메뉴 건너뛰기




Volumn 6, Issue 3, 2011, Pages

Ontogenetic de novo copy number variations (CNVs) as a source of genetic individuality: Studies on two families with MZD twins for schizophrenia

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CELL TRANSFER; CHROMOSOME BREAKAGE; CONTROLLED STUDY; COPY NUMBER VARIATION; FEMALE; GENE LOSS; GENETIC ASSOCIATION; GENETIC DIFFERENCE; GENETIC GAIN; GENETIC IDENTIFICATION; HUMAN; INDIVIDUALITY; MAJOR CLINICAL STUDY; MALE; MEIOSIS; MITOSIS; MONOZYGOTIC TWINS; MOSAICISM; NUCLEAR FAMILY; ONTOGENY; PEDIGREE ANALYSIS; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM; TWIN DISCORDANCE; DEMOGRAPHY; FAMILY; GENETICS; HUMAN CHROMOSOME; INHERITANCE; MIDDLE AGED; NUCLEOTIDE REPEAT; PEDIGREE; TWINS;

EID: 79952289176     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0017125     Document Type: Article
Times cited : (58)

References (42)
  • 1
    • 0012903931 scopus 로고
    • The Genesis of Twins
    • Fisher RA, (1919) The Genesis of Twins. Genetics 4: 489-499.
    • (1919) Genetics , vol.4 , pp. 489-499
    • Fisher, R.A.1
  • 2
    • 77950456427 scopus 로고    scopus 로고
    • Multiple personal genomes await
    • Venter JC, (2010) Multiple personal genomes await. Nature 464: 676-677.
    • (2010) Nature , vol.464 , pp. 676-677
    • Venter, J.C.1
  • 3
    • 77952690350 scopus 로고    scopus 로고
    • The clinical context of copy number variation in the human genome
    • Lee C, Scherer SW, (2010) The clinical context of copy number variation in the human genome. Expert Rev Mol Med 12: e8.
    • (2010) Expert Rev Mol Med , vol.12
    • Lee, C.1    Scherer, S.W.2
  • 5
    • 3242808027 scopus 로고    scopus 로고
    • Large-scale copy number polymorphism in the human genome
    • Sebat J, Lakshmi B, Troge J, Alexander J, Young J, et al. (2004) Large-scale copy number polymorphism in the human genome. Science 305: 525-528.
    • (2004) Science , vol.305 , pp. 525-528
    • Sebat, J.1    Lakshmi, B.2    Troge, J.3    Alexander, J.4    Young, J.5
  • 6
    • 77949831756 scopus 로고    scopus 로고
    • Structural variation in the human genome and its role in disease
    • Stankiewicz P, Lupski JR, (2010) Structural variation in the human genome and its role in disease. Annu Rev Med 61: 437-455.
    • (2010) Annu Rev Med , vol.61 , pp. 437-455
    • Stankiewicz, P.1    Lupski, J.R.2
  • 7
    • 42349088634 scopus 로고    scopus 로고
    • Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
    • Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, et al. (2008) Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 320: 539-543.
    • (2008) Science , vol.320 , pp. 539-543
    • Walsh, T.1    McClellan, J.M.2    McCarthy, S.E.3    Addington, A.M.4    Pierce, S.B.5
  • 8
    • 61449229353 scopus 로고    scopus 로고
    • A genome-wide investigation of SNPs and CNVs in schizophrenia
    • Need AC, Ge D, Weale ME, Maia J, Feng S, et al. (2009) A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet 5: e1000373.
    • (2009) PLoS Genet , vol.5
    • Need, A.C.1    Ge, D.2    Weale, M.E.3    Maia, J.4    Feng, S.5
  • 9
    • 62849102798 scopus 로고    scopus 로고
    • Copy number variation showers in schizophrenia: an emerging hypothesis
    • Singh SM, Castellani CA, O'Reilly RL, (2009) Copy number variation showers in schizophrenia: an emerging hypothesis. Mol Psychiatry 14: 356-358.
    • (2009) Mol Psychiatry , vol.14 , pp. 356-358
    • Singh, S.M.1    Castellani, C.A.2    O'Reilly, R.L.3
  • 10
    • 77950587223 scopus 로고    scopus 로고
    • Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia
    • Grozeva D, Kirov G, Ivanov D, Jones IR, Jones L, et al. (2010) Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia. Arch Gen Psychiatry 67: 318-327.
    • (2010) Arch Gen Psychiatry , vol.67 , pp. 318-327
    • Grozeva, D.1    Kirov, G.2    Ivanov, D.3    Jones, I.R.4    Jones, L.5
  • 11
    • 74949088599 scopus 로고    scopus 로고
    • The role of copy number variation in schizophrenia
    • Kirov G, (2010) The role of copy number variation in schizophrenia. Expert Rev Neurother 10: 25-32.
    • (2010) Expert Rev Neurother , vol.10 , pp. 25-32
    • Kirov, G.1
  • 12
    • 0024435379 scopus 로고
    • Confirming unexpressed genotypes for schizophrenia. Risks in the offspring of Fischer's Danish identical and fraternal discordant twins
    • Gottesman II, Bertelsen A, (1989) Confirming unexpressed genotypes for schizophrenia. Risks in the offspring of Fischer's Danish identical and fraternal discordant twins. Arch Gen Psychiatry 46: 867-872.
    • (1989) Arch Gen Psychiatry , vol.46 , pp. 867-872
    • Gottesman, I.I.1    Bertelsen, A.2
  • 13
    • 0028275174 scopus 로고
    • The strength of the genetic effect. Is there room for an environmental influence in the aetiology of schizophrenia?
    • McGuffin P, Asherson P, Owen M, Farmer A, (1994) The strength of the genetic effect. Is there room for an environmental influence in the aetiology of schizophrenia? Br J Psychiatry 164: 593-599.
    • (1994) Br J Psychiatry , vol.164 , pp. 593-599
    • McGuffin, P.1    Asherson, P.2    Owen, M.3    Farmer, A.4
  • 14
    • 77954094635 scopus 로고    scopus 로고
    • Genomic copy number variations in three Southeast Asian populations
    • Ku CS, Pawitan Y, Sim X, Ong RT, Seielstad M, et al. (2010) Genomic copy number variations in three Southeast Asian populations. Hum Mutat 31: 851-857.
    • (2010) Hum Mutat , vol.31 , pp. 851-857
    • Ku, C.S.1    Pawitan, Y.2    Sim, X.3    Ong, R.T.4    Seielstad, M.5
  • 16
    • 50449088155 scopus 로고    scopus 로고
    • A common sequence motif associated with recombination hot spots and genome instability in humans
    • Myers S, Freeman C, Auton A, Donnelly P, McVean G, (2008) A common sequence motif associated with recombination hot spots and genome instability in humans. Nat Genet 40: 1124-1129.
    • (2008) Nat Genet , vol.40 , pp. 1124-1129
    • Myers, S.1    Freeman, C.2    Auton, A.3    Donnelly, P.4    McVean, G.5
  • 17
    • 0032481288 scopus 로고    scopus 로고
    • Chromosomal localization and immunological analysis of a family of human 26S proteasomal ATPases
    • Tanahashi N, Suzuki M, Fujiwara T, Takahashi E, Shimbara N, et al. (1998) Chromosomal localization and immunological analysis of a family of human 26S proteasomal ATPases. Biochem Biophys Res Commun 243: 229-232.
    • (1998) Biochem Biophys Res Commun , vol.243 , pp. 229-232
    • Tanahashi, N.1    Suzuki, M.2    Fujiwara, T.3    Takahashi, E.4    Shimbara, N.5
  • 18
    • 38049150586 scopus 로고    scopus 로고
    • The DNA damage response pathways: at the crossroad of protein modifications
    • Huen MS, Chen J, (2008) The DNA damage response pathways: at the crossroad of protein modifications. Cell Res 18: 8-16.
    • (2008) Cell Res , vol.18 , pp. 8-16
    • Huen, M.S.1    Chen, J.2
  • 19
    • 0030066952 scopus 로고    scopus 로고
    • Genomic organization and mapping of the mouse P26s4 ATPase gene: a member of the remarkably conserved AAA gene family
    • Hoyle J, Fisher EM, (1996) Genomic organization and mapping of the mouse P26s4 ATPase gene: a member of the remarkably conserved AAA gene family. Genomics 31: 115-118.
    • (1996) Genomics , vol.31 , pp. 115-118
    • Hoyle, J.1    Fisher, E.M.2
  • 20
    • 27744562656 scopus 로고    scopus 로고
    • Gene expression microarray studies in polygenic psychiatric disorders: applications and data analysis
    • Konradi C, (2005) Gene expression microarray studies in polygenic psychiatric disorders: applications and data analysis. Brain Res Brain Res Rev 50: 142-155.
    • (2005) Brain Res Brain Res Rev , vol.50 , pp. 142-155
    • Konradi, C.1
  • 21
    • 33745698337 scopus 로고    scopus 로고
    • Critical appraisal of DNA microarrays in psychiatric genomics
    • Mirnics K, Levitt P, Lewis DA, (2006) Critical appraisal of DNA microarrays in psychiatric genomics. Biol Psychiatry 60: 163-176.
    • (2006) Biol Psychiatry , vol.60 , pp. 163-176
    • Mirnics, K.1    Levitt, P.2    Lewis, D.A.3
  • 22
    • 7444259052 scopus 로고    scopus 로고
    • Gene expression profile in interleukin-4-stimulated human vascular endothelial cells
    • Lee YW, Eum SY, Chen KC, Hennig B, Toborek M, (2004) Gene expression profile in interleukin-4-stimulated human vascular endothelial cells. Mol Med 10: 19-27.
    • (2004) Mol Med , vol.10 , pp. 19-27
    • Lee, Y.W.1    Eum, S.Y.2    Chen, K.C.3    Hennig, B.4    Toborek, M.5
  • 23
    • 0032007043 scopus 로고    scopus 로고
    • Cytogenetic investigations of 340 thyroid hyperplasias and adenomas revealing correlations between cytogenetic findings and histology
    • Belge G, Roque L, Soares J, Bruckmann S, Thode B, et al. (1998) Cytogenetic investigations of 340 thyroid hyperplasias and adenomas revealing correlations between cytogenetic findings and histology. Cancer Genet Cytogenet 101: 42-48.
    • (1998) Cancer Genet Cytogenet , vol.101 , pp. 42-48
    • Belge, G.1    Roque, L.2    Soares, J.3    Bruckmann, S.4    Thode, B.5
  • 24
    • 33845660355 scopus 로고    scopus 로고
    • Annotation, nomenclature and evolution of four novel homeobox genes expressed in the human germ line
    • Booth HA, Holland PW, (2007) Annotation, nomenclature and evolution of four novel homeobox genes expressed in the human germ line. Gene 387: 7-14.
    • (2007) Gene , vol.387 , pp. 7-14
    • Booth, H.A.1    Holland, P.W.2
  • 25
    • 39649091198 scopus 로고    scopus 로고
    • Drosophila peroxiredoxin 5 is the second gene in a dicistronic operon
    • Michalak K, Orr WC, Radyuk SN, (2008) Drosophila peroxiredoxin 5 is the second gene in a dicistronic operon. Biochem Biophys Res Commun 368: 273-278.
    • (2008) Biochem Biophys Res Commun , vol.368 , pp. 273-278
    • Michalak, K.1    Orr, W.C.2    Radyuk, S.N.3
  • 26
    • 0035911696 scopus 로고    scopus 로고
    • Isolation, characterization, and mapping of a novel human KRAB zinc finger protein encoding gene ZNF463
    • Wu H, Zhang S, Qiu W, Zhang G, Xia Q, et al. (2001) Isolation, characterization, and mapping of a novel human KRAB zinc finger protein encoding gene ZNF463. Biochim Biophys Acta 1518: 190-193.
    • (2001) Biochim Biophys Acta , vol.1518 , pp. 190-193
    • Wu, H.1    Zhang, S.2    Qiu, W.3    Zhang, G.4    Xia, Q.5
  • 27
    • 77950930978 scopus 로고    scopus 로고
    • High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta
    • Daelemans C, Ritchie ME, Smits G, Abu-Amero S, Sudbery IM, et al. (2010) High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta. BMC Genet 11: 25.
    • (2010) BMC Genet , vol.11 , pp. 25
    • Daelemans, C.1    Ritchie, M.E.2    Smits, G.3    Abu-Amero, S.4    Sudbery, I.M.5
  • 28
    • 0344155126 scopus 로고    scopus 로고
    • A 3.4-kbp transcript of ZNF331 is solely expressed in follicular thyroid adenomas
    • Meiboom M, Murua EH, Pentimalli F, Fusco A, Belge G, et al. (2003) A 3.4-kbp transcript of ZNF331 is solely expressed in follicular thyroid adenomas. Cytogenet Genome Res 101: 113-117.
    • (2003) Cytogenet Genome Res , vol.101 , pp. 113-117
    • Meiboom, M.1    Murua, E.H.2    Pentimalli, F.3    Fusco, A.4    Belge, G.5
  • 29
    • 51549095601 scopus 로고    scopus 로고
    • Somatic mosaicism for copy number variation in differentiated human tissues
    • Piotrowski A, Bruder CE, Andersson R, Diaz dS, Menzel U, et al. (2008) Somatic mosaicism for copy number variation in differentiated human tissues. Hum Mutat 29: 1118-1124.
    • (2008) Hum Mutat , vol.29 , pp. 1118-1124
    • Piotrowski, A.1    Bruder, C.E.2    Andersson, R.3    Diaz, D.S.4    Menzel, U.5
  • 30
    • 77949725632 scopus 로고    scopus 로고
    • Early embryonic chromosome instability results in stable mosaic pattern in human tissues
    • Mkrtchyan H, Gross M, Hinreiner S, Polytiko A, Manvelyan M, et al. (2010) Early embryonic chromosome instability results in stable mosaic pattern in human tissues. PLoS One 5: e9591.
    • (2010) PLoS One , vol.5
    • Mkrtchyan, H.1    Gross, M.2    Hinreiner, S.3    Polytiko, A.4    Manvelyan, M.5
  • 31
    • 66749169417 scopus 로고    scopus 로고
    • Chromosome instability is common in human cleavage-stage embryos
    • Vanneste E, Voet T, Le Caignec C, Ampe M, Konings P, et al. (2009) Chromosome instability is common in human cleavage-stage embryos. Nat Med 15: 577-583.
    • (2009) Nat Med , vol.15 , pp. 577-583
    • Vanneste, E.1    Voet, T.2    Le Caignec, C.3    Ampe, M.4    Konings, P.5
  • 32
    • 77949931348 scopus 로고    scopus 로고
    • The emergence of a new science of the mind: immunology benefits the mind
    • Schwartz M, (2010) The emergence of a new science of the mind: immunology benefits the mind. Mol Psychiatry 15: 337-338.
    • (2010) Mol Psychiatry , vol.15 , pp. 337-338
    • Schwartz, M.1
  • 33
    • 77950669072 scopus 로고    scopus 로고
    • Coexpression network analysis of neural tissue reveals perturbations in developmental processes in schizophrenia
    • Torkamani A, Dean B, Schork NJ, Thomas EA, (2010) Coexpression network analysis of neural tissue reveals perturbations in developmental processes in schizophrenia. Genome Res 20: 403-412.
    • (2010) Genome Res , vol.20 , pp. 403-412
    • Torkamani, A.1    Dean, B.2    Schork, N.J.3    Thomas, E.A.4
  • 34
    • 65349187037 scopus 로고    scopus 로고
    • (Epi)genomics and neurodevelopment in schizophrenia: monozygotic twins discordant for schizophrenia augment the search for disease-related (epi)genomic alterations
    • Singh SM, O'Reilly R, (2009) (Epi)genomics and neurodevelopment in schizophrenia: monozygotic twins discordant for schizophrenia augment the search for disease-related (epi)genomic alterations. Genome 52: 8-19.
    • (2009) Genome , vol.52 , pp. 8-19
    • Singh, S.M.1    O'Reilly, R.2
  • 35
    • 40849109768 scopus 로고    scopus 로고
    • Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles
    • Bruder CE, Piotrowski A, Gijsbers AA, Andersson R, Erickson S, et al. (2008) Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet 82: 763-771.
    • (2008) Am J Hum Genet , vol.82 , pp. 763-771
    • Bruder, C.E.1    Piotrowski, A.2    Gijsbers, A.A.3    Andersson, R.4    Erickson, S.5
  • 36
    • 77957859197 scopus 로고    scopus 로고
    • DNA methylation analysis of multiple tissues from newborn twins reveals both genetic and intrauterine components to variation in the human neonatal epigenome
    • Ollikainen M, Smith KR, Joo EJ, Ng HK, Andronikos R, et al. (2010) DNA methylation analysis of multiple tissues from newborn twins reveals both genetic and intrauterine components to variation in the human neonatal epigenome. Hum Mol Genet.
    • (2010) Hum Mol Genet
    • Ollikainen, M.1    Smith, K.R.2    Joo, E.J.3    Ng, H.K.4    Andronikos, R.5
  • 38
    • 59249107052 scopus 로고    scopus 로고
    • DNA methylation profiles in monozygotic and dizygotic twins
    • Kaminsky ZA, Tang T, Wang SC, Ptak C, Oh GH, et al. (2009) DNA methylation profiles in monozygotic and dizygotic twins. Nat Genet 41: 240-245.
    • (2009) Nat Genet , vol.41 , pp. 240-245
    • Kaminsky, Z.A.1    Tang, T.2    Wang, S.C.3    Ptak, C.4    Oh, G.H.5
  • 39
    • 77951836633 scopus 로고    scopus 로고
    • Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis
    • Baranzini SE, Mudge J, van Velkinburgh JC, Khankhanian P, Khrebtukova I, et al. (2010) Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis. Nature 464: 1351-1356.
    • (2010) Nature , vol.464 , pp. 1351-1356
    • Baranzini, S.E.1    Mudge, J.2    van Velkinburgh, J.C.3    Khankhanian, P.4    Khrebtukova, I.5
  • 40
    • 77649237783 scopus 로고    scopus 로고
    • Multiple sclerosis: geoepidemiology, genetics and the environment
    • Milo R, Kahana E, (2010) Multiple sclerosis: geoepidemiology, genetics and the environment. Autoimmun Rev 9: A387-A394.
    • (2010) Autoimmun Rev , vol.9
    • Milo, R.1    Kahana, E.2
  • 42
    • 67649878596 scopus 로고    scopus 로고
    • The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans
    • Zhang F, Khajavi M, Connolly AM, Towne CF, Batish SD, et al. (2009) The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet 41: 849-853.
    • (2009) Nat Genet , vol.41 , pp. 849-853
    • Zhang, F.1    Khajavi, M.2    Connolly, A.M.3    Towne, C.F.4    Batish, S.D.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.