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Volumn 68, Issue 2, 2014, Pages 85-95

Copy-number variation in the pathogenesis of autism spectrum disorder

Author keywords

autism spectrum disorders; copy number variation; de novo mutation; schizophrenia; signal transduction

Indexed keywords

PROTEIN UBE3A; UBIQUITIN PROTEIN LIGASE; UNCLASSIFIED DRUG;

EID: 84907873389     PISSN: 13231316     EISSN: 14401819     Source Type: Journal    
DOI: 10.1111/pcn.12128     Document Type: Article
Times cited : (49)

References (62)
  • 4
    • 33845797961 scopus 로고    scopus 로고
    • The genetics of autistic disorders and its clinical relevance: A review of the literature
    • Freitag CM,. The genetics of autistic disorders and its clinical relevance: A review of the literature. Mol. Psychiatry 2007; 12: 2-22.
    • (2007) Mol. Psychiatry , vol.12 , pp. 2-22
    • Freitag, C.M.1
  • 5
    • 84875070450 scopus 로고    scopus 로고
    • Meta review of systematic and meta analytic reviews on movement differences, effect of movement based interventions, and the underlying neural mechanisms in autism spectrum disorder
    • Miyahara M,. Meta review of systematic and meta analytic reviews on movement differences, effect of movement based interventions, and the underlying neural mechanisms in autism spectrum disorder. Front. Integr. Neurosci. 2013; 7: 16. doi: 10.3389/fnint.2013.00016
    • (2013) Front. Integr. Neurosci. , vol.7 , Issue.16
    • Miyahara, M.1
  • 7
    • 76549129054 scopus 로고    scopus 로고
    • Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia
    • Crespi B, Stead P, Elliot M,. Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia. Proc. Natl Acad. Sci. U.S.A. 2010; 107 (Suppl. 1): 1736-1741.
    • (2010) Proc. Natl Acad. Sci. U.S.A. , vol.107 , pp. 1736-1741
    • Crespi, B.1    Stead, P.2    Elliot, M.3
  • 8
    • 79958258583 scopus 로고    scopus 로고
    • Prevalence of autism spectrum disorders in a total population sample
    • Kim YS, Leventhal BL, Koh YJ, et al. Prevalence of autism spectrum disorders in a total population sample. Am. J. Psychiatry 2011; 168: 904-912.
    • (2011) Am. J. Psychiatry , vol.168 , pp. 904-912
    • Kim, Y.S.1    Leventhal, B.L.2    Koh, Y.J.3
  • 9
    • 80051944739 scopus 로고    scopus 로고
    • Genetic heritability and shared environmental factors among twin pairs with autism
    • Hallmayer J, Cleveland S, Torres A, et al. Genetic heritability and shared environmental factors among twin pairs with autism. Arch. Gen. Psychiatry 2011; 68: 1095-1102.
    • (2011) Arch. Gen. Psychiatry , vol.68 , pp. 1095-1102
    • Hallmayer, J.1    Cleveland, S.2    Torres, A.3
  • 10
    • 7244245762 scopus 로고    scopus 로고
    • Finishing the euchromatic sequence of the human genome
    • International Human Genome Sequencing Consortium
    • International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature 2004; 431: 931-945.
    • (2004) Nature , vol.431 , pp. 931-945
  • 11
    • 34247481814 scopus 로고    scopus 로고
    • Strong association of de novo copy number mutations with autism
    • Sebat J, Lakshmi B, Malhotra D, et al. Strong association of de novo copy number mutations with autism. Science 2007; 316: 445-449.
    • (2007) Science , vol.316 , pp. 445-449
    • Sebat, J.1    Lakshmi, B.2    Malhotra, D.3
  • 12
    • 43049143055 scopus 로고    scopus 로고
    • Mapping and sequencing of structural variation from eight human genomes
    • Kidd JM, Cooper GM, Donahue WF, et al. Mapping and sequencing of structural variation from eight human genomes. Nature 2008; 453: 56-64.
    • (2008) Nature , vol.453 , pp. 56-64
    • Kidd, J.M.1    Cooper, G.M.2    Donahue, W.F.3
  • 13
    • 77957735529 scopus 로고    scopus 로고
    • A genome-wide scan for common alleles affecting risk for autism
    • Anney R, Klei L, Pinto D, et al. A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet. 2010; 19: 4072-4082.
    • (2010) Hum Mol Genet. , vol.19 , pp. 4072-4082
    • Anney, R.1    Klei, L.2    Pinto, D.3
  • 14
    • 84872714472 scopus 로고    scopus 로고
    • Rare inherited variation in autism: Beginning to see the forest and a few trees
    • Stein JL, Parikshak NN, Geschwind DH,. Rare inherited variation in autism: Beginning to see the forest and a few trees. Neuron 2013; 77: 209-211.
    • (2013) Neuron , vol.77 , pp. 209-211
    • Stein, J.L.1    Parikshak, N.N.2    Geschwind, D.H.3
  • 15
    • 33847327313 scopus 로고    scopus 로고
    • Mapping autism risk loci using genetic linkage and chromosomal rearrangements
    • Szatmari P, Paterson AD, Zwaigenbaum L, et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat. Genet. 2007; 39: 319-328.
    • (2007) Nat. Genet. , vol.39 , pp. 319-328
    • Szatmari, P.1    Paterson, A.D.2    Zwaigenbaum, L.3
  • 17
    • 3242808027 scopus 로고    scopus 로고
    • Large-scale copy number polymorphism in the human genome
    • Sebat J, Lakshmi B, Troge J, et al. Large-scale copy number polymorphism in the human genome. Science 2004; 305: 525-528.
    • (2004) Science , vol.305 , pp. 525-528
    • Sebat, J.1    Lakshmi, B.2    Troge, J.3
  • 18
    • 33746741125 scopus 로고    scopus 로고
    • Copy number variation: New insights in genome diversity
    • Freeman JL, Perry GH, Feuk L, et al. Copy number variation: New insights in genome diversity. Genome Res. 2006; 16: 949-961.
    • (2006) Genome Res. , vol.16 , pp. 949-961
    • Freeman, J.L.1    Perry, G.H.2    Feuk, L.3
  • 19
    • 84858434210 scopus 로고    scopus 로고
    • CNV: Harbingers of a rare variant revolution in psychiatric genetics
    • Malhotra D, Sebat J,. CNV: Harbingers of a rare variant revolution in psychiatric genetics. Cell 2012; 148: 1223-1241.
    • (2012) Cell , vol.148 , pp. 1223-1241
    • Malhotra, D.1    Sebat, J.2
  • 20
    • 84872593582 scopus 로고    scopus 로고
    • Activity-dependent neuronal signalling and autism spectrum disorder
    • Ebert DH, Greenberg ME,. Activity-dependent neuronal signalling and autism spectrum disorder. Nature 2013; 493: 327-337.
    • (2013) Nature , vol.493 , pp. 327-337
    • Ebert, D.H.1    Greenberg, M.E.2
  • 21
    • 79958074870 scopus 로고    scopus 로고
    • Multiple recurrent de novo CNV, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism
    • Sanders SJ, Ercan-Sencicek AG, Hus V, et al. Multiple recurrent de novo CNV, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 2011; 70: 863-885.
    • (2011) Neuron , vol.70 , pp. 863-885
    • Sanders, S.J.1    Ercan-Sencicek, A.G.2    Hus, V.3
  • 22
    • 77954657070 scopus 로고    scopus 로고
    • Functional impact of global rare copy number variation in autism spectrum disorders
    • Pinto D, Pagnamenta AT, Klei L, et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010; 466: 368-372.
    • (2010) Nature , vol.466 , pp. 368-372
    • Pinto, D.1    Pagnamenta, A.T.2    Klei, L.3
  • 23
    • 84862493260 scopus 로고    scopus 로고
    • Genetic architecture in autism spectrum disorder
    • Devlin B, Scherer SW,. Genetic architecture in autism spectrum disorder. Curr. Opin. Genet. Dev. 2012; 22: 229-237.
    • (2012) Curr. Opin. Genet. Dev. , vol.22 , pp. 229-237
    • Devlin, B.1    Scherer, S.W.2
  • 24
    • 80052260252 scopus 로고    scopus 로고
    • A copy number variation morbidity map of developmental delay
    • Cooper GM, Coe BP, Girirajan S, et al. A copy number variation morbidity map of developmental delay. Nat. Genet. 2011; 43: 838-846.
    • (2011) Nat. Genet. , vol.43 , pp. 838-846
    • Cooper, G.M.1    Coe, B.P.2    Girirajan, S.3
  • 25
    • 34347344982 scopus 로고    scopus 로고
    • Major changes in our DNA lead to major changes in our thinking
    • Sebat J,. Major changes in our DNA lead to major changes in our thinking. Nat. Genet. 2007; 39: S3-S5.
    • (2007) Nat. Genet. , vol.39 , pp. S3-S5
    • Sebat, J.1
  • 27
    • 80054754473 scopus 로고    scopus 로고
    • Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism
    • Horev G, Ellegood J, Lerch JP, et al. Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism. Proc. Natl Acad. Sci. U.S.A. 2011; 108: 17076-17081.
    • (2011) Proc. Natl Acad. Sci. U.S.A. , vol.108 , pp. 17076-17081
    • Horev, G.1    Ellegood, J.2    Lerch, J.P.3
  • 28
    • 67549083336 scopus 로고    scopus 로고
    • Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism
    • Nakatani J, Tamada K, Hatanaka F, et al. Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism. Cell 2009; 137: 1235-1246.
    • (2009) Cell , vol.137 , pp. 1235-1246
    • Nakatani, J.1    Tamada, K.2    Hatanaka, F.3
  • 30
    • 34347349069 scopus 로고    scopus 로고
    • Genomic rearrangements and sporadic disease
    • Lupski JR,. Genomic rearrangements and sporadic disease. Nat. Genet. 2007; 39: S43-S47.
    • (2007) Nat. Genet. , vol.39 , pp. S43-S47
    • Lupski, J.R.1
  • 32
    • 62649088108 scopus 로고    scopus 로고
    • Population analysis of large copy number variants and hotspots of human genetic disease
    • Itsara A, Cooper GM, Baker C, et al. Population analysis of large copy number variants and hotspots of human genetic disease. Am. J. Hum. Genet. 2009; 84: 148-161.
    • (2009) Am. J. Hum. Genet. , vol.84 , pp. 148-161
    • Itsara, A.1    Cooper, G.M.2    Baker, C.3
  • 33
    • 69749122557 scopus 로고    scopus 로고
    • Sensitive and accurate detection of copy number variants using read depth of coverage
    • Yoon S, Xuan Z, Makarov V, Ye K, Sebat J,. Sensitive and accurate detection of copy number variants using read depth of coverage. Genome Res. 2009; 19: 1586-1592.
    • (2009) Genome Res. , vol.19 , pp. 1586-1592
    • Yoon, S.1    Xuan, Z.2    Makarov, V.3    Ye, K.4    Sebat, J.5
  • 34
    • 37749031255 scopus 로고    scopus 로고
    • Next-generation sequencing transforms today's biology
    • Schuster SC,. Next-generation sequencing transforms today's biology. Nat. Methods 2008; 5: 16-18.
    • (2008) Nat. Methods , vol.5 , pp. 16-18
    • Schuster, S.C.1
  • 35
    • 78650909427 scopus 로고    scopus 로고
    • Limitations of next-generation genome sequence assembly
    • Alkan C, Sajjadian S, Eichler EE,. Limitations of next-generation genome sequence assembly. Nat. Methods 2011; 8: 61-65.
    • (2011) Nat. Methods , vol.8 , pp. 61-65
    • Alkan, C.1    Sajjadian, S.2    Eichler, E.E.3
  • 38
    • 34248525150 scopus 로고    scopus 로고
    • Completing the map of human genetic variation
    • Eichler EE, Nickerson DA, Altshuler D, et al. Completing the map of human genetic variation. Nature 2007; 447: 161-165.
    • (2007) Nature , vol.447 , pp. 161-165
    • Eichler, E.E.1    Nickerson, D.A.2    Altshuler, D.3
  • 39
    • 36949000858 scopus 로고    scopus 로고
    • Molecular genetics of the platelet serotonin system in first-degree relatives of patients with autism
    • Cross S, Kim SJ, Weiss LA, et al. Molecular genetics of the platelet serotonin system in first-degree relatives of patients with autism. Neuropsychopharmacology 2008; 33: 353-360.
    • (2008) Neuropsychopharmacology , vol.33 , pp. 353-360
    • Cross, S.1    Kim, S.J.2    Weiss, L.A.3
  • 40
    • 0348230989 scopus 로고    scopus 로고
    • Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2
    • Bi W, Park SS, Shaw CJ, Withers MA, Patel PI, Lupski JR,. Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. Am. J. Hum. Genet. 2003; 73: 1302-1315.
    • (2003) Am. J. Hum. Genet. , vol.73 , pp. 1302-1315
    • Bi, W.1    Park, S.S.2    Shaw, C.J.3    Withers, M.A.4    Patel, P.I.5    Lupski, J.R.6
  • 41
    • 77953908995 scopus 로고    scopus 로고
    • Retrotransposition and structural variation in the human genome
    • Lupski JR,. Retrotransposition and structural variation in the human genome. Cell 2010; 141: 1110-1112.
    • (2010) Cell , vol.141 , pp. 1110-1112
    • Lupski, J.R.1
  • 42
    • 70449629672 scopus 로고    scopus 로고
    • Autism genetics: Emerging data from genome-wide copy-number and single nucleotide polymorphism scans
    • Weiss LA,. Autism genetics: Emerging data from genome-wide copy-number and single nucleotide polymorphism scans. Expert. Rev. Mol. Diagn. 2009; 9: 795-803.
    • (2009) Expert. Rev. Mol. Diagn. , vol.9 , pp. 795-803
    • Weiss, L.A.1
  • 43
    • 47249130437 scopus 로고    scopus 로고
    • Genetics: Insights into the pathogenesis of autism
    • Sutcliffe JS,. Genetics: Insights into the pathogenesis of autism. Science 2008; 321: 208-209.
    • (2008) Science , vol.321 , pp. 208-209
    • Sutcliffe, J.S.1
  • 44
    • 67349182343 scopus 로고    scopus 로고
    • Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
    • Glessner JT, Wang K, Cai G, et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 2009; 459: 569-573.
    • (2009) Nature , vol.459 , pp. 569-573
    • Glessner, J.T.1    Wang, K.2    Cai, G.3
  • 45
    • 35148858044 scopus 로고    scopus 로고
    • A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice
    • Tabuchi K, Blundell J, Etherton MR, et al. A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice. Science 2007; 318: 71-76.
    • (2007) Science , vol.318 , pp. 71-76
    • Tabuchi, K.1    Blundell, J.2    Etherton, M.R.3
  • 46
    • 67349178189 scopus 로고    scopus 로고
    • Ube3a is required for experience-dependent maturation of the neocortex
    • Yashiro K, Riday TT, Condon KH, et al. Ube3a is required for experience-dependent maturation of the neocortex. Nat. Neurosci. 2009; 12: 777-783.
    • (2009) Nat. Neurosci. , vol.12 , pp. 777-783
    • Yashiro, K.1    Riday, T.T.2    Condon, K.H.3
  • 47
    • 84861950914 scopus 로고    scopus 로고
    • Maternal loss of Ube3a produces an excitatory/inhibitory imbalance through neuron type-specific synaptic defects
    • Wallace ML, Burette AC, Weinberg RJ, Philpot BD,. Maternal loss of Ube3a produces an excitatory/inhibitory imbalance through neuron type-specific synaptic defects. Neuron 2012; 74: 793-800.
    • (2012) Neuron , vol.74 , pp. 793-800
    • Wallace, M.L.1    Burette, A.C.2    Weinberg, R.J.3    Philpot, B.D.4
  • 48
    • 84879964832 scopus 로고    scopus 로고
    • Global increases in both common and rare copy number load associated with autism
    • Girirajan S, Johnson RL, Tassone F, et al. Global increases in both common and rare copy number load associated with autism. Hum. Mol. Genet. 2013; 22: 2870-2880.
    • (2013) Hum. Mol. Genet. , vol.22 , pp. 2870-2880
    • Girirajan, S.1    Johnson, R.L.2    Tassone, F.3
  • 49
    • 84870529525 scopus 로고    scopus 로고
    • Diverse types of genetic variation converge on functional gene networks involved in schizophrenia
    • Gilman SR, Chang J, Xu B, et al. Diverse types of genetic variation converge on functional gene networks involved in schizophrenia. Nat. Neurosci. 2012; 15: 1723-1728.
    • (2012) Nat. Neurosci. , vol.15 , pp. 1723-1728
    • Gilman, S.R.1    Chang, J.2    Xu, B.3
  • 50
    • 84858673064 scopus 로고    scopus 로고
    • Simons Variation in Individuals Project (Simons VIP): A genetics-first approach to studying autism spectrum and related neurodevelopmental disorders
    • Simons Variation in Individuals Project (Simons VIP): A genetics-first approach to studying autism spectrum and related neurodevelopmental disorders. Neuron 2012; 73: 1063-1067.
    • (2012) Neuron , vol.73 , pp. 1063-1067
  • 51
    • 84870280744 scopus 로고    scopus 로고
    • A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
    • Zufferey F, Sherr EH, Beckmann ND, et al. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J. Med. Genet. 2012; 49: 660-668.
    • (2012) J. Med. Genet. , vol.49 , pp. 660-668
    • Zufferey, F.1    Sherr, E.H.2    Beckmann, N.D.3
  • 52
    • 84870985438 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in 22q11.2 deletion syndrome
    • Michaelovsky E, Frisch A, Carmel M, et al. Genotype-phenotype correlation in 22q11.2 deletion syndrome. BMC Med. Genet. 2012; 13: 122.
    • (2012) BMC Med. Genet. , vol.13 , pp. 122
    • Michaelovsky, E.1    Frisch, A.2    Carmel, M.3
  • 53
    • 77955379566 scopus 로고    scopus 로고
    • Copy number variations in schizophrenia: Critical review and new perspectives on concepts of genetics and disease
    • Bassett AS, Scherer SW, Brzustowicz LM,. Copy number variations in schizophrenia: Critical review and new perspectives on concepts of genetics and disease. Am. J. Psychiatry 2010; 167: 899-914.
    • (2010) Am. J. Psychiatry , vol.167 , pp. 899-914
    • Bassett, A.S.1    Scherer, S.W.2    Brzustowicz, L.M.3
  • 54
    • 33748426974 scopus 로고    scopus 로고
    • The 22q11.2 deletion in children: High rate of autistic disorders and early onset of psychotic symptoms
    • Vorstman JA, Morcus ME, Duijff SN, et al. The 22q11.2 deletion in children: High rate of autistic disorders and early onset of psychotic symptoms. J. Am. Acad. Child Adolesc. Psychiatry 2006; 45: 1104-1113.
    • (2006) J. Am. Acad. Child Adolesc. Psychiatry , vol.45 , pp. 1104-1113
    • Vorstman, J.A.1    Morcus, M.E.2    Duijff, S.N.3
  • 56
    • 24044515278 scopus 로고    scopus 로고
    • Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome
    • Fine SE, Weissman A, Gerdes M, et al. Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome. J. Autism Dev. Disord. 2005; 35: 461-470.
    • (2005) J. Autism Dev. Disord. , vol.35 , pp. 461-470
    • Fine, S.E.1    Weissman, A.2    Gerdes, M.3
  • 57
    • 77649122250 scopus 로고    scopus 로고
    • A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
    • Girirajan S, Rosenfeld JA, Cooper GM, et al. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat. Genet. 2010; 42: 203-209.
    • (2010) Nat. Genet. , vol.42 , pp. 203-209
    • Girirajan, S.1    Rosenfeld, J.A.2    Cooper, G.M.3
  • 58
    • 84865241459 scopus 로고    scopus 로고
    • The Notch signalling system: Recent insights into the complexity of a conserved pathway
    • Guruharsha KG, Kankel MW, Artavanis-Tsakonas S,. The Notch signalling system: Recent insights into the complexity of a conserved pathway. Nat. Rev. Genet. 2012; 13: 654-666.
    • (2012) Nat. Rev. Genet. , vol.13 , pp. 654-666
    • Guruharsha, K.G.1    Kankel, M.W.2    Artavanis-Tsakonas, S.3
  • 59
    • 31444447881 scopus 로고    scopus 로고
    • Notch signalling in vertebrate neural development
    • Louvi A, Artavanis-Tsakonas S,. Notch signalling in vertebrate neural development. Nat. Rev. Neurosci. 2006; 7: 93-102.
    • (2006) Nat. Rev. Neurosci. , vol.7 , pp. 93-102
    • Louvi, A.1    Artavanis-Tsakonas, S.2
  • 61
    • 0025997867 scopus 로고
    • Ras1 and a putative guanine nucleotide exchange factor perform crucial steps in signaling by the sevenless protein tyrosine kinase
    • Simon MA, Bowtell DD, Dodson GS, Laverty TR, Rubin GM,. Ras1 and a putative guanine nucleotide exchange factor perform crucial steps in signaling by the sevenless protein tyrosine kinase. Cell 1991; 67: 701-716.
    • (1991) Cell , vol.67 , pp. 701-716
    • Simon, M.A.1    Bowtell, D.D.2    Dodson, G.S.3    Laverty, T.R.4    Rubin, G.M.5


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