The autism- and schizophrenia-associated protein CYFIP1 regulates bilateral brain connectivity and behaviour

Nuria Domínguez-Iturza, Adrian C. Lo, Disha Shah, Marcelo Armendáriz, Anna Vannelli, Valentina Mercaldo, Massimo Trusel, Ka Wan Li, Denise Gastaldo, Ana Rita Santos, Zsuzsanna Callaerts-Vegh, Rudi D’Hooge, Manuel Mameli, Annemie Van der Linden, August B. Smit, Tilmann Achsel and Claudia Bagni ()
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Nuria Domínguez-Iturza: University of Lausanne
Adrian C. Lo: University of Lausanne
Disha Shah: University of Antwerp
Marcelo Armendáriz: KU Leuven
Anna Vannelli: University of Lausanne
Valentina Mercaldo: University of Lausanne
Massimo Trusel: University of Lausanne
Ka Wan Li: VU University Amsterdam
Denise Gastaldo: University of Lausanne
Ana Rita Santos: VIB Center for Brain & Disease Research
Zsuzsanna Callaerts-Vegh: Laboratory of Biological Psychology
Rudi D’Hooge: Laboratory of Biological Psychology
Manuel Mameli: University of Lausanne
Annemie Van der Linden: University of Antwerp
August B. Smit: VU University Amsterdam
Tilmann Achsel: University of Lausanne
Claudia Bagni: University of Lausanne

Nature Communications, 2019, vol. 10, issue 1, 1-13

Abstract: Abstract Copy-number variants of the CYFIP1 gene in humans have been linked to autism spectrum disorders (ASD) and schizophrenia (SCZ), two neuropsychiatric disorders characterized by defects in brain connectivity. Here, we show that CYFIP1 plays an important role in brain functional connectivity and callosal functions. We find that Cyfip1-heterozygous mice have reduced functional connectivity and defects in white matter architecture, similar to phenotypes found in patients with ASD, SCZ and other neuropsychiatric disorders. Cyfip1-deficient mice also present decreased myelination in the callosal axons, altered presynaptic function, and impaired bilateral connectivity. Finally, Cyfip1 deficiency leads to abnormalities in motor coordination, sensorimotor gating and sensory perception, which are also known neuropsychiatric disorder-related symptoms. These results show that Cyfip1 haploinsufficiency compromises brain connectivity and function, which might explain its genetic association to neuropsychiatric disorders.

Date: 2019
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DOI: 10.1038/s41467-019-11203-y

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