@article{b6a56b27367e4b08b5de4886d21fda30,
title = "Neandertal Introgression Sheds Light on Modern Human Endocranial Globularity",
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.",
keywords = "BASAL GANGLIA, EVOLUTION, GENOME, HOMO, AKT, SCHIZOPHRENIA, MYELINATION, ASSOCIATION, SEQUENCE, PHLPP",
author = "Philipp Gunz and Tilot, {Amanda K.} and Katharina Wittfeld and Alexander Teumer and Shapland, {Chin Yang} and {van Erp}, {Theo G. M.} and Michael Dannemann and Benjamin Vernot and Simon Neubauer and Tulio Guadalupe and Guillen Fernandez and Brunner, {Han G.} and Wolfgang Enard and James Fallon and Norbert Hosten and Uwe Voelker and Antonio Profico and {Di Vincenzo}, Fabio and Giorgio Manzi and Janet Kelso and {St Pourcain}, Beate and Jean-Jacques Hublin and Barbara Franke and Svante Paeaebo and Fabio Macciardi and Grabe, {Hans J.} and Fisher, {Simon E.}",
note = "Funding Information: BIG is part of Cognomics, supported by the Donders-Centre for Cognitive Neuroimaging, Departments of Human-Genetics and Cognitive Neuroscience (Radboud University Medical Centre), MPI for Psycholinguistics. Additional funding: BBMRI-NL , Hersenstichting-Nederland , Netherlands Organisation for Scientific Research (NWO), FP7/2007–2013 : 602450 (IMAGEMEND) and 602805 (Aggressotype), NIH-U54-EB020403 . SHIP funded by BMBF Germany ( 01ZZ9603 , 01ZZ0103 , 01ZZ0403 , 03IS2061A , 03ZIK012 ), Federal State, Ministry of Cultural Affairs & Social Ministry of Mecklenburg-West Pomerania, Siemens Healthineers. Thanks to InterSystems (Cach{\'e}-Campus), German Research Foundation ( GR-1912/5-1 ), Max Planck Society , Nomis Foundation (to S.P.), and NIH 1-U24-RR021992 and 1-U24-RR025736-01 . Funding sources had no role in study design, data collection, analysis, and interpretation. We thank the anonymous referees for detailed and constructive feedback that helped improve the manuscript. Funding Information: BIG is part of Cognomics, supported by the Donders-Centre for Cognitive Neuroimaging, Departments of Human-Genetics and Cognitive Neuroscience (Radboud University Medical Centre), MPI for Psycholinguistics. Additional funding: BBMRI-NL, Hersenstichting-Nederland, Netherlands Organisation for Scientific Research (NWO), FP7/2007–2013: 602450 (IMAGEMEND) and 602805 (Aggressotype), NIH-U54-EB020403. SHIP funded by BMBF Germany (01ZZ9603, 01ZZ0103, 01ZZ0403, 03IS2061A, 03ZIK012), Federal State, Ministry of Cultural Affairs & Social Ministry of Mecklenburg-West Pomerania, Siemens Healthineers. Thanks to InterSystems (Cach{\'e}-Campus), German Research Foundation (GR-1912/5-1), Max Planck Society, Nomis Foundation (to S.P.), and NIH 1-U24-RR021992 and 1-U24-RR025736-01. Funding sources had no role in study design, data collection, analysis, and interpretation. We thank the anonymous referees for detailed and constructive feedback that helped improve the manuscript. Publisher Copyright: {\textcopyright} 2018 The Authors",
year = "2019",
month = jan,
day = "7",
doi = "10.1016/j.cub.2018.10.065",
language = "English",
volume = "29",
pages = "120--127.e5",
journal = "Current Biology",
issn = "0960-9822",
publisher = "Cell Press",
number = "1",
}