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Nanopore sequencing of complex genomic rearrangements in yeast reveals mechanisms of repeat-mediated double-strand break repair.

Publication ,  Journal Article
McGinty, RJ; Rubinstein, RG; Neil, AJ; Dominska, M; Kiktev, D; Petes, TD; Mirkin, SM
Published in: Genome Res
December 2017

Improper DNA double-strand break (DSB) repair results in complex genomic rearrangements (CGRs) in many cancers and various congenital disorders in humans. Trinucleotide repeat sequences, such as (GAA)n repeats in Friedreich's ataxia, (CTG)n repeats in myotonic dystrophy, and (CGG)n repeats in fragile X syndrome, are also subject to double-strand breaks within the repetitive tract followed by DNA repair. Mapping the outcomes of CGRs is important for understanding their causes and potential phenotypic effects. However, high-resolution mapping of CGRs has traditionally been a laborious and highly skilled process. Recent advances in long-read DNA sequencing technologies, specifically Nanopore sequencing, have made possible the rapid identification of CGRs with single base pair resolution. Here, we have used whole-genome Nanopore sequencing to characterize several CGRs that originated from naturally occurring DSBs at (GAA)n microsatellites in Saccharomyces cerevisiae These data gave us important insights into the mechanisms of DSB repair leading to CGRs.

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Published In

Genome Res

DOI

EISSN

1549-5469

Publication Date

December 2017

Volume

27

Issue

12

Start / End Page

2072 / 2082

Location

United States

Related Subject Headings

  • Trinucleotide Repeats
  • Sequence Analysis, DNA
  • Saccharomyces cerevisiae
  • Retroelements
  • Nanopores
  • Genome, Fungal
  • Gene Rearrangement
  • Gene Duplication
  • DNA, Fungal
  • DNA Repair
 

Citation

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McGinty, R. J., Rubinstein, R. G., Neil, A. J., Dominska, M., Kiktev, D., Petes, T. D., & Mirkin, S. M. (2017). Nanopore sequencing of complex genomic rearrangements in yeast reveals mechanisms of repeat-mediated double-strand break repair. Genome Res, 27(12), 2072–2082. https://doi.org/10.1101/gr.228148.117
McGinty, Ryan J., Rachel G. Rubinstein, Alexander J. Neil, Margaret Dominska, Denis Kiktev, Thomas D. Petes, and Sergei M. Mirkin. “Nanopore sequencing of complex genomic rearrangements in yeast reveals mechanisms of repeat-mediated double-strand break repair.Genome Res 27, no. 12 (December 2017): 2072–82. https://doi.org/10.1101/gr.228148.117.
McGinty RJ, Rubinstein RG, Neil AJ, Dominska M, Kiktev D, Petes TD, et al. Nanopore sequencing of complex genomic rearrangements in yeast reveals mechanisms of repeat-mediated double-strand break repair. Genome Res. 2017 Dec;27(12):2072–82.
McGinty, Ryan J., et al. “Nanopore sequencing of complex genomic rearrangements in yeast reveals mechanisms of repeat-mediated double-strand break repair.Genome Res, vol. 27, no. 12, Dec. 2017, pp. 2072–82. Pubmed, doi:10.1101/gr.228148.117.
McGinty RJ, Rubinstein RG, Neil AJ, Dominska M, Kiktev D, Petes TD, Mirkin SM. Nanopore sequencing of complex genomic rearrangements in yeast reveals mechanisms of repeat-mediated double-strand break repair. Genome Res. 2017 Dec;27(12):2072–2082.

Published In

Genome Res

DOI

EISSN

1549-5469

Publication Date

December 2017

Volume

27

Issue

12

Start / End Page

2072 / 2082

Location

United States

Related Subject Headings

  • Trinucleotide Repeats
  • Sequence Analysis, DNA
  • Saccharomyces cerevisiae
  • Retroelements
  • Nanopores
  • Genome, Fungal
  • Gene Rearrangement
  • Gene Duplication
  • DNA, Fungal
  • DNA Repair