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      Deep-time paleogenomics and the limits of DNA survival

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          Abstract

          While most ancient DNA studies have focused on the last 50,000 years, paleogenomic approaches can now reach into the early Pleistocene, an epoch of repeated environmental changes that shaped present-day biodiversity. Emerging deep-time genomic transects, including from DNA preserved in sediments, will enable inference of adaptive evolution, discovery of unrecognized species, and exploration of how glaciations, volcanism, and paleomagnetic reversals shaped demography and community composition. In this review, we explore the state-of-the-art in paleogenomics and discuss key bottlenecks, including technical limitations, evolutionary divergence and associated biases, and the need for more precise dating of remains and sediments. We conclude that with improvements in laboratory and computational methods the emerging field of deep-time paleogenomics will expand the range of questions addressable using ancient DNA.

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          A review of research and discovery opportunities by leveraging paleogenomes from the Early and Middle Pleistocene.

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          Most cited references60

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          A Pliocene-Pleistocene stack of 57 globally distributed benthic δ18O records

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            A high-coverage genome sequence from an archaic Denisovan individual.

            We present a DNA library preparation method that has allowed us to reconstruct a high-coverage (30×) genome sequence of a Denisovan, an extinct relative of Neandertals. The quality of this genome allows a direct estimation of Denisovan heterozygosity indicating that genetic diversity in these archaic hominins was extremely low. It also allows tentative dating of the specimen on the basis of "missing evolution" in its genome, detailed measurements of Denisovan and Neandertal admixture into present-day human populations, and the generation of a near-complete catalog of genetic changes that swept to high frequency in modern humans since their divergence from Denisovans.
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              A draft sequence of the Neandertal genome.

              Neandertals, the closest evolutionary relatives of present-day humans, lived in large parts of Europe and western Asia before disappearing 30,000 years ago. We present a draft sequence of the Neandertal genome composed of more than 4 billion nucleotides from three individuals. Comparisons of the Neandertal genome to the genomes of five present-day humans from different parts of the world identify a number of genomic regions that may have been affected by positive selection in ancestral modern humans, including genes involved in metabolism and in cognitive and skeletal development. We show that Neandertals shared more genetic variants with present-day humans in Eurasia than with present-day humans in sub-Saharan Africa, suggesting that gene flow from Neandertals into the ancestors of non-Africans occurred before the divergence of Eurasian groups from each other.
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                Author and article information

                Journal
                0404511
                7473
                Science
                Science
                Science (New York, N.Y.)
                0036-8075
                1095-9203
                13 October 2023
                06 October 2023
                05 October 2023
                19 October 2023
                : 382
                : 6666
                : 48-53
                Affiliations
                [1 ]Centre for Palaeogenetics, Svante Arrhenius väg 20C, SE-10691 Stockholm, Sweden.
                [2 ]Department of Zoology, Stockholm University, SE-10691, Stockholm, Sweden.
                [3 ]Department of Bioinformatics and Genetics, Swedish Museum of Natural History, SE-10405 Stockholm, Sweden.
                [4 ]Department of Geological Sciences, Stockholm University, SE-10691, Stockholm, Sweden.
                [5 ]Department of Biomolecular Engineering, University of California Santa Cruz; Santa Cruz, California, 95064, USA.
                [6 ]Department of Ecology and Evolutionary Biology, University of California Santa Cruz; Santa Cruz, California, 95064, USA.
                [7 ]Howard Hughes Medical Institute, University of California Santa Cruz; Santa Cruz, California, 95064, USA.
                Author notes
                [†]

                All authors contributed equally to this work

                [* ]Corresponding author. bashapir@ 123456ucsc.edu
                Article
                HHMIMS1937242
                10.1126/science.adh7943
                10586222
                37797036
                02c32850-4a6f-4094-a967-c181c5b91902

                This work is licensed under a Creative Commons Attribution 4.0 International License, which allows reusers to distribute, remix, adapt, and build upon the material in any medium or format, so long as attribution is given to the creator. The license allows for commercial use.

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