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A high-coverage Neandertal genome from Chagyrskaya Cave

We sequenced the genome of a Neandertal from Chagyrskaya Cave in the Altai Mountains, Russia, to 27-fold genomic coverage. We show that this Neandertal was a female and that she was more related to Neandertals in western Eurasia [Prüfer et al., Science 358, 655–658 (2017); Hajdinjak et al., Nature 5...

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Autores principales: Mafessoni, Fabrizio, Grote, Steffi, de Filippo, Cesare, Slon, Viviane, Kolobova, Kseniya A., Viola, Bence, Markin, Sergey V., Chintalapati, Manjusha, Peyrégne, Stephane, Skov, Laurits, Skoglund, Pontus, Krivoshapkin, Andrey I., Derevianko, Anatoly P., Meyer, Matthias, Kelso, Janet, Peter, Benjamin, Prüfer, Kay, Pääbo, Svante
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7334501/
https://www.ncbi.nlm.nih.gov/pubmed/32546518
http://dx.doi.org/10.1073/pnas.2004944117
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author Mafessoni, Fabrizio
Grote, Steffi
de Filippo, Cesare
Slon, Viviane
Kolobova, Kseniya A.
Viola, Bence
Markin, Sergey V.
Chintalapati, Manjusha
Peyrégne, Stephane
Skov, Laurits
Skoglund, Pontus
Krivoshapkin, Andrey I.
Derevianko, Anatoly P.
Meyer, Matthias
Kelso, Janet
Peter, Benjamin
Prüfer, Kay
Pääbo, Svante
author_facet Mafessoni, Fabrizio
Grote, Steffi
de Filippo, Cesare
Slon, Viviane
Kolobova, Kseniya A.
Viola, Bence
Markin, Sergey V.
Chintalapati, Manjusha
Peyrégne, Stephane
Skov, Laurits
Skoglund, Pontus
Krivoshapkin, Andrey I.
Derevianko, Anatoly P.
Meyer, Matthias
Kelso, Janet
Peter, Benjamin
Prüfer, Kay
Pääbo, Svante
author_sort Mafessoni, Fabrizio
collection PubMed
description We sequenced the genome of a Neandertal from Chagyrskaya Cave in the Altai Mountains, Russia, to 27-fold genomic coverage. We show that this Neandertal was a female and that she was more related to Neandertals in western Eurasia [Prüfer et al., Science 358, 655–658 (2017); Hajdinjak et al., Nature 555, 652–656 (2018)] than to Neandertals who lived earlier in Denisova Cave [Prüfer et al., Nature 505, 43–49 (2014)], which is located about 100 km away. About 12.9% of the Chagyrskaya genome is spanned by homozygous regions that are between 2.5 and 10 centiMorgans (cM) long. This is consistent with the fact that Siberian Neandertals lived in relatively isolated populations of less than 60 individuals. In contrast, a Neandertal from Europe, a Denisovan from the Altai Mountains, and ancient modern humans seem to have lived in populations of larger sizes. The availability of three Neandertal genomes of high quality allows a view of genetic features that were unique to Neandertals and that are likely to have been at high frequency among them. We find that genes highly expressed in the striatum in the basal ganglia of the brain carry more amino-acid-changing substitutions than genes expressed elsewhere in the brain, suggesting that the striatum may have evolved unique functions in Neandertals.
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spelling pubmed-73345012020-07-15 A high-coverage Neandertal genome from Chagyrskaya Cave Mafessoni, Fabrizio Grote, Steffi de Filippo, Cesare Slon, Viviane Kolobova, Kseniya A. Viola, Bence Markin, Sergey V. Chintalapati, Manjusha Peyrégne, Stephane Skov, Laurits Skoglund, Pontus Krivoshapkin, Andrey I. Derevianko, Anatoly P. Meyer, Matthias Kelso, Janet Peter, Benjamin Prüfer, Kay Pääbo, Svante Proc Natl Acad Sci U S A Biological Sciences We sequenced the genome of a Neandertal from Chagyrskaya Cave in the Altai Mountains, Russia, to 27-fold genomic coverage. We show that this Neandertal was a female and that she was more related to Neandertals in western Eurasia [Prüfer et al., Science 358, 655–658 (2017); Hajdinjak et al., Nature 555, 652–656 (2018)] than to Neandertals who lived earlier in Denisova Cave [Prüfer et al., Nature 505, 43–49 (2014)], which is located about 100 km away. About 12.9% of the Chagyrskaya genome is spanned by homozygous regions that are between 2.5 and 10 centiMorgans (cM) long. This is consistent with the fact that Siberian Neandertals lived in relatively isolated populations of less than 60 individuals. In contrast, a Neandertal from Europe, a Denisovan from the Altai Mountains, and ancient modern humans seem to have lived in populations of larger sizes. The availability of three Neandertal genomes of high quality allows a view of genetic features that were unique to Neandertals and that are likely to have been at high frequency among them. We find that genes highly expressed in the striatum in the basal ganglia of the brain carry more amino-acid-changing substitutions than genes expressed elsewhere in the brain, suggesting that the striatum may have evolved unique functions in Neandertals. National Academy of Sciences 2020-06-30 2020-06-16 /pmc/articles/PMC7334501/ /pubmed/32546518 http://dx.doi.org/10.1073/pnas.2004944117 Text en Copyright © 2020 the Author(s). Published by PNAS. https://creativecommons.org/licenses/by-nc-nd/4.0/ https://creativecommons.org/licenses/by-nc-nd/4.0/This open access article is distributed under Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND) (https://creativecommons.org/licenses/by-nc-nd/4.0/) .
spellingShingle Biological Sciences
Mafessoni, Fabrizio
Grote, Steffi
de Filippo, Cesare
Slon, Viviane
Kolobova, Kseniya A.
Viola, Bence
Markin, Sergey V.
Chintalapati, Manjusha
Peyrégne, Stephane
Skov, Laurits
Skoglund, Pontus
Krivoshapkin, Andrey I.
Derevianko, Anatoly P.
Meyer, Matthias
Kelso, Janet
Peter, Benjamin
Prüfer, Kay
Pääbo, Svante
A high-coverage Neandertal genome from Chagyrskaya Cave
title A high-coverage Neandertal genome from Chagyrskaya Cave
title_full A high-coverage Neandertal genome from Chagyrskaya Cave
title_fullStr A high-coverage Neandertal genome from Chagyrskaya Cave
title_full_unstemmed A high-coverage Neandertal genome from Chagyrskaya Cave
title_short A high-coverage Neandertal genome from Chagyrskaya Cave
title_sort high-coverage neandertal genome from chagyrskaya cave
topic Biological Sciences
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7334501/
https://www.ncbi.nlm.nih.gov/pubmed/32546518
http://dx.doi.org/10.1073/pnas.2004944117
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