The human cerebral cortex has undergone significant expansion in primate evolution. With interdisciplinary approaches such as genomics, evolutionary biology, and neuroscience can help us gain a better understanding of primate brain evolution, brain development, and neurological disorders. However, due to technological limitations, the relationship between complex genomic regions and brain development or neurological disorders has not been fully elucidated. Here, we discover a significant correlation between human complex genomic region and abnormal brain development with complete genomes. With evolutionary analysis, protein structure analysis, and mouse models, we observe that the protein structural of a human-specific RGPD duplication changes under selection, and anther RGPD duplication haplotypes are associated with Joubert syndrome caused by NPHP1 deletion. Overall, evolutionary medicine approaches deepen our understanding of the roles of complex genomic regions in primate brain evolution and in neurological disorders.
A/Prof. Yafei Mao
School of Life Sciences and Biotechnology, SJTU