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Thread: The genome of a woman ∼34,000 ago, reduced diversity, genetic load.

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    The genome of a woman ∼34,000 ago, reduced diversity, genetic load.

    Genome of Peştera Muierii skull shows high diversity and low mutational load in pre-glacial Europe.
    Emma Svensson, Torsten Günther, Alexander Hoischen, Montserrat Hervella, Arielle R. Munters, Mihai Ioana, Florin Ridiche, Hanna Edlund, Rosanne C. van Deuren, Andrei Soficaru, Concepción de-la-Rua, Mihai G. Netea, Mattias Jakobsson,
    Current Biology, 2021,ISSN 0960-9822,

    https://doi.org/10.1016/j.cub.2021.04.045.
    (https://www.sciencedirect.com/scienc...60982221005923)




    Highlights

    • Peştera Muierii woman is related to Europeans, but she is not a direct ancestor
    • Reduced diversity in Europe caused by Last Glaciation, not out-of-Africa bottleneck
    • Genetic load appears indifferent across 40,000 years of European history
    • New DNA extraction approach recovers up to 33 times more DNA from ancient remains

    Summary - Few comlete 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.



    Keywords







    Several genetically distinct hunter-gatherer groups were likely present in Eurasia between 45 and 30 kya,13, 14, 1516 differing in their relationship to later Stone Age groups and modern-day populations. Archaeogenomic studies have revealed a separation between European (e.g., Goyet Q116-1 from present-day Belgium and Sunghir III and Kostenki 14 from present-day Russia)14,29,30and East Asian hunter-gatherers (e.g., Tianyuan)41,42in this period, but genetic data also exist from groups that did not contribute directly to modern-day Eurasians (e.g., Ust’-Ishim and Oase 1).28 40 Genetically, Peştera Muierii 1 falls into the genetic variation of European hunter-gatherers of similar age (Figure 3), but not with the older Ust’-Ishim or Oase 1 individuals, despite the geographic proximity to the latter. The genetic resemblance between these EUP individuals (Sunghir III, Kostenki 14, and Peştera Muierii 1) shows extensive genetic similarities across space (2,000 km separate the Romanian and Russian sites) and suggests that stratification rather follows time than geography. Modeling the relationships as admixture graph, Peştera Muierii 1 is genetically intermediate between Eastern and Western European hunter-gatherer groups and shows distant relationships to later hunter-gatherers who contributed to modern Europeans (Figure 3). PM1 shows similar affinities to all modern-day European populations (Figure S2B), but she also displays substantial private genetic drift (Figure S3H), suggesting that she represents a group that was a side branch to the ancestor of modern-day Europeans.







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    Interesting to note: Peştera Muierii woman has the basal mtDNA U6, and U6 is mostly found among North Africans. That said, there is no evidence for a strong affinity between Pestera Muierii 1 and Iberomaurusians.


    The sequence data of Peştera Muierii 1 confirm the previous assignment of Peştera Muierii 1 to the basal mitochondrial haplogroup U6
    (STAR Methods; Figure S2A),36 making PM1 the only occurrence of the U6 haplogroup found until now in prehistoric Europeans. Derived U6 haplotypes are primarily found among prehistoric and present-day North African populations, but not among modern-day Europeans.36 There is ample evidence of migrations from Eurasia into North Africa during the Holocene and possibly earlier,37,38 potentially explaining this observation.36f4 statistics show no evidence of an excess of autosomal allele sharing between PM1 and Iberomaurusian Moroccan hunter-gatherers (STAR Methods; Figure S3D).38
    http://www.cell.com/current-biology/...showall%3Dtrue

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    how does she relate to Vesonice - El Miron - Villabruna clusters ?

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    [QUOTE=real expert;624437]Interesting to note: Peştera https://journalsMuierii woman has the basal mtDNA U6, and U6 is mostly found among North Africans. That said, there is no evidence for a strong affinity between Pestera Muierii 1 and Iberomaurusians.

    Real Expert: thanks for the post and linking the paper. Here is the paper identified PM1as having the basal mtdna U6. Hervella et al 2016 (Nature) "The mitogenome of a 35,000-year old Homo sapiens from Europe supports a Palaelolithic back-migration to Africa".
    Many of the same authors are on both papers. I tried to link it but not seeming to work for some reason. My apologies.

    https://www.nature.com/articles/srep25501
    Last edited by Palermo Trapani; 19-05-21 at 03:17. Reason: clarification

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    Quote Originally Posted by real expert View Post
    Interesting to note: Peştera Muierii woman has the basal mtDNA U6, and U6 is mostly found among North Africans. That said, there is no evidence for a strong affinity between Pestera Muierii 1 and Iberomaurusians.



    http://www.cell.com/current-biology/...showall%3Dtrue
    It could be that when E-M125 expanded from somewhere from Ethiopia in North Africa, the Aterians were similar to Pestera Muierii? And they contributed only maternally, i mean through a bottleneck maternally decades/centuries later since there is no evidence of autosomal connection.

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    Quote Originally Posted by Hawk View Post
    It could be that when E-M125 expanded from somewhere from Ethiopia in North Africa, the Aterians were similar to Pestera Muierii? And they contributed only maternally, i mean through a bottleneck maternally decades/centuries later since there is no evidence of autosomal connection.
    the Aterians were similar to >300 ka Irhoud, Atlas Mts, they were not modern humans, they were archaic and got extinct around 30 ka

    U is Eurasian, and U6 got extinct in Eurasia, but expanded in Africa after a backmigration along with Iberomaurisians (E-M35)

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    Quote Originally Posted by bicicleur 2 View Post
    how does she relate to Vesonice - El Miron - Villabruna clusters ?
    There are models that show she and Goyet contributed to the formation of Villabruna. Basically PM1 is 31% Q116 and 69% Sunghir and WHG can be modelled as 21% Q116 and 79% PM1

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    Quote Originally Posted by bicicleur 2 View Post
    the Aterians were similar to >300 ka Irhoud, Atlas Mts, they were not modern humans, they were archaic and got extinct around 30 ka

    U is Eurasian, and U6 got extinct in Eurasia, but expanded in Africa after a backmigration along with Iberomaurisians (E-M35)
    ANA seems be Neo African/ Para Eurasian. No evidence shows that it is releated to Basal Human/Ghost Modern, or Ghost archaic. Jerbel Irhoud prob died out long before AMH settled in the Magreb

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