CYFIP1 Dosages Exhibit Divergent Behavioral Impact via Diametric Regulation of NMDA Receptor Complex Translation in Mouse Models of Psychiatric Disorders
Open accessAbstract
Background Gene dosage imbalance caused by copy number variations (CNVs) is a prominent contributor to brain disorders. In particular, 15q11.2 CNV duplications and deletions have been associated with autism spectrum disorder and schizophrenia, respectively. The mechanism underlying these diametric contributions remains unclear. Methods We established both loss-of-function and gain-of-function mouse models of Cyfip1, one of four genes within 15q11.2 CNVs. To assess the functional consequences of altered CYFIP1 levels, we performed systematic investigations on behavioral, electrophysiological, and biochemical phenotypes in both mouse models. In addition, we utilized RNA immunoprecipitation sequencing (RIP-seq) analysis to reveal molecular targets of CYFIP1 in vivo. Results Cyfip1 loss-of-function and gain-of function mouse models exhibited distinct and shared behavioral abnormalities related to autism spectrum disorder and schizophrenia. RIP-seq analysis identified messenger RNA targets of CYFIP1 in vivo, including postsynaptic NMDA receptor (NMDAR) complex components. In addition, these mouse models showed diametric changes in levels of postsynaptic NMDAR complex components at synapses because of dysregulated protein translation, resulting in bidirectional alteration of NMDAR-mediated signaling. Importantly, pharmacological balancing of NMDAR signaling in these mouse models with diametric Cyfip1 dosages rescues behavioral abnormalities. Conclusions CYFIP1 regulates protein translation of NMDAR and associated complex components at synapses to maintain normal synaptic functions and behaviors. Our integrated analyses provide insight into how gene dosage imbalance caused by CNVs may contribute to divergent neuropsychiatric disorders.
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Loss of Cyfip1 may drive overactive NMDAR signalling, hippocampal hyperactivity and aberrant drive of dopamine release; behavioural deficits in the Cyfip1 knockout and overexpressing lines could be ameliorated by pharmacological treatment with NMDAR antagonists and agonists, respectively.
“Moreover, this loss of Cyfip1 may drive overactive NMDAR signalling, hippocampal hyperactivity and aberrant drive of dopamine release; behavioural deficits in the Cyfip1 knockout and overexpressing lines could be ameliorated by pharmacological treatment with NMDAR antagonists and agonists, respectively.”
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 [98]
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Mengzhen, Z., Xinwei, H., Zeheng, T., Li, N., Yang, Y., Huirong, Y., Kaisi, F., Ding, X., Liucheng, Y., & Wu, K. (2024) · Journal of Cancer Research and Clinical Oncology · doi:10.1007/s00432-024-05630-8 · Cited by 8 · see citing works
Zhang, Y., Kang, H. R., Jun, Y., Kang, H., Bang, G., Ma, R., Ju, S., Yoon, D. E., Kim, Y., Kim, K., et al. (2024) · Human Molecular Genetics · doi:10.1093/hmg/ddae107 · Cited by 8 · see citing works
Ma, R., Kim, U. S., Chung, Y., Kang, H. R., Zhang, Y., & Han, K. (2024) · Brain and Development · doi:10.1016/j.braindev.2024.104302 · Cited by 8 · see citing works
Ma, R., Zhang, Y., Li, H., Kang, H. R., Kim, Y., & Han, K. (2023) · Animal Cells and Systems · doi:10.1080/19768354.2023.2192263 · Cited by 7 · see citing works
Haddon, J. E., Titherage, D., Heckenast, J. R., Carter, J., Owen, M. J., Hall, J., Wilkinson, L. S., & Jones, M. W. (2024) · Translational Psychiatry · doi:10.1038/s41398-024-02969-x · Cited by 6 · see citing works
“Recent work comparing a Cy fi p1 knockout and overexpressing mouse models by Kim and colleagues [98] has shown a key role for Cy fi p1 in synaptic function: translation of mRNAs encoding the NMDA receptor complex (GRIN2A and GRIN2B) and associated scaffold proteins (HOMER1, SHANK2, PSD95) were signi…”
BackgroundHabela, C. W., Liu, S., Taga, A., Oddoye, S., Dastgheyb, R. M., Haughey, N. J., Bergles, D. E., Song, H., Ming, G., & Maragakis, N. J. (2025) · Translational Psychiatry · doi:10.1038/s41398-025-03453-w · Cited by 5 · see citing works
Self-citationCYFIP1 governs the development of cortical axons by modulating calcium availability
Ricci, C., Midroit, M. J., Caicci, F., Achsel, T., Domínguez-Iturza, N., & Bagni, C. (2025) · Nature Communications · doi:10.1038/s41467-025-65801-0 · Cited by 1 · see citing works
“A recently published study based on RNA immunoprecipitation sequencing (RIP-seq) experiments 54 suggested that somemRNAs encoding Ca 2+ channel subunits are putative CYFIP1-targets, which could explain how CYFIP1 regulates intracellular [Ca 2+ ].”
CASKIN2 mediates PTPσ-orchestrated transsynaptic mechanisms at excitatory synapses
Han, K. A., Jang, G., Lee, H.-Y., Kim, B., Kanato, T., Vas, V., Buday, L., Liu, X., Choi, S.-Y., Um, J., et al. (2025) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.2509116122 · Cited by 2 · see citing works
A Delicate Balance: CYFIP1 Dosage Drives Divergent Phenotypes
Raj, N. (2022) · Biological Psychiatry · doi:10.1016/j.biopsych.2022.09.005 · Cited by 1 · see citing works
Analysis of Genetic Factors of Sporadic Schizophrenia in Family Trios Using Whole-Genome Sequencing
Andreeva, T. V., Afanasiev, F. A., Gusev, F., Patrikeev, A., Kunizheva, S. S., & Rogaev, E. (2023) · Russian Journal of Genetics · doi:10.1134/s1022795423060029
Analysis of Genetic Factors of Sporadic Schizophrenia in Family Trios Using Whole Genome Sequencing
Андреева, Т. В., Afanasiev, P. A., Gusev, F. E., Patrikeev, A. D., Станиславовна, К. С., & Rogaev, E. I. (2023) · Генетика · doi:10.31857/s0016675823060024
- Authors
- Kim, N.-S., Ringeling, F. R., Zhou, Y., Nguyen, H. N., Temme, S. J., Lin, Y.-T., Eacker, S., Dawson, V. L., Dawson, T. M., Xiao, B., Hsu, K.-S., Canzar, S., Li, W., Worley, P., Christian, K. M., Yoon, K.-J., Song, H., & Ming, G.-L.
- Affiliations
- Johns Hopkins University (US)
- University of Pennsylvania (US)
- National Cheng Kung University (TW)
- Ludwig-Maximilians-Universität München (DE)
- Shanghai Jiao Tong University (CN)
- Corresponding author
- Yoon, Ki-Jun
- Ming, Guo-li
- ORCID
- Venue
- Biological Psychiatry
- Publisher
- Elsevier BV
- Published
- 2022-11
- Volume
- 92
- Issue
- 10
- Pages
- 815-826
- ISSN
- 0006-3223 (ISSN-L)
- PMC
- PMC8568734
- OpenAlex
- W3158052916
- Cited by
- 15
- References
- 78
- Citations by year
- 2025: 4 · 2024: 5 · 2023: 5 · 2022: 1
- FWCI
- 1.55
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Biological Psychiatry (acceptedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- University of Regensburg Publication Server (University of Regensburg) (submittedVersion)
- Funders
- National Institutes of Health (R35NS097370, R35NS097966)
- NIMH (U19MH106434)
- NIDA (P50DA044123)
- NINDS (R35NS116843)
- Simons Foundation (308988)
- Kasturba Medical College, Manipal
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Keywords
- CYFIP1, copy number variation, 15q11.2, autism spectrum disorder, schizophrenia, NMDA receptor complex, gene dosage imbalance, NMDA receptor signaling, behavioral phenotypes
- MeSH terms
- Autism Spectrum Disorder, Animals, Mental Disorders, Disease Models, Animal, Mice, Inbred C57BL, RNA, RNA, Messenger, Receptors, N-Methyl-D-Aspartate, N-Methylaspartate, Adaptor Proteins, Signal Transducing, Mice, DNA Copy Number Variations
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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