Genetics in the Study of Human Evolution


Prof. Guido Barbujani
University of Ferrara


Recent, major technological advances are now offering us unprecedented insight into human diversity at the genomic level. We now know that humans are genetically less variable than all other primates, reflecting small population sizes along the millennia. In humans, many statistical descriptors of genome diversity form broad gradients across continents, tracing the main expansions from Africa, local migrations, and sometimes adaptation. This continuous variation is discordant across loci, and principally reflects different blends of common and often cosmopolitan alleles rather than the presence of distinct gene pools in different regions of the world. Recent studies of DNA extracted from fossils have also added nuance to this picture, raising the possibility that a fraction of modern genomes has been transmitted to us by ancestors belonging to anatomically archaic human forms, Neandertal and Denisova among them.

Current position: Professor of Genetics, University of Ferrara.

Faculty member, European School of Medical Genetics;

Coordinator, Ph.D. Programme in Evolutionary Biology and Ecology, Universities of Ferrara, Florence and Parma;

Direttore, Graduate School in Life, Health and Environmental Sciences, University of Ferrara.


Previous positions: State University of New York, Stony Brook (USA); University of Padua (Italy); Queen Mary College, University of London (UK); University of Bologna (Italy).


Scientific activity: Author (as of June 2017) of 148 peer-reviewed papers, 26 book chapters and 5 scientific books. H index = 50.


Selected publications:

Barbujani G. and Sokal R.R. (1990) Zones of sharp genetic change in Europe are also linguistic boundaries. Proceedings of the National Academy of Sciences USA 87:1816–1819.

Barbujani G., Magagni A., Minch E. and Cavalli-Sforza L.L. (1997) An apportionment of human DNA diversity. Proceedings of the National Academy of Sciences USA 94:4516–4519.

Chikhi L., Destro–Bisol G., Bertorelle G., Pascali V., and Barbujani G. (1998) Clines of nuclear DNA markers suggest a recent, Neolithic ancestry of the European gene pool. Proceedings of the National Academy of Sciences USA, 95:9053–9058

Barbujani G. and Bertorelle G. (2001) Genetics and the population history of Europe. Proceedings of the National Academy of Sciences USA 98:22–25.

Barbujani G. and Goldstein D.B. (2004) Africans and Asians abroad: Genetic diversity in Europe. Annual Review of Genomics and Human Genetics 5:119–150.

Belle E.M.S., Ramakrishnan U., Mountain J. and Barbujani G. (2006) Serial coalescent simulations suggest a weak genealogical relationship between Etruscans and modern Tuscans. Proceedings of the National Academy of Sciences USA 103:8012–8017

Ghirotto S., Mona S., Benazzo A., Paparazzo F., Caramelli D., Barbujani G. (2010) Inferring genealogical processes from patterns of Bronze–age and modern DNA variation in Sardinia. Molecular Biology and Evolution 27:775–786

Barbujani G. and Colonna V. (2010) Human genome diversity: Frequently asked questions. Trends in Genetics 26:285–295

Barbujani G., Pigliucci M. (2013) Human races. Current Biology 23:R185-R187

Reyes-Centeno H., Ghirotto S., Détroit F., Grimaud-Hervé D., Barbujani G., Harvati K. (2014) Genomic and cranial phenotype data support multiple modern human dispersals from Africa and a Southern route into Asia. Proceedings of the National Academy of Sciences USA 111:7248–7253.

de Manuel M., et al. (2016) Chimpanzee genomic diversity reveals ancient admixture with bonobos. Science 354:477-481

Will be provided during the lecture