References
- Abrahams, B.S., and Geschwind, D.H. (2008). Advances in autism genetics: on the threshold of a new neurobiology. Nat. Rev. Genet. 9, 341-355. https://doi.org/10.1038/nrg2346
- Amaral, D.G., Schumann, C.M., and Nordahl, C.W. (2008). Neuroanatomy of autism. Trends Neurosci. 31, 137-145. https://doi.org/10.1016/j.tins.2007.12.005
- Ansa-Addo, E.A., Thaxton, J., Hong, F., Wu, B.X., Zhang, Y., Fugle, C.W., Metelli, A., Riesenberg, B., Williams, K., Gewirth, D.T., et al. (2016). Clients and oncogenic roles of molecular chaperone gp96/grp94. Curr. Top Med. Chem. 16, 2765-2778. https://doi.org/10.2174/1568026616666160413141613
- Arnold, S.E. (1999). Neurodevelopmental abnormalities in schizophrenia: insights from neuropathology. Dev. Psychopathol. 11, 439-456. https://doi.org/10.1017/S095457949900214X
- Atwood, H., Govind, C., and Wu, C.F. (1993). Differential ultrastructure of synaptic terminals on ventral longitudinal abdominal muscles in Drosophila larvae. J. Neurobiol. 24, 1008-1024. https://doi.org/10.1002/neu.480240803
- Banerjee, S., Venkatesan, A., and Bhat, M.A. (2016). Neurexin, Neuroligin and Wishful Thinking coordinate synaptic cytoarchite- cture and growth at neuromuscular junctions. Mol. Cell Neurosci. 78, 9-24.
- Bauman, M.L., and Kemper, T.L. (2005). Neuroanatomic observations of the brain in autism: a review and future directions. Int. J. Dev. Neurosci. 23, 183-187. https://doi.org/10.1016/j.ijdevneu.2004.09.006
- Beck, E.S., Gasque, G., Imlach, W.L., Jiao, W., Choi, B.J., Wu, P.-S., Kraushar, M.L., and McCabe, B.D. (2012). Regulation of Fasciclin II and synaptic terminal development by the splicing factor beag. J. Neurosci. 32, 7058-7073. https://doi.org/10.1523/JNEUROSCI.3717-11.2012
- Betancur, C., Sakurai, T., and Buxbaum, J.D. (2009). The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders. Trends Neurosci. 32, 402-412. https://doi.org/10.1016/j.tins.2009.04.003
- Biggs, W.H., and Zipursky, S.L. (1992). Primary structure, expression, and signal-dependent tyrosine phosphorylation of a Drosophila homolog of extracellular signal-regulated kinase. Proc. Natl. Acad. Sci. USA 89, 6295-6299. https://doi.org/10.1073/pnas.89.14.6295
- Blaker-Lee, A., Gupta, S., McCammon, J.M., De Rienzo, G., and Sive, H. (2012). Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes. Dis. Model. Mech. 5, 834-851. https://doi.org/10.1242/dmm.009944
- Blanchard, D.A., Mouhamad, S., Auffredou, M.-T., Pesty, A., Bertoglio, J., Leca, G., and Vazquez, A. (2000). Cdk2 associates with MAP kinase in vivo and its nuclear translocation is dependent on MAP kinase activation in IL-2-dependent Kit 225 T lymphocytes. Oncogene 19, 4184-4189. https://doi.org/10.1038/sj.onc.1203761
- Boulton, T.G., and Cobb, M.H. (1991). Identification of multiple extracellular signal-regulated kinases (ERKs) with antipeptide antibodies. Cell Regul. 2, 357-371. https://doi.org/10.1091/mbc.2.5.357
- Boulton, T.G., Nye, S.H., Robbins, D.J., Ip, N.Y., Radziejewska, E., Morgenbesser, S.D., DePinho, R.A., Panayotatos, N., Cobb, M.H., and Yancopoulos, G.D. (1991). ERKs: a family of proteinserine/threonine kinases that are activated and tyrosine phosphorylated in response to insulin and NGF. Cell 65, 663-675. https://doi.org/10.1016/0092-8674(91)90098-J
- Bourgeron, T. (2015). From the genetic architecture to synaptic plasticity in autism spectrum disorder. Nat Rev Neurosci 16, 551-563. https://doi.org/10.1038/nrn3992
- Brand, A.H., and Perrimon, N. (1993). Targeted gene expression as a means of altering cell fates and generating dominant phenotypes. Development 118, 401-415.
- Chen, J., Yu, S., Fu, Y., and Li, X. (2014). Synaptic proteins and receptors defects in autism spectrum disorders. Front. Cell. Neurosci. 8, 276.
- Christensen, R., Shao, Z., and Colon-Ramos, D.A. (2013). The cell biology of synaptic specificity during development. Curr. Opin. Neurobiol. 23, 1018-1026. https://doi.org/10.1016/j.conb.2013.07.004
- Courchesne, E., Mouton, P.R., Calhoun, M.E., Semendeferi, K., Ahrens-Barbeau, C., Hallet, M.J., Barnes, C.C., and Pierce, K. (2011). Neuron number and size in prefrontal cortex of children with autism. JAMA 306, 2001-2010. https://doi.org/10.1001/jama.2011.1638
- Ecker, C., Suckling, J., Deoni, S.C., Lombardo, M.V., Bullmore, E.T., Baron-Cohen, S., Catani, M., Jezzard, P., Barnes, A., Bailey, A.J., et al. (2012). Brain anatomy and its relationship to behavior in adults with autism spectrum disorder: a multicenter magnetic resonance imaging study. Arch. Gen. Psychiatry 69, 195-209. https://doi.org/10.1001/archgenpsychiatry.2011.1251
- Friedman, A.A., Tucker, G., Singh, R., Yan, D., Vinayagam, A., Hu, Y., Binari, R., Hong, P., Sun, X., and Porto, M. (2011). Proteomic and functional genomic landscape of receptor tyrosine kinase and ras to extracellular signal-regulated kinase signaling. Sci. Signal. 4, rs10.
- Golzio, C., Willer, J., Talkowski, M.E., Oh, E.C., Taniguchi, Y., Jacquemont, S., Reymond, A., Sun, M., Sawa, A., and Gusella, J.F. (2012). KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11. 2 copy number variant. Nature 485, 363-367. https://doi.org/10.1038/nature11091
- Gorczyca, M., Augart, C., and Budnik, V. (1993). Insulin-like receptor and insulin-like peptide are localized at neuromuscular junctions in Drosophila. J. Neurosci. 13, 3692-3704. https://doi.org/10.1523/JNEUROSCI.13-09-03692.1993
- Gramates, L.S., and Budnik, V. (1999). Assembly and maturation of the Drosophila larval neuromuscular junction. Int. Rev. Neurobiol. 43, 93-117. https://doi.org/10.1016/S0074-7742(08)60542-5
- Gregorio, S.P., Sallet, P.C., Do, K.A., Lin, E., Gattaz, W.F., and Dias-Neto, E. (2009). Polymorphisms in genes involved in neurodevelopment may be associated with altered brain morphology in schizophrenia: preliminary evidence. Psychiatry Res 165, 1-9. https://doi.org/10.1016/j.psychres.2007.08.011
- Henry, S., Pfenninger, K.H., Mott, J.L., and Granholm, A.-C. (1999). Anatomical distribution of glycoprotein 93 (gp93) on nerve fibers during rat brain development. Cell Tissue Res. 297, 67-79. https://doi.org/10.1007/s004410051334
- Hernandez, R., Garcia, F., Encio, I., and De Miguel, C. (2004). Promoter analysis of the human p44 mitogen-activated protein kinase gene (MAPK3): transcriptional repression under nonproliferating conditions. Genomics 84, 222-226. https://doi.org/10.1016/j.ygeno.2004.01.012
- Hoang, B., and Chiba, A. (2001). Single-cell analysis of Drosophila larval neuromuscular synapses. Dev. Biol. 229, 55-70. https://doi.org/10.1006/dbio.2000.9983
- Horev, G., Ellegood, J., Lerch, J.P., Son, Y.-E.E., Muthuswamy, L., Vogel, H., Krieger, A.M., Buja, A., Henkelman, R.M., and Wigler, M. (2011). Dosage-dependent phenotypes in models of 16p11. 2 lesions found in autism. Proc. Natl. Acad. Sci. USA 108, 17076-17081. https://doi.org/10.1073/pnas.1114042108
- Jacobson, J.D., Ellerbeck, K.A., Kelly, K.A., Fleming, K.K., Jamison, T.R., Coffey, C.W., Smith, C.M., Reese, R.M., and Sands, S.A. (2014). Evidence for alterations in stimulatory G proteins and oxytocin levels in children with autism. Psychoneuroendocrinology 40, 159-169. https://doi.org/10.1016/j.psyneuen.2013.11.014
- Johansen, J., Halpern, M.E., Johansen, K.M., and Keshishian, H. (1989). Stereotypic morphology of glutamatergic synapses on identified muscle cells of Drosophila larvae. J. Neurosci. 9, 710-725. https://doi.org/10.1523/JNEUROSCI.09-02-00710.1989
- John, J.P., Thirunavukkarasu, P., Halahalli, H.N., Purushottam, M., and Jain, S. (2015). A systematic review of the effect of genes mediating neurodevelopment and neurotransmission on brain morphology: Focus on schizophrenia. Neurol. Psychiatry Brain Res. 21, 1-26. https://doi.org/10.1016/j.npbr.2014.11.003
- Kamiya, A., Kubo, K., Tomoda, T., Takaki, M., Youn, R., Ozeki, Y., Sawamura, N., Park, U., Kudo, C., Okawa, M., et al. (2005). A schizophrenia-associated mutation of DISC1 perturbs cerebral cortex development. Nat. Cell Biol. 7, 1167-1178. https://doi.org/10.1038/ncb1328
- Koh, Y.-H., Gorczyca, M., and Budnik, V. (2002). The Ras1-Mitogen-Activated Protein Kinase Signal Transduction Pathway Regulates Synaptic Plasticity through Fasciclin II-Mediated Cell Adhesion. J. Neurosci. 22, 2496-2504. https://doi.org/10.1523/JNEUROSCI.22-07-02496.2002
- Kolomeets, N.S., Orlovskaya, D.D., Rachmanova, V.I., and Uranova, N.A. (2005). Ultrastructural alterations in hippocampal mossy fiber synapses in schizophrenia: a postmortem morphometric study. Synapse 57, 47-55. https://doi.org/10.1002/syn.20153
- Kumar, R.A., KaraMohamed, S., Sudi, J., Conrad, D.F., Brune, C., Badner, J.A., Gilliam, T.C., Nowak, N.J., Cook, E.H., and Dobyns, W.B. (2008). Recurrent 16p11. 2 microdeletions in autism. Hum. Mol. Genet. 17, 628-638.
- Law, A.J., Weickert, C.S., Hyde, T.M., Kleinman, J.E., and Harrison, P.J. (2014). Reduced spinophilin but not microtubule-associated protein 2 expression in the hippocampal formation in schizophrenia and mood disorders: molecular evidence for a pathology of dendritic spines. Am. J. Psychiatry 161, 1848-1855.
-
Lee, J., and Wu, C.F. (2010). Orchestration of stepwise synaptic growth by
$K^+$ and$Ca^{2+}$ channels in Drosophila. J. Neurosci. 30, 15821-15833. https://doi.org/10.1523/JNEUROSCI.3448-10.2010 - Levitt, P., Ebert, P., Mirnics, K., Nimgaonkar, V.L., and Lewis, D.A. (2006). Making the case for a candidate vulnerability gene in schizophrenia: Convergent evidence for regulator of G-protein signaling 4 (RGS4). Biol. Psychiatry 60, 534-537. https://doi.org/10.1016/j.biopsych.2006.04.028
- Li, H., Quiroga, S., and Pfenninger, K.H. (1992). Variable membrane glycoproteins in different growth cone populations. J. Neurosci. 12, 2393-2402. https://doi.org/10.1523/JNEUROSCI.12-06-02393.1992
- Lin, D.M., Fetter, R.D., Kopczynski, C., Grenningloh, G., and Goodman, C.S. (1994). Genetic analysis of Fasciclin II in Drosophila: defasciculation, refasciculation, and altered fasciculation. Neuron 13, 1055-1069. https://doi.org/10.1016/0896-6273(94)90045-0
-
Livak, K.J., and Schmittgen, T.D. (2001). Analysis of relative gene expression data using real-time quantitative PCR and the 2-
${\Delta}{\Delta}CT$ method. Methods 25, 402-408. https://doi.org/10.1006/meth.2001.1262 - Marshall, C.R., Noor, A., Vincent, J.B., Lionel, A.C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., and Ren, Y. (2008). Structural variation of chromosomes in autism spectrum disorder. Am. J. Hum. Genet. 82, 477-488. https://doi.org/10.1016/j.ajhg.2007.12.009
- Menon, K.P., Carrillo, R.A., and Zinn, K. (2013). Development and plasticity of the Drosophila larval neuromuscular junction. Wiley Interdiscip Rev. Dev. Biol. 2, 647-670. https://doi.org/10.1002/wdev.108
- Miyazaki, T., Hashimoto, K., Uda, A., Sakagami, H., Nakamura, Y., Saito, S.-y., Nishi, M., Kume, H., Tohgo, A., and Kaneko, I. (2006). Disturbance of cerebellar synaptic maturation in mutant mice lacking BSRPs, a novel brain-specific receptor-like protein family. FEBS Lett. 580, 4057-4064. https://doi.org/10.1016/j.febslet.2006.06.043
- Park, S.M., Littleton, J.T., Park, H.R., and Lee, J.H. (2016). Drosophila Homolog of Human KIF22 at the Autism-Linked 16p11.2 Loci influences synaptic connectivity at larval neuromuscular junctions. Exp. Neurobiol. 25, 33-39. https://doi.org/10.5607/en.2016.25.1.33
- Portmann, T., Yang, M., Mao, R., Panagiotakos, G., Ellegood, J., Dolen, G., Bader, P.L., Grueter, Brad A., Goold, C., Fisher, E., et al. (2014). Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome. Cell Rep. 7, 1077-1092. https://doi.org/10.1016/j.celrep.2014.03.036
- Pucilowska, J., Vithayathil, J., Tavares, E.J., Kelly, C., Karlo, J.C., and Landreth, G.E. (2015). The 16p11. 2 deletion mouse model of autism exhibits altered cortical progenitor proliferation and brain cytoarchitecture linked to the ERK MAPK pathway. J. Neurosci. 35, 3190-3200. https://doi.org/10.1523/JNEUROSCI.4864-13.2015
- Redies, C., Hertel, N., and Hubner, C.A. (2012). Cadherins and neuropsychiatric disorders. Brain Res. 1470, 130-144. https://doi.org/10.1016/j.brainres.2012.06.020
- Reiss, A.L., Feinstein, C., and Rosenbaum, K.N. (1986). Autism and genetic disorders. Schizophrenia Bull. 12, 724. https://doi.org/10.1093/schbul/12.4.724
- Sanchez-Fernandez, G., Cabezudo, S., Garcia-Hoz, C., Beninca, C., Aragay, A.M., Mayor, F., Jr., and Ribas, C. (2014). Galphaq signalling: the new and the old. Cell Signal. 26, 833-848. https://doi.org/10.1016/j.cellsig.2014.01.010
- Schuster, C.M., Davis, G.W., Fetter, R.D., and Goodman, C.S. (1996a). Genetic dissection of structural and functional components of synaptic plasticity. I. Fasciclin II controls synaptic stabilization and growth. Neuron 17, 641-654. https://doi.org/10.1016/S0896-6273(00)80197-X
- Schuster, C.M., Davis, G.W., Fetter, R.D., and Goodman, C.S. (1996b). Genetic dissection of structural and functional components of synaptic plasticity. II. Fasciclin II controls presynaptic structural plasticity. Neuron 17, 655-667. https://doi.org/10.1016/S0896-6273(00)80198-1
- Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., and Kendall, J. (2007). Strong association of de novo copy number mutations with autism. Science 316, 445-449. https://doi.org/10.1126/science.1138659
- Steen, R.G., Mull, C., McClure, R., Hamer, R.M., and Lieberman, J.A. (2006). Brain volume in first-episode schizophrenia: systematic review and meta-analysis of magnetic resonance imaging studies. Br. J. Psychiatry 188, 510-518. https://doi.org/10.1192/bjp.188.6.510
- Stockmeier, C.A., Mahajan, G.J., Konick, L.C., Overholser, J.C., Jurjus, G.J., Meltzer, H.Y., Uylings, H.B.M., Friedman, L., and Rajkowska, G. (2004). Cellular changes in the postmortem hippocampus in major depression. Biol. Psychiatry 56, 640-650. https://doi.org/10.1016/j.biopsych.2004.08.022
- Sweatt, J.D. (2001). The neuronal MAP kinase cascade: a biochemical signal integration system subserving synaptic plasticity and memory. J. Neurochem. 76, 1-10.
- Tessier-Lavigne, M., and Goodman, C.S. (1996). The molecular biology of axon guidance. Science 274, 1123-1133. https://doi.org/10.1126/science.274.5290.1123
- Tsai, L.H., Lees, E., Faha, B., Harlow, E., and Riabowol, K. (1993). The cdk2 kinase is required for the G1-to-S transition in mammalian cells. Oncogene 8, 1593-1602.
- Vithayathil, J., Pucilowska, J., Goodnough, L.H., Atit, R.P., and Landreth, G.E. (2015). Dentate gyrus development requires ERK activity to maintain progenitor population and MAPK pathway feedback regulation. J. Neurosci. 35, 6836-6848. https://doi.org/10.1523/JNEUROSCI.4196-14.2015
- Wang, B., Gao, Y., Xiao, Z., Chen, B., Han, J., Zhang, J., Wang, X., and Dai, J. (2009). Erk1/2 promotes proliferation and inhibits neuronal differentiation of neural stem cells. Neurosci. Lett. 461, 252-257. https://doi.org/10.1016/j.neulet.2009.06.020
- Weiss, L.A., Shen, Y., Korn, J.M., Arking, D.E., Miller, D.T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M.A., and Green, T. (2008). Association between microdeletion and microduplication at 16p11. 2 and autism. N Engl. J. Med. 358, 667-675. https://doi.org/10.1056/NEJMoa075974
- Yoshida, T., McCarley, R.W., Nakamura, M., Lee, K., Koo, M.-S., Bouix, S., Salisbury, D.F., Morra, L., Shenton, M.E., and Niznikiewicz, M.A. (2009). A prospective longitudinal volumetric MRI study of superior temporal gyrus gray matter and amygdala-hippocampal complex in chronic schizophrenia. Schizophrenia Res. 113, 84-94. https://doi.org/10.1016/j.schres.2009.05.004
- Zoghbi, H.Y., and Bear, M.F. (2012). Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. Cold Spring Harb Perspect Biol. 4.
피인용 문헌
- Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity vol.51, pp.1, 2017, https://doi.org/10.1038/s41588-018-0288-4
- Atypical neural variability in carriers of 16p11.2 copy number variants vol.12, pp.9, 2019, https://doi.org/10.1002/aur.2166
- Autism Spectrum Disorder-Related Syndromes: Modeling with Drosophila and Rodents vol.20, pp.17, 2017, https://doi.org/10.3390/ijms20174071
- Current Neuropharmacological Interventions in Autism: Potential Drug Targets from Pre-clinical and Clinical Findings vol.9, pp.None, 2020, https://doi.org/10.2174/1389203721999200820165117
- Identification of De Novo JAK2 and MAPK7 Mutations Related to Autism Spectrum Disorder Using Whole-Exome Sequencing in a Chinese Child and Adolescent Trio-Based Sample vol.70, pp.2, 2017, https://doi.org/10.1007/s12031-019-01456-z