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Volumn 109, Issue 44, 2012, Pages 18120-18125

Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development

Author keywords

Dendrite; Synaptogenesis

Indexed keywords

CELL ADHESION MOLECULE; PROTEIN CASPR1; PROTEIN CASPR2; PROTEIN CASPR3; PROTEIN SEZ6; PROTEIN SEZ6L; PROTEIN SEZ6L2; UNCLASSIFIED DRUG;

EID: 84868121906     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1216398109     Document Type: Article
Times cited : (178)

References (45)
  • 1
    • 79960969643 scopus 로고    scopus 로고
    • Links between genetics and pathophysiology in the autism spectrum disorders
    • Holt R, Monaco AP (2011) Links between genetics and pathophysiology in the autism spectrum disorders. EMBO Mol Med 3(8):438-450.
    • (2011) EMBO Mol Med , vol.3 , Issue.8 , pp. 438-450
    • Holt, R.1    Monaco, A.P.2
  • 2
    • 82255192290 scopus 로고    scopus 로고
    • The conundrums of understanding genetic risks for autism spectrum disorders
    • State MW, Levitt P (2011) The conundrums of understanding genetic risks for autism spectrum disorders. Nat Neurosci 14(12):1499-1506.
    • (2011) Nat Neurosci , vol.14 , Issue.12 , pp. 1499-1506
    • State, M.W.1    Levitt, P.2
  • 3
    • 33746314832 scopus 로고    scopus 로고
    • Searching for ways out of the autism maze: Genetic, epigenetic and environmental clues
    • Persico AM, Bourgeron T (2006) Searching for ways out of the autism maze: Genetic, epigenetic and environmental clues. Trends Neurosci 29(7):349-358.
    • (2006) Trends Neurosci , vol.29 , Issue.7 , pp. 349-358
    • Persico, A.M.1    Bourgeron, T.2
  • 4
    • 84858077787 scopus 로고    scopus 로고
    • What does CNTNAP2 reveal about autism spectrum disorder
    • Peñagarikano O, Geschwind DH (2012) What does CNTNAP2 reveal about autism spectrum disorder? Trends Mol Med 18(3):156-163
    • (2012) Trends Mol Med , vol.18 , Issue.3 , pp. 156-163
    • Peñagarikano, O.1    Geschwind, D.H.2
  • 5
    • 39449121016 scopus 로고    scopus 로고
    • CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
    • Friedman JI, et al. (2008) CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. Mol Psychiatry 13(3):261-266.
    • (2008) Mol Psychiatry , vol.13 , Issue.3 , pp. 261-266
    • Friedman, J.I.1
  • 6
    • 77956628767 scopus 로고    scopus 로고
    • Genome-wide copy number variation in epilepsy: Novel susceptibility loci in idiopathic generalized and focal epilepsies
    • Mefford HC, et al. (2010) Genome-wide copy number variation in epilepsy: Novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet 6(5):e1000962.
    • (2010) PLoS Genet , vol.6 , Issue.5
    • Mefford, H.C.1
  • 7
    • 33645415686 scopus 로고    scopus 로고
    • Recessive symptomatic focal epilepsy and mutant contactinassociated protein-like 2
    • Strauss KA, et al. (2006) Recessive symptomatic focal epilepsy and mutant contactinassociated protein-like 2. N Engl J Med 354(13):1370-1377.
    • (2006) N Engl J Med , vol.354 , Issue.13 , pp. 1370-1377
    • Strauss, K.A.1
  • 8
    • 34249722774 scopus 로고    scopus 로고
    • Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome
    • Belloso JM, et al. (2007) Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome. Eur J Hum Genet 15(6): 711-713.
    • (2007) Eur J Hum Genet , vol.15 , Issue.6 , pp. 711-713
    • Belloso, J.M.1
  • 9
    • 0038278610 scopus 로고    scopus 로고
    • CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder
    • Tourette Syndrome Association International Consortium for Genetics
    • Verkerk AJ, et al.; Tourette Syndrome Association International Consortium for Genetics (2003) CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. Genomics 82(1):1-9.
    • (2003) Genomics , vol.82 , Issue.1 , pp. 1-9
    • Verkerk, A.J.1
  • 10
    • 78549252909 scopus 로고    scopus 로고
    • Molecular pathways involved in neuronal cell-adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility
    • O'Dushlaine C, et al. (2011) Molecular pathways involved in neuronal cell-adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility. Mol Psychiatry 16(3):286-292.
    • (2011) Mol Psychiatry , vol.16 , Issue.3 , pp. 286-292
    • O'Dushlaine, C.1
  • 11
    • 77952887857 scopus 로고    scopus 로고
    • Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes
    • Elia J, et al. (2010) Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Mol Psychiatry 15(6):637-646.
    • (2010) Mol Psychiatry , vol.15 , Issue.6 , pp. 637-646
    • Elia, J.1
  • 12
    • 72149095158 scopus 로고    scopus 로고
    • CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt- Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila
    • Zweier C, et al. (2009) CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt- Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am J Hum Genet 85(5):655-666.
    • (2009) Am J Hum Genet , vol.85 , Issue.5 , pp. 655-666
    • Zweier, C.1
  • 13
    • 78649671271 scopus 로고    scopus 로고
    • Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features
    • Sehested LT, et al. (2010) Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features. Am J Med Genet A 152A(12):3115-3119.
    • (2010) Am J Med Genet A , vol.152 , Issue.12 A , pp. 3115-3119
    • Sehested, L.T.1
  • 14
    • 57149090343 scopus 로고    scopus 로고
    • A functional genetic link between distinct developmental language disorders
    • Vernes SC, et al. (2008) A functional genetic link between distinct developmental language disorders. N Engl J Med 359(22):2337-2345.
    • (2008) N Engl J Med , vol.359 , Issue.22 , pp. 2337-2345
    • Vernes, S.C.1
  • 15
    • 77957904400 scopus 로고    scopus 로고
    • Genetic advances in the study of speech and language disorders
    • Newbury DF, Monaco AP (2010) Genetic advances in the study of speech and language disorders. Neuron 68(2):309-320.
    • (2010) Neuron , vol.68 , Issue.2 , pp. 309-320
    • Newbury, D.F.1    Monaco, A.P.2
  • 16
    • 78649665537 scopus 로고    scopus 로고
    • Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case
    • Petrin AL, et al. (2010) Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case. Am J Med Genet A 152A(12): 3164-3172.
    • (2010) Am J Med Genet A , vol.A152 , Issue.12 , pp. 3164-3172
    • Petrin, A.L.1
  • 17
    • 77956225035 scopus 로고    scopus 로고
    • Normal variation in fronto-occipital circuitry and cerebellar structure with an autism-associated polymorphism of CNTNAP2
    • Tan GC, Doke TF, Ashburner J, Wood NW, Frackowiak RS (2010) Normal variation in fronto-occipital circuitry and cerebellar structure with an autism-associated polymorphism of CNTNAP2. Neuroimage 53(3):1030-1042.
    • (2010) Neuroimage , vol.53 , Issue.3 , pp. 1030-1042
    • Tan, G.C.1    Doke, T.F.2    Ashburner, J.3    Wood, N.W.4    Frackowiak, R.S.5
  • 18
    • 78149301263 scopus 로고    scopus 로고
    • Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2
    • Scott-Van Zeeland AA, et al. (2010) Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2. Sci Transl Med 2(56):56ra80.
    • (2010) Sci Transl Med , vol.2 , Issue.56
    • Scott-Van Zeeland, A.A.1
  • 19
    • 0033396331 scopus 로고    scopus 로고
    • Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels
    • Poliak S, et al. (1999) Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels. Neuron 24(4):1037-1047.
    • (1999) Neuron , vol.24 , Issue.4 , pp. 1037-1047
    • Poliak, S.1
  • 20
    • 54049091941 scopus 로고    scopus 로고
    • Neuroligins and neurexins link synaptic function to cognitive disease
    • Südhof TC (2008) Neuroligins and neurexins link synaptic function to cognitive disease. Nature 455(7215):903-911.
    • (2008) Nature , vol.455 , Issue.7215 , pp. 903-911
    • Südhof, T.C.1
  • 21
    • 79958074870 scopus 로고    scopus 로고
    • Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism
    • Sanders SJ, et al. (2011) Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 70(5):863-885.
    • (2011) Neuron , vol.70 , Issue.5 , pp. 863-885
    • Sanders, S.J.1
  • 22
    • 38749084216 scopus 로고    scopus 로고
    • Disruption of neurexin 1 associated with autism spectrum disorder
    • Kim HG, et al. (2008) Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet 82(1):199-207.
    • (2008) Am J Hum Genet , vol.82 , Issue.1 , pp. 199-207
    • Kim, H.G.1
  • 23
    • 79958032110 scopus 로고    scopus 로고
    • Rare de novo and transmitted copy-number variation in autistic spectrum disorders
    • Levy D, et al. (2011) Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron 70(5):886-897.
    • (2011) Neuron , vol.70 , Issue.5 , pp. 886-897
    • Levy, D.1
  • 24
    • 0033749676 scopus 로고    scopus 로고
    • Molecular domains of myelinated axons
    • Peles E, Salzer JL (2000) Molecular domains of myelinated axons. Curr Opin Neurobiol 10(5):558-565.
    • (2000) Curr Opin Neurobiol , vol.10 , Issue.5 , pp. 558-565
    • Peles, E.1    Salzer, J.L.2
  • 26
    • 80053540965 scopus 로고    scopus 로고
    • Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits
    • Peñagarikano O, et al. (2011) Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. Cell 147(1):235-246.
    • (2011) Cell , vol.147 , Issue.1 , pp. 235-246
    • Peñagarikano, O.1
  • 27
    • 0141433266 scopus 로고    scopus 로고
    • Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1
    • Poliak S, et al. (2003) Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1. J Cell Biol 162(6):1149-1160.
    • (2003) J Cell Biol , vol.162 , Issue.6 , pp. 1149-1160
    • Poliak, S.1
  • 28
    • 84863393541 scopus 로고    scopus 로고
    • Distinct neuronal coding schemes in memory revealed by selective erasure of fast synchronous synaptic transmission
    • Xu W, et al. (2012) Distinct neuronal coding schemes in memory revealed by selective erasure of fast synchronous synaptic transmission. Neuron 73(5):990-1001.
    • (2012) Neuron , vol.73 , Issue.5 , pp. 990-1001
    • Xu, W.1
  • 29
    • 78651509693 scopus 로고    scopus 로고
    • RIM proteins tether Ca2+ channels to presynaptic active zones via a direct PDZ-domain interaction
    • Kaeser PS, et al. (2011) RIM proteins tether Ca2+ channels to presynaptic active zones via a direct PDZ-domain interaction. Cell 144(2):282-295.
    • (2011) Cell , vol.144 , Issue.2 , pp. 282-295
    • Kaeser, P.S.1
  • 30
    • 0028061861 scopus 로고
    • Synaptotagmin I: A major Ca2+ sensor for transmitter release at a central synapse
    • Geppert M, et al. (1994) Synaptotagmin I: A major Ca2+ sensor for transmitter release at a central synapse. Cell 79(4):717-727.
    • (1994) Cell , vol.79 , Issue.4 , pp. 717-727
    • Geppert, M.1
  • 31
    • 36048946374 scopus 로고    scopus 로고
    • Sez-6 proteins affect dendritic arborization patterns and excitability of cortical pyramidal neurons
    • Gunnersen JM, et al. (2007) Sez-6 proteins affect dendritic arborization patterns and excitability of cortical pyramidal neurons. Neuron 56(4):621-639.
    • (2007) Neuron , vol.56 , Issue.4 , pp. 621-639
    • Gunnersen, J.M.1
  • 32
    • 33747063840 scopus 로고    scopus 로고
    • Retraction of synapses and dendritic spines induced by off-target effects of RNA interference
    • Alvarez VA, Ridenour DA, Sabatini BL (2006) Retraction of synapses and dendritic spines induced by off-target effects of RNA interference. J Neurosci 26(30):7820-7825.
    • (2006) J Neurosci , vol.26 , Issue.30 , pp. 7820-7825
    • Alvarez, V.A.1    Ridenour, D.A.2    Sabatini, B.L.3
  • 33
    • 0031041601 scopus 로고    scopus 로고
    • Identification of a novel contactin-associated transmembrane receptor with multiple domains implicated in protein-protein interactions
    • Peles E, et al. (1997) Identification of a novel contactin-associated transmembrane receptor with multiple domains implicated in protein-protein interactions. EMBO J 16(5):978-988.
    • (1997) EMBO J , vol.16 , Issue.5 , pp. 978-988
    • Peles, E.1
  • 34
    • 0031453392 scopus 로고    scopus 로고
    • The axonal membrane protein Caspr, a homologue of neurexin IV, is a component of the septate-like paranodal junctions that assemble during myelination
    • Einheber S, et al. (1997) The axonal membrane protein Caspr, a homologue of neurexin IV, is a component of the septate-like paranodal junctions that assemble during myelination. J Cell Biol 139(6):1495-1506.
    • (1997) J Cell Biol , vol.139 , Issue.6 , pp. 1495-1506
    • Einheber, S.1
  • 35
    • 0030772073 scopus 로고    scopus 로고
    • Paranodin, a glycoprotein of neuronal paranodal membranes
    • Menegoz M, et al. (1997) Paranodin, a glycoprotein of neuronal paranodal membranes. Neuron 19(2):319-331.
    • (1997) Neuron , vol.19 , Issue.2 , pp. 319-331
    • Menegoz, M.1
  • 36
    • 0141544999 scopus 로고    scopus 로고
    • Association of TAG-1 with Caspr2 is essential for the molecular organization of juxtaparanodal regions of myelinated fibers
    • Traka M, et al. (2003) Association of TAG-1 with Caspr2 is essential for the molecular organization of juxtaparanodal regions of myelinated fibers. J Cell Biol 162(6): 1161-1172.
    • (2003) J Cell Biol , vol.162 , Issue.6 , pp. 1161-1172
    • Traka, M.1
  • 37
    • 33644527244 scopus 로고    scopus 로고
    • Voltage-gated ion channels in the axon initial segment of human cortical pyramidal cells and their relationship with chandelier cells
    • Inda MC, DeFelipe J, Muñoz A (2006) Voltage-gated ion channels in the axon initial segment of human cortical pyramidal cells and their relationship with chandelier cells. Proc Natl Acad Sci USA 103(8):2920-2925.
    • (2006) Proc Natl Acad Sci USA , vol.103 , Issue.8 , pp. 2920-2925
    • Inda, M.C.1    Defelipe, J.2    Muñoz, A.3
  • 38
    • 76849089459 scopus 로고    scopus 로고
    • Organization of myelinated axons by Caspr and Caspr2 requires the cytoskeletal adapter protein 4.1B
    • Horresh I, Bar V, Kissil JL, Peles E (2010) Organization of myelinated axons by Caspr and Caspr2 requires the cytoskeletal adapter protein 4.1B. J Neurosci 30(7): 2480-2489.
    • (2010) J Neurosci , vol.30 , Issue.7 , pp. 2480-2489
    • Horresh, I.1    Bar, V.2    Kissil, J.L.3    Peles, E.4
  • 39
    • 58149385771 scopus 로고    scopus 로고
    • Multiple molecular interactions determine the clustering of Caspr2 and Kv1 channels in myelinated axons
    • Horresh I, et al. (2008) Multiple molecular interactions determine the clustering of Caspr2 and Kv1 channels in myelinated axons. J Neurosci 28(52):14213-14222.
    • (2008) J Neurosci , vol.28 , Issue.52 , pp. 14213-14222
    • Horresh, I.1
  • 40
    • 0037022131 scopus 로고    scopus 로고
    • Neurofascin is a glial receptor for the paranodin/Caspr-contactin axonal complex at the axoglial junction
    • Charles P, et al. (2002) Neurofascin is a glial receptor for the paranodin/Caspr-contactin axonal complex at the axoglial junction. Curr Biol 12(3):217-220.
    • (2002) Curr Biol , vol.12 , Issue.3 , pp. 217-220
    • Charles, P.1
  • 41
    • 67650733293 scopus 로고    scopus 로고
    • Drosophila Neurexin IV stabilizes neuron-glia interactions at the CNS midline by binding to Wrapper
    • Stork T, et al. (2009) Drosophila Neurexin IV stabilizes neuron-glia interactions at the CNS midline by binding to Wrapper. Development 136(8):1251-1261.
    • (2009) Development , vol.136 , Issue.8 , pp. 1251-1261
    • Stork, T.1
  • 42
    • 77951576522 scopus 로고    scopus 로고
    • Drosophila neurexin IV interacts with Roundabout and is required for repulsive midline axon guidance
    • Banerjee S, et al. (2010) Drosophila neurexin IV interacts with Roundabout and is required for repulsive midline axon guidance. J Neurosci 30(16):5653-5667.
    • (2010) J Neurosci , vol.30 , Issue.16 , pp. 5653-5667
    • Banerjee, S.1
  • 43
    • 0029096048 scopus 로고
    • The carbonic anhydrase domain of receptor tyrosine phosphatase beta is a functional ligand for the axonal cell recognition molecule contactin
    • Peles E, et al. (1995) The carbonic anhydrase domain of receptor tyrosine phosphatase beta is a functional ligand for the axonal cell recognition molecule contactin. Cell 82(2):251-260.
    • (1995) Cell , vol.82 , Issue.2 , pp. 251-260
    • Peles, E.1
  • 44
    • 0029896991 scopus 로고    scopus 로고
    • TAG-1/axonin-1 is a high-affinity ligand of neurocan, phosphacan/protein-tyrosine phosphatase-zeta/beta, and N-CAM
    • Milev P, Maurel P, Häring M, Margolis RK, Margolis RU (1996) TAG-1/axonin-1 is a high-affinity ligand of neurocan, phosphacan/protein- tyrosine phosphatase-zeta/beta, and N-CAM. J Biol Chem 271(26):15716-15723.
    • (1996) J Biol Chem , vol.271 , Issue.26 , pp. 15716-15723
    • Milev, P.1    Maurel, P.2    Häring, M.3    Margolis, R.K.4    Margolis, R.U.5
  • 45
    • 0033571032 scopus 로고    scopus 로고
    • Protein tyrosine phosphatase alpha (PTPalpha) and contactin form a novel neuronal receptor complex linked to the intracellular tyrosine kinase fyn
    • Zeng L, D'Alessandri L, Kalousek MB, Vaughan L, Pallen CJ (1999) Protein tyrosine phosphatase alpha (PTPalpha) and contactin form a novel neuronal receptor complex linked to the intracellular tyrosine kinase fyn. J Cell Biol 147(4):707-714.
    • (1999) J Cell Biol , vol.147 , Issue.4 , pp. 707-714
    • Zeng, L.1    D'Alessandri, L.2    Kalousek, M.B.3    Vaughan, L.4    Pallen, C.J.5


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