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Three-dimensional genome architecture persists in a 52,000-year-old woolly mammoth skin sample
Stockholm University, Faculty of Science, Department of Zoology. Centre for Palaeogenetics, Sweden; Swedish Museum of Natural History, Sweden.ORCID iD: 0000-0002-4640-8306
Stockholm University, Faculty of Science, Department of Ecology, Environment and Plant Sciences. Stockholm University, Faculty of Science, Department of Zoology, Animal Ecology. Centre for Palaeogenetics, Sweden; Swedish Museum of Natural History, Sweden.ORCID iD: 0000-0001-6307-8188
Number of Authors: 562024 (English)In: Cell, ISSN 0092-8674, E-ISSN 1097-4172, Vol. 187, no 14, p. P3541-3562.e51Article in journal (Refereed) Published
Abstract [en]

Analyses of ancient DNA typically involve sequencing the surviving short oligonucleotides and aligning to genome assemblies from related, modern species. Here, we report that skin from a female woolly mammoth (†Mammuthus primigenius) that died 52,000 years ago retained its ancient genome architecture. We use PaleoHi-C to map chromatin contacts and assemble its genome, yielding 28 chromosome-length scaffolds. Chromosome territories, compartments, loops, Barr bodies, and inactive X chromosome (Xi) superdomains persist. The active and inactive genome compartments in mammoth skin more closely resemble Asian elephant skin than other elephant tissues. Our analyses uncover new biology. Differences in compartmentalization reveal genes whose transcription was potentially altered in mammoths vs. elephants. Mammoth Xi has a tetradic architecture, not bipartite like human and mouse. We hypothesize that, shortly after this mammoth's death, the sample spontaneously freeze-dried in the Siberian cold, leading to a glass transition that preserved subfossils of ancient chromosomes at nanometer scale.

Place, publisher, year, edition, pages
2024. Vol. 187, no 14, p. P3541-3562.e51
Keywords [en]
ancient DNA, chromatin loops, fossil, genome architecture, genome assembly, glass transition, Hi-C, vitrification, woolly mammoth, X inactivation
National Category
Genetics and Genomics
Identifiers
URN: urn:nbn:se:su:diva-238304DOI: 10.1016/j.cell.2024.06.002PubMedID: 38996487Scopus ID: 2-s2.0-85197549522OAI: oai:DiVA.org:su-238304DiVA, id: diva2:1930666
Available from: 2025-01-23 Created: 2025-01-23 Last updated: 2025-01-23Bibliographically approved

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Dehasque, MarianneDalén, Love

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