Using rare genetic mutations to revisit structural brain asymmetry

Jakub Kopal, Kuldeep Kumar, Kimia Shafighi, Karin Saltoun, Claudia Modenato, Clara A. Moreau, Guillaume Huguet, Martineau Jean-Louis, Charles-Olivier Martin, Zohra Saci, Nadine Younis, Elise Douard, Khadije Jizi, Alexis Beauchamp-Chatel, Leila Kushan, Ana I. Silva, Marianne B. M. Bree, David E. J. Linden, Michael J. Owen, Jeremy Hall, Sarah Lippé, Bogdan Draganski, Ida E. Sønderby, Ole A. Andreassen, David C. Glahn, Paul M. Thompson, Carrie E. Bearden, Robert Zatorre, Sébastien Jacquemont and Danilo Bzdok ()
Additional contact information
Jakub Kopal: Mila - Québec Artificial Intelligence Institute
Kuldeep Kumar: Centre de recherche CHU Sainte-Justine
Kimia Shafighi: Mila - Québec Artificial Intelligence Institute
Karin Saltoun: Mila - Québec Artificial Intelligence Institute
Claudia Modenato: Centre Hospitalier Universitaire Vaudois and University of Lausanne
Clara A. Moreau: Keck School of Medicine of USC
Guillaume Huguet: Centre de recherche CHU Sainte-Justine
Martineau Jean-Louis: Centre de recherche CHU Sainte-Justine
Charles-Olivier Martin: Centre de recherche CHU Sainte-Justine
Zohra Saci: Centre de recherche CHU Sainte-Justine
Nadine Younis: Centre de recherche CHU Sainte-Justine
Elise Douard: Centre de recherche CHU Sainte-Justine
Khadije Jizi: Centre de recherche CHU Sainte-Justine
Alexis Beauchamp-Chatel: University of Montréal
Leila Kushan: UCLA
Ana I. Silva: Maastricht University
Marianne B. M. Bree: Cardiff University
David E. J. Linden: Maastricht University
Michael J. Owen: Cardiff University
Jeremy Hall: Cardiff University
Sarah Lippé: Centre de recherche CHU Sainte-Justine
Bogdan Draganski: Centre Hospitalier Universitaire Vaudois and University of Lausanne
Ida E. Sønderby: Oslo University Hospital and University of Oslo
Ole A. Andreassen: Oslo University Hospital and University of Oslo
David C. Glahn: Boston Children’s Hospital and Harvard Medical School
Paul M. Thompson: Keck School of Medicine of USC
Carrie E. Bearden: UCLA
Robert Zatorre: Music and Sound Research
Sébastien Jacquemont: Centre de recherche CHU Sainte-Justine
Danilo Bzdok: Mila - Québec Artificial Intelligence Institute

Nature Communications, 2024, vol. 15, issue 1, 1-19

Abstract: Abstract Asymmetry between the left and right hemisphere is a key feature of brain organization. Hemispheric functional specialization underlies some of the most advanced human-defining cognitive operations, such as articulated language, perspective taking, or rapid detection of facial cues. Yet, genetic investigations into brain asymmetry have mostly relied on common variants, which typically exert small effects on brain-related phenotypes. Here, we leverage rare genomic deletions and duplications to study how genetic alterations reverberate in human brain and behavior. We designed a pattern-learning approach to dissect the impact of eight high-effect-size copy number variations (CNVs) on brain asymmetry in a multi-site cohort of 552 CNV carriers and 290 non-carriers. Isolated multivariate brain asymmetry patterns spotlighted regions typically thought to subserve lateralized functions, including language, hearing, as well as visual, face and word recognition. Planum temporale asymmetry emerged as especially susceptible to deletions and duplications of specific gene sets. Targeted analysis of common variants through genome-wide association study (GWAS) consolidated partly diverging genetic influences on the right versus left planum temporale structure. In conclusion, our gene-brain-behavior data fusion highlights the consequences of genetically controlled brain lateralization on uniquely human cognitive capacities.

Date: 2024
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DOI: 10.1038/s41467-024-46784-w

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