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Cited by 96Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchNeuroscience and Neuropharmacology Research

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

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Domínguez-Iturza, Nuria, Lo, Adrian C., Shah, Disha, Armendáriz, Marcelo, Vannelli, Anna, Mercaldo, Valentina, Trusel, Massimo, Li, Ka Wan +9 more·2019·Nature Communications
DOI 10.1038/s41467-019-11203-yPMC PMC6672001

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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.

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  • In the Cyfip1 rat model, inability to respond flexibly was linked to white matter changes observed using DTI.

    “This inability to respond flexibly was linked to white matter changes observed using diffusion tensor imaging (DTI), that were similar to those seen in 15q11.2(BP1–2)del CNV carriers [12] and Cyfip1-deficient mice [13].”

    From Linking haploinsufficiency of the autism- and schizophrenia-associated gene Cyfip1 with striatal-limbic-cortical network dysfunction and cognitive inflexibility (2024) · cites this paper as [13]

  • Previous studies in Cyfip1 haploinsufficient animal models as well as 15q11.2 deletion CNV carriers have all reported marked changes to white matter in corpus callosum microstructure.

    “Previous studies, in Cyfip1 haploinsufficient animal models as well as 15q11.2 deletion CNV carriers have all reported marked changes to white matter in corpus callosum microstructure [11–13].”

    From Linking haploinsufficiency of the autism- and schizophrenia-associated gene Cyfip1 with striatal-limbic-cortical network dysfunction and cognitive inflexibility (2024) · cites this paper as [13]

  • Cyfip1+/- mice have reduced bilateral functional connectivity and structural abnormalities in the corpus callosum.

    “previous work from our laboratory found that Cyfip1+/- mice have reduced bilateral functional connectivity and structural abnormalities in the corpus callosum28.”

    From CYFIP1 governs the development of cortical axons by modulating calcium availability (2025) · cites this paper as [28]

  • Extensive white matter changes, including thinning of the myelin sheath in the corpus callosum of rats or mice with haploinsufficiency of Cyfip1, have been observed, suggesting a potential contribution of myelination defects to the increased risk of psychiatric disorders observed in individuals with a 15q11.2 copy number deletion.

    “Extensive white matter changes, including thinning of the myelin sheath in the corpus callosum of rats or mice with haploinsufficiency of Cyfip1, have been observed, suggesting a potential contribution of myelination defects to the increased risk of psychiatric disorders observed in individuals with a 15q11.2 copy number deletion79,80.”

    From The WAVE complex in developmental and adulthood brain disorders (2025) · cites this paper as [80]

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Authors
Domínguez-Iturza, N., Lo, A. C., Shah, D., Armendáriz, M., Vannelli, A., Mercaldo, V., Trusel, M., Li, K. W., Gastaldo, D., Santos, A. R., Callaerts-Vegh, Z., D’Hooge, R., Mameli, M., Van der Linden, A., Smit, A. B., Achsel, T., & Bagni, C.
Affiliations
  • University of Lausanne (CH)
  • University of Antwerp (BE)
  • KU Leuven (BE)
  • Vrije Universiteit Amsterdam (NL)
  • VIB-KU Leuven Center for Brain & Disease Research (BE)
  • University of Rome Tor Vergata (IT)
Corresponding author
Bagni, Claudia
ORCID
Venue
Nature Communications
Publisher
Springer Science and Business Media LLC
Published
2019-08-01
Volume
10
Issue
1
Pages
3454-3454
ISSN
2041-1723 (ISSN-L)
DOI
10.1038/s41467-019-11203-y
PMC
PMC6672001
OpenAlex
W2965166321
Cited by
96
References
117
Citations by year
2026: 6 · 2025: 13 · 2024: 11 · 2023: 13 · 2022: 15 · 2021: 14 · 2020: 16 · 2019: 5 · 2018: 2
FWCI
7.51
Type
journal article
Language
en
Open access
Licence
Locations
  • Nature Communications (publishedVersion, cc-by)
  • bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • SERVAL (Université de Lausanne) (publishedVersion, cc-by)
  • VU Research Portal (acceptedVersion, other-oa)
  • Cineca Institutional Research Information System (Tor Vergata University) (submittedVersion, cc-by)
  • IRIS (submittedVersion, cc-by)
  • Lirias (KU Leuven) (submittedVersion, other-oa)
  • RePEc: Research Papers in Economics (submittedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
  • VUBIR (Vrije Universiteit Brussel) (submittedVersion)
  • Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
Funders
  • Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (182651, 158776, 310030)
  • Fonds Wetenschappelijk Onderzoek (12R1119N, G088415N)
  • KU Leuven
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
Keywords
CYFIP1, autism spectrum disorder, schizophrenia, copy number variation, haploinsufficiency, brain functional connectivity, corpus callosum, white matter architecture, myelination, presynaptic function, sensorimotor gating, motor coordination, sensory perception, neuropsychiatric disorders
MeSH terms
Autism Spectrum Disorder, Animals, Axons, Behavior, Animal, Brain, Disease Models, Animal, Heterozygote, Humans, Male, Mice, Inbred C57BL, Nerve Tissue Proteins, Nervous System, Nervous System Physiological Phenomena, Phenotype, Psychomotor Performance, Schizophrenia, Mice, Knockout, Genetic Predisposition to Disease, Adaptor Proteins, Signal Transducing, Mice, Sensory Gating, Genetic Association Studies, DNA Copy Number Variations, Haploinsufficiency, White Matter

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