to Human Diversity

Vairão, Portugal
Jorge Rocha
I am an Associate Professor at the Department of Biology of the Faculty of Sciences of the University of Porto, where I teach courses in human biology, evolution and genetics. I started out as a researcher at the Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), where I led the Genetics, Evolution and Pathology group, before joining Biopolis-CIBIO in the end of 2010 to create the Human Evolutionary Genetics group and fulfill my dream of studying and undertaking fieldwork among African populations.
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My initial steps in human genetics led me to focus on specific genes rather than on populations. In particular, I devoted a substantial part of my work to the evolutionary history and disease implications of variation in human α1-antitrypsin and related genes from the Serine Protease Inhibitor (SERPIN) family. Later on, I developed an interest in genes associated with human adaptation and became involved in the study of the evolution of lactose tolerance, resistance to disease and skin and eye pigmentation.
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For me, the study of specific genes is inextricably linked to the history of populations, their origins, migrations and livelihood practices. My ongoing work with diverse ethnolinguistic groups from Africa started on the archipelago of São Tomé & Príncipe, formed by two tiny plantation islands located at the heart of the Gulf of Guinea, where I studied the relationship between genetic variation and the development of local creole languages in the context of the Atlantic Slave Trade. Within the same sociohistorical framework, I later became interested in the genetic structure of the highly admixed Cape Verde Archipelago, which provides a unique opportunity for understanding the genetic basis of complex traits, including pigmentation.
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At present, I am involved in multiple interdisciplinary studies of language and genetic variation in southern Africa, an area of particular importance to continent-wide migrations associated with food production. In the course of our research, my group has addressed alternative models for the dispersal of Bantu-speaking peoples, traced their interaction with indigenous populations, and followed the footsteps of Khoe-Kwadi-speaking herders on their migratory pathways from eastern Africa into the heart of the Kalahari Basin.





My Publications
Phiri, A., Fehn A.M., Rocha, J., Dande, I. (Forthcoming). Tjwao and Ndebele social contact, Zimbabwe. In Di Garbo,F., Kashima, E., Sinnemäki, K. (eds.). Social foundations of language contact: a comparative survey. Contact and Multilingualism. Language Science Press.
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Fehn, A.M., Rocha, J. 2023. Lost in translation: a historical-comparative reconstruction of Proto-Khoe-Kwadi based on archival data. Diachronica 40(5): 609-665.
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Rocha, J., Coelho, M. (2014). As mudanças culturais podem influenciar a nossa biolologia? O exemplo da digestão da lactose. In: Origem e evolução do homem, ed. by Levy, A., Carrapiço, F., Abreu, H., Pina, M. Esfera do Caos Editores.
Coelho, M., Coia, C.A.V., Luiselli, D., Useli, A., Hagemeijer, T., Amorim, A., Destro-Bisol, G., Rocha, J. (2008). Human Microevolution and the Atlantic Slave Trade. Current Anthropology 49(1): 134-143.
Batini, C., Coia, V., Battaggia, C., Rocha, J., Pilkington, M.M., Spedini, G., Comas, D., Destro-Bisol, G., Calafell, F. (2007). Phylogeography of the human mitochondrial L1c haplogroup: Genetic signatures of the prehistory of Central Africa. Molecular Phylogenetics and Evolution 43(2): 635-644.
Carvalho-Silva, D.R., Tarazona-Santos, E., Rocha, J., Pena, S.D.J., Santos, F.R. (2006). Y Chromosome Diversity in Brazilians: Switching Perspectives from Slow to Fast Evolving Markers. Genetica 126(1-2): 251-260.
Pimenta, J.R., Zuccherato, L.W., Debes, A.A., Maselli, L., Soares, R.P., Moura-Neto, R.S., Rocha, J., Bydlowski, S.P., Pena, S.D.J. (2006). Color and Genomic Ancestry in Brazilians: A Study with Forensic Microsatellites. Human Heredity 62(4): 190-195.
Coelho, M., Luiselli, D., Bertorelle, G., Lopes, A.I., Seixas, S., Destro-Bisol, G., Rocha, R. (2005). Microsatellite variation and evolution of human lactase persistence. Human Genetics 117(4): 329-339.
Parra, F. C., Amado, R.C., Lambertucci, J.R., Rocha, J., Antunes, C.M., Pena, S.D.J. (2003). Color and genomic ancestry in Brazilians. Proceedings of the National Academy of Sciences 100(1): 177-182.
Seixas, S., Ferrand, N., Rocha, J. (2002) Microsatellite variation and evolution of the human Duffy blood group polymorphism. Molecular Biology and Evolution, 19(10): 1802-1806.
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doi: 10.1093/oxfordjournals.molbev.a004003
Tomas, G., Seco, L., Seixas, S., Faustino, P., Lavinha, J., Rocha, J. (2002). The Peopling of Sao Tome (Gulf of Guinea): Origins of Slave Settlers and Admixture with the Portuguese. Human Biology 74(3): 397-411.