Detection of chromosomal aneuploidy in ancient genomes
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Published:2024-01-11
Issue:1
Volume:7
Page:
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ISSN:2399-3642
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Container-title:Communications Biology
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language:en
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Short-container-title:Commun Biol
Author:
Anastasiadou KyriakiORCID, Silva MarinaORCID, Booth ThomasORCID, Speidel Leo, Audsley Tony, Barrington ChristopherORCID, Buckberry Jo, Fernandes Diana, Ford Ben, Gibson Mark, Gilardet Alexandre, Glocke Isabelle, Keefe Katie, Kelly Monica, Masters MackenzieORCID, McCabe Jesse, McIntyre Lauren, Ponce Paola, Rowland Stephen, Ruiz Ventura Jordi, Swali PoojaORCID, Tait FrankieORCID, Walker David, Webb Helen, Williams Mia, Witkin Annsofie, Holst Malin, Loe LouiseORCID, Armit IanORCID, Schulting RickORCID, Skoglund PontusORCID
Abstract
AbstractAncient DNA is a valuable tool for investigating genetic and evolutionary history that can also provide detailed profiles of the lives of ancient individuals. In this study, we develop a generalised computational approach to detect aneuploidies (atypical autosomal and sex chromosome karyotypes) in the ancient genetic record and distinguish such karyotypes from contamination. We confirm that aneuploidies can be detected even in low-coverage genomes ( ~ 0.0001-fold), common in ancient DNA. We apply this method to ancient skeletal remains from Britain to document the first instance of mosaic Turner syndrome (45,X0/46,XX) in the ancient genetic record in an Iron Age individual sequenced to average 9-fold coverage, the earliest known incidence of an individual with a 47,XYY karyotype from the Early Medieval period, as well as individuals with Klinefelter (47,XXY) and Down syndrome (47,XY, + 21). Overall, our approach provides an accessible and automated framework allowing for the detection of individuals with aneuploidies, which extends previous binary approaches. This tool can facilitate the interpretation of burial context and living conditions, as well as elucidate past perceptions of biological sex and people with diverse biological traits.
Publisher
Springer Science and Business Media LLC
Subject
General Agricultural and Biological Sciences,General Biochemistry, Genetics and Molecular Biology,Medicine (miscellaneous)
Reference76 articles.
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