Neandertal Introgression Sheds Light on Modern Human Endocranial Globularity

• DOI: 10.1016/j.cub.2018.10.065
• Publication Date: 2018-12-13T16:05:30Z
• Authors: 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; Antonio Profico; 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
• Keywords: Endocast; Introgression; Ancient DNA; Homo sapiens; Fossil Record

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