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Genome-wide nucleosome map and cytosine methylation levels of an ancient human genome
Abstract
Epigenetic information is available from contemporary organisms, but is difficult to track back in evolutionary time. Here, we show that genome-wide epigenetic information can be gathered directly from next-generation sequence reads of DNA isolated from ancient remains. Using the genome sequence data generated from hair shafts of a 4000-yr-old Paleo-Eskimo belonging to the Saqqaq culture, we generate the first ancient nucleosome map coupled with a genome-wide survey of cytosine methylation levels. The validity of both nucleosome map and methylation levels were confirmed by the recovery of the expected signals at promoter regions, exon/intron boundaries, and CTCF sites. The top-scoring nucleosome calls revealed distinct DNA positioning biases, attesting to nucleotide-level accuracy. The ancient methylation levels exhibited high conservation over time, clustering closely with modern hair tissues. Using ancient methylation information, we estimated the age at death of the Saqqaq individual and illustrate how epigenetic information can be used to infer ancient gene expression. Similar epigenetic signatures were found in other fossil material, such as 110,000- to 130,000-yr-old bones, supporting the contention that ancient epigenomic information can be reconstructed from a deep past. Our findings lay the foundation for extracting epigenomic information from ancient samples, allowing shifts in epialleles to be tracked through evolutionary time, as well as providing an original window into modern epigenomics.
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The second category of methods for ancient DNA methylation analysis relies on indirect statistical inference based on patterns of post-mortem DNA decay that are ubiquitous in plants and animals.
“The second category of methods for ancient DNA methylation analysis relies on indirect statistical inference based on patterns of post-mortem DNA decay that are ubiquitous in plants 246 and animals 28,29 .”
From Ancient DNA analysis (2021) · cites this paper as [29]
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Cites
DNA methylation patterns and epigenetic memory
Bird, A. (2002) · Genes & Development · doi:10.1101/gad.947102 · Cited by 7,124
Genome-scale DNA methylation maps of pluripotent and differentiated cells
Meissner, A., Mikkelsen, T. S., Gu, H., Wernig, M., Hanna, J., Sivachenko, A., Zhang, X., Bernstein, B. E., Nusbaum, C., Jaffe, D. B., et al. (2008) · Nature · doi:10.1038/nature07107 · Cited by 2,536
Genetic history of an archaic hominin group from Denisova Cave in Siberia
Reich, D., Green, R. E., Kircher, M., Krause, J., Patterson, N., Durand, E. Y., Viola, B., Briggs, A. W., Stenzel, U., Johnson, P. L. F., et al. (2010) · Nature · doi:10.1038/nature09710 · Cited by 1,991
A high-coverage genome sequence from an archaic denisovan individual
Meyer, M., Kircher, M., Gansauge, M.-T., Li, H., Racimo, F., Mallick, S., Schraiber, J. G., Jay, F., Prüfer, K., de Filippo, C., et al. (2012) · Science · doi:10.1126/science.1224344 · Cited by 1,967
Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans
Raghavan, M., Skoglund, P., Graf, K. E., Metspalu, M., Albrechtsen, A., Moltke, I., Rasmussen, S., Stafford Jr, T. W., Orlando, L., Metspalu, E., et al. (2014) · Nature · doi:10.1038/nature12736 · Cited by 963
Self-citationAncient human genome sequence of an extinct Palaeo-Eskimo
Rasmussen, M., Li, Y., Lindgreen, S., Pedersen, J. S., Albrechtsen, A., Moltke, I., Metspalu, M., Metspalu, E., Kivisild, T., Gupta, R., et al. (2010) · Nature · doi:10.1038/nature08835 · Cited by 849
Self-citationAn aboriginal Australian genome reveals separate human dispersals into Asia
Rasmussen, M., Guo, X., Wang, Y., Lohmueller, K. E., Rasmussen, S., Albrechtsen, A., Skotte, L., Lindgreen, S., Metspalu, M., Jombart, T., et al. (2011) · Science · doi:10.1126/science.1211177 · Cited by 787
Self-citationInitial Genetic Characterization of the 1918 “Spanish” Influenza Virus
Taubenberger, J. K., Reid, A. H., Krafft, A. E., Bijwaard, K. E., & Fanning, T. G. (1997) · Science · doi:10.1126/science.275.5307.1793 · Cited by 715
Hofreiter, M. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.23.4793 · Cited by 684
Sequencing and analysis of Neanderthal genomic DNA
Noonan, J. P., Coop, G., Kudaravalli, S., Smith, D., Krause, J., Alessi, J., Chen, F., Platt, D., Pääbo, S., Pritchard, J. K., et al. (2006) · Science · doi:10.1126/science.1131412 · Cited by 629
Self-citationDNA analysis of an early modern human from Tianyuan Cave, China
Fu, Q., Meyer, M., Gao, X., Stenzel, U., Burbano, H. A., Kelso, J., & Pääbo, S. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1221359110 · Cited by 608
Orphan CpG Islands Identify Numerous Conserved Promoters in the Mammalian Genome
Illingworth, R. S., Gruenewald-Schneider, U., Webb, S., Kerr, A. R. W., James, K. D., Turner, D. J., Smith, C., Harrison, D. J., Andrews, R., & Bird, A. P. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001134 · Cited by 550
New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing
Keller, A., Graefen, A., Ball, M., Matzas, M., Boisguerin, V., Maixner, F., Leidinger, P., Backes, C., Khairat, R., Forster, M., et al. (2012) · Nature Communications · doi:10.1038/ncomms1701 · Cited by 437
mapDamage: testing for damage patterns in ancient DNA sequences
Ginolhac, A., Rasmussen, M., Gilbert, M. T. P., Willerslev, E., & Orlando, L. (2011) · Bioinformatics · doi:10.1093/bioinformatics/btr347 · Cited by 363
Self-citationCampos, P. F., Willerslev, E., Sher, A., Orlando, L., Axelsson, E., Tikhonov, A., Aaris-Sørensen, K., Greenwood, A. D., Kahlke, R.-D., Kosintsev, P., et al. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0907189107 · Cited by 239
Self-citation
Flagged first, then by citations
Research works printed but not linked: 72
- 10.1101/gr.125187.111 · DOI
- 10.1371/journal.pone.0011217 · DOI
- 10.1038/nbt.1533 · DOI
- 10.1016/j.diff.2009.06.004 · DOI
- 10.1126/science.291.5503.447 · DOI
- 10.1093/nar/gks001 · DOI · Paper page
- 10.1038/nature10549 · DOI · Paper page
- 10.1038/sj.jid.5700007 · DOI
- 10.2217/epi.13.5 · DOI
- 10.1371/journal.pone.0014524 · DOI
- 10.1073/pnas.0704665104 · DOI · Paper page
- 10.1093/nar/gkp1163 · DOI · Paper page
- 10.1038/nature11142 · DOI
- 10.1073/pnas.95.15.8544 · DOI
- 10.1021/pr200721u · DOI
- 10.1371/journal.pone.0015754 · DOI
- 10.1371/journal.pone.0010933 · DOI
- 10.1038/35055536 · DOI
- 2012, Length and GC-biases during sequencing library amplification: A comparison of various polymerase-buffer systems with ancient and modern DNA sequencing libraries, Biotechniques, 52, 87, 10.2144/000113809 · DOI · Paper page
- 10.1101/gad.2037511 · DOI · Paper page
- 10.1101/gr.5636607 · DOI
- 1997, Internucleosomal DNA cleavage triggered by plasma membrane damage during necrotic cell death. Involvement of serine but not cysteine proteases, Am J Pathol, 151, 1205
- 10.1093/nar/gkq742 · DOI
- 10.1371/journal.pgen.1000138 · DOI
- 10.1371/journal.pgen.1003036 · DOI
- 10.1371/journal.pone.0024161 · DOI
- 10.1016/j.tree.2005.07.005 · DOI · Paper page
- 10.1016/j.molcel.2011.12.023 · DOI
- 10.1126/science.1188021 · DOI · Paper page
- 10.1038/ng.857 · DOI
- 10.1038/312282a0 · DOI
- 10.1101/gr.091678.109 · DOI
- 10.1038/nprot.2008.211 · DOI · Paper page
- 10.1101/gr.116228.110 · DOI
- 10.1371/journal.pone.0067378 · DOI
- 10.1101/gr.143008.112 · DOI · Paper page
- 2011, Targeted high throughput sequencing in clinical cancer settings: Formaldehyde fixed-paraffin embedded (FFPE) tumor tissues, input amount and tumor heterogeneity, BMC Med Genet, 4, 68
- 2006, Gene expression in head hair follicles plucked from men and women, Ann Clin Lab Sci Spring, 36, 115
- 2011, Epigenetic-aging-signature to determine age in different tissues, Aging, 3, 1018, 10.18632/aging.100395 · DOI
- 10.1080/07391102.2006.10507097 · DOI
- 10.1038/nature04432 · DOI
- 10.1016/j.cub.2009.11.068 · DOI · Paper page
- 10.1038/nmeth.1828 · DOI
- 10.1038/jid.2009.192 · DOI · Paper page
- 10.1101/gr.101907.109 · DOI
- 10.1074/mcp.M500278-MCP200 · DOI
- 10.1093/bioinformatics/btp324 · DOI · Paper page
- 10.1101/gr.083451.108 · DOI
- 10.1371/journal.pone.0030226 · DOI · Paper page
- 10.1038/nature10574 · DOI · Paper page
- 10.1038/ncomms3172 · DOI
- 10.1038/nature07446 · DOI
- 10.1073/pnas.1210506109 · DOI · Paper page
- 10.1007/s00418-008-0435-6 · DOI · Paper page
- 10.1038/34112 · DOI
- 10.1126/science.1113485 · DOI
- 10.1016/S1055-7903(03)00023-X · DOI
- 10.1038/nature12323 · DOI · Paper page
- 10.1038/nbt1279 · DOI
- 10.1073/pnas.86.6.1939 · DOI
- 10.1016/j.bpj.2012.03.056 · DOI
- 10.1093/nar/gkp727 · DOI
- 10.1016/j.cell.2008.02.022 · DOI
- 10.1126/science.1238286 · DOI · Paper page
- 10.1038/nature04979 · DOI
- 10.1126/science.1101074 · DOI
- 10.1186/1756-8935-6-26 · DOI
- 10.1038/nsmb.1594 · DOI
- 10.1038/nsmb.2506 · DOI
- 2011, Age-dependent DNA methylation of genes that are suppressed in stem cells is a hallmark of cancer, Genome Res, 20, 440
- 10.1038/nature10002 · DOI
- 10.7554/eLife.00731 · DOI
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Self-citationOrlando, L., Allaby, R., Skoglund, P., Der Sarkissian, C., Stockhammer, P. W., Ávila-Arcos, M. C., Fu, Q., Krause, J., Willerslev, E., Stone, A. C., et al. (2021) · Nature Reviews Methods Primers · doi:10.1038/s43586-020-00011-0 · Cited by 411
Self-citationPrehistoric genomes reveal the genetic foundation and cost of horse domestication
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Self-citationJoint estimates of heterozygosity and runs of homozygosity for modern and ancient samples
Renaud, G., Hanghøj, K., Korneliussen, T. S., Willerslev, E., & Orlando, L. (2019) · Genetics · doi:10.1534/genetics.119.302057 · Cited by 101
Self-citationHuman evolution: a tale from ancient genomes
Llamas, B., Willerslev, E., & Orlando, L. (2017) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2015.0484 · Cited by 100
Self-citationThe cis-regulatory effects of modern human-specific variants
Weiss, C. V., Harshman, L., Inoue, F., Fraser, H. B., Petrov, D. A., Ahituv, N., & Gokhman, D. (2021) · eLife · doi:10.7554/elife.63713 · Cited by 70
Assessing DNA sequence alignment methods for characterizing ancient genomes and methylomes
Poullet, M., & Orlando, L. (2020) · Frontiers in Ecology and Evolution · doi:10.3389/fevo.2020.00105 · Cited by 61
Self-citationUnravelling reference bias in ancient DNA datasets
Dolenz, S., van der Valk, T., Jin, C., Oppenheimer, J., Sharif, M. B., Orlando, L., Shapiro, B., Dalén, L., & Heintzman, P. D. (2024) · Bioinformatics · doi:10.1093/bioinformatics/btae436 · Cited by 33
“In this particular example, a � 10 bp periodicity is also observed in the fragment length distribution, consistent with DNA fragmentation in the presence of histone-DNA complexes (Pedersen et al. 2014).”
BackgroundSelf-citation
Metadata
- Authors
- Pedersen, J. S., Valen, E., Velazquez, A. M. V., Parker, B. J., Rasmussen, M., Lindgreen, S., Lilje, B., Tobin, D. J., Kelly, T. K., Vang, S., Andersson, R., Jones, P. A., Hoover, C. A., Tikhonov, A., Prokhortchouk, E., Rubin, E. M., Sandelin, A., Gilbert, M. T. P., Krogh, A., Willerslev, E., & Orlando, L.
- Venue
- Genome Research
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 2013-12-03
- Volume
- 24
- Issue
- 3
- Pages
- 454-466
- ISSN
- 1088-9051
- PMC
- PMC3941110
- Cited by
- 170
- References
- 15
- Language
- en
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