Fabrizio Mafessoni

Dr. Fabrizio Mafessoni

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Research Focus & Metrics

Academic Career Length

12Years (2015-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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3 November 2017 in Science
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Journal Article
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KPKay Prüfer
Kay Prüfer
CFCesare de Filippo
Cesare de Filippo
SGSteffi Grote
Steffi Grote
FMFabrizio Mafessoni
Fabrizio Mafessoni
PKPetra Korlević
Petra Korlević
SPSvante Pääbo
Svante Pääbo
Revelations from a Vindija Neandertal genome: Neandertals clearly interbred with the ancestors of non-African modern humans, but many questions remain about our closest ancient relatives. Prüfer et al. present a 30-fold-coverage genome sequence from 50,000- to 65,000-year-old samples from a Neandertal woman found in Vindija, Croatia, and compared this sequence with genomes obtained from the Altai Neandertal, the Denisovans, and ancient and modern humans (see the Perspective by Bergström and Tyler-Smith). Neandertals likely lived in small groups and had lower genetic diversity than modern humans. The findings increase the number of Neandertal variants identified within populations of modern humans, and they suggest that a larger number of phenotypic and diseaserelated variants with Neandertal ancestry remain in the modern Eurasian gene pool than previously thought. Science , this issue p. 655 ; see also p. 586

12 May 2017 in Science
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VSViviane Slon
Viviane Slon
CHCharlotte Hopfe
Charlotte Hopfe
CWClemens L. Weiß
Clemens L. Weiß
FMFabrizio Mafessoni
Fabrizio Mafessoni
MRMarco de la Rasilla
Marco de la Rasilla
MMMatthias Meyer
Matthias Meyer
Tracing our ancestors in cave sediments: Analysis of DNA from archaic hominids has illuminated human evolution. However, sites where thousand-year-old bones and other remains can be found are relatively rare. Slonet al.wanted to exploit any trace remains that our ancestors left behind. They looked for ancient DNA of hominids and other mammals in cave sediments, even those lacking skeletal remains. They identified mitochondrial DNA from Neandertal and Denisovan individuals in cave sediments at multiple sites.Science, this issue p.605

16 June 2020 in Proceedings of the National Academy of Sciences
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FMFabrizio Mafessoni
Fabrizio Mafessoni
SGSteffi Grote
Steffi Grote
CFCesare de Filippo
Cesare de Filippo
VSViviane Slon
Viviane Slon
KKKseniya A. Kolobova
Kseniya A. Kolobova
SPSvante Pääbo
Svante Pääbo
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.

7 April 2021 in Nature
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MHMateja Hajdinjak
Mateja Hajdinjak
FMFabrizio Mafessoni
Fabrizio Mafessoni
LSLaurits Skov
Laurits Skov
BVBenjamin Vernot
Benjamin Vernot
AHAlexander Hübner
Alexander Hübner
SPSvante Pääbo
Svante Pääbo
Modern humans appeared in Europe by at least 45,000 years ago1–5, but the extent of their interactions with Neanderthals, who disappeared by about 40,000 years ago6, and their relationship to the broader expansion of modern humans outside Africa are poorly understood. Here we present genome-wide data from three individuals dated to between 45,930 and 42,580 years ago from Bacho Kiro Cave, Bulgaria1,2. They are the earliest Late Pleistocene modern humans known to have been recovered in Europe so far, and were found in association with an Initial Upper Palaeolithic artefact assemblage. Unlike two previously studied individuals of similar ages from Romania7 and Siberia8 who did not contribute detectably to later populations, these individuals are more closely related to present-day and ancient populations in East Asia and the Americas than to later west Eurasian populations. This indicates that they belonged to a modern human migration into Europe that was not previously known from the genetic record, and provides evidence that there was at least some continuity between the earliest modern humans in Europe and later people in Eurasia. Moreover, we find that all three individuals had Neanderthal ancestors a few generations back in their family history, confirming that the first European modern humans mixed with Neanderthals and suggesting that such mixing could have been common.

7 May 2021 in Science
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BVBenjamin Vernot
Benjamin Vernot
EZElena Irene Zavala
Elena Irene Zavala
AGAsier Gómez-Olivencia
Asier Gómez-Olivencia
ZJZenobia Jacobs
Zenobia Jacobs
VSViviane Slon
Viviane Slon
MMMatthias Meyer
Matthias Meyer
The value of dirty DNA: Environmental DNA can identify the presence of species, even from the distant past. Surveying three cave sites in western Europe and southern Siberia, Vernot et al. identified nuclear DNA and confirmed that it is from the close relatives of anatomically modern humans—Neanderthal and Denisovan individuals. A phylogenetic analysis and modeling show that the DNA in sediment samples from several layers corresponds to previously studied skeletal remains. These results demonstrate that environmental data can be applied to study the population genetics of the extinct Neanderthal and Denisovan lineages, identifying a turnover of Neanderthal populations ∼100,000 years ago. Science , this issue p. eabf1667

1 June 2019 in Science Advances
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SPStéphane Peyrégne
Stéphane Peyrégne
VSViviane Slon
Viviane Slon
FMFabrizio Mafessoni
Fabrizio Mafessoni
CFCesare de Filippo
Cesare de Filippo
MHMateja Hajdinjak
Mateja Hajdinjak
KPKay Prüfer
Kay Prüfer
Sequences from two ~120,000-year-old individuals reveal the deep population history of European Neandertals.