A brief history of palaeogenomics: How a young discipline revolutionised the study of the past

Carles Lalueza-Fox


In only a few short years, the ancient DNA field has transformed from an anecdotal and artisanal discipline into one of the most dynamic current scientific fields, generating massive genomic data from hundreds of past individuals. These include extinct hominins such as Neanderthals and Denisovans and prehistoric humans, and have provided information about the recent settlement of the continents. The field of palaeogenomics gives direct space and time information about the adaptive and demographic aspects of human populations and reveals complex patterns of past migrations that can help us to understand our current diversity. The development of this discipline is a unique opportunity to establish partnerships with archaeologists and anthropologists and to build up a multidisciplinary approach to the study of the past.


human evolution; Neanderthals; genomics; prehistory

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DOI: https://doi.org/10.7203/metode.8.9226


Cooper, A., Lalueza-Fox, C., Anderson, S., Rambaut, A., Austin, J., & Ward, R. (2001). Complete mitochondrial genome sequences of two extinct moas clarify ratite evolution. Nature, 409, 704–707. doi: 10.1038/35055536

Cooper, A., & Poinar, H. N. (2000). Ancient DNA: Do it right or not at all. Science, 289, 1139. doi: 10.1126/science.289.5482.1139b 

Fu, Q., Posth, C., Hajdinjak, M., Petr, M., Mallick, S., Fernandes, D., ... Reich, D. (2016). The genetic history of Ice Age Europe. Nature, 534, 200–205. doi: 10.1038/nature17993

Green, R. E., Krause, J., Briggs, A. W., Maricic, T., Stenzel, U., Kircher, M., ... Pääbo, S. (2010). A draft sequence of the Neandertal genome. Science, 328, 710–722. doi: 10.1126/science.1188021 

Haak, W., Lazaridis, I., Patterson, N., Rohland, N., Mallick, S., Llamas, B., ... Reich, D. (2015). Massive migration from the steppe was a source for Indo-European languages in Europe. Nature, 522, 207–211. doi: 10.1038/nature14317

Higuchi, R., Bowman, B., Freiberger, M., Ryder, O. A., & Wilson, A. C. (1984). DNA sequences from the quagga, an extinct member of the horse family. Nature, 312, 282–284. doi: 10.1038/312282a0

Hofreiter, M., Serre, D., Poinar, H. N., Kuch, M., & Pääbo, S. (2001). Ancient DNA. Nature Reviews Genetics, 2, 353–359. doi: 10.1038/35072071

Krings, M., Stone, A., Schmitz, R. W., Krainitzki, H., Stoneking, M., & Pääbo, S. (1997). Neandertal DNA sequences and the origin of modern humans. Cell, 90, 19–30. doi: 10.1016/S0092-8674(00)80310-4

Lalueza-Fox, C., Römpler, H., Caramelli, D., Stäubert, C., Catalano, G., Hughes, D., ... Hofreiter, M. (2007). A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals. Science, 318, 1453–1455. doi: 10.1126/science.1147417

Lazaridis, I., Patterson, N., Mittnik, A., Renaud, G., Mallick, S.,  Kirsanow, K., ... Krause, J. (2014). Ancient human genomes suggest three ancestral populations for present-day Europeans. Nature, 513, 409–413. doi: 10.1038/nature13673

Meyer, M., Arsuaga, J. L., De Filippo, C., Nagel, S., Aximu-Petri, A., Nickel, B., ... Pääbo, S. (2016). Nuclear DNA sequences from the Middle Pleistocene Sima de los Huesos hominins. Nature, 531, 504–507. doi: 10.1038/nature17405

Meyer, M., Fu, Q., Aximu-Petri, A., Glocke, I., Nickel, B., Arsuaga, J. L., ... Pääbo, S. (2014). A mitochondrial genome sequence of a hominin from Sima de los Huesos. Nature, 505, 403–406. doi: 10.1038/nature12788

Olalde, I., Allentoft, M. E., Sánchez-Quinto, F., Santpere, G., Chiang, C. W. K., DeGiorgio, M., ... Lalueza-Fox, C. (2014). Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European. Nature, 507, 225–228. doi: 10.1038/nature12960

Pääbo, S. (1985). Molecular cloning of Ancient Egyptian mummy DNA. Nature, 314, 644–645. doi: 10.1038/314644a0

Rasmussen, M., Li, Y., Lindgreen, S., Pedersen, J. S., Albrechtsen, A., Molt­ke, I., ... Willerslev, E. (2010). Ancient human genome sequence of an extinct Palaeo-Eskimo. Nature, 463, 757–762. doi: 10.1038/nature08835

Reich, D., Green, R. E., Kircher, M., Krause, J., Patterson, N., Durand, E. Y., ... Pääbo, S. (2010). Genetic history of an archaic hominin group from Denisova Cave in Siberia. Nature, 468, 1053–1060. doi: 10.1038/nature09710


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