دورية أكاديمية

Genome of Peştera Muierii skull shows high diversity and low mutational load in pre-glacial Europe.

التفاصيل البيبلوغرافية
العنوان: Genome of Peştera Muierii skull shows high diversity and low mutational load in pre-glacial Europe.
المؤلفون: Svensson E; Human Evolution, Department of Organismal Biology, Uppsala University, 752 36 Uppsala, Sweden., Günther T; Human Evolution, Department of Organismal Biology, Uppsala University, 752 36 Uppsala, Sweden. Electronic address: torsten.guenther@ebc.uu.se., Hoischen A; Department of Human Genetics, Radboud University Medical Center, 6526 Nijmegen, the Netherlands; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, 6526 Nijmegen, the Netherlands., Hervella M; Department of Genetics, Physical Anthropology and Animal Physiology, Faculty of Science and Technology, University of the Basque Country (UPV/EHU), B° Sarriena s/n 48940 Leioa, Bizkaia, Spain., Munters AR; Human Evolution, Department of Organismal Biology, Uppsala University, 752 36 Uppsala, Sweden., Ioana M; Laboratory of Human Genetics, University of Medicine and Pharmacy, Craiova, Romania., Ridiche F; Oltenia Museum Craiova, Craiova, Romania., Edlund H; Human Evolution, Department of Organismal Biology, Uppsala University, 752 36 Uppsala, Sweden., van Deuren RC; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, 6526 Nijmegen, the Netherlands., Soficaru A; 'Francisc J. Rainer' Institute of Anthropology, Romanian Academy, 050474 Bucharest, Romania., de-la-Rua C; Department of Genetics, Physical Anthropology and Animal Physiology, Faculty of Science and Technology, University of the Basque Country (UPV/EHU), B° Sarriena s/n 48940 Leioa, Bizkaia, Spain., Netea MG; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, 6526 Nijmegen, the Netherlands; Laboratory of Human Genetics, University of Medicine and Pharmacy, Craiova, Romania., Jakobsson M; Human Evolution, Department of Organismal Biology, Uppsala University, 752 36 Uppsala, Sweden. Electronic address: mattias.jakobsson@ebc.uu.se.
المصدر: Current biology : CB [Curr Biol] 2021 Jul 26; Vol. 31 (14), pp. 2973-2983.e9. Date of Electronic Publication: 2021 May 18.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Cell Press Country of Publication: England NLM ID: 9107782 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0445 (Electronic) Linking ISSN: 09609822 NLM ISO Abbreviation: Curr Biol Subsets: MEDLINE
أسماء مطبوعة: Publication: Cambridge, MA : Cell Press
Original Publication: London, UK : Current Biology Ltd., c1991-
مواضيع طبية MeSH: Neanderthals*/genetics, Animals ; Emigration and Immigration ; Europe ; Female ; Genome, Human ; Humans ; Infant, Newborn ; Skull
مستخلص: Few complete human genomes from the European Early Upper Palaeolithic (EUP) have been sequenced. Using novel sampling and DNA extraction approaches, we sequenced the genome of a woman from "Peştera Muierii," Romania who lived ∼34,000 years ago to 13.5× coverage. The genome shows similarities to modern-day Europeans, but she is not a direct ancestor. Although her cranium exhibits both modern human and Neanderthal features, the genome shows similar levels of Neanderthal admixture (∼3.1%) to most EUP humans but only half compared to the ∼40,000-year-old Peştera Oase 1. All EUP European hunter-gatherers display high genetic diversity, demonstrating that the severe loss of diversity occurred during and after the Last Glacial Maximum (LGM) rather than just during the out-of-Africa migration. The prevalence of genetic diseases is expected to increase with low diversity; however, pathogenic variant load was relatively constant from EUP to modern times, despite post-LGM hunter-gatherers having the lowest diversity ever observed among Europeans.
Competing Interests: Declaration of interests The authors declare no competing interests.
(Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.)
فهرسة مساهمة: Keywords: Upper Palaeolithic; bottleneck; genetic load; palaeogenomics; population size
تواريخ الأحداث: Date Created: 20210519 Date Completed: 20220406 Latest Revision: 20220406
رمز التحديث: 20231215
DOI: 10.1016/j.cub.2021.04.045
PMID: 34010592
قاعدة البيانات: MEDLINE