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From the same journal

Neandertal Introgression Sheds Light on Modern Human Endocranial Globularity

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Author(s)

  • Philipp Gunz
  • Amanda K. Tilot
  • Katharina Wittfeld
  • Alexander Teumer
  • Chin Yang Shapland
  • Theo G.M. van Erp
  • Michael Dannemann
  • Benjamin Vernot
  • Simon Neubauer
  • Tulio Guadalupe
  • Guillén Fernández
  • Han G. Brunner
  • Wolfgang Enard
  • James Fallon
  • Norbert Hosten
  • Uwe Völker
  • Fabio Di Vincenzo
  • Giorgio Manzi
  • Janet Kelso
  • Beate St. Pourcain
  • Jean Jacques Hublin
  • Barbara Franke
  • Svante Pääbo
  • Fabio Macciardi
  • Hans J. Grabe
  • Simon E. Fisher

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Publication details

JournalCurrent Biology
DateAccepted/In press - 31 Oct 2018
DatePublished (current) - 7 Jan 2019
Issue number1
Volume29
Pages (from-to)120-127.e5
Original languageEnglish

Abstract

One of the features that distinguishes modern humans from our extinct relatives and ancestors is a globular shape of the braincase [1–4]. As the endocranium closely mirrors the outer shape of the brain, these differences might reflect altered neural architecture [4, 5]. However, in the absence of fossil brain tissue, the underlying neuroanatomical changes as well as their genetic bases remain elusive. To better understand the biological foundations of modern human endocranial shape, we turn to our closest extinct relatives: the Neandertals. Interbreeding between modern humans and Neandertals has resulted in introgressed fragments of Neandertal DNA in the genomes of present-day non-Africans [6, 7]. Based on shape analyses of fossil skull endocasts, we derive a measure of endocranial globularity from structural MRI scans of thousands of modern humans and study the effects of introgressed fragments of Neandertal DNA on this phenotype. We find that Neandertal alleles on chromosomes 1 and 18 are associated with reduced endocranial globularity. These alleles influence expression of two nearby genes, UBR4 and PHLPP1, which are involved in neurogenesis and myelination, respectively. Our findings show how integration of fossil skull data with archaic genomics and neuroimaging can suggest developmental mechanisms that may contribute to the unique modern human endocranial shape.

Bibliographical note

© 2018 The Authors.

    Research areas

  • basal ganglia, brain shape, cerebellum, evolution, gene expression, genetic association, homo sapiens, magnetic resonance imaging, myelination, Neandertal

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