메뉴 건너뛰기




Volumn 22, Issue 1, 2012, Pages 25-34

Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene

Author keywords

[No Author keywords available]

Indexed keywords

CHARLIE2 PROTEIN; DBT PROTEIN; DYSTROPHIN; EMD PROTEIN; HEXB PROTEIN; HRPT1 PROTEIN; IVD PROTEIN; LTR16A PROTEIN; MER5A PROTEIN; PAH PROTEIN; PCCB PROTEIN; PROTEIN KINASE LKB1; SINE PROTEIN; UNCLASSIFIED DRUG;

EID: 84855319060     PISSN: 10889051     EISSN: 15495469     Source Type: Journal    
DOI: 10.1101/gr.123463.111     Document Type: Article
Times cited : (50)

References (48)
  • 1
  • 2
    • 0042743766 scopus 로고    scopus 로고
    • Dynamics of DNA replication in mammalian somatic cells: Nucleotide pool modulates origin choice and interorigin spacing
    • DOI 10.1016/S0092-8674(03)00569-5
    • Anglana M, Apiou F, Bensimon A, Debatisse M. 2003. Dynamics of DNA replication in mammalian somatic cells: Nucleotide pool modulates origin choice and interorigin spacing. Cell 114: 385-394. (Pubitemid 36962936)
    • (2003) Cell , vol.114 , Issue.3 , pp. 385-394
    • Anglana, M.1    Apiou, F.2    Bensimon, A.3    Debatisse, M.4
  • 3
    • 61549098717 scopus 로고    scopus 로고
    • Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants
    • Arlt MF, Mulle JG, Schaibley VM, Ragland RL, Durkin SG,Warren ST, Glover TW. 2009. Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants. Am J Hum Genet 84: 339-350.
    • (2009) Am J Hum Genet , vol.84 , pp. 339-350
    • Arlt, M.F.1    Mulle, J.G.2    Schaibley, V.M.3    Ragland, R.L.4    Durkin, S.G.5    Warren, S.T.6    Glover, T.W.7
  • 4
    • 0034008103 scopus 로고    scopus 로고
    • Heterogeneity of eukaryotic replicons, replicon clusters, and replication foci
    • Berezney R, Dubey DD, Huberman JA. 2000. Heterogeneity of eukaryotic replicons, replicon clusters, and replication foci. Chromosoma 108: 471-484. (Pubitemid 30213904)
    • (2000) Chromosoma , vol.108 , Issue.8 , pp. 471-484
    • Berezney, R.1    Dubey, D.D.2    Huberman, J.A.3
  • 5
    • 20344396122 scopus 로고    scopus 로고
    • Preventing re-replication of chromosomal DNA
    • DOI 10.1038/nrm1663
    • Blow JJ, Dutta A. 2005. Preventing re-replication of chromosomal DNA. Nat Rev Mol Cell Biol 6: 476-486. (Pubitemid 40780559)
    • (2005) Nature Reviews Molecular Cell Biology , vol.6 , Issue.6 , pp. 476-486
    • Blow, J.J.1    Dutta, A.2
  • 6
    • 79957808242 scopus 로고    scopus 로고
    • Open sesame: Activating dormant replication origins in the mouse immunoglobulin heavy chain (igh) locus
    • Borowiec JA, Schildkraut CL. 2011. Open sesame: Activating dormant replication origins in the mouse immunoglobulin heavy chain (igh) locus. Curr Opin Cell Biol 23: 284-292.
    • (2011) Curr Opin Cell Biol , vol.23 , pp. 284-292
    • Borowiec, J.A.1    Schildkraut, C.L.2
  • 7
    • 77649165394 scopus 로고    scopus 로고
    • Maintaining genome stability at the replication fork
    • Branzei D, Foiani M. 2010. Maintaining genome stability at the replication fork. Nat Rev Mol Cell Biol 11: 208-219.
    • (2010) Nat Rev Mol Cell Biol , vol.11 , pp. 208-219
    • Branzei, D.1    Foiani, M.2
  • 8
    • 22844446638 scopus 로고    scopus 로고
    • Complex gene rearrangements caused by serial replication slippage
    • DOI 10.1002/humu.20202
    • Chen JM, Chuzhanova N, Stenson PD, Ferec C, Cooper DN. 2005a. Complex gene rearrangements caused by serial replication slippage. Hum Mutat 26: 125-134. (Pubitemid 41040681)
    • (2005) Human Mutation , vol.26 , Issue.2 , pp. 125-134
    • Chen, J.-M.1    Chuzhanova, N.2    Stenson, P.D.3    Ferec, C.4    Cooper, D.N.5
  • 9
    • 25444522500 scopus 로고    scopus 로고
    • Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions
    • DOI 10.1002/humu.20230
    • Chen JM, Chuzhanova N, Stenson PD, Ferec C, Cooper DN. 2005b. Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions. Hum Mutat 26: 362-373. (Pubitemid 41361804)
    • (2005) Human Mutation , vol.26 , Issue.4 , pp. 362-373
    • Chen, J.-M.1    Chuzhanova, N.2    Stenson, P.D.3    Ferec, C.4    Cooper, D.N.5
  • 10
    • 13444294231 scopus 로고    scopus 로고
    • Meta-analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage
    • DOI 10.1002/humu.20133
    • Chen JM, Chuzhanova N, Stenson PD, Ferec C, Cooper DN. 2005c. Metaanalysis of gross insertions causing human genetic disease: Novel mutationalmechanisms and the role of replication slippage. Hum Mutat 25: 207-221. (Pubitemid 40216617)
    • (2005) Human Mutation , vol.25 , Issue.2 , pp. 207-221
    • Chen, J.-M.1    Chuzhanova, N.2    Stenson, P.D.3    Ferec, C.4    Cooper, D.N.5
  • 13
    • 2942655732 scopus 로고    scopus 로고
    • Replication initiation in mammalian cells: Changing preferences
    • Debatisse M, Toledo F, Anglana M. 2004. Replication initiation in mammalian cells: Changing preferences. Cell Cycle 3: 19-21. (Pubitemid 40268578)
    • (2004) Cell Cycle , vol.3 , Issue.1 , pp. 19-21
    • Debatisse, M.1    Toledo, F.2    Anglana, M.3
  • 16
    • 64249120749 scopus 로고    scopus 로고
    • Replicon dynamics, dormant origin firing, and terminal fork integrity after double-strand break formation
    • Doksani Y, Bermejo R, Fiorani S, Haber JE, Foiani M. 2009. Replicon dynamics, dormant origin firing, and terminal fork integrity after double-strand break formation. Cell 137: 247-258.
    • (2009) Cell , vol.137 , pp. 247-258
    • Doksani, Y.1    Bermejo, R.2    Fiorani, S.3    Haber, J.E.4    Foiani, M.5
  • 18
    • 33644854652 scopus 로고    scopus 로고
    • Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene
    • DOI 10.1016/j.gene.2005.11.002, PII S0378111905006980
    • Gualandi F, Rimessi P, Trabanelli C, Spitali P, Neri M, Patarnello T, Angelini C, Yau SC, Abbs S, Muntoni F, et al. 2006. Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene. Gene 370: 26-33. (Pubitemid 43375896)
    • (2006) Gene , vol.370 , Issue.1-2 , pp. 26-33
    • Gualandi, F.1    Rimessi, P.2    Trabanelli, C.3    Spitali, P.4    Neri, M.5    Patarnello, T.6    Angelini, C.7    Yau, S.C.8    Abbs, S.9    Muntoni, F.10    Calzolari, E.11    Ferlini, A.12
  • 19
    • 59249105978 scopus 로고    scopus 로고
    • A microhomology-mediated break-induced replication model for the origin of human copy number variation
    • doi: 10.1371/journal.pgen.1000327
    • Hastings PJ, Ira G, Lupski JR. 2009a. A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet 5: e1000327. doi: 10.1371/journal.pgen.1000327.
    • (2009) PLoS Genet , vol.5
    • Hastings, P.J.1    Ira, G.2    Lupski, J.R.3
  • 21
    • 33947110984 scopus 로고    scopus 로고
    • Genome-wide localization of pre-RC sites and identification of replication origins in fission yeast
    • DOI 10.1038/sj.emboj.7601585, PII 7601585
    • Hayashi M, Katou Y, Itoh T, Tazumi A, Yamada Y, Takahashi T, Nakagawa T, Shirahige K,Masukata H. 2007. Genome-wide localization of pre-rc sites and identification of replication origins in fission yeast. EMBO J 26: 1327-1339. (Pubitemid 46398708)
    • (2007) EMBO Journal , vol.26 , Issue.5 , pp. 1327-1339
    • Hayashi, M.1    Katou, Y.2    Itoh, T.3    Tazumi, M.4    Yamada, Y.5    Takahashi, T.6    Nakagawa, T.7    Shirahige, K.8    Masukata, H.9
  • 22
    • 31844456472 scopus 로고    scopus 로고
    • Replication fork reactivation downstream of a blocked nascent leading strand
    • DOI 10.1038/nature04329, PII NATURE04329
    • Heller RC, Marians KJ. 2006. Replication fork reactivation downstream of a blocked nascent leading strand. Nature 439: 557-562. (Pubitemid 43185374)
    • (2006) Nature , vol.439 , Issue.7076 , pp. 557-562
    • Heller, R.C.1    Marians, K.J.2
  • 23
    • 12344259648 scopus 로고    scopus 로고
    • Analysis of array CGH data: From signal ratio to gain and loss of DNA regions
    • DOI 10.1093/bioinformatics/bth418
    • Hupe P, Stransky N, Thiery JP, Radvanyi F, Barillot E. 2004. Analysis of array cgh data: From signal ratio to gain and loss of DNA regions. Bioinformatics 20: 3413-3422. (Pubitemid 40136776)
    • (2004) Bioinformatics , vol.20 , Issue.18 , pp. 3413-3422
    • Hupe, P.1    Stransky, N.2    Thiery, J.-P.3    Radvanyi, F.4    Barillot, E.5
  • 26
    • 0027749608 scopus 로고
    • Replication structure of the human β-globin gene domain
    • DOI 10.1038/366588a0
    • Kitsberg D, Selig S, Keshet I, Cedar H. 1993. Replication structure of the human β-globin gene domain. Nature 366: 588-590. (Pubitemid 24036003)
    • (1993) Nature , vol.366 , Issue.6455 , pp. 588-590
    • Kitsberg, D.1    Selig, S.2    Keshet, I.3    Cedar, H.4
  • 27
    • 0023614271 scopus 로고
    • Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
    • DOI 10.1016/0092-8674(87)90504-6
    • Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. 1987. Complete cloning of the Duchenne muscular-dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50: 509-517. (Pubitemid 18098338)
    • (1987) Cell , vol.50 , Issue.3 , pp. 509-517
    • Koening, M.1    Hoffman, E.P.2    Bertelson, C.J.3    Monaco, A.P.4    Feener, C.5    Kunkel, L.M.6
  • 28
    • 0842285397 scopus 로고    scopus 로고
    • Eucaryotic genome evolution through the spontaneous duplication of large chromosomal segments
    • DOI 10.1038/sj.emboj.7600024
    • Koszul R, Caburet S, Dujon B, Fischer G. 2004. Eucaryotic genome evolution through the spontaneous duplication of large chromosomal segments. EMBO J 23: 234-243. (Pubitemid 38165763)
    • (2004) EMBO Journal , vol.23 , Issue.1 , pp. 234-243
    • Koszul, R.1    Caburet, S.2    Dujon, B.3    Fischer, G.4
  • 29
    • 37349109667 scopus 로고    scopus 로고
    • A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders
    • DOI 10.1016/j.cell.2007.11.037, PII S0092867407015413
    • Lee JA, Carvalho CMB, Lupski JR. 2007. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 131: 1235-1247. (Pubitemid 350297419)
    • (2007) Cell , vol.131 , Issue.7 , pp. 1235-1247
    • Lee, J.A.1    Carvalho, C.M.B.2    Lupski, J.R.3
  • 31
    • 29544437558 scopus 로고    scopus 로고
    • Multiple mechanisms control chromosome integrity after replication fork uncoupling and restart at irreparable UV lesions
    • DOI 10.1016/j.molcel.2005.11.015, PII S1097276505018022
    • Lopes M, Foiani M, Sogo JM. 2006. Multiple mechanisms control chromosome integrity after replication fork uncoupling and restart at irreparable UV lesions. Mol Cell 21: 15-27. (Pubitemid 43017845)
    • (2006) Molecular Cell , vol.21 , Issue.1 , pp. 15-27
    • Lopes, M.1    Foiani, M.2    Sogo, J.M.3
  • 33
    • 39049149919 scopus 로고    scopus 로고
    • DMD and IL1RAPL1: Two large adjacent genes localized within a common fragile site (FRAXC) have reduced expression in cultured brain tumors
    • DOI 10.1159/000112061
    • McAvoy S, Ganapathiraju S, Perez DS, James CD, Smith DI. 2007. DMD and IL1RAPL1: Two large adjacent genes localized within a common fragile site (FRAXC) have reduced expression in cultured brain tumors. Cytogenet Genome Res 119: 196-203. (Pubitemid 351235051)
    • (2007) Cytogenetic and Genome Research , vol.119 , Issue.3-4 , pp. 196-203
    • McAvoy, S.1    Ganapathiraju, S.2    Perez, D.S.3    James, C.D.4    Smith, D.I.5
  • 34
    • 77956118641 scopus 로고    scopus 로고
    • Copy number variation analysis in single-suture craniosynostosis: Multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis
    • Mefford HC, Shafer N, Antonacci F, Tsai JM, Park SS, Hing AV, Rieder MJ, Smyth MD, Speltz ML, Eichler EE, et al. 2010. Copy number variation analysis in single-suture craniosynostosis: Multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. Am J Med Genet A 152: 2203-2210.
    • (2010) Am J Med Genet A , vol.152 , pp. 2203-2210
    • Mefford, H.C.1    Shafer, N.2    Antonacci, F.3    Tsai, J.M.4    Park, S.S.5    Hing, A.V.6    Rieder, M.J.7    Smyth, M.D.8    Speltz, M.L.9    Eichler, E.E.10
  • 36
    • 77649236556 scopus 로고    scopus 로고
    • Spatial regulation and organization of DNA replication within the nucleus
    • Natsume T, Tanaka TU. 2010. Spatial regulation and organization of DNA replication within the nucleus. Chromosome Res 18: 7-17.
    • (2010) Chromosome Res , vol.18 , pp. 7-17
    • Natsume, T.1    Tanaka, T.U.2
  • 37
    • 0029153184 scopus 로고
    • Genomic organization of the human dystrophin gene across the major deletion hot-spot and the 3′-region
    • Nobile C, Galvagni F, Marchi J, Roberts R, Vitiello L. 1995. Genomic organization of the human dystrophin gene across the major deletion hot-spot and the 3′-region. Genomics 28: 97-100.
    • (1995) Genomics , vol.28 , pp. 97-100
    • Nobile, C.1    Galvagni, F.2    Marchi, J.3    Roberts, R.4    Vitiello, L.5
  • 39
    • 0026950937 scopus 로고
    • Two hot spots of recombination in the DMD gene correlate with the deletion prone regions
    • Oudet C, Hanauer A, Clemens P, Caskey T, Mandel J-L. 1992. Two hot spots of recombination in the DMD gene correlate with the deletion prone regions. Hum Mol Genet 1: 599-603.
    • (1992) Hum Mol Genet , vol.1 , pp. 599-603
    • Oudet, C.1    Hanauer, A.2    Clemens, P.3    Caskey, T.4    Mandel, J.-L.5
  • 42
    • 0022256461 scopus 로고
    • Mechanisms of nonhomologous recombination in mammalian-cells
    • Roth DB, Porter TN, Wilson JH. 1985. Mechanisms of nonhomologous recombination in mammalian-cells. Mol Cell Biol 5: 2599-2607.
    • (1985) Mol Cell Biol , vol.5 , pp. 2599-2607
    • Roth, D.B.1    Porter, T.N.2    Wilson, J.H.3
  • 43
    • 84855325677 scopus 로고    scopus 로고
    • Well-characterized rearrangement-based diseases and genome structural features at the locus
    • Humana Press, Totowa, NJ
    • Stankiewicz P, Lupski JR. 2006. Well-characterized rearrangement-based diseases and genome structural features at the locus. In Genomic disorders: The genomic basis of disease, pp. 403-406. Humana Press, Totowa, NJ.
    • (2006) Genomic Disorders: The Genomic Basis of Disease , pp. 403-406
    • Stankiewicz, P.1    Lupski, J.R.2
  • 44
    • 0031260080 scopus 로고    scopus 로고
    • Mapping of replication origins and termination sites in the duchenne muscular dystrophy gene
    • DOI 10.1006/geno.1997.4875
    • Verbovaia LV, Razin SV. 1997. Mapping of replication origins and termination sites in the Duchenne muscular dystrophy gene. Genomics 45: 24-30. (Pubitemid 27449380)
    • (1997) Genomics , vol.45 , Issue.1 , pp. 24-30
    • Verbovaia, L.V.1    Razin, S.V.2
  • 47
    • 4544362838 scopus 로고    scopus 로고
    • The mechanism of non-homologous end-joining: A synopsis of synapsis
    • DOI 10.1016/j.dnarep.2004.06.003, PII S156878640400179X
    • Weterings E, van Gent DC. 2004. The mechanism of non-homologous endjoining: A synopsis of synapsis. DNA Repair (Amst) 3: 1425-1435. (Pubitemid 39221740)
    • (2004) DNA Repair , vol.3 , Issue.11 , pp. 1425-1435
    • Weterings, E.1    Van Gent, D.C.2
  • 48
    • 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, Lupski JR. 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    Lupski, J.R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.