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Nat Commun. 2019 Oct 24;10(1):4839. doi: 10.1038/s41467-019-12764-8.

Genetic mapping and evolutionary analysis of human-expanded cognitive networks.

Author information

1
Connectome Lab, Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, 1081 HV, Amsterdam, The Netherlands.
2
Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, 1081 HV, Amsterdam, The Netherlands.
3
Department of Child and Adolescent Psychiatry, Erasmus Medical Center, 3015 GD, Rotterdam, The Netherlands.
4
Marcus Autism Center, Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, GA, 30322, USA.
5
Division of Neuropharmacology and Neurologic Diseases, Emory University, Atlanta, GA, 30322, USA.
6
Center for Translational Social Neuroscience, Emory University, Atlanta, GA, 30322, USA.
7
Yerkes National Primate Research Center, Emory University, Atlanta, GA, 30322, USA.
8
Department of Anthropology, Emory University, Atlanta, GA, 30322, USA.
9
Center for Behavioral Neuroscience, Emory University, Atlanta, GA, 30322, USA.
10
Department of Psychiatry and Behavioral Sciences, Emory University, Atlanta, GA, 30322, USA.
11
Department of Clinical Genetics, Amsterdam Neuroscience, Amsterdam UMC, 1081 HV, Amsterdam, The Netherlands.
12
Connectome Lab, Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, 1081 HV, Amsterdam, The Netherlands. martijn.vanden.heuvel@vu.nl.
13
Department of Clinical Genetics, Amsterdam Neuroscience, Amsterdam UMC, 1081 HV, Amsterdam, The Netherlands. martijn.vanden.heuvel@vu.nl.

Abstract

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.

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