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It is confirmed that genes encoding brain-related proteins are among the most strongly conserved protein-related coding genes in the human genome and showed that cerebellum expresses a set of divergent protein-coding genes that may have contributed to the emergence of fine motor skills and social cognition in humans.
Abstract
17 The human brain differs from that of other primates, but the genetic basis of these differences 18 remains unclear. We investigated the evolutionary pressures acting on almost all human 19 protein-coding genes ( N =11,667; 1:1 orthologs in primates) on the basis of their divergence 20 from those of early hominins, such as Neanderthals, and non-human primates. We confirm 21 that genes encoding brain-related proteins are among the most strongly conserved protein- 22 coding genes in the human genome. Combining our evolutionary pressure metrics for the 23 protein-coding genome with recent datasets, we found that this conservation applied to genes 24 functionally associated with the synapse and expressed in brain structures such as the 25 prefrontal cortex and the cerebellum. Conversely, several of the protein-coding genes that 26 diverge most in hominins relative to other primates are associated with brain-associated 27 diseases, such as micro/macrocephaly, dyslexia, and autism. We also showed that cerebellum 28 granule neurons express a set of divergent protein-coding genes that may have contributed to 29 the emergence of fine motor skills and social cognition in humans. This resource is available 30 from http://neanderthal.pasteur.fr and can be used to estimate evolutionary constraints acting 31 on a set of genes and to explore their relative contributions to human traits. 32