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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
..., their exact locations have, despite extensive efforts (Guo et al. 2016), remained elusive. We set out to map these repeats to elucidate the LCR22 structures and their variability and to further refine the 22q11DS rearrangement breakpoint regions.ResultsSubunit-resolution LCR assemblies using fiber FISHTo...
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LETTER: Chromosomal instability mediated by non-B DNA: Cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans
- Hidehito Inagaki,
- Tamae Ohye,
- Hiroshi Kogo,
- Takema Kato,
- Hasbaira Bolor,
- Mariko Taniguchi,
- Tamim H. Shaikh,
- Beverly S. Emanuel,
- and Hiroki Kurahashi
Genome Res. February 2009 19: 191-198; Published in Advance November 7, 2008, doi:10.1101/gr.079244.108
.... , Emanuel, B.S. ( 2007 ) A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies . Genome Res. 17 : 470 – 481 . ↵ Greaves, D.R. , Patient, R.K. , Lilley, D.M. ( 1985 ) Facile cruciform formation by an (A-T)34 sequence from a Xenopus globin gene . J. Mol. Biol. 185...
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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
...they form. Fifty-one are simple unbalanced translocations between two different chromosome ends, and six rearrangements have more than three breakpoints involving two to five chromosomes. Sequencing 37 breakpoint junctions revealed that simple translocations have between 0 and 4 base pairs (bp...
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Research: Assessment of palindromes as platforms for DNA amplification in breast cancer
- Jamie Guenthoer,
- Scott J. Diede,
- Hisashi Tanaka,
- Xiaoyu Chai,
- Li Hsu,
- Stephen J. Tapscott,
- and Peggy L. Porter
Genome Res. February 2012 22: 232-245; Published in Advance July 13, 2011, doi:10.1101/gr.117226.110
...is inconsistent (Lu et al. 1998; Werner et al. 1999; Robanus-Maandag et al. 2003; Corzo et al. 2006; Yao et al. 2006; Burkhardt et al. 2009). Additionally, the primary mechanisms by which copy-number gain and amplification occur in breast cancer remain to be elucidated. Ultimately, the initiators and regulators...
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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
...by breakage-induced replication with strand invasion of the normal sister chromatid. Our results indicate that the mechanism by which copy number changes occur in regions with a complex genomic architecture can yield complex rearrangements. Footnotes ↵ 11 Corresponding author. ↵ 11 E...
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LETTER: Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13)
- Marzena Gajecka,
- Andrew J. Gentles,
- Albert Tsai,
- David Chitayat,
- Katherine L. Mackay,
- Caron D. Glotzbach,
- Michael R. Lieber,
- and Lisa G. Shaffer
Genome Res. November 2008 18: 1733-1742; Published in Advance September 2, 2008, doi:10.1101/gr.077453.108
...) A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2 . Hum. Mol. Genet. 13 : 103 – 115 . ↵ Gotter, A.L. , Nimmakayalu, M.A. , Jalali, G.R. , Hacker, A.M. , Vorstman, J. , Conforto Duffy, D. , Medne, L. , Emanuel, B.S. ( 2007 ) A palindrome-driven complex...

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