Abstract
Throughout the past decade, studying ancient genomes has provided unique insights into human prehistory, and differences between modern humans and other branches like Neanderthals can enrich our understanding of the molecular basis of unique modern human traits. Modern human variation and the interactions between different hominin lineages are now well studied, making it reasonable to go beyond fixed genetic changes and explore changes that are observed at high frequency in present-day humans. Here, we identify 571 genes with non-synonymous changes at high frequency. We suggest that molecular mechanisms in cell division and networks affecting cellular features of neurons were prominently modified by these changes. Complex phenotypes in brain growth trajectory and cognitive traits are likely influenced by these networks and other non-coding changes presented here. We propose that at least some of these changes contributed to uniquely human traits, and should be prioritized for experimental validation.
Highlights
Homo sapiens appears to be a “very special primate”[1]
The goal of this paper is to provide a revised, extended set of recent single nucleotide changes in humans since their split from Neanderthals that could enrich our understanding of the molecular basis of the recent human condition
Using publicly available data on one Denisovan and two Neanderthal individuals and present-day human variation (Methods), we calculated the numbers of single nucleotide changes (SNCs) which most likely arose recently on the respective lineages after their split from each other, and their functional consequences (Table 1)
Summary
Homo sapiens appears to be a “very special primate”[1]. Our position among animal species stands out largely thanks to the composite complexity of our cultures, social structures and communication systems. The growth pattern might differ between the populations[10,11], with Neanderthal alleles influencing the endocranial shape in modern humans[12], while the brain size and encephalization of humans and Neanderthals is similar[9,13,14] This ontogenic trajectory, termed the “globularization phase”, might have contributed to cognitive changes that underlie behavioral traits in which humans differ from their extinct relatives, despite mounting evidence for their cognitive sophistication[9,15,16,17,18]. The observation of recurrent gene flow between modern human and archaic populations implies a broad overall similarity, yet, such subtle differences may still have contributed to the evolutionary outcome[18] This does not imply a superiority of humans, but specific changes that might have facilitated survival under the given environmental conditions. It cannot be emphasized enough that experimental validation will be needed to confirm our hypotheses concerning alterations
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