This lab’s main line of research at present focuses on the understanding of natural selection and adaptation in humans and primates through the comparative analysis of genomes. Its purpose is to understand complex adaptations through genome-wide analyses of the footprints that natural selection has left in genomes and attempt to place selection in a functional molecular framework of molecular pathways. The Evolutionary Systems Biology Lab is studying differential adaptation among human populations, including several African populations, Roma (as compared to Romanians and Indians) and in Chimpanzees. It has launched a project with the analysis of the haploid sequences of several individuals from all known groups of Southeast Asian pygmies.

Other websites: Bertranpetit Lab


Jaume Bertranpetit Busquets

Bertranpetit Busquets, Jaume
Emeritus UPF Professor
Evolutionary Systems Biology

Nerea Moreno Ruiz

Moreno Ruiz, Nerea
Scientific Support Personnel
Evolutionary Systems Biology

Clarke AC, Prost S, Stanton JA, White WT, Kaplan ME, Matisoo-Smith EA; Genographic Consortium. 2014. From cheek swabs to consensus sequences: An A to Z protocol for high-throughput DNA sequencing of complete human mitochondrial genomes. BMC Genomics, 15(1):1-12. DOI:10.1186/1471-2164-15-68

Utro F, Pybus M, Parida L. 2013. Sum of parts is greater than the whole: Inference of common genetic history of populations. BMC Genomics, 14:1-7. DOI:10.1186/1471-2164-14-S1-S10

Prado-Martinez J, Sudmant PH, Kidd JM, Li H, Kelley JL, Lorente-Galdos B, Veeramah KR, Woerner AE, O'Connor TD, Santpere G, Cagan A, Theunert C, Casals F, Laayouni H, Munch K, Hobolth A, Halager AE, Malig M, Hernandez-Rodriguez J, Hernando-Herraez I, Prüfer K, Pybus M, Johnstone L, Lachmann M, Alkan C, Twigg D, Petit N, Baker C, Hormozdiari F, Fernandez-Callejo M, Dabad M, Wilson ML, Stevison L, Camprubí C, Carvalho T, Ruiz-Herrera A, Vives L, Mele M, Abello T, Kondova I, Bontrop RE, Pusey A, Lankester F, Kiyang JA, Bergl RA, Lonsdorf E, Myers S, Ventura M, Gagneux P, Comas D, Siegismund H, Blanc J, Agueda-Calpena L, Gut M, Fulton L, Tishkoff SA, Mullikin JC, Wilson RK, Gut IG, Gonder MK, Ryder OA, Hahn BH, Navarro A, Akey JM, Bertranpetit J, Reich D, Mailund T, Schierup MH, Hvilsom C, Andrés AM, Wall JD, Bustamante CD, Hammer MF, Eichler EE, Marques-Bonet T. 2013. Great ape genetic diversity and population history. Nature, 499(7459):471-475. DOI:10.1038/nature12228

Prado-Martinez J, Hernando-Herraez I, Lorente-Galdos B, Dabad M, Ramirez O, Baeza-Delgado C, Morcillo-Suarez C, Alkan C, Hormozdiari F, Raineri E, Estellé J, Fernandez-Callejo M, Valles M, Ritscher L, Schöneberg T, de la Calle-Mustienes E, Casillas S, Rubio-Acero R, Melé M, Engelken J, Caceres M, Gomez-Skarmeta JL, Gut M, Bertranpetit J, Gut IG, Abello T, Eichler EE, Mingarro I, Lalueza-Fox C, Navarro A, Marques-Bonet T. 2013. The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild. BMC Genomics, 14(1). DOI:10.1186/1471-2164-14-363

Invergo BM, Montanucci L, Koch K-W, Bertranpetit J, Dell’Orco D. 2013. Exploring the rate-limiting steps in visual phototransduction recovery by bottom-up kinetic modeling. Cell Communication and Signaling, 11(1):36. DOI:10.1186/1478-811X-11-36

Invergo BM, Montanucci L, Laayouni H, Bertranpetit J. 2013. A system-level, molecular evolutionary analysis of mammalian phototransduction. BMC Evolutionary Biology, 13(1). DOI:10.1186/1471-2148-13-52

Haber M, Gauguier D, Youhanna S, Patterson N, Moorjani P, Botigué LR, Platt DE, Matisoo-Smith E, Soria-Hernanz DF, Wells RS, Bertranpetit J, Tyler-Smith C, Comas D, Zalloua PA. 2013. Genome-Wide Diversity in the Levant Reveals Recent Structuring by Culture. PLoS Genetics, 9(2). DOI:10.1371/journal.pgen.1003316

Cagliani R, Guerini FR, Rubio-Acero R, Baglio F, Forni D, Agliardi C, Griffanti L, Fumagalli M, Pozzoli U, Riva S, Calabrese E, Sikora M, Casals F, Comi GP, Bresolin N, Cáceres M, Clerici M, Sironi M. 2013. Long-Standing Balancing Selection in the THBS4 Gene: Influence on Sex-Specific Brain Expression and Gray Matter Volumes in Alzheimer Disease. Human Mutation, 34(5):743-753. DOI:10.1002/humu.22301

Brotherton P, Haak W, Templeton J, Brandt G, Soubrier J, Jane Adler C, Richards SM, Der Sarkissian C, Ganslmeier R, Friederich S, Dresely V, van Oven M, Kenyon R, Van der Hoek MB, Korlach J, Luong K, Ho SYW, Quintana-Murci L, Behar DM, Meller H, Alt KW, Cooper A; Genographic Consortium. 2013. Neolithic mitochondrial haplogroup H genomes and the genetic origins of Europeans. Nature Communications, 4. DOI:10.1038/ncomms2656

Botigué LR, Henn BM, Gravel S, Maples BK, Gignoux CR, Corona E, Atzmon G, Burns E, Ostrer H, Flores C, Bertranpetit J, Comas D, Bustamante CD. 2013. Gene flow from North Africa contributes to differential human genetic diversity in southern europe. Proceedings of the National Academy of Sciences of the United States of America, 110(29):11791-11796. DOI:10.1073/pnas.1306223110

Schurr TG, Dulik MC, Owings AC, Zhadanov SI, Gaieski JB, Vilar MG, Ramos J, Moss MB, Natkong F; Genographic Consortium. 2012. Clan, language, and migration history has shaped genetic diversity in Haida and Tlingit populations from Southeast Alaska. American Journal of Physical Anthropology, 148(3):422-435. DOI:10.1002/ajpa.22068

Sánchez-Quinto F, Schroeder H, Ramirez O, Avila-Arcos MC, Pybus M, Olalde I, Velazquez AM, Marcos ME, Encinas JM, Bertranpetit J, Orlando L, Gilbert MT, Lalueza-Fox C. 2012. Genomic affinities of two 7,000-year-old Iberian hunter-gatherers. Current Biology, 22(16):1494-1499. DOI:10.1016/j.cub.2012.06.005

Melé M, Javed A, Pybus M, Zalloua P, Haber M, Comas D, Netea MG, Balanovsky O, Balanovska E, Jin L, Yang Y, Pitchappan RM, Arunkumar G, Parida L, Calafell F, Bertranpetit J; Genographic Consortium. 2012. Recombination gives a new insight in the effective population size and the history of the old world human populations. Molecular Biology and Evolution, 29(1):25-30. DOI:10.1093/molbev/msr213

Martínez-Cruz B, Harmant C, Platt DE, Haak W, Manry J, Ramos-Luis E, Soria-Hernanz DF, Bauduer F, Salaberria J, Oyharçabal B, Quintana-Murci L, Comas D; Genographic Consortium. 2012. Evidence of pre-roman tribal genetic structure in basques from uniparentally inherited markers. Molecular Biology and Evolution, 29(9):2211-2222. DOI:10.1093/molbev/mss091

Martinez-Cruz B, Ioana M, Calafell F, Arauna LR, Sanz P, Ionescu R, Boengiu S, Kalaydjieva L, Pamjav H, Makukh H, Plantinga T, van der Meer JW, Comas D, Netea MG; Genographic Consortium. 2012. Y-chromosome analysis in individuals bearing the Basarab name of the first dynasty of Wallachian kings. PLoS ONE, 7(7). DOI:10.1371/journal.pone.0041803

Lu Y, Wang C, Qin Z, Wen B, Farina SE, Jin L, Li H; Genographic Consortium. 2012. Mitochondrial origin of the matrilocal Mosuo people in China. Mitochondrial DNA, 23(1):13-19. DOI:10.3109/19401736.2011.643875

Luisi P, Alvarez-Ponce D, Dall’Olio GM, Sikora M, Bertranpetit J, Laayouni H. 2012. Network-level and population genetics analysis of the insulin/TOR signal transduction pathway across human populations. Molecular Biology and Evolution, 29(5):1379-1392. DOI:10.1093/molbev/msr298

Kang L, Lu Y, Wang C, Hu K, Chen F, Liu K, Li S, Jin L, Li H; Genographic Consortium. 2012. Y-chromosome O3 Haplogroup Diversity in Sino-Tibetan Populations Reveals Two Migration Routes into the Eastern Himalayas. Annals of Human Genetics, 76(1):92-99. DOI:10.1111/j.1469-1809.2011.00690.x

Javed A, Melé M, Pybus M, Zalloua P, Haber M, Comas D, Netea MG, Balanovsky O, Balanovska E, Jin L, Yang Y, Arunkumar G, Pitchappan R, Bertranpetit J, Calafell F, Parida L; Genographic Consortium. 2012. Recombination networks as genetic markers in a human variation study of the Old World. Human Genetics, 131(4):601-613. DOI:10.1007/s00439-011-1104-8

Henn BM, Botigué LR, Gravel S, Wang W, Brisbin A, Byrnes JK, Fadhlaoui-Zid K, Zalloua PA, Moreno-Estrada A, Bertranpetit J, Bustamante CD, Comas D. 2012. Genomic ancestry of North Africans supports back-to-Africa migrations. PLoS Genetics, 8(1). DOI:10.1371/journal.pgen.1002397

Dulik MC, Owings AC, Gaieski JB, Vilar MG, Andre A, Lennie C, Mackenzie MA, Kritsch I, Snowshoe S, Wright R, Martin J, Gibson N, Andrews TD, Schurr TG; Genographic Consortium. 2012. Y-chromosome analysis reveals genetic divergence and new founding native lineages in Athapaskan- and Eskimoan-speaking populations. Proceedings of the National Academy of Sciences of the United States of America, 109(22):8471-8476. DOI:10.1073/pnas.1118760109

Dall’Olio GM, Laayouni H, Luisi P, Sikora M, Montanucci L, Bertranpetit J. 2012. Distribution of events of positive selection and population differentiation in a metabolic pathway: The case of asparagine N-glycosylation. BMC Evolutionary Biology, 12(1):1-13. DOI:10.1186/1471-2148-12-98

Casals F, Bertranpetit J. 2012. Human genetic variation, shared and private. Science, 336(6090):39-40. DOI:10.1126/science.1224528

Behar DM, Harmant C, Manry J, van Oven M, Haak W, Martinez-Cruz B, Salaberria J, Oyharçabal B, Bauduer F, Comas D, Quintana-Murci L; Genographic Consortium. 2012. The Basque paradigm: Genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-neolithic times. American Journal of Human Genetics, 90(3):486-493. DOI:10.1016/j.ajhg.2012.01.002

Arunkumar G, Soria-Hernanz DF, Kavitha VJ, Arun VS, Syama A, Ashokan KS, Gandhirajan KT, Vijayakumar K, Narayanan M, Jayalakshmi M, Ziegle JS, Royyuru AK, Parida L, Wells RS, Renfrew C, Schurr TG, Smith CT, Platt DE, Pitchappan R; Genographic Consortium. 2012. Population Differentiation of Southern Indian Male Lineages Correlates with Agricultural Expansions Predating the Caste System. PLoS ONE, 7(11). DOI:10.1371/journal.pone.0050269

Sikora M, Laayouni H, Menendez C, Mayor A, Bardaji A, Sigauque B, Netea MG, Casals F, Bertranpetit J. 2011. A targeted association study of immunity genes and networks suggests novel associations with placental malaria infection. PLoS ONE, 6(9). DOI:10.1371/journal.pone.0024996

Sikora M, Laayouni H, Calafell F, Comas D, Bertranpetit J. 2011. A genomic analysis identifies a novel component in the genetic structure of sub-Saharan African populations. European Journal of Human Genetics, 19(1):84-88. DOI:10.1038/ejhg.2010.141

Parnell LD, Lindenbaum P, Shameer K, Dall'Olio GM, Swan DC, Jensen LJ, Cockell SJ, Pedersen BS, Mangan ME, Miller CA, Albert I. 2011. BioStar: An online question & answer resource for the bioinformatics community. PLoS Computational Biology, 7(10):8-12. DOI:10.1371/journal.pcbi.1002216

Montanucci L, Laayouni H, Dall’Olio GM, Bertranpetit J. 2011. Molecular evolution and network-level analysis of the N-glycosylation metabolic pathway across primates. Molecular Biology and Evolution, 28(1):813-823. DOI:10.1093/molbev/msq259

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

Javed A, Pybus M, Melé M, Utro F, Bertranpetit J, Calafell F, Parida L. 2011. IRiS: Construction of ARG networks at genomic scales. Bioinformatics, 27(17):2448-2450. DOI:10.1093/bioinformatics/btr423

Haber M, Platt DE, Badro DA, Xue Y, El-Sibai M, Bonab MA, Youhanna SC, Saade S, Soria-Hernanz DF, Royyuru A, Wells RS, Tyler-Smith C, Zalloua PA; Genographic Consortium. 2011. Influences of history, geography, and religion on genetic structure: The Maronites in Lebanon. European Journal of Human Genetics, 19(3):334-340. DOI:10.1038/ejhg.2010.177

Gaieski JB, Owings AC, Vilar MG, Dulik MC, Gaieski DF, Gittelman RM, Lindo J, Gau L, Schurr TG; Genographic Consortium. 2011. Genetic ancestry and indigenous heritage in a Native American Descendant Community in Bermuda. American Journal of Physical Anthropology, 146(3):392-405. DOI:10.1002/ajpa.21588

Dall'Olio GM, Marino J, Schubert M, Keys KL, Stefan MI, Gillespie CS, Poulain P, Shameer K, Sugar R, Invergo BM, Jensen LJ, Bertranpetit J, Laayouni H. 2011. Ten simple rules for getting help from online scientific communities. PLoS Computational Biology, 7(9):10-12. DOI:10.1371/journal.pcbi.1002202

Dall’Olio GM, Jassal B, Montanucci L, Gagneux P, Bertranpetit J, Laayouni H. 2011. The annotation of the asparagine N-linked glycosylation pathway in the Reactome database. Glycobiology, 21(11):1395-1400. DOI:10.1093/glycob/cwq21

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