The Evolutionary History of Common Genetic Variants Influencing Human Cortical Surface Area
| Autor: | Dan Liang, Barbara E. Stranger, Simon E. Fisher, Jodie N. Painter, Amanda K. Tilot, Siyao Liu, Lucía Colodro-Conde, Paul M. Thompson, Sarah E. Medland, Ekaterina A. Khramtsova, Lea K. Davis, Jason L. Stein, Penelope A. Lind, Fabio Macciardi, Janita Bralten, Katrina L. Grasby, Derrek P. Hibar, Sarah M Brotman, Neda Jahanshad |
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| Rok vydání: | 2020 |
| Předmět: |
Neuroinformatics
Multifactorial Inheritance Lineage (genetic) Cognitive Neuroscience Quantitative Trait Loci Genome-wide association study cortical surface area Biology Genome Visual processing Cellular and Molecular Neuroscience 03 medical and health sciences 0302 clinical medicine Neuroimaging Cortex (anatomy) medicine Psychology Humans Genetic Testing AcademicSubjects/MED00385 Gene 030304 developmental biology Cerebral Cortex 0303 health sciences Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] genome-wide association study AcademicSubjects/SCI01870 Neurosciences Genetic Variation Experimental Psychology Cognition Human brain Organ Size Biological Evolution Magnetic Resonance Imaging polygenic selection medicine.anatomical_structure Evolutionary biology Homo sapiens Cognitive Sciences Original Article AcademicSubjects/MED00310 human gained enhancers 030217 neurology & neurosurgery Genetic screen Neuroanatomy |
| Zdroj: | Cerebral Cortex (New York, NY) Cerebral Cortex Cerebral Cortex, 31, 1873-1887 Cerebral cortex (New York, N.Y. : 1991), vol 31, iss 4 Cerebral Cortex, 31, 4, pp. 1873-1887 |
| ISSN: | 1460-2199 1047-3211 |
| Popis: | Contains fulltext : 231711.pdf (Publisher’s version ) (Open Access) Structural brain changes along the lineage leading to modern Homo sapiens contributed to our distinctive cognitive and social abilities. However, the evolutionarily relevant molecular variants impacting key aspects of neuroanatomy are largely unknown. Here, we integrate evolutionary annotations of the genome at diverse timescales with common variant associations from large-scale neuroimaging genetic screens. We find that alleles with evidence of recent positive polygenic selection over the past 2000-3000 years are associated with increased surface area (SA) of the entire cortex, as well as specific regions, including those involved in spoken language and visual processing. Therefore, polygenic selective pressures impact the structure of specific cortical areas even over relatively recent timescales. Moreover, common sequence variation within human gained enhancers active in the prenatal cortex is associated with postnatal global SA. We show that such variation modulates the function of a regulatory element of the developmentally relevant transcription factor HEY2 in human neural progenitor cells and is associated with structural changes in the inferior frontal cortex. These results indicate that non-coding genomic regions active during prenatal cortical development are involved in the evolution of human brain structure and identify novel regulatory elements and genes impacting modern human brain structure. |
| Databáze: | OpenAIRE |
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