메뉴 건너뛰기




Volumn 2, Issue 1, 2011, Pages

Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples

Author keywords

15q; autism; copy number variation; duplication; epigenetic; imprinting; methylation

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; COMPLEMENTARY DNA; GENOMIC DNA; MESSENGER RNA; PROTEIN SNRPN; PROTEIN UBE3A; UNCLASSIFIED DRUG;

EID: 84860597923     PISSN: None     EISSN: 20402392     Source Type: Journal    
DOI: 10.1186/2040-2392-2-19     Document Type: Article
Times cited : (63)

References (49)
  • 1
    • 73149102059 scopus 로고    scopus 로고
    • Prevalence of autism spectrum disorders - Autism and Developmental Disabilities Monitoring Network, United States, 2006
    • 20023608
    • Prevalence of autism spectrum disorders-Autism and Developmental Disabilities Monitoring Network, United States, 2006. MMWR Surveill Summ 2009 58 1 20 20023608
    • (2009) MMWR Surveill Summ , vol.58 , pp. 1-20
  • 2
    • 67651010456 scopus 로고    scopus 로고
    • Genetic advances in autism: Heterogeneity and convergence on shared pathways
    • 10.1016/j.gde.2009.04.004 19477629
    • Genetic advances in autism: heterogeneity and convergence on shared pathways. Bill BR, Geschwind DH, Curr Opin Genet Dev 2009 19 271 278 10.1016/j.gde.2009.04.004 19477629
    • (2009) Curr Opin Genet Dev , vol.19 , pp. 271-278
    • Bill, B.R.1    Geschwind, D.H.2
  • 3
    • 67650750977 scopus 로고    scopus 로고
    • A synaptic trek to autism
    • 10.1016/j.conb.2009.06.003 19545994
    • A synaptic trek to autism. Bourgeron T, Curr Opin Neurobiol 2009 19 231 234 10.1016/j.conb.2009.06.003 19545994
    • (2009) Curr Opin Neurobiol , vol.19 , pp. 231-234
    • Bourgeron, T.1
  • 6
    • 58149237890 scopus 로고    scopus 로고
    • The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)
    • 10.1186/1750-1172-3-30 19019226
    • The inv dup (15) or idic (15) syndrome (Tetrasomy 15q). Battaglia A, Orphanet J Rare Dis 2008 3 30 10.1186/1750-1172-3-30 19019226
    • (2008) Orphanet J Rare Dis , vol.3 , pp. 30
    • Battaglia, A.1
  • 8
    • 22244476747 scopus 로고    scopus 로고
    • The inv dup(15) or idic(15) syndrome: A clinically recognisable neurogenetic disorder
    • DOI 10.1016/j.braindev.2004.08.006, PII S0387760405000422, Chromosomal Aberration and Epileptic Syndrome, Part 2
    • The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder. Battaglia A, Brain & development 2005 27 365 369 10.1016/j.braindev.2004.08.006 22220320 (Pubitemid 40991759)
    • (2005) Brain and Development , vol.27 , Issue.5 , pp. 365-369
    • Battaglia, A.1
  • 9
    • 0032971379 scopus 로고    scopus 로고
    • Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13)
    • DOI 10.1093/hmg/8.6.1025
    • Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13). Christian SL, Fantes JA, Mewborn SK, Huang B, Ledbetter DH, Hum Mol Genet 1999 8 1025 1037 10.1093/hmg/8.6.1025 10332034 (Pubitemid 29250890)
    • (1999) Human Molecular Genetics , vol.8 , Issue.6 , pp. 1025-1037
    • Christian, S.L.1    Fantes, J.A.2    Mewborn, S.K.3    Huang, B.4    Ledbetter, D.H.5
  • 10
    • 39549087017 scopus 로고    scopus 로고
    • Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes
    • DOI 10.1186/gb-2007-8-6-r114
    • Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes. Makoff AJ, Flomen RH, Genome Biol 2007 8 114 10.1186/gb-2007-8-6-r114 17573966 (Pubitemid 351903168)
    • (2007) Genome Biology , vol.8 , Issue.6
    • Makoff, A.J.1    Flomen, R.H.2
  • 11
    • 0028133293 scopus 로고
    • Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
    • DOI 10.1038/ng0994-52
    • Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Sutcliffe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, Ledbetter DH, Beaudet AL, Nat Genet 1994 8 52 58 10.1038/ng0994-52 7987392 (Pubitemid 24274060)
    • (1994) Nature Genetics , vol.8 , Issue.1 , pp. 52-58
    • Sutcliffe, J.S.1    Nakao, M.2    Christian, S.3    Orstavik, K.H.4    Tommerup, N.5    Ledbetter, D.H.6    Beaudet, A.L.7
  • 14
    • 1442300775 scopus 로고    scopus 로고
    • Prader-Willi syndrome: A study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders
    • DOI 10.1007/s00787-004-0354-6
    • Prader-Willi syndrome - a study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders. Veltman MW, Thompson RJ, Roberts SE, Thomas NS, Whittington J, Bolton PF, Eur Child Adolesc Psychiatry 2004 13 42 50 10.1007/s00787-004-0354-6 14991431 (Pubitemid 38280187)
    • (2004) European Child and Adolescent Psychiatry , vol.13 , Issue.1 , pp. 42-50
    • Veltman, M.W.M.1    Thompson, R.J.2    Roberts, S.E.3    Thomas, N.S.4    Whittington, J.5    Bolton, P.F.6
  • 16
    • 0031228039 scopus 로고    scopus 로고
    • The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain [letter] [In Process Citation]
    • 10.1038/ng0997-14 9288088
    • The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain [letter] [In Process Citation]. Rougeulle C, Glatt H, Lalande M, Nat Genet 1997 17 14 15 10.1038/ng0997-14 9288088
    • (1997) Nat Genet , vol.17 , pp. 14-15
    • Rougeulle, C.1    Glatt, H.2    Lalande, M.3
  • 18
    • 0038584919 scopus 로고    scopus 로고
    • Predominant maternal expression of the mouse Atp10c in hippocampus and olfactory bulb
    • DOI 10.1007/s10038-003-0009-3
    • Predominant maternal expression of the mouse Atp10c in hippocampus and olfactory bulb. Kashiwagi A, Meguro M, Hoshiya H, Haruta M, Ishino F, Shibahara T, Oshimura M, J Hum Genet 2003 48 194 198 10.1007/s10038-003-0009-3 12730723 (Pubitemid 36604639)
    • (2003) Journal of Human Genetics , vol.48 , Issue.4 , pp. 194-198
    • Kashiwagi, A.1    Meguro, M.2    Hoshiya, H.3    Haruta, M.4    Ishino, F.5    Shibahara, T.6    Oshimura, M.7
  • 19
    • 0035039122 scopus 로고    scopus 로고
    • A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome
    • DOI 10.1038/88209
    • A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome. Meguro M, Kashiwagi A, Mitsuya K, Nakao M, Kondo I, Saitoh S, Oshimura M, Nat Genet 2001 28 19 20 11326269 (Pubitemid 32405810)
    • (2001) Nature Genetics , vol.28 , Issue.1 , pp. 19-20
    • Meguro, M.1    Kashiwagi, A.2    Mitsuya, K.3    Nakao, M.4    Kondo, I.5    Saitoh, S.6    Oshimura, M.7
  • 20
    • 77954657726 scopus 로고    scopus 로고
    • Atp10a, a gene adjacent to the PWS/AS gene cluster, is not imprinted in mouse and is insensitive to the PWS-IC
    • Atp10a, a gene adjacent to the PWS/AS gene cluster, is not imprinted in mouse and is insensitive to the PWS-IC. DuBose AJ, Johnstone KA, Smith EY, Hallett RA, Resnick JL, Neurogenetics 11 145 151
    • Neurogenetics , vol.11 , pp. 145-151
    • Dubose, A.J.1    Johnstone, K.A.2    Smith, E.Y.3    Hallett, R.A.4    Resnick, J.L.5
  • 21
    • 53749105023 scopus 로고    scopus 로고
    • Gender influences monoallelic expression of ATP10A in human brain
    • Gender influences monoallelic expression of ATP10A in human brain. Hogart A, Patzel KA, Lasalle JM, Hum Genet 2008
    • (2008) Hum Genet
    • Hogart, A.1    Patzel, K.A.2    Lasalle, J.M.3
  • 22
    • 34247170891 scopus 로고    scopus 로고
    • A receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders
    • DOI 10.1093/hmg/ddm014
    • 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders. Hogart A, Nagarajan RP, Patzel KA, Yasui DH, Lasalle JM, Hum Mol Genet 2007 16 691 703 17339270 (Pubitemid 46585668)
    • (2007) Human Molecular Genetics , vol.16 , Issue.6 , pp. 691-703
    • Hogart, A.1    Nagarajan, R.P.2    Patzel, K.A.3    Yasui, D.H.4    LaSalle, J.M.5
  • 23
    • 0030043993 scopus 로고    scopus 로고
    • Homologous association of oppositely imprinted chromosomal domains
    • Homologous association of oppositely imprinted chromosomal domains. LaSalle J, Lalande M, Science 1996 272 725 728 10.1126/science.272.5262.725 8614834 (Pubitemid 26000278)
    • (1996) Science , vol.272 , Issue.5262 , pp. 725-728
    • LaSalle, J.M.1    Lalande, M.2
  • 25
    • 15544382113 scopus 로고    scopus 로고
    • Homologous pairing of 15q11 - 13 imprinted domains in brain is developmentally regulated but deficient in Rett and autism samples
    • DOI 10.1093/hmg/ddi073
    • Homologous pairing of 15q11-13 imprinted domains in brain is developmentally regulated but deficient in Rett and autism samples. Thatcher K, Peddada S, Yasui D, LaSalle JM, Hum Mol Genet 2005 14 785 797 10.1093/hmg/ddi073 15689352 (Pubitemid 40403275)
    • (2005) Human Molecular Genetics , vol.14 , Issue.6 , pp. 785-797
    • Thatcher, K.N.1    Peddada, S.2    Yasui, D.H.3    LaSalle, J.M.4
  • 26
    • 62149112931 scopus 로고    scopus 로고
    • Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number
    • 18835857
    • Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number. Hogart A, Leung KN, Wang NJ, Wu DJ, Driscoll J, Vallero RO, Schanen NC, LaSalle JM, J Med Genet 2009 46 86 93 18835857
    • (2009) J Med Genet , vol.46 , pp. 86-93
    • Hogart, A.1    Leung, K.N.2    Wang, N.J.3    Wu, D.J.4    Driscoll, J.5    Vallero, R.O.6    Schanen, N.C.7    Lasalle, J.M.8
  • 28
    • 0033990048 scopus 로고    scopus 로고
    • Primer3 on the WWW for general users and for biologist programmers
    • Source code available at 10547847
    • Primer3 on the WWW for general users and for biologist programmers. Rozen S, Skaletsky H, Methods Mol Biol 2000 132 365 386 Source code available at http://frodo.wi.mit.edu/primer3/ 10547847
    • (2000) Methods Mol Biol , vol.132 , pp. 365-386
    • Rozen, S.1    Skaletsky, H.2
  • 30
    • 77955869501 scopus 로고    scopus 로고
    • A single-tube quantitative high-resolution melting curve method for parent-of-origin determination of 15q duplications
    • 10.1089/gtmb.2010.0030 20642357
    • A single-tube quantitative high-resolution melting curve method for parent-of-origin determination of 15q duplications. Urraca N, Davis L, Cook EH Jr, Schanen NC, Reiter LT, Genet Test Mol Biomarkers 2010 14 571 576 10.1089/gtmb.2010.0030 20642357
    • (2010) Genet Test Mol Biomarkers , vol.14 , pp. 571-576
    • Urraca, N.1    Davis, L.2    Cook Jr., E.H.3    Schanen, N.C.4    Reiter, L.T.5
  • 31
    • 14044252235 scopus 로고    scopus 로고
    • Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3
    • DOI 10.1093/hmg/ddi045
    • Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3. Samaco RC, Hogart A, LaSalle JM, Hum Mol Genet 2005 14 483 492 15615769 (Pubitemid 40277464)
    • (2005) Human Molecular Genetics , vol.14 , Issue.4 , pp. 483-492
    • Samaco, R.C.1    Hogart, A.2    LaSalle, J.M.3
  • 32
    • 3543038182 scopus 로고    scopus 로고
    • Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: Another mechanism for partial hexasomy
    • Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: another mechanism for partial hexasomy. Mann SM, Wang NJ, Liu DH, Wang L, Schultz RA, Dorrani N, Sigman M, Schanen NC, Hum Genet 2004 115 104 111 15141347 (Pubitemid 39010924)
    • (2004) Human Genetics , vol.115 , Issue.2 , pp. 104-111
    • Mann, S.M.1    Wang, N.J.2    Liu, D.H.3    Wang, L.4    Schultz, R.A.5    Dorrani, N.6    Sigman, M.7    Schanen, N.C.8
  • 34
    • 0037098954 scopus 로고    scopus 로고
    • Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11-q13 duplications
    • Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11-q13 duplications. Herzing LBK, Cook EH, Ledbetter DH, Hum Mol Genet 2002 11 1707 1718 10.1093/hmg/11.15.1707 12095913 (Pubitemid 34812092)
    • (2002) Human Molecular Genetics , vol.11 , Issue.15 , pp. 1707-1718
    • Herzing, L.B.K.1    Cook Jr., E.H.2    Ledbetter, D.H.3
  • 35
    • 33644759438 scopus 로고    scopus 로고
    • Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin-proteasome pathway processes
    • DOI 10.1093/hmg/ddl004
    • Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin-proteasome pathway processes. Baron CA, Tepper CG, Liu SY, Davis RR, Wang NJ, Schanen NC, Gregg JP, Hum Mol Genet 2006 15 853 869 10.1093/hmg/ddl004 16446308 (Pubitemid 43338228)
    • (2006) Human Molecular Genetics , vol.15 , Issue.6 , pp. 853-869
    • Baron, C.A.1    Tepper, C.G.2    Liu, S.Y.3    Davis, R.R.4    Wang, N.J.5    Schanen, N.C.6    Gregg, J.P.7
  • 37
    • 0020489781 scopus 로고
    • Amount and distribution of 5-methylcytosine in human DNA from different types of tissues of cells
    • 10.1093/nar/10.8.2709 7079182
    • Amount and distribution of 5-methylcytosine in human DNA from different types of tissues of cells. Ehrlich M, Gama-Sosa MA, Huang LH, Midgett RM, Kuo KC, McCune RA, Gehrke C, Nucleic Acids Res 1982 10 2709 2721 10.1093/nar/10.8.2709 7079182
    • (1982) Nucleic Acids Res , vol.10 , pp. 2709-2721
    • Ehrlich, M.1    Gama-Sosa, M.A.2    Huang, L.H.3    Midgett, R.M.4    Kuo, K.C.5    McCune, R.A.6    Gehrke, C.7
  • 38
    • 80053493397 scopus 로고    scopus 로고
    • Large-scale methylation domains mark a functional subset of neuronally expressed genes
    • Large-scale methylation domains mark a functional subset of neuronally expressed genes. Schroeder DI, Lott P, Korf I, Lasalle JM, Genome Res 2011
    • (2011) Genome Res
    • Schroeder, D.I.1    Lott, P.2    Korf, I.3    Lasalle, J.M.4
  • 39
    • 66149123748 scopus 로고    scopus 로고
    • The nuclear DNA base 5-hydroxymethylcytosine is present in Purkinje neurons and the brain
    • 10.1126/science.1169786 19372393
    • The nuclear DNA base 5-hydroxymethylcytosine is present in Purkinje neurons and the brain. Kriaucionis S, Heintz N, Science 2009 324 929 930 10.1126/science.1169786 19372393
    • (2009) Science , vol.324 , pp. 929-930
    • Kriaucionis, S.1    Heintz, N.2
  • 42
    • 79955538247 scopus 로고    scopus 로고
    • Hydroxylation of 5-methylcytosine by TET1 promotes active DNA demethylation in the adult brain
    • 10.1016/j.cell.2011.03.022 21496894
    • Hydroxylation of 5-methylcytosine by TET1 promotes active DNA demethylation in the adult brain. Guo JU, Su Y, Zhong C, Ming GL, Song H, Cell 2011 145 423 434 10.1016/j.cell.2011.03.022 21496894
    • (2011) Cell , vol.145 , pp. 423-434
    • Guo, J.U.1    Su, Y.2    Zhong, C.3    Ming, G.L.4    Song, H.5
  • 44
    • 77956189495 scopus 로고    scopus 로고
    • Role of Tet proteins in 5 mC to 5 hmC conversion, ES-cell self-renewal and inner cell mass specification
    • 10.1038/nature09303 20639862
    • Role of Tet proteins in 5 mC to 5 hmC conversion, ES-cell self-renewal and inner cell mass specification. Ito S, D'Alessio AC, Taranova OV, Hong K, Sowers LC, Zhang Y, Nature 2010 466 1129 1133 10.1038/nature09303 20639862
    • (2010) Nature , vol.466 , pp. 1129-1133
    • Ito, S.1    D'Alessio, A.C.2    Taranova, O.V.3    Hong, K.4    Sowers, L.C.5    Zhang, Y.6
  • 45
    • 79960560477 scopus 로고    scopus 로고
    • The presence of 5-hydroxymethylcytosine at the gene promoter and not in the gene body negatively regulates gene expression
    • 10.1016/j.bbrc.2011.06.077 21703242
    • The presence of 5-hydroxymethylcytosine at the gene promoter and not in the gene body negatively regulates gene expression. Robertson J, Robertson AB, Klungland A, Biochem Biophys Res Commun 2011 411 40 43 10.1016/j.bbrc.2011.06. 077 21703242
    • (2011) Biochem Biophys Res Commun , vol.411 , pp. 40-43
    • Robertson, J.1    Robertson, A.B.2    Klungland, A.3
  • 47
    • 17744380972 scopus 로고    scopus 로고
    • MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression
    • DOI 10.1093/hmg/ddi097
    • MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression. Makedonski K, Abuhatzira L, Kaufman Y, Razin A, Shemer R, Hum Mol Genet 2005 14 1049 1058 10.1093/hmg/ddi097 15757975 (Pubitemid 40575880)
    • (2005) Human Molecular Genetics , vol.14 , Issue.8 , pp. 1049-1058
    • Makedonski, K.1    Abuhatzira, L.2    Kaufman, Y.3    Razin, A.4    Shemer, R.5
  • 49
    • 77958500315 scopus 로고    scopus 로고
    • Genomic copy number variation in disorders of cognitive development
    • 20970697
    • Genomic copy number variation in disorders of cognitive development. Morrow EM, J Am Acad Child Adolesc Psychiatry 2010 49 1091 1104 20970697
    • (2010) J Am Acad Child Adolesc Psychiatry , vol.49 , pp. 1091-1104
    • Morrow, E.M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.