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Genome-wide nucleosome map and cytosine methylation levels of an ancient human genome

Pedersen, Jakob Skou, Valen, Eivind, Velazquez, Amhed M. Vargas, Parker, Brian J., Rasmussen, Morten, Lindgreen, Stinus, Lilje, Berit, Tobin, Desmond J., Kelly, Theresa K., Vang, Søren, Andersson, Robin, Jones, Peter A., Hoover, Cindi A., Tikhonov, Alexei, Prokhortchouk, Egor, Rubin, Edward M., Sandelin, Albin, Gilbert, M. Thomas P., Krogh, Anders, Willerslev, Eske, Orlando, Ludovic·2014·Genome Research

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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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
Published
2013-12-03
Volume
24
Issue
3
Pages
454-466
ISSN
1088-9051
Cited by
170
References
15
Language
en

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