CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome

Abekhoukh, Sabiha; Bardoni, Barbara

doi:10.3389/fncel.2014.00081

Cited by 110Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchNeuroscience and Neuropharmacology Research

CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome

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Abekhoukh, Sabiha, Bardoni, Barbara·2014·Frontiers in Cellular Neuroscience

DOI 10.3389/fncel.2014.00081PMC PMC3973919

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Abstract

Intellectual disability (ID) and autism spectrum disorders (ASDs) have in common alterations in some brain circuits and brain abnormalities, such as synaptic transmission and dendritic spines morphology. Recent studies have indicated a differential expression for specific categories of genes as a cause for both types of disease, while an increasing number of genes is recognized to produce both disorders. An example is the Fragile X mental retardation gene 1 (FMR1), whose silencing causes the Fragile X syndrome, the most common form of ID and autism, also characterized by physical hallmarks. Fragile X mental retardation protein (FMRP), the protein encoded by FMR1, is an RNA-binding protein with an important role in translational control. Among the interactors of FMRP, CYFIP1/2 (cytoplasmic FMRP interacting protein) proteins are good candidates for ID and autism, on the bases of their genetic implication and functional properties, even if the precise functional significance of the CYFIP/FMRP interaction is not understood yet. CYFIP1 and CYFIP2 represent a link between Rac1, the WAVE (WAS protein family member) complex and FMRP, favoring the cross talk between actin polymerization and translational control.

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Reduction of Cyfip1 or fly Hspc300 affects the level of the other components of the WRC.
“Indeed, it is reported that reduction of Cyfip1 or fly Hspc300 affects the level of the other components of the WRC (Kunda et al., 2003; Schenck et al., 2004; Abekhoukh and Bardoni, 2014; Gautier et al., 2011; Qurashi et al., 2007; De Rubeis et al., 2013).”
From New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes (2017) · cites this paper as Abekhoukh and Bardoni, 2014
The DROSOPHILA section reports that inactivating fly CYFIP reduces expression of the other WAVE-complex members, supporting the CYFIP portion of the claim. The paper identifies HSPC300 as a complex member, but the passages found do not report that reducing fly HSPC300 affects the levels of other members. No page numbers were available in our copy. (LLM, conf=0.85)
Experimental — accuracy not yet measured
CYFIP1 interacts with many proteins (Rac, WRC members and membrane components) that are not known partners of FMRP.
“while it is known that CYFIP1 interacts with many proteins (Rac, WRC members and membrane components) that are not known partners of FMRP (Abekhoukh and Bardoni, 2014).”
From New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes (2017) · cites this paper as Abekhoukh and Bardoni, 2014
The section “CYFIP PROTEINS: THE WAVE COMPLEX AND BEYOND” (page not provided) describes CYFIP1’s interaction with Rac1, its membership in the WAVE regulatory complex, and a membrane-protein motif that binds a surface formed by CYFIP and Abi2. It distinguishes CYFIP’s WRC role from its interaction with FMRP, but does not state that Rac, WRC members, or those membrane proteins are not known partners of FMRP. (LLM, conf=0.82)
Experimental — accuracy not yet measured
CYFIP1 and CYFIP2 are members of a protein family that interacts with FMRP in mammals and in the fly.
“CYFIP1 and CYFIP2 are members of a family of proteins interacting with the Fragile X mental retardation protein (FMRP, encoded by FMR1) in mammals, as well as in the fly (Abekhoukh and Bardoni, 2014; Schenck et al., 2001, 2003).”
From New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes (2017) · cites this paper as Abekhoukh and Bardoni, 2014
CYFIP1 and CYFIP2 have been often considered as having the same function.
“Owing to their high level of homology, CYFIP1 and CYFIP2 have been often considered as having the same function (Abekhoukh and Bardoni, 2014).”
From New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes (2017) · cites this paper as Abekhoukh and Bardoni, 2014
FMRP is not only involved in translation regulation and CYFIP1 is a component of complexes that do not contain FMRP.
“These conclusions are consistent with the fact that FMRP is, indeed, not only involved in translation regulation (Maurin et al., 2014) and CYFIP1 is a component of complexes that do not contain FMRP (Abekhoukh and Bardoni, 2014; Chen et al., 2014).”
From New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes (2017) · cites this paper as Abekhoukh and Bardoni, 2014

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WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivity
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Making and breaking synapses through local mRNA regulation
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Braking WAVEs
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Converging Pathways in Autism Spectrum Disorders: Interplay between Synaptic Dysfunction and Immune Responses
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Longitudinal follow‐up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class
Peters, S. U., Horowitz, L. T., Barbieri‐Welge, R. L., Taylor, J. L., & Hundley, R. J. (2011) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2011.02455.x · Cited by 68 · see citing works
Drosophila cyfip Regulates Synaptic Development and Endocytosis by Suppressing Filamentous Actin Assembly
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Essential role for Abi1 in embryonic survival and WAVE2 complex integrity
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Sra-1 interacts with Kette and Wasp and is required for neuronal and bristle development inDrosophila
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Parents' responses to their child's diagnosis of neurofibromatosis 1
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Regulatory BC1 RNA and the Fragile X Mental Retardation Protein: Convergent Functionality in Brain
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Clathrin is required for Scar/Wave-mediated lamellipodium formation
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FMRP regulates actin filament organization via the armadillo protein p0071
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Autism and intellectual disability: Two sides of the same coin
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HSPC300 and its role in neuronal connectivity
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nev (cyfip2) is required for retinal lamination and axon guidance in the zebrafish retinotectal system
Pittman, A. J., Gaynes, J. A., & Chien, C.-B. (2010) · Developmental Biology · doi:10.1016/j.ydbio.2010.05.512 · Cited by 31 · see citing works
15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism
Madrigal, I., Rodríguez-Revenga, L., Xunclà, M., & Milà, M. (2012) · Gene · doi:10.1016/j.gene.2012.07.023 · Cited by 23 · see citing works
Ultrastructural abnormalities in CA1 hippocampus caused by deletion of the actin regulator WAVE-1
Hazai, D., Szudoczki, R., Ding, J., Soderling, S. H., Weinberg, R. J., Sótonyi, P., & Rácz, B. (2013) · PLoS ONE · doi:10.1371/journal.pone.0075248 · Cited by 22 · see citing works
Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability
Melko, M., Nguyen, L. S., Shaw, M. A., Jolly, L. A., Bardoni, B., & Gécz, J. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt155 · Cited by 13 · see citing works
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Intellectual disabilities, neuronal posttranscriptional RNA metabolism, and RNA-binding proteins
Bardoni, B., Abekhoukh, S., Zongaro, S., & Melko, M. (2012) · Progress in brain research · doi:10.1016/b978-0-444-54299-1.00003-0 · Cited by 13 · see citing works
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Reply to Bagni: On BC1 RNA and the fragile X mental retardation protein
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Major synaptic signaling pathways involved in intellectual disability
Pavlowsky, A., Chelly, J., & Billuart, P. (2012) · Molecular Psychiatry · doi:10.1038/mp.2012.79 · Cited by 8 · see citing works

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Glutamate Synapses in Human Cognitive Disorders
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Global treadmilling coordinates actin turnover and controls the size of actin networks
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Co-regulation of mRNA translation by TDP-43 and Fragile X Syndrome protein FMRP
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Reduced protein synthesis in schizophrenia patient-derived olfactory cells
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Novel West syndrome candidate genes in a Chinese cohort
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De novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy
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Cytoplasmic FMR1-Interacting Protein 2 Is a Major Genetic Factor Underlying Binge Eating
Kirkpatrick, S. L., Goldberg, L. R., Yazdani, N., Babbs, R. K., Wu, J., Reed, E. R., Jenkins, D. F., Bolgioni, A. F., Landaverde, K. I., Luttik, K. P., et al. (2017) · Biological Psychiatry · doi:10.1016/j.biopsych.2016.10.021 · Cited by 71 · see citing works
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures
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Fragile X-like behaviors and abnormal cortical dendritic spines in cytoplasmic FMR1-interacting protein 2-mutant mice
Han, K., Chen, H., Gennarino, V. A., Richman, R., Lu, H.-C., & Zoghbi, H. Y. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddu595 · Cited by 72 · see citing works
Microglia from offspring of dams with allergic asthma exhibit epigenomic alterations in genes dysregulated in autism
Vogel Ciernia, A., Careaga, M., LaSalle, J. M., & Ashwood, P. (2018) · Glia · doi:10.1002/glia.23261 · Cited by 69 · see citing works
Axon-Axon Interactions Regulate Topographic Optic Tract Sorting via CYFIP2-Dependent WAVE Complex Function
Cioni, J.-M., Wong, H. H., Bressan, D., Kodama, L., Harris, W. A., & Holt, C. E. (2018) · Neuron · doi:10.1016/j.neuron.2018.01.027 · Cited by 67 · see citing works
Alzheimer-related decrease in CYFIP2 links amyloid production to tau hyperphosphorylation and memory loss
Tiwari, S. S., Mizuno, K., Ghosh, A., Aziz, W., Troakes, C., Daoud, J., Golash, V., Noble, W., Hortobágyi, T., & Giese, K. P. (2016) · Brain · doi:10.1093/brain/aww205 · Cited by 65 · see citing works
Dendritic spine actin cytoskeleton in autism spectrum disorder
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New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes
Abekhoukh, S., Sahin, H. B., Grossi, M., Zongaro, S., Maurin, T., Madrigal, I., Kazue-Sugioka, D., Raas-Rothschild, A., Doulazmi, M., Carrera, P., et al. (2017) · Disease Models & Mechanisms · doi:10.1242/dmm.025809 · Cited by 59 · see citing works
“CYFIP1 and CYFIP2 are members of a family of proteins interacting with the Fragile X mental retardation protein (FMRP, encoded by FMR1 ) in mammals, as well as in the fly (Abekhoukh and Bardoni, 2014; Schenck et al., 2001, 2003).”
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Inability to activate Rac1-dependent forgetting contributes to behavioral inflexibility in mutants of multiple autism-risk genes
Dong, T., He, J., Wang, S., Wang, L., Cheng, Y., & Zhong, Y. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1602152113 · Cited by 60 · see citing works
A Cyfip2-Dependent Excitatory Interneuron Pathway Establishes the Innate Startle Threshold
Marsden, K. C., Jain, R. A., Wolman, M. A., Echeverry, F. A., Nelson, J. C., Hayer, K. E., Miltenberg, B., Pereda, A. E., & Granato, M. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.03.095 · Cited by 54 · see citing works
Fragile X mental retardation protein (FMRP) interacting proteins exhibit different expression patterns during development
Bonaccorso, C. M., Spatuzza, M., Di Marco, B., Gloria, A., Barrancotto, G., Cupo, A., Musumeci, S. A., D'Antoni, S., Bardoni, B., & Catania, M. V. (2015) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2015.02.004 · Cited by 52 · see citing works
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Copy Number Variants in Alzheimer’s Disease
Cuccaro, D., Marco, E. V. D., Cittadella, R., & Cavallaro, S. (2016) · Journal of Alzheimer s Disease · doi:10.3233/jad-160469 · Cited by 49 · see citing works
Fragile X-related protein family: a double-edged sword in neurodevelopmental disorders and cancer
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Dysregulation of protein synthesis and dendritic spine morphogenesis in ASD: studies in human pluripotent stem cells
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Substrain- and sex-dependent differences in stroke vulnerability in C57BL/6 mice
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Neuronal function and dysfunction of CYFIP2: from actin dynamics to early infantile epileptic encephalopathy
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The Role of Protocadherin 19 (PCDH19) in Neurodevelopment and in the Pathophysiology of Early Infantile Epileptic Encephalopathy‐9 (EIEE9)
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Neuronal Cytoskeleton in Intellectual Disability: From Systems Biology and Modeling to Therapeutic Opportunities
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The Search for an Effective Therapy to Treat Fragile X Syndrome: Dream or Reality?
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Molecular Subtyping Based on Cuproptosis-Related Genes and Characterization of Tumor Microenvironment Infiltration in Kidney Renal Clear Cell Carcinoma
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Childhood-Onset Schizophrenia: Insights from Induced Pluripotent Stem Cells
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Stress granules: Guardians of cellular health and triggers of disease
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Treadmill exercise enhances synaptic plasticity in the ischemic penumbra of MCAO mice by inducing the expression of Camk2a via CYFIP1 upregulation
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The Proteome of BLOC-1 Genetic Defects Identifies the Arp2/3 Actin Polymerization Complex to Function Downstream of the Schizophrenia Susceptibility Factor Dysbindin at the Synapse
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Differential cell-type-expression of CYFIP1 and CYFIP2 in the adult mouse hippocampus
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Nuclear aggregates of NONO/SFPQ and A-to-I-edited RNA in Parkinson’s disease and dementia with Lewy bodies
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New Insights Into the Role of Cav2 Protein Family in Calcium Flux Deregulation in Fmr1-KO Neurons
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FMRP Modulates Activity-Dependent Spine Plasticity by Binding Cofilin1 mRNA and Regulating Localization and Local Translation
Feuge, J., Scharkowski, F., Michaelsen‐Preusse, K., & Körte, M. (2019) · Cerebral Cortex · doi:10.1093/cercor/bhz059 · Cited by 28 · see citing works
FMRP and CYFIP1 at the Synapse and Their Role in Psychiatric Vulnerability
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Epilepsy- and intellectual disability-associated CYFIP2 interacts with both actin regulators and RNA-binding proteins in the neonatal mouse forebrain
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Molecular Dissection of Neurodevelopmental Disorder-Causing Mutations in CYFIP2
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Phosphorylation of CYFIP2, a component of the WAVE-regulatory complex, regulates dendritic spine density and neurite outgrowth in cultured hippocampal neurons potentially by affecting the complex assembly
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Handling FMRP and its molecular partners: Structural insights into Fragile X Syndrome
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Cyfip1 Haploinsufficiency Increases Compulsive-Like Behavior and Modulates Palatable Food Intake in Mice: Dependence on Cyfip2 Genetic Background, Parent-of Origin, and Sex
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Targeted pharmacological treatment of autism spectrum disorders: fragile X and Rett syndromes
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Fragile X Mental Retardation Protein: To Be or Not to Be a Translational Enhancer
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Local Protein Translation and RNA Processing of Synaptic Proteins in Autism Spectrum Disorder
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Robo recruitment of the Wave regulatory complex plays an essential and conserved role in midline repulsion
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Smaller Body Size, Early Postnatal Lethality, and Cortical Extracellular Matrix-Related Gene Expression Changes of Cyfip2-Null Embryonic Mice
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Reduced Complexity Cross Design for Behavioral Genetics
Bryant, C. D., Ferris, M. T., De Villena, F. P. M., Damaj, M. I., Kumar, V., & Mulligan, M. K. (2018) · Molecular-Genetic and Statistical Techniques for Behavioral and Neural Research · doi:10.1016/b978-0-12-804078-2.00008-8 · Cited by 24 · see citing works
Transcriptomic landscape of early hair follicle and epidermal development
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Fragile X mental retardation protein: from autism to neurodegenerative disease
Wang, H. (2015) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2015.00043 · Cited by 23 · see citing works
Haploinsufficiency of Cyfip2 Causes Lithium‐Responsive Prefrontal Dysfunction
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Chronic glutamate treatment selectively modulates AMPA RNA editing and ADAR expression and activity in primary cortical neurons
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Hippocampal neuronal subtypes develop abnormal dendritic arbors in the presence of Fragile X astrocytes
Jacobs, S. A., Cheng, C., & Doering, L. C. (2016) · Neuroscience · doi:10.1016/j.neuroscience.2016.03.011 · Cited by 21 · see citing works
Enhanced Prefrontal Neuronal Activity and Social Dominance Behavior in Postnatal Forebrain Excitatory Neuron-Specific Cyfip2 Knock-Out Mice
Zhang, Y., Hyae, R. K., Lee, S.-H., Kim, Y., Ma, R., Jin, C., Lim, J.-E., Kim, S., Kang, Y., Kang, H., et al. (2020) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2020.574947 · Cited by 19 · see citing works
Deficiency of the neurodevelopmental disorder-associated geneCyfip2alters the retinal ganglion cell properties and visual acuity
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Early diagnosis improving the outcome of an infant with epileptic encephalopathy with cytoplasmic FMRP interacting protein 2 mutation
Zhong, M., Liao, S., Li, T., Wu, P., Wang, Y., Wu, F., Li, X., Hong, S., Yan, L., & Jiang, L. (2019) · Medicine · doi:10.1097/md.0000000000017749 · Cited by 19 · see citing works
The Downregulation of Prognosis- and Immune Infiltration-Related Gene CYFIP2 Serves as a Novel Target in ccRCC
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Modifying PCDH19 levels affects cortical interneuron migration
Pancho, A., Mitsogiannis, M. D., Aerts, T., Vecchia, M. D., Ebert, L. K., Geenen, L., Noterdaeme, L., Vanlaer, R., Stulens, A., Hulpiau, P., et al. (2022) · Frontiers in Neuroscience · doi:10.3389/fnins.2022.887478 · Cited by 17 · see citing works
Proteome rearrangements after auditory learning: high‐resolution profiling of synapse‐enriched protein fractions from mouse brain
Kähne, T., Richter, S., Kolodziej, A., Smalla, K., Pielot, R., Engler, A., Ohl, F. W., Dieterich, D. C., Seidenbecher, C. I., Tischmeyer, W., et al. (2016) · Journal of Neurochemistry · doi:10.1111/jnc.13636 · Cited by 17 · see citing works
Persistent Cyfip1 Expression Is Required to Maintain the Adult Subventricular Zone Neurogenic Niche
Habela, C. W., Yoon, K.-J., Kim, N.-S., Taga, A., Bell, K., Bergles, D. E., Maragakis, N. J., Ming, G.-L., & Song, H. (2020) · The Journal of Neuroscience · doi:10.1523/jneurosci.2249-19.2020 · Cited by 16 · see citing works
Cytoplasmic FMR1 interacting protein (CYFIP) family members and their function in neural development and disorders
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Self-citation
A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P
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Self-citation
Cytoplasmic FMR1 interacting protein (CYFIP) family members and their function in neural development and disorders
Biembengut, Í. V., Silva, I. L. Z., de Souza, T. D. A. C. B., & Shigunov, P. (2021) · Molecular Biology Reports · doi:10.1007/s11033-021-06585-6 · Cited by 16 · see citing works
Cellulaire en moleculaire dysfuncties in het Fragiele X Syndroom: inzichten in de functie van CYFIP1 en Amyloide Precursor Proteine
Pasciuto, E. (2014) · Lirias

Authors: Abekhoukh, S., & Bardoni, B.
Affiliations: Centre National de la Recherche Scientifique (FR)
Corresponding author: Bardoni, Barbara
ORCID: Abekhoukh, Sabiha
Bardoni, Barbara
Venue: Frontiers in Cellular Neuroscience
Publisher: Frontiers Media SA
Published: 2014-03-27
Volume: 8
Pages: 81-81
ISSN: 1662-5102 (ISSN-L)
DOI: 10.3389/fncel.2014.00081
PMC: PMC3973919
OpenAlex: W2123421954
Cited by: 110
References: 89
Citations by year: 2026: 1 · 2025: 6 · 2024: 9 · 2023: 16 · 2022: 5 · 2021: 11 · 2020: 12 · 2019: 10 · 2018: 14 · 2017: 8 · 2016: 9 · 2015: 8 · 2014: 1
FWCI: 1.15
Type: journal article
Language: en
Open access: gold
doi.org
Licence: cc-by
Locations: Frontiers in Cellular Neuroscience (publishedVersion, cc-by)
Europe PMC (PubMed Central) (publishedVersion, cc-by)
PubMed Central (publishedVersion, cc-by)
PubMed (publishedVersion)
DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders: Agence Nationale de la Recherche (ANR-11-LABX-0028)
Institut National de la Santé et de la Recherche Médicale (ANR-11-LABX-0028-01)
Fondation ARC pour la Recherche sur le Cancer (#ANR-11-LABX-0028-01)
Centre National de la Recherche Scientifique (ANR-11-LABX-0028-01)
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, CYFIP2, FMRP, FMR1 gene, fragile X syndrome, autism spectrum disorder, intellectual disability, translational regulation, actin polymerization, WAVE complex, Rac1, synaptic transmission, dendritic spines

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CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome

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