Influence of Admixture and Paleolithic Range Contractions on Current European Diversity Gradients
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Cavalli-Sforza and Edwards (Analysis of human evolution. 1963. In: Geerts SJ, editor. Genetics today: Proceedings of the 11th International Congress of Genetics, The Hague, The Netherlands. New York: Pergamon. p. 923-993.) initiated the representation of genetic relationships among human populations with principal component (PC) analysis (PCA). Their study revealed the presence of a southeast-northwest (SE-NW) gradient of genetic variation in current European populations, which was interpreted as the result of the demic diffusion of early neolithic farmers during their expansion from the near east. However, this interpretation has been questioned, as PCA gradients can occur even when there is no expansion and because the first PC axis is often orthogonal to the expansion axis. Here, we revisit PCA patterns obtained under realistic scenarios of the settlement of Europe, focusing on the effects of various levels of admixture between paleolithic and neolithic populations, and of range contractions during the last glacial maximum (LGM). Using extensive simulations, we find that the first PC (PC1) gradients are orthogonal to the expansion axis, but only when the expansion is recent (neolithic). More ancient (paleolithic) expansions alter the orientation of the PC1 gradient due to a spatial homogenization of genetic diversity over time, and to the exact location of LGM refugia from which re-expansions proceeded. Overall we find that PC1 gradients consistently follow an SE-NW orientation if there is a large paleolithic contribution to the current European gene pool, and if the main refuge area during the last ice age was in the Iberian Peninsula. Our study suggests that an SE-NW PC1 gradient is compatible with little genetic impact of neolithic populations on the current European gene pool, and that range contractions have affected observed genetic patterns.
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Different events of population contractions and expansions during the Paleolithic related to the Last Glacial Maximum could have affected the latitudinal gradient more than the one seen for longitude.
“Different events of population contractions and expansions during the Paleolithic related to the LGM (45, 46) could have affected the latitudinal gradient more than the one seen for longitude.”
From Past human expansions shaped the spatial pattern of Neanderthal ancestry (2023) · cites this paper as [45]
The Introduction reports that Paleolithic range contractions and re-expansions around the LGM can substantially change the orientation of simulated European genetic gradients. It does not establish that the latitudinal gradient was affected more than the longitudinal one; the reported orientation depends on the location of the refugium and requires a large Paleolithic contribution. (LLM, conf=0.85)
Experimental — accuracy not yet measuredThe sole observation of a southeast to northwest genetic cline in Europe is not informative about the expansion of farmers, as the cline could have been generated during the previous hunter-gatherer expansion.
“As previously noted (45, 46), the sole observation of a south east to north west genetic cline in Europe is not informative about the expansion of FAs, as the cline could have been generated during the previous HG expansion.”
From Past human expansions shaped the spatial pattern of Neanderthal ancestry (2023) · cites this paper as [45]
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Cites
Gentleman R: R: A language for data analysis and graphics
Ihaka, R., & Gentleman, R. (1996) · Journal of Computational and Graphical Statistics · doi:10.1080/10618600.1996.10474713 · Cited by 11,747 · see citing works
Population Structure and Eigenanalysis
Patterson, N., Price, A. L., & Reich, D. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020190 · Cited by 5,280 · see citing works
The History and Geography of Human Genes
Cavalli-Sforza, L. L., Menozzi, P., & Piazza, A. (2018) · Princeton University Press eBooks · doi:10.2307/j.ctv301gjp · Cited by 3,175 · see citing works
Kimura, M., & Weiss, G. H. (1964) · Genetics · doi:10.1093/genetics/49.4.561 · Cited by 1,744 · see citing works
History and Geography of Human Genes
Piazza, A. (1994) · Advances in forensic haemogenetics · doi:10.1007/978-3-642-78782-9_1 · Cited by 1,639 · see citing works
The history and geography of human genes
Cann, R. L. (1995) · Choice Reviews Online · doi:10.5860/choice.33-0316 · Cited by 1,328 · see citing works
Farmers and Their Languages: The First Expansions
Diamond, J., & Bellwood, P. (2003) · Science · doi:10.1126/science.1078208 · Cited by 1,054 · see citing works
The Neolithic Transition and the Genetics of Populations in Europe
Ammerman, A. J., & Cavalli-Sforza, L. L. (1984) · Princeton University Press eBooks · doi:10.1515/9781400853113 · Cited by 981 · see citing works
Tracing European Founder Lineages in the Near Eastern mtDNA Pool
Richards, M. B., Macaulay, V. A., Hickey, E., Vega, E., Sykes, B. C., Guida, V., Rengo, C., Sellitto, D., Cruciani, F., Kivisild, T., et al. (2000) · The American Journal of Human Genetics · doi:10.1016/s0002-9297(07)62954-1 · Cited by 957 · see citing works
Genotype, haplotype and copy-number variation in worldwide human populations
Jakobsson, M., Scholz, S. W., Scheet, P. A., Gibbs, J. R., Canzoniero, J. V., Fung, H., Szpiech, Z. A., Degnan, J. H., Wang, K., Guerreiro, R. J., et al. (2008) · Nature · doi:10.1038/nature06742 · Cited by 871 · see citing works
THE HIDDEN SIDE OF INVASIONS: MASSIVE INTROGRESSION BY LOCAL GENES
Currat, M., Ruedi, M., Petit, R. J., & Excoffier, L. (2008) · Evolution · doi:10.1111/j.1558-5646.2008.00413.x · Cited by 816 · see citing works
Self-citationThe Neolithic Transition and the Genetics of Populations in Europe.
Roberts, D. F., Ammerman, A. J., & Cavalli-Sforza, L. L. (1986) · Man · doi:10.2307/2803105 · Cited by 769 · see citing works
Genetic drift at expanding frontiers promotes gene segregation
Hallatschek, O., Hersen, P., Ramanathan, S., & Nelson, D. R. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0710150104 · Cited by 712 · see citing works
Surfing during population expansions promotes genetic revolutions and structuration
Excoffier, L., & Ray, N. (2008) · Trends in Ecology & Evolution · doi:10.1016/j.tree.2008.04.004 · Cited by 671 · see citing works
Self-citationInterpreting principal component analyses of spatial population genetic variation
Novembre, J., & Stephens, M. (2008) · Nature Genetics · doi:10.1038/ng.139 · Cited by 663 · see citing works
The Fate of Mutations Surfing on the Wave of a Range Expansion
Klopfstein, S., Currat, M., & Excoffier, L. (2006) · Molecular Biology and Evolution · doi:10.1093/molbev/msj057 · Cited by 641 · see citing works
Self-citationSynthetic Maps of Human Gene Frequencies in Europeans
Menozzi, P., Piazza, A., & Cavalli-Sforza, L. L. (1978) · Science · doi:10.1126/science.356262 · Cited by 639 · see citing works
When the World’s Population Took Off: The Springboard of the Neolithic Demographic Transition
Bocquet‐Appel, J. (2011) · Science · doi:10.1126/science.1208880 · Cited by 554 · see citing works
Correlation between Genetic and Geographic Structure in Europe
Lao, O., Lu, T. T., Nothnagel, M., Junge, O., Freitag-Wolf, S., Caliebe, A., Balascakova, M., Bertranpetit, J., Bindoff, L. A., Comas, D., et al. (2008) · Current Biology · doi:10.1016/j.cub.2008.07.049 · Cited by 503 · see citing works
Mutations arising in the wave front of an expanding population
Edmonds, C. A., Lillie, A. S., & Cavalli-Sforza, L. L. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0308064100 · Cited by 429 · see citing works
Tracing the Origin and Spread of Agriculture in Europe
Pinhasi, R., Fort, J., & Ammerman, A. J. (2005) · PLoS Biology · doi:10.1371/journal.pbio.0030410 · Cited by 409 · see citing works
Genetic evidence for the spread of agriculture in Europe by demic diffusion
Sokal, R. R., Oden, N. L., & Wilson, C. (1991) · Nature · doi:10.1038/351143a0 · Cited by 297 · see citing works
Nelson, M. R., Bryc, K., King, K. S., Indap, A., Boyko, A. R., Novembre, J., Briley, L. P., Maruyama, Y., Waterworth, D. M., Waeber, G., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.08.005 · Cited by 293 · see citing works
Shennan, S. J., & Edinborough, K. (2006) · Journal of Archaeological Science · doi:10.1016/j.jas.2006.10.031 · Cited by 263 · see citing works
Consequences of Range Contractions and Range Shifts on Molecular Diversity
Arenas, M., Ray, N., Currat, M., & Excoffier, L. (2012) · Molecular Biology and Evolution · doi:10.1093/molbev/msr187 · Cited by 236 · see citing works
Self-citationHigh-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugiumPreprint
Pereira, L., Richards, M. B., Goios, A., et al. (2005) · Genome Research · doi:10.1101/gr.3182305 · Cited by 167 · see citing works
Clines of nuclear DNA markers suggest a largely Neolithic ancestry of the European gene pool
Chikhi, L., Destro‐Bisol, G., Bertorelle, G., Pascali, V. L., & Barbujani, G. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.15.9053 · Cited by 163 · see citing works
Principal Component Analysis under Population Genetic Models of Range Expansion and Admixture
François, O., Currat, M., Ray, N., Han, E., Excoffier, L., & Novembre, J. (2010) · Molecular Biology and Evolution · doi:10.1093/molbev/msq010 · Cited by 149 · see citing works
Self-citationGenetics and the population history of Europe
Barbujani, G., & Bertorelle, G. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.98.1.22 · Cited by 147 · see citing works
Ray, N., Currat, M., Foll, M., & Excoffier, L. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq579 · Cited by 124 · see citing works
Self-citationGenetics and the origin of European languages.
Piazza, A., Rendine, S., Minch, E., Menozzi, P., Mountain, J. L., & Cavalli-Sforza, L. L. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.13.5836 · Cited by 86 · see citing works
Perspectives on Human Population Structure at the Cusp of the Sequencing Era
Novembre, J., & Ramachandran, S. (2011) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-090810-183123 · Cited by 86 · see citing works
Southwestern Europe at the Last Glacial Maximum
Straus, L. G. (1991) · Current Anthropology · doi:10.1086/203940 · Cited by 69 · see citing works
The earliest modern humans in Europe
Mellars, P. (2011) · Nature · doi:10.1038/479483a · Cited by 66 · see citing works
DNAs from the European Neolithic
Barbujani, G., & Chikhi, L. (2006) · Heredity · doi:10.1038/sj.hdy.6800852 · Cited by 28 · see citing works
Response to Cavalli-Sforza Interview [Human Biology 82(3):245–266 (June 2010)]
Novembre, J., & Stephens, M. (2010) · Human Biology · doi:10.3378/027.082.0408 · Cited by 7 · see citing works
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Research works printed but not linked: 1
- Cavalli-Sforza LL, Edwards AWF. 1963. Analysis of human evolution. In: Geerts SJ, editor. Genetics today: proceedings of the 11th interna- tional congress of genetics, The Hague, The Netherlands. New York: Pergamon. p. 923-993.
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Currat, M., Arenas, M., Quilodràn, C. S., Excoffier, L., & Ray, N. (2019) · Bioinformatics · doi:10.1093/bioinformatics/btz311 · Cited by 47 · see citing works
Self-citationPast human expansions shaped the spatial pattern of Neanderthal ancestry
Quilodrán, C. S., Rio, J., Tsoupas, A., & Currat, M. (2023) · Science Advances · doi:10.1126/sciadv.adg9817 · Cited by 12 · see citing works
Self-citationSilva, N. M., Rio, J., Kreutzer, S., Papageorgopoulou, C., & Currat, M. (2018) · Evolutionary Applications · doi:10.1111/eva.12655 · Cited by 11 · see citing works
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- Authors
- Arenas, M., François, O., Currat, M., Ray, N., & Excoffier, L.
- Affiliations
- University of Bern (CH)
- Centre National de la Recherche Scientifique (FR)
- University of Geneva (CH)
- Corresponding author
- Arenas, Miguel
- Venue
- Molecular Biology and Evolution
- Publisher
- Oxford University Press (OUP)
- Published
- 2012-08-25
- Volume
- 30
- Issue
- 1
- Pages
- 57-61
- ISSN
- 0737-4038 (ISSN-L)
- 1537-1719
- OpenAlex
- W2109073016
- Cited by
- 50
- References
- 36
- Citations by year
- 2023: 1 · 2022: 4 · 2021: 3 · 2020: 4 · 2019: 4 · 2018: 6 · 2017: 2 · 2016: 3 · 2015: 7 · 2014: 5 · 2013: 9 · 2012: 2
- FWCI
- 4.43
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Molecular Biology and Evolution (publishedVersion)
- PubMed (publishedVersion)
- Archive ouverte UNIGE (University of Geneva) (publishedVersion, other-oa)
- HAL (submittedVersion)
- Bern Open Repository and Information System (University of Bern) (submittedVersion)
- Archive ouverte UNIGE (University of Geneva) (submittedVersion, cc-by)
- Funders
- National Science Foundation
- European Commission (226852)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Social Sciences › Anthropology › Pleistocene-Era Hominins and Archaeology
- Keywords
- principal component analysis, range contraction, Last Glacial Maximum refugia
- MeSH terms
- Alleles, Ethnicity, Europe, Biological Evolution, Gene Frequency, Gene Pool, Humans, Middle East, Genetic Variation, Principal Component Analysis, White People
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