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Significance Which aspects of our genetic makeup contribute to distinctly human features of brain anatomy? Here, we identify associations between common DNA variants and interindividual differences in cortical circuitry, based… Click to show full abstract
Significance Which aspects of our genetic makeup contribute to distinctly human features of brain anatomy? Here, we identify associations between common DNA variants and interindividual differences in cortical circuitry, based on neuroimaging in tens of thousands of people, and assess how they relate to genomic regions of evolutionary interest, capturing different timescales along the lineage leading to Homo sapiens. Our work confirms and extends links between human-gained enhancers active in fetal brain tissue and cortical surface area measured in adults, including left-hemisphere regions related to speech. The study also reveals that regions of the genome carrying introgressed Neanderthal variants make a significantly diminished contribution to connectivity of the left-hemisphere uncinate fasciculus, a white-matter tract involved in mapping sound to meaning.
Journal Title: Proceedings of the National Academy of Sciences of the United States of America
Year Published: 2022
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