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DNA analysis of an early modern human from Tianyuan Cave, China
Open accessAbstract
Hominins with morphology similar to present-day humans appear in the fossil record across Eurasia between 40,000 and 50,000 y ago. The genetic relationships between these early modern humans and present-day human populations have not been established. We have extracted DNA from a 40,000-y-old anatomically modern human from Tianyuan Cave outside Beijing, China. Using a highly scalable hybridization enrichment strategy, we determined the DNA sequences of the mitochondrial genome, the entire nonrepetitive portion of chromosome 21 (∼30 Mbp), and over 3,000 polymorphic sites across the nuclear genome of this individual. The nuclear DNA sequences determined from this early modern human reveal that the Tianyuan individual derived from a population that was ancestral to many present-day Asians and Native Americans but postdated the divergence of Asians from Europeans. They also show that this individual carried proportions of DNA variants derived from archaic humans similar to present-day people in mainland Asia.
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“We evaluated each individual for evidence of authentic ancient DNA by limiting to libraries with a minimum of 3% cytosine-to-thymine errors at the final nucleotide29, by requiring that the ratio of X-to-Y-chromosome sequences was characteristic of either a male or a female, by requiring >95% matching to the consensus sequence of mitochondrial DNA30, and by requiring (for males) a lack of variation”
From Ancient DNA from Chalcolithic Israel reveals the role of population mixture in cultural transformation (2018) · cites this paper as [30]
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“We assessed the quality of each library at the screening stage using three standard methods for determining ancient DNA authenticity.”
From Ancient DNA from Chalcolithic Israel reveals the role of population mixture in cultural transformation (2018) · cites this paper as [30]
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“In this study, we explore two methodological strategies to recover mitochondrial genomes from ancient dromedary specimens: (i) double- or single-stranded DNA library (DSL or SSL) preparation (Meyer & Kircher 2010; Gansauge & Meyer 2013; Fortes & Paijmans 2015) followed by hybridization enrichment (Briggs et al. 2009;…”
MethodGenome of Peştera Muierii skull shows high diversity and low mutational load in pre-glacial Europe
Svensson, E., Günther, T., Hoischen, A., Hervella, M., Munters, A. R., Ioana, M. I., Ridiche, F., Edlund, H., van Deuren, R. C., Soficaru, A., et al. (2021) · Current Biology · doi:10.1016/j.cub.2021.04.045 · Cited by 32
Ancient DNA reveals pervasive directional selection across West Eurasia
Akbari, A., Perry, A., Barton, A. R., Kariminejad, M., Gazal, S., Li, Z., Zeng, Y., Mittnik, A., Patterson, N. J., Mah, M., et al. (2026) · Nature · doi:10.1038/s41586-026-10358-1 · Cited by 48
“…UDG-treated double-stranded library preparation 251,252 ; capture was automated using a Perkin Elmer EP3 or Agilent Bravo NGS Workstations 2,188,253 ) to mostly automated processing (DNA extraction 254 , double-stranded and single-stranded library preparation 255 , capture and pooling for…”
Zhoukoudian Upper Cave personal ornaments and ochre: Rediscovery and reevaluation
d’Errico, F., Martí, À. P., Wei, Y. M., Gao, X., Vanhaeren, M., & Doyon, L. (2021) · Journal of Human Evolution · doi:10.1016/j.jhevol.2021.103088 · Cited by 33
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“6 million years ago and anatomically modern humans expanding into this area around 50 thousand years ago (kya) (Fu et al., 2013; Higham, 2013; Bae et al., 2017).”
BackgroundAllelic bias when performing in‐solution enrichment of ancient human DNA
Davidson, R., Williams, M. P., Roca‐Rada, X., Kassadjikova, K., Tobler, R., Fehren‐Schmitz, L., & Llamas, B. (2023) · Molecular Ecology Resources · doi:10.1111/1755-0998.13869 · Cited by 31
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Social and genetic diversity in first farmers of central Europe
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“Amplified libraries were enriched using two rounds of consecutive hybridisation capture enrichment 1240k strategy 50,51 ).”
Ancient DNA in the Study of Ancient Disease
Stone, A. C., & Ozga, A. T. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-809738-0.00008-9 · Cited by 30
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Ancient DNA reveals the maternal genetic history of East Asian domestic pigs
Zhang, M., Liu, Y., Li, Z., Lü, P., Gardner, J. D., Ye, M., Wang, J., Yang, M., Shao, J., Wang, W., et al. (2021) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2021.11.014 · Cited by 29
Self-citationExtended longevity of DNA preservation in Levantine Paleolithic sediments, Sefunim Cave, Israel
Slon, V., Clark, J. L., Friesem, D. E., Orbach, M., Porat, N., Meyer, M., Kandel, A. W., & Shimelmitz, R. (2022) · Scientific Reports · doi:10.1038/s41598-022-17399-2 · Cited by 26
Self-citationIn-solution Y-chromosome capture-enrichment on ancient DNA libraries
Dávalos, D. I. C., Nieves-Colón, M. A., Sockell, A., Poznik, G. D., Schroeder, H., Stone, A. C., Bustamante, C. D., Malaspinas, A., & Ávila‐Arcos, M. C. (2018) · BMC Genomics · doi:10.1186/s12864-018-4945-x · Cited by 31
A Late Pleistocene human genome from Southwest China
Zhang, X., Ji, X., Li, C., Yang, T., Huang, J.-H., Zhao, Y., Wu, Y., Ma, S., Pang, Y., Huang, Y., et al. (2022) · Current Biology · doi:10.1016/j.cub.2022.06.016 · Cited by 28
Middle Holocene Siberian genomes reveal highly connected gene pools throughout North Asia
Wang, K., He, Y. H., Radzevičiūtė, R., Kiryushin, Y. F., Tishkin, A. A., Frolov, Y. V., Степанова, Н. Ф., Kiryushin, K. Y., Kungurov, A. L., Shnaider, S. V., et al. (2023) · Current Biology · doi:10.1016/j.cub.2022.11.062 · Cited by 33
Lang, P. L. M., Weiß, C. L., Kersten, S., Latorre, S. M., Nagel, S., Nickel, B., Meyer, M., & Burbano, H. A. (2020) · Molecular Ecology Resources · doi:10.1111/1755-0998.13168 · Cited by 29
“…to Suchan et al. (2016), during bait production, in - stead of employing a commercial biotinylation kit that randomly in - troduces biotinylated nucleotides into the bait sequences, we used a 5′-biotinylated primer in a linear amplification to generate bioti - nylated baits (Fu et al., 2013).”
InfluentialSelf-citationHodgkins, J., Orr, C. M., Gravel‐Miguel, C., Riel-Salvatore, J. G., Miller, C. E., Bondioli, L., Nava, A., Lugli, F., Talamo, S., Hajdinjak, M., et al. (2021) · Scientific Reports · doi:10.1038/s41598-021-02804-z · Cited by 30
Recently evolved human-specific methylated regions are enriched in schizophrenia signals
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Parallel paleogenomic transects reveal complex genetic history of early European farmersPreprint
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Re-inventing ancient human DNA
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“[26,29,40,45,46,56,71,78,83,86-96].”
Whole-Genome Capture of Ancient DNA Using Homemade Baits
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Maternal genetic structure of a neolithic population of the Yangshao culture
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Self-citationAncient human genomics: the methodology behind reconstructing evolutionary pathways
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Phenotypes from ancient DNA : Approaches, insights and prospects
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“03% [58].”
Carriers of human mitochondrial DNA macrohaplogroup M colonized India from southeastern Asia
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“Ancient DNA analysis of a morphologically early modern human from Tianyuan cave in northeast China [126] and a modern human from western Siberia of 45 ky old [127] evidenced that both were bearers of B and U mtDNA lineages respectively.”
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“We evaluated the contamination rate using the ContamMix software and compared the mtDNA fragments with the consensus mitochondrial genome for our newly sampled individuals and 311 present-day world-wide sequences (Fu et al., 2013).”
MethodSelf-citationAncient Yersinia pestis and Salmonella enterica genomes from Bronze Age Crete
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Fine-scale sampling uncovers the complexity of migrations in 5th–6th century Pannonia
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“…number of prehistoric populations in China (Ancient DNA Laboratory 2001; Gao et al. 2007; Li et al. 2007; Zhang et al. 2010; Cui et al. 2013a; Fu et al. 2013), how or whether ancient communities changed in kinship organization and postmarital residence in diffferent regions within China…”
BackgroundAncient genomes reveal a deep history of Treponema pallidum in the Americas
Barquera, R., Sitter, T. L., Kirkpatrick, C. L., Ramírez, D. A., Kocher, A., Spyrou, M. A., Couoh, L. R., Talavera-González, J. A., Castro, M., von Hunnius, T. E., et al. (2024) · Nature · doi:10.1038/s41586-024-08515-5 · Cited by 33
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“Galeta et al. (2011) used three demographic models to test the idea of nearly complete replacement of indigenous Central European foragers by “invading” Neolithic farmers and found that such a result required unreasonably high levels of fertility, female survivorship, and population growth among…”
MethodPopulation distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649)
Knappskog, S., Gansmo, L. B., Dibirova, K., Metspalu, A., Cybulski, C., Peterlongo, P., Aaltonen, L. A., VATTEN, L. J., Romundstad, P., Hveem, K., et al. (2014) · Oncotarget · doi:10.18632/oncotarget.1910 · Cited by 24
“Calculations based on nuclear DNA divergence has estimated the separation between the European and Asian population to have occurred around 23,000 (CI: 17,000 - 40,000) years ago, [17], while calculations based on mitochondrial DNA divergence have estimated this event to take place approximately 40,000 years ago [29].”
BackgroundBailey, S., Mao, X., Struebig, M., Tsagkogeorga, G., Csorba, G., Heaney, L. R., Sedlock, J. L., Stanley, W. T., Rouillard, J. M., & Rossiter, S. J. (2015) · Biological Journal of the Linnean Society · doi:10.1111/bij.12620 · Cited by 25
Di, D., Sanchez‐Mazas, A., & Currat, M. (2015) · BMC Evolutionary Biology · doi:10.1186/s12862-015-0512-0 · Cited by 24
“…originating from the two migration routes would be, to some extent, reflected by the recent analyses of ancient human DNA from Tianyuan Cave (~40 kya) in northern China [67], on one side, and from Mal ’ ta (~24 kya) and Afontova Gora-2 (~17 kya) in Southern Siberia [68], on the other side (Fig.”
BackgroundDirect radiocarbon dating and DNA analysis of the Darra-i-Kur (Afghanistan) human temporal bone
Douka, K., Slon, V., Stringer, C. B., Potts, R., Hübner, A., Meyer, M., Spoor, F., Pääbo, S., & Higham, T. (2017) · Journal of Human Evolution · doi:10.1016/j.jhevol.2017.03.003 · Cited by 23
Self-citation
Metadata
- Authors
- Fu, Q., Meyer, M., Gao, X., Stenzel, U., Burbano, H. A., Kelso, J., & Pääbo, S.
- Affiliations
- Max Planck Society (DE)
- Max Planck Institute for Evolutionary Anthropology (DE)
- Max Planck Institute for Developmental Biology (DE)
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2013-01-22
- Volume
- 110
- Issue
- 6
- Pages
- 2223-2227
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC3568306
- OpenAlex
- W2149683346
- Cited by
- 608
- References
- 47
- Citations by year
- 2026: 27 · 2025: 52 · 2024: 45 · 2023: 45 · 2022: 45 · 2021: 78 · 2020: 64 · 2019: 35 · 2018: 49 · 2017: 43 · 2016: 38 · 2015: 35 · 2014: 34 · 2013: 17
- FWCI
- 27.40
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Digital Commons - University of South Florida (University of South Florida) (submittedVersion)
- MPG.PuRe (Max Planck Society) (submittedVersion)
- 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
- early modern humans, ancient DNA, mitochondrial genome, nuclear genome, chromosome 21, archaic admixture, Asian ancestry, Native American ancestry
- MeSH terms
- Animals, Base Sequence, China, Chromosomes, Human, Pair 21, DNA, Mitochondrial, Fossils, Genetics, Population, Humans, Molecular Sequence Data, Phylogeny, Sequence Homology, Nucleic Acid, Hominidae, Gene Library, Sequence Analysis, DNA, Asian People, History, Ancient, Phylogeography
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