetit, J.; Comas, D.; and Calafell, F. 2014. Recent Radiation of R-M269 and High Y-STR Haplotype Resemblance Confirmed. Annals of Human Genetics 78 (4):253-254.
Sabbagh A, Luisi P, Castelli EC, Gineau L, Courtin D, Milet J, Massaro JD, Laayouni H, Moreau P, Donadi EA, Garcia A. 2014. Worldwide genetic variation at the 3′ untranslated region of the HLA-G gene: Balancing selection influencing genetic diversity. Genes and Immunity, 15(2):95-106. DOI:10.1038/gene.2013.67
Pybus M, Dall'Olio GM, Luisi P, Uzkudun M, Carreño-Torres A, Pavlidis P, Laayouni H, Bertranpetit J, Engelken J. 2014. 1000 Genomes Selection Browser 1.0: A genome browser dedicated to signatures of natural selection in modern humans. Nucleic Acids Research, 42(D1):903-909. DOI:10.1093/nar/gkt1188
Laayouni H, Oosting M, Luisi P, Ioana M, Alonso S, Ricaño-Ponce I, Trynka G, Zhernakova A, Plantinga TS, Cheng SC, van der Meer JW, Popp R, Sood A, Thelma BK, Wijmenga C, Joosten LA, Bertranpetit J, Netea MG. 2014. Convergent evolution in European and Rroma populations reveals pressure exerted by plague on Toll-like receptors. Proceedings of the National Academy of Sciences of the United States of America, 111(7):2668-2673. DOI:10.1073/pnas.1317723111
Juyal G, Mondal M, Luisi P, Laayouni H, Sood A, Midha V, Heutink P, Bertranpetit J, Thelma BK, Casals F. 2014. Population and genomic lessons from genetic analysis of two Indian populations. Human genetics, 133(10):1273-1287. DOI:10.1007/s00439-014-1462-0
Invergo BM, Dell’Orco D, Montanucci L, Koch KW, Bertranpetit J. 2014. A comprehensive model of the phototransduction cascade in mouse rod cells. Molecular BioSystems, 10(6):1481-1489. DOI:10.1039/c3mb70584f
Dall’Olio GM, Bertranpetit J, Wagner A, Laayouni H. 2014. Human genome variation and the concept of genotype networks. PLoS ONE, 9(6). DOI:10.1371/journal.pone.0099424
Colonna V, Ayub Q, Chen Y, Pagani L, Luisi P, Pybus M, Garrison E, Xue Y, Tyler-Smith C; 1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA. 2014. Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences. Genome Biology, 15(6):1-14. DOI:10.1186/gb-2014-15-6-r88