Neandertal introgression sheds light on modern human endocranial globularity

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

doi:10.1016/j.cub.2018.10.065

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Neandertal introgression sheds light on modern human endocranial globularity

MPS-Authors

Gunz, Philipp
Department of Human Evolution, Max Planck Institute for Evolutionary Anthropology, Max Planck Society;

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Tilot, Amanda K.
Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society;

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Shapland, Chin Yang
Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society;

Dannemann, Michael
Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Max Planck Society;

Vernot, Benjamin
Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Max Planck Society;

Neubauer, Simon
Department of Human Evolution, Max Planck Institute for Evolutionary Anthropology, Max Planck Society;

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Guadalupe, Tulio
Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society;

Kelso, Janet
Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Max Planck Society;

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St Pourcain, Beate
Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society;
Donders Institute for Brain, Cognition and Behaviour, External Organizations;
Population genetics of human communication, MPI for Psycholinguistics, Max Planck Society;

Hublin, Jean-Jacques
Department of Human Evolution, Max Planck Institute for Evolutionary Anthropology, Max Planck Society;

Pääbo, Svante
Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Max Planck Society;

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Fisher, Simon E.
Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society;
Donders Institute for Brain, Cognition and Behaviour, External Organizations;

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Gunz_etal_2019_Neandertal introgression.pdf
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mmc1.pdf
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mmc2.xlsx
(Supplementary material), 5MB

Citation

Gunz, P., Tilot, A. K., Wittfeld, K., Teumer, A., Shapland, C. Y., Van Erp, T. G. M., et al. (2019). Neandertal introgression sheds light on modern human endocranial globularity. Current Biology, 29(1), 120-127. doi:10.1016/j.cub.2018.10.065.

Cite as: http://hdl.handle.net/21.11116/0000-0002-AD7A-3

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 magnetic resonance imaging (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.