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Cited by 818Genomic variations and chromosomal abnormalitiesDNA Repair MechanismsGenome Rearrangement Algorithms

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

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Hastings, P. J., Ira, Grzegorz, Lupski, James R.·2009·PLoS Genetics
DOI 10.1371/journal.pgen.1000327PMC PMC2621351
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Abstract

Chromosome structural changes with nonrecurrent endpoints associated with genomic disorders offer windows into the mechanism of origin of copy number variation (CNV). A recent report of nonrecurrent duplications associated with Pelizaeus-Merzbacher disease identified three distinctive characteristics. First, the majority of events can be seen to be complex, showing discontinuous duplications mixed with deletions, inverted duplications, and triplications. Second, junctions at endpoints show microhomology of 2-5 base pairs (bp). Third, endpoints occur near pre-existing low copy repeats (LCRs). Using these observations and evidence from DNA repair in other organisms, we derive a model of microhomology-mediated break-induced replication (MMBIR) for the origin of CNV and, ultimately, of LCRs. We propose that breakage of replication forks in stressed cells that are deficient in homologous recombination induces an aberrant repair process with features of break-induced replication (BIR). Under these circumstances, single-strand 3' tails from broken replication forks will anneal with microhomology on any single-stranded DNA nearby, priming low-processivity polymerization with multiple template switches generating complex rearrangements, and eventual re-establishment of processive replication.

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  • Microhomology-mediated break-induced replication underlies copy number variation in mammalian cells.

    “Moreover, microhomology-mediated break-induced replication underlies copy number variation in mammalian cells (40)”

    From Frequent loss of heterozygosity in CRISPR-Cas9–edited early human embryos (2021) · cites this paper as [40]

    The Introduction (page unavailable) says the authors derive an MMBIR model for the origin of copy number variation, and Implications of the Model proposes that it gives rise to CNV in the human germline. The citing sentence presents that proposed mechanism as established across mammalian cells, which the paper does not demonstrate. (LLM, conf=0.88)

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  1. [1]Iafrate AJ Feuk L Rivera MN Listewnik ML Donahoe PK 2004 Detection of large-scale variation in the human genome. Nat Genet 36 949 951 15286789
  2. [2]Korbel JO Urban AE Affourtit JP Godwin B Grubert F 2007 Paired-end mapping reveals extensive structural variation in the human genome. Science 318 420 426 17901297 PMC2674581
  3. [3]Sebat J Lakshmi B Troge J Alexander J Young J 2004 Large-scale copy number polymorphism in the human genome. Science 305 525 528 15273396
  4. [4]Redon R Ishikawa S Fitch KR Feuk L Perry GH 2006 Global variation in copy number in the human genome. Nature 444 444 454 17122850 PMC2669898
  5. [5]Wong KK deLeeuw RJ Dosanjh NS Kimm LR Cheng Z 2007 A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet 80 91 104 17160897 PMC1785303
  6. [6]Khaja R Zhang J MacDonald JR He Y Joseph-George AM 2006 Genome assembly comparison identifies structural variants in the human genome. Nat Genet 38 1413 1418 17115057 PMC2674632
  7. [7]Newman TL Tuzun E Morrison VA Hayden KE Ventura M 2005 A genome-wide survey of structural variation between human and chimpanzee. Genome Res 15 1344 1356 16169929 PMC1240076
  8. [8]Fiegler H Redon R Andrews D Scott C Andrews R 2006 Accurate and reliable high-throughput detection of copy number variation in the human genome. Genome Res 16 1566 1574 17122085 PMC1665640
  9. [9]Komura D Shen F Ishikawa S Fitch KR Chen W 2006 Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays. Genome Res 16 1575 1584 17122084 PMC1665641
  10. [10]Lupski JR 2007 Structural variation in the human genome. N Engl J Med 356 1169 1171 17360997
  11. [11]Tuzun E Sharp AJ Bailey JA Kaul R Morrison VA 2005 Fine-scale structural variation of the human genome. Nat Genet 37 727 732 15895083
  12. [12]Bruder CEG Poitrowski A Gijsbers AACJ Andersson R Erickson S 2008 Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet 82 1 9 PMC2427204 18304490
  13. [13]Dumas L Kim YH Karimpour-Fard A Cox M Hopkins J 2007 Gene copy number variation spanning 60 million years of human and primate evolution. Genome Res 17 1266 1277 17666543 PMC1950895
  14. [14]Nahon JL 2003 Birth of ‘human-specific’ genes during primate evolution. Genetica 118 193 208 12868609
  15. [15]Bailey JA Eichler EE 2006 Primate segmental duplications: crucibles of evolution, diversity and disease. Nat Rev Genet 7 552 564 16770338
  16. [16]Stankiewicz P Shaw CJ Withers M Inoue K Lupski JR 2004 Serial segmental duplications during primate evolution result in complex human genome architecture. Genome Res 14 2209 2220 15520286 PMC525679
  17. [17]Lupski JR 1998 Genomic disorders: structural features of the genome can lead to DNA rearrangement and human disease traits. Trends Genet 14 417 422 9820031
  18. [18]Stankiewicz P Lupski JR 2002 Genome architecture, rearrangements and genomic disorders. Trends Genet 18 74 82 11818139
  19. [19]Shaw CJ Lupski JR 2005 Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms. Hum Genet 116 1 7 15526218
  20. [20]Lupski JR Stankiewicz P 2005 Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 1 e49 doi:10.1371/journal.pgen.0010049 16444292 PMC1352149 · DOI
  21. [21]Lupski JR 2006 Genome structural variation and sporadic disease traits. Nat Genet 38 974 976 16941003
  22. [22]Lee JA Carvalho CM Lupski JR 2007 A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 131 1235 1247 18160035
  23. [23]Nobile CT Rizzi L Simionati F Nigro B Cardazzo V Patarnello B Valle T Danieli G, GA 2002 Analysis of 22 deletion breakpoints in dystrophin intron 49. Hum Genet 110 418 421 12073011
  24. [24]Inoue K Osaka H Thurston VC Clarke JT Yoneyama A 2002 Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. Am J Hum Genet 71 838 853 12297985 PMC378540
  25. [25]Lee JA 2006 Molecular analysis of the non-recurrent genomic duplications causing Pelizaeus-Merzbacher disease and its allelic disorder paraplegia type 2. 371 [PhD thesis] Houston (Texas): Department of Molecular and Human Genetics, Baylor College of Medicine
  26. [26]Potocki LB, W Treadwell-Deering D Carvalho CM Eifert A Friedman EM 2007 Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 80 633 649 17357070 PMC1852712
  27. [27]Vissers LE Stankiewicz P Yatsenko SA Crawford E Creswick H 2007 Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies. Hum Genet 121 697 709 17457615 PMC1914245
  28. [28]Chen JM Chuzhanova N Stenson PD Férec C Cooper DN 2005 Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions. Hum Mutat 26 362 373 16110485
  29. [29]Férec C Casals T Chuzhanova N Macek MJ Bienvenu T 2006 Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. Eur J Hum Genet 14 562 567 16493442
  30. [30]del Gaudio D Fang P Scaglia F Ward PA Craigen WJ 2006 Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med 8 784 792 17172942
  31. [31]Sheen CR Jewell UR Morris CM Brennan SO Férec C 2007 Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication. Hum Mutat 28 1198 2006 17683067
  32. [32]Stankiewicz P Shaw CJ Dapper JD Wakui K Shaffer LG 2003 Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet 72 1101 1116 12649807 PMC1180264
  33. [33]Lee JA Inoue K Cheung SW Shaw CA Stankiewicz P 2006 Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Hum Mol Genet 15 2250 2265 16774974
  34. [34]Lee JA Madrid RE Sperle K Ritterson CM Hobson GM 2006 Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect. Ann Neurol 59 398 403 16374829
  35. [35]Slack A Thornton PC Magner DB Rosenberg SM Hastings PJ 2006 On the mechanism of gene amplification induced under stress in Escherichia coli. PLoS Genet 2 e48 doi:10.1371/journal.pgen.0020048 16604155 PMC1428787 · DOI
  36. [36]Volik S Raphael BJ Huang G Stratton MR Bignel G 2006 Decoding the fine-scale structure of a breast cancer genome and transcriptome. Genome Res 16 394 404 16461635 PMC1415204
  37. [37]Bignell GR Santarius T Pole JC Butler AP Perry J 2007 Architectures of somatic genomic rearrangement in human cancer amplicons at sequence-level resolution. Genome Res 17 1296 1303 17675364 PMC1950898
  38. [38]Canning S Dryja TP 1989 Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene. Proc Natl Acad Sci U S A 86 5044 5048 2740342 PMC297553
  39. [39]Kohno T Yokata J 2006 Molecular processes of chromosome 9p21 deletions causing inactivation of the p16 tumor suppressor gene in human cancer: deduction from structural analysis of breakpoints for deletions. DNA Repair (Amst) 5 1273 1281 16931177
  40. [40]Zhang Y Zeleznik-Le N Emmanuel N Jayathilaka N Chen J 2004 Characterization of genomic breakpoints in MLL and CBP in leukemia patients with t(11;16). Genes Chromosomes Cancer 41 257 265 15334549
  41. [41]Zhang Y Strissel P Strick R Chen J Nucifora G 2004 Genomic DNA breakpoints in AML1/RUNX1 and ETO cluster with topoisomerase II DNA cleavage and DNase I hypersensitive sites in t(8;21) leukemia. Proc Natl Acad Sci U S A 99 3070 3075 PMC122474 11867721
  42. [42]Chen C Umezu K Kolodner RD 1998 Chromosomal rearrangements occur in S. cerevisiae rfa1 mutator mutants due to mutagenic lesions processed by double-strand-break repair. Mol Cell 2 9 22 9702187
  43. [43]Cairns J Foster PL 1991 Adaptive reversion of a frameshift mutation in Escherichia coli. Genetics 128 695 701 1916241 PMC1204544
  44. [44]Hastings PJ Bull HJ Klump JR Rosenberg SM 2000 Adaptive amplification: an inducible chromosomal instability mechanism. Cell 103 723 731 11114329
  45. [45]Hastings PJ Slack A Petrosino JF Rosenberg SM 2004 Adaptive amplification and point mutation are independent mechanisms: Evidence for various stress-inducible mutation mechanisms. PLoS Biol 2 e399 doi:10.1371/journal.pbio.0020399 15550983 PMC529313 · DOI
  46. [46]Kugelberg E Kofoid E Reams AB Andersson DI Roth JR 2006 Multiple pathways of selected gene amplification during adaptive mutation. Proc Natl Acad Sci U S A 103 17319 17324 17082307 PMC1633709
  47. [47]Hastings PJ 2007 Adaptive amplification. Critical Rev Biochem Mol Biol 42 1 13 17687669
  48. [48]Friedberg EC Walker GC Siede W Wood RD Schultz RA 2005 DNA Repair and Mutagenesis Washington (DC) ASM Press 1164
  49. [49]Ikeda H Shimizu H Ukita T Kumagai M 1995 A novel assay for illegitimate recombination in Escherichia coli: stimulation of lambda bio transducing phage formation by ultra-violet light and its independence from RecA function. Adv Biophys 31 197 208 7625274
  50. [50]Albertini AM Hofer M Calos MP Miller JH 1982 On the formation of spontaneous deletions: the importance of short sequence homologies in the generation of large deletions. Cell 29 319 328 6288254
  51. [51]Farabaugh PJ Schmeissner U Hofer M Miller JH 1978 Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli. J Mol Biol 126 847 857 370408
  52. [52]Shimizu H Yamaguchi H Ashizawa Y Kohno Y Asami M 1997 Short-homology-independent illegitimate recombination in Escherichia coli: distinct mechanism from short-homology-dependent illegitimate recombination. J Mol Biol 266 297 305 9047364
  53. [53]Bzymek M Lovett ST 2001 Instability of repetitive DNA sequences: the role of replication in multiple mechanisms. Proc Natl Acad Sci U S A 98 8319 8325 11459970 PMC37438
  54. [55]Payen C Koszul R Dujon B Fischer G 2008 Segmental duplications arise from Pol32-dependent repair of broken forks through two alternative replication-based mechanisms. PLoS Genet 4 e1000175 doi:10.1371/journal.pgen.1000175 18773114 PMC2518615 · DOI · Paper page
  55. [56]Branzei D Foiani M 2007 Template Switching: From Replication Fork Repair to Genome Rearrangements. Cell 131 1228 1230 18160033
  56. [57]Merrihew RV Marburger K Pennington SL Roth DB Wilson JH 1996 High-frequency illegitimate integration of transfected DNA at preintegrated target sites in a mammalian genome. Mol Cell Biol 16 10 18 8524285 PMC230973
  57. [58]Morrow DM Connelly C Hieter P 1997 “Break-copy” duplication: a model for chromosome fragment formation in Saccharomyces cerevisiae. Genetics 147 371 382 9335579 PMC1208164
  58. [59]McEachern MJ Haber JE 2006 Break-Induced Replication and Recombinational Telomere Elongation in Yeast. Annu Rev Biochem 75 111 135 16756487
  59. [60]Smith CE Llorente B Symington LS 2007 Template switching during break-induced replication. Nature 447 102 105 17410126
  60. [61]Lydeard JR Jain S Yamaguchi M Haber JE 2007 Break-induced replication and telomerase-independent telomere maintenance require Pol32. Nature 448 820 823 17671506
  61. [62]Motamedi M Szigety SK Rosenberg SM 1999 Double-strand-break repair in Escherichia coli: physical evidence for a DNA replication mechanism in vivo. Genes Dev 13 2889 2903 10557215 PMC317119
  62. [63]Llorente B Smith CE Symington LS 2008 Break-induced replication: what is it and what is it for? Cell Cycle 7 859 864 18414031
  63. [64]Heiter P Mann C Snyder M Davis RW 1985 Mitotic stability of yeast chromosomes: A colony color assay that measures nondisjunction and chromosome loss. Cell 40 381 392 3967296
  64. [65]Deem A Barker K Vanhulle K Downing B Vayl A 2008 Defective break-induced replication leads to half-crossovers in Saccharomyces cerevisiae. Genetics 179 1845 1860 18689895 PMC2516063
  65. [66]Schmidt KH Wu J Kolodner RD 2006 Control of translocations between highly diverged genes by Sgs1, the Saccharomyces cerevisiae homolog of the Bloom's syndrome protein. Mol Cell Biol 26 5406 5420 16809776 PMC1592713
  66. [67]Bauters M Van Esch H Friez MJ Boespflug-Tanguy O Zenker M 2008 Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res 18 847 858 18385275 PMC2413152
  67. [68]Lovett ST Hurley RL Sutera VA Jr Aubuchon RH Lebedeva MA 2002 Crossing over between regions of limited homology in Escherichia coli. RecA-dependent and RecA-independent pathways. Genetics 160 851 859 11901106 PMC1462031
  68. [69]Liskay RM Letsou A Stachelek JL 1987 Homology requirement for efficient gene conversion between duplicated chromosomal sequences in mammalian cells. Genetics 115 161 167 3557108 PMC1203052
  69. [70]Reiter LT Hastings PJ Nelis E De Jonghe P Van Broeckhoven C 1998 Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Am J Hum Genet 62 1023 1033 9545397 PMC1377084
  70. [71]VanHulle K Lemoine FJ Narayanan V Downing B Hull K 2007 Inverted DNA repeats channel repair of distant double-strand breaks into chromatid fusions and chromosomal rearrangements. Mol Cell Biol 27 2601 2614 17242181 PMC1899885
  71. [72]Davis AP Symington LS 2004 RAD51-dependent break-induced replication in yeast. Mol Cell Biol 24 2344 2351 14993274 PMC355873
  72. [73]Le S Moore JK Haber JE Greider CW 1999 RAD50 and RAD51 define two pathways that collaborate to maintain telomeres in the absence of telomerase. Genetics 152 143 152 10224249 PMC1460580
  73. [74]Teng SC Zakian VA 1999 Telomere-telomere recombination is an efficient bypass pathway for telomere maintenance in Saccharomyces cerevisiae. Mol Cell Biol 19 8083 8093 10567534 PMC84893
  74. [75]Bentley J Diggle CP Harnden P Knowles MA Kiltie AE 2004 DNA double strand break repair in human bladder cancer is error prone and involves microhomology-associated end-joining. Nucleic Acids Res 32 5249 5259 15466592 PMC521655
  75. [76]Corneo B Wendland RL Deriano L Cui X Klein IA 2007 Rag mutations reveal robust alternative end joining. Nature 449 483 486 17898768
  76. [77]Lisby M Barlow JH Burgess RC Rothstein R 2004 Choreography of the DNA damage response: spatiotemporal relationships among checkpoint and repair proteins. Cell 118 699 713 15369670
  77. [78]Pennington JM Rosenberg SM 2007 Spontaneous DNA breakage in single living cells of Escherichia coli. Nat Gen 39 797 802 PMC2856310 17529976
  78. [79]Saleh-Gohari N Bryant HE Schultz N Parker KM Cassel TN 2005 Spontaneous homologous recombination is induced by collapsed replication forks that are caused by endogenous DNA single-strand breaks. Mol Cell Biol 25 7158 7169 16055725 PMC1190269
  79. [80]McIlwraith MJ Vaisman A Liu Y Fanning E Woodgate R 2005 Human DNA polymerase eta promotes DNA synthesis from strand invasion intermediates of homologous recombination. Mol Cell 20 783 792 16337601
  80. [81]Kawamoto T Araki K Sonoda E Yamashita YM Harada K 2005 Dual roles for DNA polymerase eta in homologous DNA recombination and translesion DNA synthesis. Mol Cell 20 793 799 16337602
  81. [82]Cannistraro VJ Taylor JS 2007 Ability of polymerase eta and T7 DNA polymerase to bypass bulge structures. J Biol Chem 282 11188 11196 17303570
  82. [83]Roth DB Chang XB Wilson JH 1989 Comparison of filler DNA at immune, nonimmune, and oncogenic rearrangements suggests multiple mechanisms of formation. Mol Cell Biol 9 3049 3057 2550794 PMC362774
  83. [84]Young SD Marshall RS Hill RP 1988 Hypoxia induces DNA overreplication and enhances metastatic potential of murine tumor cells. Proc Natl Acad Sci U S A 85 9533 9537 3200838 PMC282788
  84. [85]Coquelle A Toledo F Stern S Bieth A Debatisse M 1998 A new role for hypoxia in tumor progression: induction of fragile site triggering genomic rearrangements and formation of complex DMs and HSRs. Mol Cell 2 259 265 9734364
  85. [87]Bindra RSS Chaffer PJ Meng A Woo J Måseide K 2004 Down-regulation of Rad51 and decreased homologous recombination in hypoxic cancer cells. Mol Cell Biol 24 8504 8518 15367671 PMC516750
  86. [88]Bindra RS Glazer PM 2007 Repression of RAD51 gene expression by E2F4/p130 complexes in hypoxia. Oncogene 26 2048 2057 17001309
  87. [89]Huang LE Bindra RS Glazer PM Harris AL 2007 Hypoxia-induced genetic instability–a calculated mechanism underlying tumor progression. J Mol Med 85 139 148 17180667
  88. [90]Bindra RS Crosby ME Glazer PM 2007 Regulation of DNA repair in hypoxic cancer cells. Cancer Metastasis Rev 26 249 260 17415527
  89. [91]McVey M Adams M Staeva-Vieira E Sekelsky JJ 2004 Evidence for multiple cycles of strand invasion during repair of double-strand gaps in Drosophila. Genetics 167 699 705 15238522 PMC1470890
  90. [92]Bindra RS Glazer PM 2007 Co-repression of mismatch repair gene expression by hypoxia in cancer cells: role of the Myc/Max network. Cancer Lett 252 93 103 17275176
  91. [93]Mihaylova VT Bindra RS Yuan J Campisi D Narayanan L 2003 Decreased expression of the DNA mismatch repair gene Mlh1 under hypoxic stress in mammalian cells. Mol Cell Biol 23 3265 3273 12697826 PMC153206
  92. [94]Myung K Chen C Kolodner RD 2001 Multiple pathways cooperate in the suppression of genome instability in Saccharomyces cerevisiae. Nature 411 1073 1076 11429610
  93. [95]Lombardo M-J Aponyi I Rosenberg SM 2004 General stress response regulator RpoS in adaptive mutation and amplification in Escherichia coli. Genetics 166 669 680 15020458 PMC1470735
  94. [96]Fishman-Lobell J Haber JE 1992 Removal of nonhomologous DNA ends in double-strand break recombination: the role of the yeast ultraviolet repair gene RAD1. Science 258 480 484 1411547
  95. [97]Mortensen UH Bendixen HC Sunjevaric I Rothstein R 1996 DNA strand annealing is promoted by yeast Rad52 protein. Proc Natl Acad Sci U S A 93 10729 10734 8855248 PMC38223
  96. [98]Tsukamoto Y Kato J Ikeda H 1996 Effects of mutations of RAD50, RAD51, RAD52, and related genes on illegitimate recombination in Saccharomyces cerevisiae. Genetics 142 383 391 8852838 PMC1206973
  97. [99]Wu Y Kantake N Sugiyama T Kowalczykowski SC 2008 Rad51 protein controls Rad52-mediated DNA annealing. J Biol Chem 283 14883 14892 18337252 PMC2386943
  98. [100]Lee K Lee SE 2007 Saccharomyces cerevisiae Sae2- and Tel1-dependent single-strand DNA formation at DNA break promotes microhomology-mediated end joining. Genetics 176 2003 2014 17565964 PMC1950609
  99. [101]Lupski JR 2007 An evolution revolution provides further revelation. Bioessays 29 1182 1184 18008371
  100. [102]Ohno S 1970 Evolution by gene duplication Berlin, New York Springer-Verlag 160
  101. [103]Hurles M 2004 Gene duplication: the genomic trade in spare parts. PLoS Biol 2 e206 doi:10.1371/journal.pbio.0020206 15252449 PMC449868 · DOI
  102. [105]Spence JE Perciaccante RG Greig GM Willard HF Ledbetter DH 1988 Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 42 217 226 2893543 PMC1715272
  103. [106]Lee JA Lupski JR 2006 Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron 52 103 121 17015230

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Authors
Hastings, P. J., Ira, G., & Lupski, J. R.
Affiliations
Baylor College of Medicine (US)
Corresponding author
Hastings, P. J.
ORCID
Venue
PLoS Genetics
Publisher
Public Library of Science (PLoS)
Published
2009-01-30
Volume
5
Issue
1
Pages
e1000327
ISSN
  • 1553-7390 (ISSN-L)
  • 1553-7404
DOI
10.1371/journal.pgen.1000327
PMC
PMC2621351
OpenAlex
W2007325090
Cited by
818
References
3
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FWCI
6.19
Type
journal article
Language
en
Open access
Licence
Locations
  • PLoS Genetics (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
  • National Institutes of Health
  • National Institute of General Medical Sciences (R01 GM80600, R01GM064022, R01-GM64022, R01GM080600)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
Keywords
copy number variation, microhomology-mediated break-induced replication, segmental duplication, Pelizaeus-Merzbacher disease, genomic disorders, homologous recombination deficiency, template switching, inverted duplication, triplication, DNA repair
MeSH terms
Animals, DNA Replication, Escherichia coli, Humans, Models, Genetic, Neoplasms, Recombination, Genetic, Yeasts, Gene Rearrangement, Sequence Homology, Gene Dosage, DNA Breaks, Single-Stranded

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