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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.

A number of different approaches are currently available to digitally restore the symmetry of a specimen deformed by taphonomic processes. These tools include mirroring and retrodeformation to approximate the original shape of an object by symmetrisation. Retrodeformation has the potential to return a rather faithful representation of the original shape, but its power is limited by the availability of bilateral landmarks. A recent protocol proposed by Schlager and colleagues (2018) overcomes this issue by using bilateral landmarks and curves as well as semilandmarks. Here we applied this protocol to the Middle Pleistocene human cranium from Steinheim (Germany), the holotype of an abandoned species named Homo steinheimensis. The peculiar morphology of this fossil, associated with the taphonomic deformation of the entire cranium and the lack of a large portion of the right side of the face, has given rise to different hypotheses over its phylogenetic position. The reconstruction presented here sheds new light on the taphonomic origin of some features observed on this crucial specimen and results in a morphology consistent with its attribution to the Neanderthal lineage. [ABSTRACT FROM AUTHOR]