Cited by 129Forensic and Genetic ResearchPleistocene-Era Hominins and ArchaeologyGenetic diversity and population structure

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Approximate Bayesian computation with deep learning supports a third archaic introgression in Asia and Oceania

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Mondal, Mayukh, Bertranpetit, Jaume, Lao, Oscar·2019·Nature Communications

DOI 10.1038/s41467-018-08089-7PMC PMC6335398

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Abstract

Since anatomically modern humans dispersed Out of Africa, the evolutionary history of Eurasian populations has been marked by introgressions from presently extinct hominins. Some of these introgressions have been identified using sequenced ancient genomes (Neanderthal and Denisova). Other introgressions have been proposed for still unidentified groups using the genetic diversity present in current human populations. We built a demographic model based on deep learning in an Approximate Bayesian Computation framework to infer the evolutionary history of Eurasian populations including past introgression events in Out of Africa populations fitting the current genetic evidence. In addition to the reported Neanderthal and Denisovan introgressions, our results support a third introgression in all Asian and Oceanian populations from an archaic population. This population is either related to the Neanderthal-Denisova clade or diverged early from the Denisova lineage. We propose the use of deep learning methods for clarifying situations with high complexity in evolutionary genomics.

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Fig. 1 Increase of Neanderthal ancestry in Asians compared to Europeans. The introgression amount is calculated by the F4 ratio test. F4 (Outgroup, Altai; Europeans, X)/F4(Outgroup, Altai; Africa, Vindjia) where Outgroup can be either Denisova or Ancestral alleles from 1000 Genome and X is either East Asian (ASN), Indian Tribal (IND) or Andamanese (AND). In the y axis to make it short we only mention F4(Outgroup, X) as the other populations remain constant for all the F4 ratio tests. In the x axis we have the amount of F4 ratio and the standard error is denoted by bars (standard error was calculated by Jackknife method using 555 blocks). The blue line signifies 0 value for F4 ratio testCC BY · PubMed Central

Fig. 2 Demographic models implemented for explaining the genetic variation present in current African (A), European (E), East Asian (Ea), Andamanese (An), Indian (I), Papuan (P) and Australian (Au) populations, in relation with Altai Neanderthal (N) and Denisovan (D) archaic populations. The process of archaic introgression in Asian populations is modelled either by different introgression events from a anatomically modern human ghost population (Xn), b, c, d known archaic populations such as N and D and or e, f, g, h by an unknown archaic extinct (Xe) population. An archaic population (Xd) introgressing to Denisovans is also modelled. Turquoise arrows indicate single pulse events of archaic introgression. All models include recent continuous migrations between African and European, European and East Asian, and Papuan and Australian populationsCC BY · PubMed Central

Fig. 3 Graphical representation of the two best supported model (Model F and Model H) with mean posterior distribution of each parameter. a Mean of the posterior distributions of each parameter calculated by means of ABC-DL in model F for Africans (A), Europeans (E), East Asians (Ea), Andamanese (An), Indians (I), Papuans (P), Aboriginal Australians (Au), Altai Neanderthal (N) and Denisovan (D). The model includes an extinct hominin population (Xe) descendent from the Denisovan population. b Mean of the posterior distributions of each parameter calculated by means of ABC-DL in model H. Xe population is an admixture between Neanderthals and Denisovans which interbreeds with Asian populations and a Homo erectus-like population (Xd) that interbreeds with Denisovan. In blue, some of the recent continuous migrations between populations which were taken into consideration in the model. In turquoise, the different introgressionsCC BY · PubMed Central

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Authors: Mondal, M., Bertranpetit, J., & Lao, O.
Affiliations: University of Tartu (EE)
Universitat Pompeu Fabra (ES)
Corresponding author: Bertranpetit, Jaume
ORCID: Mondal, Mayukh
Bertranpetit, Jaume
Lao, Oscar
Venue: Nature Communications
Publisher: Springer Science and Business Media LLC
Published: 2019-01-16
Volume: 10
Issue: 1
Pages: 246-246
ISSN: 2041-1723 (ISSN-L)
DOI: 10.1038/s41467-018-08089-7
PMC: PMC6335398
OpenAlex: W2909640254
Cited by: 124
References: 51
Citations by year: 2026: 7 · 2025: 6 · 2024: 11 · 2023: 9 · 2022: 15 · 2021: 29 · 2020: 38 · 2019: 9
FWCI: 13.59
Type: journal article
Language: en
Open access: gold
doi.org
Licence: cc-by
creativecommons.org/licenses/by/4.0 (tdm)
creativecommons.org/licenses/by/4.0 (vor)
Locations: Nature Communications (publishedVersion, cc-by)
Europe PMC (PubMed Central) (publishedVersion, other-oa)
PubMed Central (publishedVersion, cc-by)
PubMed (publishedVersion)
RECERCAT (Consorci de Serveis Universitaris de Catalunya) (publishedVersion, other-oa)
RePEc: Research Papers in Economics (submittedVersion)
DIGITAL.CSIC (Spanish National Research Council (CSIC)) (submittedVersion, cc-by)
DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Repositori digital de la UPF (Universitat Pompeu Fabra) (submittedVersion, cc-by)
Funders: Centres de Recerca de Catalunya
European Commission (2014‐2020, 2020 ‘, 2014-2020.4.01.16-0030)
Generalitat de Catalunya (GRC 2017 SGR 937, 2017-SGR, MDM-2014-0370)
Ministerio de Asuntos Económicos y Transformación Digital, Gobierno de España (RYC-2013-14797, MDM-2014-0370, BFU2015-68759-P)
Instituto de Salud Carlos III (MDM-2014-0370, 2014/2020)
European Regional Development Fund (BFU2016, 2014-2020’, 2014-2020.4.01.16-0030, MDM-2014-0370, 14797, BFU2016-77961-P)
Agencia Estatal de Investigación (MDM-2014-0370, BFU2016-77961-P)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
Social Sciences › Anthropology › Pleistocene-Era Hominins and Archaeology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
Keywords: archaic introgression, Neanderthal introgression, Denisovan introgression, approximate Bayesian computation, dispersal out of Africa, human evolution

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Approximate Bayesian computation with deep learning supports a third archaic introgression in Asia and Oceania

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