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Genome rearrangements caused by interstitial telomeric sequences in yeast.

Publication ,  Journal Article
Aksenova, AY; Greenwell, PW; Dominska, M; Shishkin, AA; Kim, JC; Petes, TD; Mirkin, SM
Published in: Proc Natl Acad Sci U S A
December 3, 2013

Interstitial telomeric sequences (ITSs) are present in many eukaryotic genomes and are linked to genome instabilities and disease in humans. The mechanisms responsible for ITS-mediated genome instability are not understood in molecular detail. Here, we use a model Saccharomyces cerevisiae system to characterize genome instability mediated by yeast telomeric (Ytel) repeats embedded within an intron of a reporter gene inside a yeast chromosome. We observed a very high rate of small insertions and deletions within the repeats. We also found frequent gross chromosome rearrangements, including deletions, duplications, inversions, translocations, and formation of acentric minichromosomes. The inversions are a unique class of chromosome rearrangement involving an interaction between the ITS and the true telomere of the chromosome. Because we previously found that Ytel repeats cause strong replication fork stalling, we suggest that formation of double-stranded DNA breaks within the Ytel sequences might be responsible for these gross chromosome rearrangements.

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Published In

Proc Natl Acad Sci U S A

DOI

EISSN

1091-6490

Publication Date

December 3, 2013

Volume

110

Issue

49

Start / End Page

19866 / 19871

Location

United States

Related Subject Headings

  • Telomere
  • Saccharomyces cerevisiae
  • Polymerase Chain Reaction
  • Microarray Analysis
  • Genomic Instability
  • Genes, Reporter
  • DNA Breaks, Double-Stranded
  • Chromosome Fragile Sites
  • Chromosome Aberrations
  • Blotting, Southern
 

Citation

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Aksenova, A. Y., Greenwell, P. W., Dominska, M., Shishkin, A. A., Kim, J. C., Petes, T. D., & Mirkin, S. M. (2013). Genome rearrangements caused by interstitial telomeric sequences in yeast. Proc Natl Acad Sci U S A, 110(49), 19866–19871. https://doi.org/10.1073/pnas.1319313110
Aksenova, Anna Y., Patricia W. Greenwell, Margaret Dominska, Alexander A. Shishkin, Jane C. Kim, Thomas D. Petes, and Sergei M. Mirkin. “Genome rearrangements caused by interstitial telomeric sequences in yeast.Proc Natl Acad Sci U S A 110, no. 49 (December 3, 2013): 19866–71. https://doi.org/10.1073/pnas.1319313110.
Aksenova AY, Greenwell PW, Dominska M, Shishkin AA, Kim JC, Petes TD, et al. Genome rearrangements caused by interstitial telomeric sequences in yeast. Proc Natl Acad Sci U S A. 2013 Dec 3;110(49):19866–71.
Aksenova, Anna Y., et al. “Genome rearrangements caused by interstitial telomeric sequences in yeast.Proc Natl Acad Sci U S A, vol. 110, no. 49, Dec. 2013, pp. 19866–71. Pubmed, doi:10.1073/pnas.1319313110.
Aksenova AY, Greenwell PW, Dominska M, Shishkin AA, Kim JC, Petes TD, Mirkin SM. Genome rearrangements caused by interstitial telomeric sequences in yeast. Proc Natl Acad Sci U S A. 2013 Dec 3;110(49):19866–19871.
Journal cover image

Published In

Proc Natl Acad Sci U S A

DOI

EISSN

1091-6490

Publication Date

December 3, 2013

Volume

110

Issue

49

Start / End Page

19866 / 19871

Location

United States

Related Subject Headings

  • Telomere
  • Saccharomyces cerevisiae
  • Polymerase Chain Reaction
  • Microarray Analysis
  • Genomic Instability
  • Genes, Reporter
  • DNA Breaks, Double-Stranded
  • Chromosome Fragile Sites
  • Chromosome Aberrations
  • Blotting, Southern