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Volumn 44, Issue 4, 2012, Pages 390-397

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

(25)  Chiang, Colby a   Jacobsen, Jessie C a,b   Ernst, Carl a,b,j   Hanscom, Carrie a   Heilbut, Adrian a   Blumenthal, Ian a   Mills, Ryan E c   Kirby, Andrew a,d   Lindgren, Amelia M c   Rudiger, Skye R e   McLaughlan, Clive J e   Bawden, C Simon e   Reid, Suzanne J f,g   Faull, Richard L M f   Snell, Russell G f,g   Hall, Ira M h   Shen, Yiping a,i   Ohsumi, Toshiro K a   Borowsky, Mark L a   Daly, Mark J a,d   more..


Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME ABERRATION; CHROMOSOME BREAKAGE; CHROMOSOME REARRANGEMENT; COPY NUMBER VARIATION; DNA END JOINING REPAIR; DNA SEQUENCE; DNA STRAND BREAKAGE; DOUBLE STRANDED DNA BREAK; GENE DELETION; GENE SWITCHING; GENOME; GERM LINE; HIGH THROUGHPUT SEQUENCING; HOMOLOGOUS RECOMBINATION; HUMAN; KARYOTYPING; MAJOR CLINICAL STUDY; MOUSE; NONHUMAN; PRIORITY JOURNAL; TRANSGENE; TRANSGENIC ANIMAL;

EID: 84862777955     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2202     Document Type: Article
Times cited : (209)

References (41)
  • 1
    • 2642570858 scopus 로고    scopus 로고
    • Mechanisms of DNA double strand break repair and chromosome aberration formation
    • Iliakis, G. et al. Mechanisms of DNA double strand break repair and chromosome aberration formation. Cytogenet. Genome Res. 104, 14-20 (2004).
    • (2004) Cytogenet. Genome Res. , vol.104 , pp. 14-20
    • Iliakis, G.1
  • 2
    • 34547664096 scopus 로고    scopus 로고
    • Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes
    • Lupski, J.R. & Stankiewicz, P. Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet. 1, e49 (2005).
    • (2005) PLoS Genet. , vol.1
    • Lupski, J.R.1    Stankiewicz, P.2
  • 3
    • 67650001851 scopus 로고    scopus 로고
    • Complex human chromosomal and genomic rearrangements
    • Zhang, F., Carvalho, C.M. & Lupski, J.R. Complex human chromosomal and genomic rearrangements. Trends Genet. 25, 298-307 (2009).
    • (2009) Trends Genet. , vol.25 , pp. 298-307
    • Zhang, F.1    Carvalho, C.M.2    Lupski, J.R.3
  • 4
    • 37349109667 scopus 로고    scopus 로고
    • DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
    • Lee, J.A., Carvalho, C.M. & Lupski, J.R.A. DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 131, 1235-1247 (2007).
    • (2007) Cell , vol.131 , pp. 1235-1247
    • Lee, J.A.1    Carvalho, C.M.2    Lupski, J.R.A.3
  • 5
    • 59249105978 scopus 로고    scopus 로고
    • A microhomology-mediated break-induced replication model for the origin of human copy number variation
    • Hastings, P.J., Ira, G. & Lupski, J.R. A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet. 5, e1000327 (2009).
    • (2009) PLoS Genet. , vol.5
    • Hastings, P.J.1    Ira, G.2    Lupski, J.R.3
  • 6
    • 37249022297 scopus 로고    scopus 로고
    • Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: A study of 59 patients
    • De Gregori, M. et al. Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J. Med. Genet. 44, 750-762 (2007).
    • (2007) J. Med. Genet. , vol.44 , pp. 750-762
    • De Gregori, M.1
  • 7
    • 61449229325 scopus 로고    scopus 로고
    • De novo balanced chromosome rearrangements in prenatal diagnosis
    • Giardino, D. et al. De novo balanced chromosome rearrangements in prenatal diagnosis. Prenat. Diagn. 29, 257-265 (2009).
    • (2009) Prenat. Diagn. , vol.29 , pp. 257-265
    • Giardino, D.1
  • 8
    • 44349191457 scopus 로고    scopus 로고
    • Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing
    • Campbell, P.J. et al. Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat. Genet. 40, 722-729 (2008).
    • (2008) Nat. Genet. , vol.40 , pp. 722-729
    • Campbell, P.J.1
  • 9
    • 78650959663 scopus 로고    scopus 로고
    • Massive genomic rearrangement acquired in a single catastrophic event during cancer development
    • Stephens, P.J. et al. Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell 144, 27-40 (2011).
    • (2011) Cell , vol.144 , pp. 27-40
    • Stephens, P.J.1
  • 10
    • 79951497419 scopus 로고    scopus 로고
    • The genomic complexity of primary human prostate cancer
    • Berger, M.F. et al. The genomic complexity of primary human prostate cancer. Nature 470, 214-220 (2011).
    • (2011) Nature , vol.470 , pp. 214-220
    • Berger, M.F.1
  • 11
    • 79960693423 scopus 로고    scopus 로고
    • Chromothripsis identifies a rare and aggressive entity among newly diagnosed multiple myeloma patients
    • Magrangeas, F., Avet-Loiseau, H., Munshi, N.C. & Minvielle, S. Chromothripsis identifies a rare and aggressive entity among newly diagnosed multiple myeloma patients. Blood 118, 675-678 (2011).
    • (2011) Blood , vol.118 , pp. 675-678
    • Magrangeas, F.1    Avet-Loiseau, H.2    Munshi, N.C.3    Minvielle, S.4
  • 12
    • 79955416773 scopus 로고    scopus 로고
    • Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline
    • Kloosterman, W.P. et al. Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline. Hum. Mol. Genet. 20, 1916-1924 (2011).
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 1916-1924
    • Kloosterman, W.P.1
  • 13
    • 77950461601 scopus 로고    scopus 로고
    • Origins and functional impact of copy number variation in the human genome
    • Conrad, D.F. et al. Origins and functional impact of copy number variation in the human genome. Nature 464, 704-712 (2010).
    • (2010) Nature , vol.464 , pp. 704-712
    • Conrad, D.F.1
  • 14
    • 77951700086 scopus 로고    scopus 로고
    • Mutation spectrum revealed by breakpoint sequencing of human germline CNVs
    • Conrad, D.F. et al. Mutation spectrum revealed by breakpoint sequencing of human germline CNVs. Nat. Genet. 42, 385-391 (2010).
    • (2010) Nat. Genet. , vol.42 , pp. 385-391
    • Conrad, D.F.1
  • 15
    • 84975804424 scopus 로고    scopus 로고
    • Mapping copy number variation by population-scale genome sequencing
    • Mills, R.E. et al. Mapping copy number variation by population-scale genome sequencing. Nature 470, 59-65 (2011).
    • (2011) Nature , vol.470 , pp. 59-65
    • Mills, R.E.1
  • 16
    • 38049115657 scopus 로고    scopus 로고
    • The mechanism of human nonhomologous DNA end joining
    • Lieber, M.R. The mechanism of human nonhomologous DNA end joining. J. Biol. Chem. 283, 1-5 (2008).
    • (2008) J. Biol. Chem. , vol.283 , pp. 1-5
    • Lieber, M.R.1
  • 17
    • 46249131123 scopus 로고    scopus 로고
    • Alternative-NHEJ is a mechanistically distinct pathway of mammalian chromosome break repair
    • Bennardo, N., Cheng, A., Huang, N. & Stark, J.M. Alternative-NHEJ is a mechanistically distinct pathway of mammalian chromosome break repair. PLoS Genet. 4, e1000110 (2008).
    • (2008) PLoS Genet. , vol.4
    • Bennardo, N.1    Cheng, A.2    Huang, N.3    Stark, J.M.4
  • 18
    • 79953724351 scopus 로고    scopus 로고
    • Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research
    • Talkowski, M.E. et al. Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research. Am. J. Hum. Genet. 88, 469-481 (2011).
    • (2011) Am. J. Hum. Genet. , vol.88 , pp. 469-481
    • Talkowski, M.E.1
  • 19
    • 80053931230 scopus 로고    scopus 로고
    • Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder
    • Talkowski, M.E. et al. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am. J. Hum. Genet. 89, 551-563 (2011).
    • (2011) Am. J. Hum. Genet. , vol.89 , pp. 551-563
    • Talkowski, M.E.1
  • 20
    • 0035093737 scopus 로고    scopus 로고
    • DNA double-strand breaks: Signaling, repair and the cancer connection
    • Khanna, K.K. & Jackson, S.P. DNA double-strand breaks: signaling, repair and the cancer connection. Nat. Genet. 27, 247-254 (2001).
    • (2001) Nat. Genet. , vol.27 , pp. 247-254
    • Khanna, K.K.1    Jackson, S.P.2
  • 21
    • 79953224831 scopus 로고    scopus 로고
    • Comparison of constitutional and replication stress-induced genome structural variation by SNP array and mate-pair sequencing
    • Arlt, M.F. et al. Comparison of constitutional and replication stress-induced genome structural variation by SNP array and mate-pair sequencing. Genetics 187, 675-683 (2011).
    • (2011) Genetics , vol.187 , pp. 675-683
    • Arlt, M.F.1
  • 22
    • 2942533342 scopus 로고    scopus 로고
    • Illegitimate DNA integration in mammalian cells
    • Würtele, H., Little, K.C. & Chartrand, P. Illegitimate DNA integration in mammalian cells. Gene Ther. 10, 1791-1799 (2003).
    • (2003) Gene Ther. , vol.10 , pp. 1791-1799
    • Würtele, H.1    Little, K.C.2    Chartrand, P.3
  • 23
    • 16044373842 scopus 로고    scopus 로고
    • Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice
    • Mangiarini, L. et al. Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87, 493-506 (1996).
    • (1996) Cell , vol.87 , pp. 493-506
    • Mangiarini, L.1
  • 24
    • 77952526316 scopus 로고    scopus 로고
    • An ovine transgenic Huntington's disease model
    • Jacobsen, J.C. et al. An ovine transgenic Huntington's disease model. Hum. Mol. Genet. 19, 1873-1882 (2010).
    • (2010) Hum. Mol. Genet. , vol.19 , pp. 1873-1882
    • Jacobsen, J.C.1
  • 25
    • 79251493015 scopus 로고    scopus 로고
    • A human genome structural variation sequencing resource reveals insights into mutational mechanisms
    • Kidd, J.M. et al. A human genome structural variation sequencing resource reveals insights into mutational mechanisms. Cell 143, 837-847 (2010).
    • (2010) Cell , vol.143 , pp. 837-847
    • Kidd, J.M.1
  • 26
    • 74049093136 scopus 로고    scopus 로고
    • Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library
    • Lam, H.Y. et al. Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library. Nat. Biotechnol. 28, 47-55 (2010).
    • (2010) Nat. Biotechnol. , vol.28 , pp. 47-55
    • Lam, H.Y.1
  • 27
    • 34249907843 scopus 로고    scopus 로고
    • Non-B DNA conformations, mutagenesis and disease
    • Wells, R.D. Non-B DNA conformations, mutagenesis and disease. Trends Biochem. Sci. 32, 271-278 (2007).
    • (2007) Trends Biochem. Sci. , vol.32 , pp. 271-278
    • Wells, R.D.1
  • 28
    • 65249186097 scopus 로고    scopus 로고
    • Non-B DNA conformations as determinants of mutagenesis and human disease
    • Bacolla, A. & Wells, R.D. Non-B DNA conformations as determinants of mutagenesis and human disease. Mol. Carcinog. 48, 273-285 (2009).
    • (2009) Mol. Carcinog. , vol.48 , pp. 273-285
    • Bacolla, A.1    Wells, R.D.2
  • 29
    • 2542482661 scopus 로고    scopus 로고
    • Delineation of complex chromosomal rearrangements: Evidence for increased complexity
    • Astbury, C. et al. Delineation of complex chromosomal rearrangements: evidence for increased complexity. Hum. Genet. 114, 448-457 (2004).
    • (2004) Hum. Genet. , vol.114 , pp. 448-457
    • Astbury, C.1
  • 30
    • 70350504156 scopus 로고    scopus 로고
    • What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate
    • Vanneste, E. et al. What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate. Hum. Reprod. 24, 2679-2682 (2009).
    • (2009) Hum. Reprod. , vol.24 , pp. 2679-2682
    • Vanneste, E.1
  • 31
    • 80052916562 scopus 로고    scopus 로고
    • Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements
    • Liu, P. et al. Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell 146, 889-903 (2011).
    • (2011) Cell , vol.146 , pp. 889-903
    • Liu, P.1
  • 32
    • 78651478345 scopus 로고    scopus 로고
    • Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes
    • Ou, Z. et al. Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes. Genome Res. 21, 33-46 (2011).
    • (2011) Genome Res. , vol.21 , pp. 33-46
    • Ou, Z.1
  • 33
    • 41149106868 scopus 로고    scopus 로고
    • Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project
    • Higgins, A.W. et al. Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am. J. Hum. Genet 82, 712-722 (2008).
    • (2008) Am. J. Hum. Genet. , vol.82 , pp. 712-722
    • Higgins, A.W.1
  • 34
    • 35348988679 scopus 로고    scopus 로고
    • Paired-end mapping reveals extensive structural variation in the human genome
    • Korbel, J.O. et al. Paired-end mapping reveals extensive structural variation in the human genome. Science 318, 420-426 (2007).
    • (2007) Science , vol.318 , pp. 420-426
    • Korbel, J.O.1
  • 35
    • 55549089660 scopus 로고    scopus 로고
    • Accurate whole human genome sequencing using reversible terminator chemistry
    • Bentley, D.R. et al. Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456, 53-59 (2008).
    • (2008) Nature , vol.456 , pp. 53-59
    • Bentley, D.R.1
  • 36
    • 0034284437 scopus 로고    scopus 로고
    • Repbase update: A database and an electronic journal of repetitive elements
    • Jurka, J. Repbase update: a database and an electronic journal of repetitive elements. Trends Genet. 16, 418-420 (2000).
    • (2000) Trends Genet. , vol.16 , pp. 418-420
    • Jurka, J.1
  • 37
    • 55549097836 scopus 로고    scopus 로고
    • Mapping short DNA sequencing reads and calling variants using mapping quality scores
    • Li, H., Ruan, J. & Durbin, R. Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res. 18, 1851-1858 (2008).
    • (2008) Genome Res. , vol.18 , pp. 1851-1858
    • Li, H.1    Ruan, J.2    Durbin, R.3
  • 38
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754-1760 (2009).
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 39
    • 68549104404 scopus 로고    scopus 로고
    • The Sequence Alignment/Map format and SAMtools
    • Li, H. et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics 25, 2078-2079 (2009).
    • (2009) Bioinformatics , vol.25 , pp. 2078-2079
    • Li, H.1
  • 40
    • 43149115851 scopus 로고    scopus 로고
    • Velvet: Algorithms for de novo short read assembly using de Bruijn graphs
    • Zerbino, D.R. & Birney, E. Velvet: algorithms for de novo short read assembly using de Bruijn graphs. Genome Res. 18, 821-829 (2008).
    • (2008) Genome Res. , vol.18 , pp. 821-829
    • Zerbino, D.R.1    Birney, E.2
  • 41
    • 77951770756 scopus 로고    scopus 로고
    • BEDTools: A flexible suite of utilities for comparing genomic features
    • Quinlan, A.R. & Hall, I.M. BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics 26, 841-842 (2010).
    • (2010) Bioinformatics , vol.26 , pp. 841-842
    • Quinlan, A.R.1    Hall, I.M.2


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