Genetic variations within human gained enhancer elements affect human brain sulcal morphology.

Herve Lemaitre, Yann Le Guen, Amanda K. Tilot, Jason L. Stein, Cathy Philippe, Jean-François Mangin, Simon E. Fisher, Vincent Frouin
NeuroImage. 2022-11-01; : 119773
DOI: 10.1016/j.neuroimage.2022.119773

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Lemaitre H(1), Guen YL(2), Tilot AK(3), Stein JL(4), Philippe C(2), Mangin JF(2), Fisher SE(5), Frouin V(2).

Author information:
(1)Institut des Maladies Neurodégénératives, CNRS UMR 5293, Université de
bordeaux, Centre Broca Nouvelle-Aquitaine, Bordeaux, France. Electronic address:
(2)Université Paris-Saclay, CEA, CNRS, Neurospin, Baobab, Gif-sur-Yvette,
(3)Language and Genetics Department, Max Planck Institute for Psycholinguistics,
Nijmegen, Netherlands.
(4)Department of Genetics and the UNC Neuroscience Center, UNC-Chapel Hill,
Chapel Hill, NC, USA.
(5)Language and Genetics Department, Max Planck Institute for Psycholinguistics,
Nijmegen, Netherlands; Donders Institute for Brain, Cognition and Behaviour,
Radboud University, Nijmegen, Netherlands.

The expansion of the cerebral cortex is one of the most distinctive changes in
the evolution of the human brain. Cortical expansion and related increases in
cortical folding may have contributed to emergence of our capacities for
high-order cognitive abilities. Molecular analysis of humans, archaic hominins,
and non-human primates has allowed identification of chromosomal regions showing
evolutionary changes at different points of our phylogenetic history. In this
study, we assessed the contributions of genomic annotations spanning 30 million
years to human sulcal morphology measured via MRI in more than 18,000
participants from the UK Biobank. We found that variation within brain-expressed
human gained enhancers, regulatory genetic elements that emerged since our last
common ancestor with Old World monkeys, explained more trait heritability than
expected for the left and right calloso-marginal posterior fissures and the
right central sulcus. Intriguingly, these are sulci that have been previously
linked to the evolution of locomotion in primates and later on bipedalism in our
hominin ancestors.

Copyright © 2022. Published by Elsevier Inc.

Conflict of interest statement: Declaration of interests The authors declare
that they have no known competing financial interests or personal relationships
that could have appeared to influence the work reported in this paper.

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