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Research: Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis
- Brooke Weckselblatt,
- Karen E. Hermetz,
- and M. Katharine Rudd
Genome Res. July 2015 25: 937-947; Published in Advance June 12, 2015, doi:10.1101/gr.191247.115
...a parent who carries the balanced form of the rearrangement or may arise de novo. Recurrent translocations may be mediated by nonallelic homologous recombination (NAHR) between segmental duplications (Giglioet al. 2002;Ouet al. 2011)orparalogous interspersed repeats (Luo et al. 2011; Hermetz et al. 2012...
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Research: NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits
- Piotr Dittwald,
- Tomasz Gambin,
- Przemyslaw Szafranski,
- Jian Li,
- Stephen Amato,
- Michael Y. Divon,
- Lisa Ximena Rodríguez Rojas,
- Lindsay E. Elton,
- Daryl A. Scott,
- Christian P. Schaaf,
- Wilfredo Torres-Martinez,
- Abby K. Stevens,
- Jill A. Rosenfeld,
- Satish Agadi,
- David Francis,
- Sung-Hae L. Kang,
- Amy Breman,
- Seema R. Lalani,
- Carlos A. Bacino,
- Weimin Bi,
- Aleksandar Milosavljevic,
- Arthur L. Beaudet,
- Ankita Patel,
- Chad A. Shaw,
- James R. Lupski,
- Anna Gambin,
- Sau Wai Cheung,
- and Pawel Stankiewicz
Genome Res. September 2013 23: 1395-1409; Published in Advance May 8, 2013, doi:10.1101/gr.152454.112
...between LCRs on nonhomologous chromosomes can cause recurrent constitutional translocations (Giglio et al. 2002; Ou et al. 2011). For LCRs in inverted orientation, Dittwald et al. (2013) showed that 12.0% of the human is potentially susceptible to NAHR-mediated inversions between inverse paralogous LCRs...
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Research: Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations
- Caroline Robberecht,
- Thierry Voet,
- Masoud Zamani Esteki,
- Beata A. Nowakowska,
- and Joris R. Vermeesch
Genome Res. March 2013 23: 411-418; Published in Advance December 3, 2012, doi:10.1101/gr.145631.112
...translocations mediated by NAHR between nonhomologous chromosomes. Genome Res 21: 33–46. Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, Ledbetter DH, Martin CL. 2006. Subtelomere FISH analysis of 11 688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements...
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Method: Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements
- Xiaofei Song,
- Christine R. Beck,
- Renqian Du,
- Ian M. Campbell,
- Zeynep Coban-Akdemir,
- Shen Gu,
- Amy M. Breman,
- Pawel Stankiewicz,
- Grzegorz Ira,
- Chad A. Shaw,
- and James R. Lupski
Genome Res. August 2018 28: 1228-1242; Published in Advance June 15, 2018, doi:10.1101/gr.229401.117
...segment required for NAHR is generally thought to be longer than an individual Alu sequence (Reiter et al. 1998). It has recently been proposed that Alu repetitive elements may participate in aberrant rearrangement of the by mediating template switching (TS) during replication-based repair mechanisms...
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LETTER: Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
- Marijke Bauters,
- Hilde Van Esch,
- Michael J. Friez,
- Odile Boespflug-Tanguy,
- Martin Zenker,
- Angela M. Vianna-Morgante,
- Carla Rosenberg,
- Jaakko Ignatius,
- Martine Raynaud,
- Karen Hollanders,
- Karen Govaerts,
- Kris Vandenreijt,
- Florence Niel,
- Pierre Blanc,
- Roger E. Stevenson,
- Jean-Pierre Fryns,
- Peter Marynen,
- Charles E. Schwartz,
- and Guy Froyen
Genome Res. June 2008 18: 847-858; Published in Advance April 2, 2008, doi:10.1101/gr.075903.107
...has not been resolved so far, and potential mechanisms deduced from breakpoint studies of other nonrecurrent rearrangements are still speculative. Recurrent rearrangements are mediated by nonallelic homologous recombination (NAHR) between low-copy repeats (LCRs), also referred to as segmental...
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Research: The 22q11 low copy repeats are characterized by unprecedented size and structural variability
- Wolfram Demaerel,
- Yulia Mostovoy,
- Feyza Yilmaz,
- Lisanne Vervoort,
- Steven Pastor,
- Matthew S. Hestand,
- Ann Swillen,
- Elfi Vergaelen,
- Elizabeth A. Geiger,
- Curtis R. Coughlin,
- Stephen K. Chow,
- Donna McDonald-McGinn,
- Bernice Morrow,
- Pui-Yan Kwok,
- Ming Xiao,
- Beverly S. Emanuel,
- Tamim H. Shaikh,
- and Joris R. Vermeesch
Genome Res. September 2019 29: 1389-1401; doi:10.1101/gr.248682.119
..., driving variability and evolution. The Chromosome 22 LCRs (LCR22s) mediate nonallelic homologous recombination (NAHR) leading to the 22q11 deletion syndrome (22q11DS). However, LCR22s are among the most complex regions in the , and their structure remains unresolved. The difficulty in generating accurate...
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Research: Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene
- Arunkanth Ankala,
- Jordan N. Kohn,
- Anisha Hegde,
- Arjun Meka,
- Chin Lip Hon Ephrem,
- Syed H. Askree,
- Shruti Bhide,
- and Madhuri R. Hegde
Genome Res. January 2012 22: 25-34; Published in Advance November 16, 2011, doi:10.1101/gr.123463.111
...30602, USA; 3Georgia Institute of Technology, Atlanta, Georgia 30332, USA Abstract Non-allelic homologous recombination (NAHR), non-homologous end joining (NHEJ), and microhomology-mediated replication-dependent recombination (MMRDR) have all been put forward as mechanisms...
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Research: Breakpoint profiling of 64 cancer genomes reveals numerous complex rearrangements spawned by homology-independent mechanisms
- Ankit Malhotra,
- Michael Lindberg,
- Gregory G. Faust,
- Mitchell L. Leibowitz,
- Royden A. Clark,
- Ryan M. Layer,
- Aaron R. Quinlan,
- and Ira M. Hall
Genome Res. May 2013 23: 762-776; Published in Advance February 14, 2013, doi:10.1101/gr.143677.112
...of NAHR in tumor s has been suggested by prior studies (Raphael et al. 2008; Hampton et al. 2009; Stephens et al. 2009; Hillmer et al. 2011). Hypotheses regarding the role of repeat-mediated homologous recombination in generating cancer instability (Hall and Grewal 2003; Konkel and Batzer 2010) should...
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Research: Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome
- Aaron R. Quinlan,
- Royden A. Clark,
- Svetlana Sokolova,
- Mitchell L. Leibowitz,
- Yujun Zhang,
- Matthew E. Hurles,
- Joshua C. Mell,
- and Ira M. Hall
Genome Res. May 2010 20: 623-635; Published in Advance March 22, 2010, doi:10.1101/gr.102970.109
...transposons; (SSR) simple sequence repeats. (NHEJ) nonhomologous end-joining; (NAHR) non-allelic homologous recombination. (E ) Detailed histograms of C reflecting simple and complex LSV breakpoints, respectively, as defined in the text. (F ) The distribution of observed combinations of breakpoints (at least...
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Method: Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing
- Nara L.M. Sobreira,
- Veena Gnanakkan,
- Michael Walsh,
- Beth Marosy,
- Elizabeth Wohler,
- George Thomas,
- Julie E. Hoover-Fong,
- Ada Hamosh,
- Sarah J. Wheelan,
- and David Valle
Genome Res. October 2011 21: 1720-1727; Published in Advance September 2, 2011, doi:10.1101/gr.122986.111
...translocations mediated by NAHR between nonhomologous chromosomes. Genome Res 21: 33–46. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, et al. 2006. Global variation in copy number in the human . Nature 444: 444–454. Robinson JT, Thorvaldsdo´ttir H...

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