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Using rare genetic mutations to revisit structural brain asymmetry

Kopal, Jakub, Kumar, Kuldeep, Shafighi, Kimia, Saltoun, Karin, Modenato, Claudia, Moreau, Clara A., Huguet, Guillaume, Jean-Louis, Martineau, Martin, Charles-Olivier, Saci, Zohra, Younis, Nadine, Douard, Elise, Jizi, Khadije, Beauchamp-Chatel, Alexis, Kushan, Leila, Silva, Ana I. ORCID:, van den Bree, Marianne B. M. ORCID:, Linden, David E. J., Owen, Michael J. ORCID:, Hall, Jeremy, Lippé, Sarah, Draganski, Bogdan, Sønderby, Ida E., Andreassen, Ole A., Glahn, David C., Thompson, Paul M., Bearden, Carrie E., Zatorre, Robert, Jacquemont, Sébastien and Bzdok, Danilo 2024. Using rare genetic mutations to revisit structural brain asymmetry. Nature Communications 15 (1) , 2639. 10.1038/s41467-024-46784-w

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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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Additional Information: License information from Publisher: LICENSE 1: URL:, Type: open-access
Publisher: Nature Research
ISSN: 2041-1723
Date of First Compliant Deposit: 27 March 2024
Date of Acceptance: 11 March 2024
Last Modified: 27 Mar 2024 10:00

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