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Genetic mapping and evolutionary analysis of human-expanded cognitive networks

by Posthuma, Danielle , de Lange, Siemon C. , Ardesch, Dirk Jan , Savage, Jeanne E. , Rilling, James K. , Watanabe, Kyoko , van den Heuvel, Martijn P. , Li, Longchuan , Scholtens, Lianne H. , Jansen, Philip R. , Wei, Yongbin , Preuss, Todd M.

in 38/61 / 45/43 / 59/57 / 631/181/2474 / 631/378/2583 / 631/378/2649 / 631/378/3920 / Animals / Autism / Biological evolution / Brain / Brain - diagnostic imaging / Brain - metabolism / Brain Mapping / Chimpanzees / Cognition / Cognitive ability / Cortex / Dendrites / Dendritic structure / Evolution / Evolution, Molecular / Gene expression / Gene Expression Profiling / Gene mapping / Genes / Genetic analysis / Humanities and Social Sciences / Humans / Intelligence / Macaca - genetics / Magnetic Resonance Imaging / Mental disorders / multidisciplinary / Networks / Neural Pathways - diagnostic imaging / Neural Pathways - metabolism / Pan troglodytes - genetics / Schizophrenia / Science / Science (multidisciplinary) / Synapses

2019

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Genetic mapping and evolutionary analysis of human-expanded cognitive networks

2019

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2019

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Journal Article

Genetic mapping and evolutionary analysis of human-expanded cognitive networks

Posthuma, Danielle,

de Lange, Siemon C.,

Ardesch, Dirk Jan,

Savage, Jeanne E.,

Rilling, James K.,

Watanabe, Kyoko,

van den Heuvel, Martijn P.,

Li, Longchuan,

Scholtens, Lianne H.,

Jansen, Philip R.,

Wei, Yongbin,

Preuss, Todd M.

2019

Overview

Cognitive brain networks such as the default-mode network (DMN), frontoparietal network, and salience network, are key functional networks of the human brain. Here we show that the rapid evolutionary cortical expansion of cognitive networks in the human brain, and most pronounced the DMN, runs parallel with high expression of human-accelerated genes (HAR genes). Using comparative transcriptomics analysis, we present that HAR genes are differentially more expressed in higher-order cognitive networks in humans compared to chimpanzees and macaques and that genes with high expression in the DMN are involved in synapse and dendrite formation. Moreover, HAR and DMN genes show significant associations with individual variations in DMN functional activity, intelligence, sociability, and mental conditions such as schizophrenia and autism. Our results suggest that the expansion of higher-order functional networks subserving increasing cognitive properties has been an important locus of genetic changes in recent human brain evolution. Several cortical association areas have rapidly expanded in size during human evolution, including elements of the central cognitive default mode network (DMN). Here, the authors show that genes highly divergent between humans and other primates (HAR genes) are particularly expressed in these brain regions.

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Publisher

Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio

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