< Terug naar vorige pagina

Publicatie

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

Tijdschriftbijdrage - e-publicatie

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.
Tijdschrift: Nature communications
ISSN: 2041-1723
Volume: 10
Jaar van publicatie:2019
Trefwoorden:A1 Journal article
BOF-keylabel:ja
BOF-publication weight:10
CSS-citation score:2
Auteurs:International
Authors from:Higher Education
Toegankelijkheid:Open