Neuronal function and dysfunction of CYFIP2: from actin dynamics to early infantile epileptic encephalopathy
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The cytoplasmic FMR1-interacting protein family (CYFIP1 and CYFIP2) are evolutionarily conserved proteins originally identified as binding partners of the fragile X mental retardation protein (FMRP), a messenger RNA (mRNA)-binding protein whose loss causes the fragile X syndrome. Moreover, CYFIP is a key component of the heteropentameric WAVE regulatory complex (WRC), a critical regulator of neuronal actin dynamics. Therefore, CYFIP may play key roles in regulating both mRNA translation and actin polymerization, which are critically involved in proper neuronal development and function. Nevertheless, compared to CYFIP1, neuronal function and dysfunction of CYFIP2 remain largely unknown, possibly due to the relatively less well established association between CYFIP2 and brain disorders. Despite high amino acid sequence homology between CYFIP1 and CYFIP2, several in vitro and animal model studies have suggested that CYFIP2 has some unique neuronal functions distinct from those of CYFIP1. Furthermore, recent whole-exome sequencing studies identified de novo hot spot variants of CYFIP2 in patients with early infantile epileptic encephalopathy (EIEE), clearly implicating CYFIP2 dysfunction in neurological disorders. In this review, we highlight these recent investigations into the neuronal function and dysfunction of CYFIP2, and also discuss several key questions remaining about this intriguing neuronal protein.
Abstract
The cytoplasmic FMR1-interacting protein family (CYFIP1 and CYFIP2) are evolutionarily conserved proteins originally identified as binding partners of the fragile X mental retardation protein (FMRP), a messenger RNA (mRNA)-binding protein whose loss causes the fragile X syndrome. Moreover, CYFIP is a key component of the heteropentameric WAVE regulatory complex (WRC), a critical regulator of neuronal actin dynamics. Therefore, CYFIP may play key roles in regulating both mRNA translation and actin polymerization, which are critically involved in proper neuronal development and function. Nevertheless, compared to CYFIP1, neuronal function and dysfunction of CYFIP2 remain largely unknown, possibly due to the relatively less well established association between CYFIP2 and brain disorders. Despite high amino acid sequence homology between CYFIP1 and CYFIP2, several in vitro and animal model studies have suggested that CYFIP2 has some unique neuronal functions distinct from those of CYFIP1. Furthermore, recent whole-exome sequencing studies identified de novo hot spot variants of CYFIP2 in patients with early infantile epileptic encephalopathy (EIEE), clearly implicating CYFIP2 dysfunction in neurological disorders. In this review, we highlight these recent investigations into the neuronal function and dysfunction of CYFIP2, and also discuss several key questions remaining about this intriguing neuronal protein.
참고문헌 (60)
- Marin O, "Guiding neuronal cell migrations", Cold Spring Harbor Persp Biol, 2, pp.a001834~ (2010)
- Kevenaar JT, "The axonal cytoskeleton : from organization to function", Front Mol Neurosci, 8, pp.44~ (2015)
- Spence EF, "Actin out : regulation of the synaptic cytoskeleton", J Biol Chem, 290, pp.28613~28622 (2015)
- Yan Z, "Synaptic actin dysregulation, a convergent mechanism of mental disorders?", J Neurosci, 36, pp.11411~11417 (2016)
- 최수연, "Emerging role of synaptic actin-regulatory pathway in the pathophysiology of mood disorders", Animal Cells and Systems, 19(5), pp.283~288 (2015), 한국통합생물학회[DOI]
- Penzes P, "Dendritic spine pathology in neuropsychiatric disorders", Nat Neurosci, 14, pp.285~293 (2011)
- Takenawa T, "The WASP-WAVE protein network : connecting the membrane to the cytoskeleton. Nature reviews", Mol Cell Biol, 8, pp.37~48 (2007)
- Chen Z, "Structure and control of the actin regulatory WAVE complex", Nature, 468, pp.533~538 (2010)
- Mendoza MC, "Phosphoregulation of the WAVE regulatory complex and signal integration", Semin Cell Develop Biol, 24, pp.272~279 (2013)
- Krause M, "Steering cell migration : lamellipodium dynamics and the regulation of directional persistence", Nat Rev Mol Cell Biol, 15, pp.577~590 (2014)
- Lee Y, "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", Neuroreport, 28, pp.749~754 (2017)
- Schenck A, "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", Proc Natl Acad Sci U S A, 98, pp.8844~8849 (2001)
- Bagni C, "Fragile X syndrome : causes, diagnosis, mechanisms, and therapeutics", J Clin Invest, 122, pp.4314~4322 (2012)
- Napoli I, "The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP", Cell, 134, pp.1042~1054 (2008)
- De Rubeis S, "CYFIP1coordinates mRNA translation and cytoskeleton remodeling to ensure proper dendritic spine formation", Neuron, 79, pp.1169~1182 (2013)
- Abekhoukh S, "CYFIP family proteins between autism and intellectual disability : links with Fragile X syndrome", Front Cellular Neurosci, 8, pp.81~ (2014)
- Yoon KJ, "Modeling a genetic risk for schizophrenia in iPSCs and mice reveals neural stem cell deficits associated with adherens junctions and polarity", Cell Stem Cell, 15, pp.79~91 (2014)
- Oguro-Ando A, "Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTOR", Mol Psychi, 20, pp.1069~1078 (2015)
- Bozdagi O, "Haploinsufficiency of Cyfip1produces fragile X-like phenotypes in mice", PloS one, 7, pp.e42422~ (2012)
- Chung L, "Parental origin impairment of synaptic functions and behaviors in cytoplasmic FMRP interacting protein 1(Cyfip1)deficient mice", Brain Res, 1629, pp.340~350 (2015)
- Kumar V, "C57BL", 6N mutation in cytoplasmic FMRP interacting protein 2regulates cocaine response, 2013, pp.342, 1508~1512
- Han K, "Fragile X-like behaviors and abnormal cortical dendritic spines in cytoplasmic FMR1-interacting protein 2-mutant mice", Human Mol Gen, 24, pp.1813~1823 (2015)
- Zhang Y, "Smaller body size, early postnatal lethality, and cortical extracellular matrix-related gene expression changes of Cyfip2-null embryonic mice", Front Mol Neurosci, 11, pp.482~ (2019)
- Nakashima M, "De Novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy", Ann Neurol, 83, pp.794~806 (2018)
- Peng J, "Novel west syndrome candidate genes in a Chinese cohort", CNS Neurosci Ther, 24, pp.1196~1206 (2018)
- Pathania M, "The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines", Translational Psychiatry, 4, pp.e374~ (2014)
- Sala C, "Dendritic spines : the locus of structural and functional plasticity", Physiological Reviews, 94, pp.141~188 (2014)
- Collins MO, "Molecular characterization and comparison of the components and multiprotein complexes in the postsynaptic proteome", J Neurochem, 97(Suppl 1), pp.16~23 (2006)
- Bayes A, "Characterization of the proteome, diseases and evolution of the human postsynaptic density", Nat Neurosci, 14, pp.19~21 (2011)
- Li J, "Spatiotemporal profile of postsynaptic interactomes integrates components of complex brain disorders", Nat Neurosci, 20, pp.1150~1161 (2017)
- Han K, "SHANK3overexpression causes manic-like behaviour with unique pharmacogenetic properties", Nature, 503, pp.72~77 (2013)
- Huttlin EL, "A tissue-specific atlas of mouse protein phosphorylation and expression", Cell, 143, pp.1174~1189 (2010)
- Schenck A, "CYFIP", Sra-1 controls neuronal connectivity in drosophila and links the Rac1 GTPase pathway to the fragile X protein, 2003, pp.38, 887~898
- Pan L, "The Drosophila fragile X gene negatively regulates neuronal elaboration and synaptic differentiation", Curr Biol, 14, pp.1863~1870 (2004)
- Abekhoukh S, "New insights into the regulatory function of CYFIP1 in the context of WAVE-and FMRP-containing complexes", Dis Mod Mech, 10, pp.463~474 (2017)
- Zhao L, "Drosophila cyfip regulates synaptic development and endocytosis by suppressing filamentous actin assembly", PLoS Genetics, 9, pp.e1003450~ (2013)
- Trowe T, "Mutations disrupting the ordering and topographic mapping of axons in the retinotectal projection of the zebrafish, Danio rerio", Development, 123, pp.439~450 (1996)
- Baier H, "Genetic dissection of the retinotectal projection", Development, 123, pp.415~425 (1996)
- Pittman AJ, "nev(cyfip2)is required for retinal lamination and axon guidance in the zebrafish retinotectal system", Develop Biol, 344, pp.784~794 (2010)
- Cioni JM, "Axon-axon interactions regulate topographic optic tract sorting via CYFIP2-dependent WAVE complex function", Neuron, 97, pp.1078~1093 (2018)[DOI]
- Marsden KC, "A Cyfip2-Dependent Excitatory Interneuron Pathway Establishes the Innate Startle Threshold", Cell Rep, 23, pp.878~887 (2018)
- Kirkpatrick SL, "Cytoplasmic FMR1-Interacting protein 2 is a major genetic factor underlying binge eating", Biological Psychiatry, 81, pp.757~769 (2017)
- Keane TM, "Mouse genomic variation and its effect on phenotypes and gene regulation", Nature, 477, pp.289~294 (2011)
- Chen B, "Rac1GTPase activates the WAVE regulatory complex through two distinct binding sites", eLife, 6, pp.e29795~ (2017)
- Darnell JC, "FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism", Cell, 146, pp.247~261 (2011)
- Jin Hwan Lee, "Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation", Clinical and Experimental Pediatrics, 59, pp.19~24 (2016), 대한소아청소년과학회
- Spranger S, "Interstitial deletion of 5q33. 3q35. 1 in a girl with mild mental retardation", Am J Med Genet, 93, pp.107~109 (2000)
- Focking M, "Proteomic and genomic evidence implicates the postsynaptic density in schizophrenia", Mol Psych, 20, pp.424~432 (2015)
- Tiwari SS, "Alzheimerrelated decrease in CYFIP2 links amyloid production to tau hyperphosphorylation and memory loss", Brain : J Neurol, 139, pp.2751~2765 (2016)
- Gursoy S, "Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy", J Child Neurol, 31, pp.523~532 (2016)
- McTague A, "The genetic landscape of the epileptic encephalopathies of infancy and childhood", Lancet Neurol, 15, pp.304~316 (2016)
- Bonaccorso CM, "Fragile X mental retardation protein(FMRP)interacting proteins exhibit different expression patterns during development", Int J Devel Neurosci, 42, pp.15~23 (2015)
- Zhang Y, "An RNA-sequencing transcriptome and splicing database of glia, neurons, and vascular cells of the cerebral cortex", J Neurosci, 34, pp.11929~11947 (2014)
- Bassell GJ, "Fragile X syndrome : loss of local mRNA regulation alters synaptic development and function", Neuron, 60, pp.201~214 (2008)
- Cajigas IJ, "The local transcriptome in the synaptic neuropil revealed by deep sequencing and high-resolution imaging", Neuron, 74, pp.453~466 (2012)
- Nelson SB, "Excitatory", Inhibitory balance and circuit homeostasis in autism spectrum disorders, 2015, pp.87, 684~698
- 이연금, "Excitatory and inhibitory synaptic dysfunction in mania: an emerging hypothesis from animal model studies", Experimental and Molecular Medicine, 50, pp.1~11 (2018), 생화학분자생물학회
- Hsiao K, "Cyfip1 Regulates Presynaptic Activity during Development", J Neurosci, 36, pp.1564~1576 (2016)
- Chen B, "The WAVE regulatory complex links diverse receptors to the actin cytoskeleton", Cell, 156, pp.195~207 (2014)
- Contractor A, "altered neuronal and circuit excitability in fragile X syndrome", Neuron, 87, pp.699~715 (2015)