메뉴 건너뛰기




Volumn 5, Issue 1, 2012, Pages

A recurrent translocation is mediated by homologous recombination between HERV-H elements

Author keywords

18q; 18q22.3; 4q35.1; HERV; HERV H; NAHR; recurrent translocation; t(4; 18); translocation

Indexed keywords

ALLELE; ARTICLE; CHROMOSOME 18Q; CHROMOSOME 4Q; CHROMOSOME BREAKAGE; CHROMOSOME TRANSLOCATION 18; CHROMOSOME TRANSLOCATION 4; COMPARATIVE GENOMIC HYBRIDIZATION; ENDOGENOUS RETROVIRUS; HOMOLOGOUS RECOMBINATION; HUMAN; INTELLECTUAL IMPAIRMENT; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84855869669     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/1755-8166-5-6     Document Type: Article
Times cited : (18)

References (47)
  • 1
    • 33746167778 scopus 로고    scopus 로고
    • Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases
    • DOI 10.1016/j.jpeds.2006.02.006, PII S0022347606001053
    • Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. Shaffer LG, Kashork CD, Saleki R, Rorem E, Sundin K, Ballif BC, Bejjani BA, J Pediatr 2006 149 98 102 10.1016/j.jpeds.2006.02.006 16860135 (Pubitemid 44081919)
    • (2006) Journal of Pediatrics , vol.149 , Issue.1
    • Shaffer, L.G.1    Kashork, C.D.2    Saleki, R.3    Rorem, E.4    Sundin, K.5    Ballif, B.C.6    Bejjani, B.A.7
  • 3
    • 80052588672 scopus 로고    scopus 로고
    • An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities
    • 10.1097/GIM.0b013e31822c79f9 21844811
    • An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, et al. Genetics in medicine 2011 13 777 784 10.1097/GIM.0b013e31822c79f9 21844811
    • (2011) Genetics in Medicine , vol.13 , pp. 777-784
    • Kaminsky, E.B.1    Kaul, V.2    Paschall, J.3    Church, D.M.4    Bunke, B.5    Kunig, D.6    Moreno-De-Luca, D.7    Moreno-De-Luca, A.8    Mulle, J.G.9    Warren, S.T.10
  • 9
    • 68649123353 scopus 로고    scopus 로고
    • Duplication hotspots, rare genomic disorders, and common disease
    • 10.1016/j.gde.2009.04.003 19477115
    • Duplication hotspots, rare genomic disorders, and common disease. Mefford HC, Eichler EE, Curr Opin Genet Dev 2009 19 196 204 10.1016/j.gde.2009.04.003 19477115
    • (2009) Curr Opin Genet Dev , vol.19 , pp. 196-204
    • Mefford, H.C.1    Eichler, E.E.2
  • 10
    • 0031731487 scopus 로고    scopus 로고
    • Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
    • DOI 10.1016/S0168-9525(98)01555-8
    • Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Lupski JR, Trends Genet 1998 14 417 422 10.1016/S0168-9525(98)01555-8 9820031 (Pubitemid 28505586)
    • (1998) Trends in Genetics , vol.14 , Issue.10 , pp. 417-422
    • Lupski, J.R.1
  • 11
    • 0036468807 scopus 로고    scopus 로고
    • Genome architecture, rearrangements and genomic disorders
    • DOI 10.1016/S0168-9525(02)02592-1, PII S0168952501025926
    • Genome architecture, rearrangements and genomic disorders. Stankiewicz P, Lupski JR, Trends Genet 2002 18 74 82 10.1016/S0168-9525(02)02592-1 11818139 (Pubitemid 34127806)
    • (2002) Trends in Genetics , vol.18 , Issue.2 , pp. 74-82
    • Stankiewicz, P.1    Lupski, J.R.2
  • 14
    • 55549114047 scopus 로고    scopus 로고
    • Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: Modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype
    • 10.1002/ajmg.a.32516 18798325
    • Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype. South ST, Whitby H, Maxwell T, Aston E, Brothman AR, Carey JC, Am J Med Genet A 2008 146A 2691 2697 10.1002/ajmg.a.32516 18798325
    • (2008) Am J Med Genet A , vol.146 , pp. 2691-2697
    • South, S.T.1    Whitby, H.2    Maxwell, T.3    Aston, E.4    Brothman, A.R.5    Carey, J.C.6
  • 15
    • 78651478345 scopus 로고    scopus 로고
    • Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes
    • 10.1101/gr.111609.110 21205869
    • Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes. Ou Z, Stankiewicz P, Xia Z, Breman AM, Dawson B, Wiszniewska J, Szafranski P, Cooper ML, Rao M, Shao L, et al. Genome Res 2011 21 33 46 10.1101/gr.111609.110 21205869
    • (2011) Genome Res , vol.21 , pp. 33-46
    • Ou, Z.1    Stankiewicz, P.2    Xia, Z.3    Breman, A.M.4    Dawson, B.5    Wiszniewska, J.6    Szafranski, P.7    Cooper, M.L.8    Rao, M.9    Shao, L.10
  • 16
    • 0034234453 scopus 로고    scopus 로고
    • Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22)
    • Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22). Kurahashi H, Shaikh TH, Hu P, Roe BA, Emanuel BS, Budarf ML, Hum Mol Genet 2000 9 1665 1670 10.1093/hmg/9.11.1665 10861293 (Pubitemid 30427003)
    • (2000) Human Molecular Genetics , vol.9 , Issue.11 , pp. 1665-1670
    • Kurahashi, H.1    Shaikh, T.H.2    Hu, P.3    Roe, B.A.4    Emanuel, B.S.5    Budarf, M.L.6
  • 18
    • 55549126844 scopus 로고    scopus 로고
    • Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13)
    • 10.1101/gr.077453.108 18765821
    • Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13). Gajecka M, Gentles AJ, Tsai A, Chitayat D, Mackay KL, Glotzbach CD, Lieber MR, Shaffer LG, Genome Res 2008 18 1733 1742 10.1101/gr.077453.108 18765821
    • (2008) Genome Res , vol.18 , pp. 1733-1742
    • Gajecka, M.1    Gentles, A.J.2    Tsai, A.3    Chitayat, D.4    MacKay, K.L.5    Glotzbach, C.D.6    Lieber, M.R.7    Shaffer, L.G.8
  • 21
    • 0036250811 scopus 로고    scopus 로고
    • Alu repeats and human genomic diversity
    • DOI 10.1038/nrg798
    • Alu repeats and human genomic diversity. Batzer MA, Deininger PL, Nat Rev Genet 2002 3 370 379 10.1038/nrg798 11988762 (Pubitemid 34506718)
    • (2002) Nature Reviews Genetics , vol.3 , Issue.5 , pp. 370-379
    • Batzer, M.A.1    Deininger, P.L.2
  • 23
    • 0043264447 scopus 로고    scopus 로고
    • Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs
    • DOI 10.1002/humu.10254
    • Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs. Abeysinghe SS, Chuzhanova N, Krawczak M, Ball EV, Cooper DN, Human mutation 2003 22 229 244 10.1002/humu.10254 12938088 (Pubitemid 37071640)
    • (2003) Human Mutation , vol.22 , Issue.3 , pp. 229-244
    • Abeysinghe, S.S.1    Chuzhanova, N.2    Krawczak, M.3    Ball, E.V.4    Cooper, D.N.5
  • 24
    • 0023646823 scopus 로고
    • A sex chromosome rearrangement in a human XX male caused by Alu-Alu recombination
    • 10.1016/0092-8674(87)90637-4 2822256
    • A sex chromosome rearrangement in a human XX male caused by Alu-Alu recombination. Rouyer F, Simmler MC, Page DC, Weissenbach J, Cell 1987 51 417 425 10.1016/0092-8674(87)90637-4 2822256
    • (1987) Cell , vol.51 , pp. 417-425
    • Rouyer, F.1    Simmler, M.C.2    Page, D.C.3    Weissenbach, J.4
  • 25
    • 0021918948 scopus 로고
    • Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains
    • Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains. Lehrman MA, Schneider WJ, Sudhof TC, Brown MS, Goldstein JL, Russell DW, Science 1985 227 140 146 10.1126/science.3155573 3155573 (Pubitemid 15154219)
    • (1985) Science , vol.227 , Issue.4683 , pp. 140-146
    • Lehrman, M.A.1    Schneider, W.J.2    Sudhof, T.C.3
  • 26
    • 0028028057 scopus 로고
    • Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome
    • Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome. Pousi B, Hautala T, Heikkinen J, Pajunen L, Kivirikko KI, Myllyla R, Am J Hum Genet 1994 55 899 906 7977351 (Pubitemid 24334281)
    • (1994) American Journal of Human Genetics , vol.55 , Issue.5 , pp. 899-906
    • Pousi, B.1    Hautala, T.2    Heikkinen, J.3    Pajunen, L.4    Kivirikko, K.I.5    Myllyla, R.6
  • 27
    • 0034703178 scopus 로고    scopus 로고
    • Deletion of azoospermia factor a (AZFa) region of human y chromosome caused by recombination between HERV15 proviruses
    • 11001932
    • Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. Sun C, Skaletsky H, Rozen S, Gromoll J, Nieschlag E, Oates R, Page DC, Hum Mol Genet 2000 9 2291 2296 11001932
    • (2000) Hum Mol Genet , vol.9 , pp. 2291-2296
    • Sun, C.1    Skaletsky, H.2    Rozen, S.3    Gromoll, J.4    Nieschlag, E.5    Oates, R.6    Page, D.C.7
  • 28
    • 0034641881 scopus 로고    scopus 로고
    • Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events
    • 10.1093/hmg/9.17.2563 11030762
    • Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events. Kamp C, Hirschmann P, Voss H, Huellen K, Vogt PH, Hum Mol Genet 2000 9 2563 2572 10.1093/hmg/9.17.2563 11030762
    • (2000) Hum Mol Genet , vol.9 , pp. 2563-2572
    • Kamp, C.1    Hirschmann, P.2    Voss, H.3    Huellen, K.4    Vogt, P.H.5
  • 29
    • 0033785321 scopus 로고    scopus 로고
    • Divergent outcomes of intrachromosomal recombination on the human y chromosome: Male infertility and recurrent polymorphism
    • 10.1136/jmg.37.10.752 11015452
    • Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism. Blanco P, Shlumukova M, Sargent CA, Jobling MA, Affara N, Hurles ME, J Med Genet 2000 37 752 758 10.1136/jmg.37.10.752 11015452
    • (2000) J Med Genet , vol.37 , pp. 752-758
    • Blanco, P.1    Shlumukova, M.2    Sargent, C.A.3    Jobling, M.A.4    Affara, N.5    Hurles, M.E.6
  • 32
    • 0036088127 scopus 로고    scopus 로고
    • HERVd: Database of human endogenous retroviruses
    • HERVd: database of human endogenous retroviruses. Paces J, Pavlicek A, Paces V, Nucleic Acids Res 2002 30 205 206 10.1093/nar/30.1.205 11752294 (Pubitemid 34679543)
    • (2002) Nucleic Acids Research , vol.30 , Issue.1 , pp. 205-206
    • Paces, J.1    Pavlicacek, A.2    Paces, V.3
  • 33
    • 0031105512 scopus 로고    scopus 로고
    • Our retroviral heritage
    • DOI 10.1016/S0168-9525(97)01057-3, PII S0168952597010573
    • Our retroviral heritage. Patience C, Wilkinson DA, Weiss RA, Trends Genet 1997 13 116 120 10.1016/S0168-9525(97)01057-3 9066271 (Pubitemid 27135116)
    • (1997) Trends in Genetics , vol.13 , Issue.3 , pp. 116-120
    • Patience, C.1    Wilkinson, D.A.2    Weiss, R.A.3
  • 34
    • 0035797901 scopus 로고    scopus 로고
    • Insertional polymorphisms of full-length endogenous retroviruses in humans
    • DOI 10.1016/S0960-9822(01)00455-9
    • Insertional polymorphisms of full-length endogenous retroviruses in humans. Turner G, Barbulescu M, Su M, Jensen-Seaman MI, Kidd KK, Lenz J, Curr Biol 2001 11 1531 1535 10.1016/S0960-9822(01)00455-9 11591322 (Pubitemid 32931016)
    • (2001) Current Biology , vol.11 , Issue.19 , pp. 1531-1535
    • Turner, G.1    Barbulescu, M.2    Su, M.3    Jensen-Seaman, M.I.4    Kidd, K.K.5    Lenz, J.6
  • 36
    • 0035734951 scopus 로고    scopus 로고
    • Evidence for genomic rearrangements mediated by human endogenous retroviruses during primate evolution
    • DOI 10.1038/ng775
    • Evidence for genomic rearrangements mediated by human endogenous retroviruses during primate evolution. Hughes JF, Coffin JM, Nat Genet 2001 29 487 489 10.1038/ng775 11704760 (Pubitemid 34326703)
    • (2001) Nature Genetics , vol.29 , Issue.4 , pp. 487-489
    • Hughes, J.F.1    Coffin, J.M.2
  • 37
    • 31144439046 scopus 로고    scopus 로고
    • Human endogenous retroviral elements as indicators of ectopic recombination events in the primate genome
    • DOI 10.1534/genetics.105.043976
    • Human endogenous retroviral elements as indicators of ectopic recombination events in the primate genome. Hughes JF, Coffin JM, Genetics 2005 171 1183 1194 10.1534/genetics.105.043976 16157677 (Pubitemid 43234850)
    • (2005) Genetics , vol.171 , Issue.3 , pp. 1183-1194
    • Hughes, J.F.1    Coffin, J.M.2
  • 40
    • 0027270872 scopus 로고
    • Presence of env genes in members of the RTVL-H family of human endogenous retrovirus-like elements
    • 10.1006/viro.1993.1007 8517031
    • Presence of env genes in members of the RTVL-H family of human endogenous retrovirus-like elements. Hirose Y, Takamatsu M, Harada F, Virology 1993 192 52 61 10.1006/viro.1993.1007 8517031
    • (1993) Virology , vol.192 , pp. 52-61
    • Hirose, Y.1    Takamatsu, M.2    Harada, F.3
  • 41
    • 0029047999 scopus 로고
    • Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions
    • 10.1093/hmg/4.7.1217 8528212
    • Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions. Naylor JA, Buck D, Green P, Williamson H, Bentley D, Giannelli F, Hum Mol Genet 1995 4 1217 1224 10.1093/hmg/4.7.1217 8528212
    • (1995) Hum Mol Genet , vol.4 , pp. 1217-1224
    • Naylor, J.A.1    Buck, D.2    Green, P.3    Williamson, H.4    Bentley, D.5    Giannelli, F.6
  • 42
    • 0030871024 scopus 로고    scopus 로고
    • The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs
    • DOI 10.1093/hmg/6.9.1595
    • The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Reiter LT, Murakami T, Koeuth T, Gibbs RA, Lupski JR, Hum Mol Genet 1997 6 1595 1603 10.1093/hmg/6.9.1595 9285799 (Pubitemid 27397039)
    • (1997) Human Molecular Genetics , vol.6 , Issue.9 , pp. 1595-1603
    • Reiter, L.T.1    Murakami, T.2    Koeuth, T.3    Gibbs, R.A.4    Lupski, J.R.5
  • 43
    • 0036407262 scopus 로고    scopus 로고
    • Molecular mechanisms for genomic disorders
    • DOI 10.1146/annurev.genom.3.032802.120023
    • Molecular mechanisms for genomic disorders. Inoue K, Lupski JR, Annu Rev Genomics Hum Genet 2002 3 199 242 10.1146/annurev.genom.3.032802.120023 12142364 (Pubitemid 35217436)
    • (2002) Annual Review of Genomics and Human Genetics , vol.3 , pp. 199-242
    • Inoue, K.1    Lupski, J.R.2
  • 44
    • 79251493015 scopus 로고    scopus 로고
    • A human genome structural variation sequencing resource reveals insights into mutational mechanisms
    • 10.1016/j.cell.2010.10.027 21111241
    • A human genome structural variation sequencing resource reveals insights into mutational mechanisms. Kidd JM, Graves T, Newman TL, Fulton R, Hayden HS, Malig M, Kallicki J, Kaul R, Wilson RK, Eichler EE, Cell 2010 143 837 847 10.1016/j.cell.2010.10.027 21111241
    • (2010) Cell , vol.143 , pp. 837-847
    • Kidd, J.M.1    Graves, T.2    Newman, T.L.3    Fulton, R.4    Hayden, H.S.5    Malig, M.6    Kallicki, J.7    Kaul, R.8    Wilson, R.K.9    Eichler, E.E.10
  • 46
    • 0036226603 scopus 로고    scopus 로고
    • BLAT - The BLAST-like alignment tool
    • DOI 10.1101/gr.229202. Article published online before March 2002
    • BLAT - the BLAST-like alignment tool. Kent WJ, Genome Res 2002 12 656 664 11932250 (Pubitemid 34308645)
    • (2002) Genome Research , vol.12 , Issue.4 , pp. 656-664
    • Kent, W.J.1
  • 47
    • 0033555906 scopus 로고    scopus 로고
    • Tandem repeats finder: A program to analyze DNA sequences
    • DOI 10.1093/nar/27.2.573
    • Tandem repeats finder: a program to analyze DNA sequences. Benson G, Nucleic Acids Res 1999 27 573 580 10.1093/nar/27.2.573 9862982 (Pubitemid 29210025)
    • (1999) Nucleic Acids Research , vol.27 , Issue.2 , pp. 573-580
    • Benson, G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.