Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage–fusion–bridge for telomere stabilization

@article{Yatsenko2012HumanSC,
  title={Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage–fusion–bridge for telomere stabilization},
  author={Svetlana A Yatsenko and Patricia M Hixson and Erin K. Roney and Daryl A Scott and Christian P Schaaf and Yu-tze Ng and Robbin Palmer and Richard B. Fisher and Ankita Patel and Sau Wai Cheung and James R Lupski},
  journal={Human Genetics},
  year={2012},
  volume={131},
  pages={1895-1910}
}
Constitutional deletions of distal 9q34 encompassing the EHMT1 (euchromatic histone methyltransferase 1) gene, or loss-of-function point mutations in EHMT1, are associated with the 9q34.3 microdeletion syndrome, also known as Kleefstra syndrome [MIM#610253]. We now report further evidence for genomic instability of the subtelomeric 9q34.3 region as evidenced by copy number gains of this genomic interval that include duplications, triplications, derivative chromosomes and complex rearrangements… CONTINUE READING
BETA

Citations

Publications citing this paper.
SHOWING 1-10 OF 14 CITATIONS

References

Publications referenced by this paper.
SHOWING 1-10 OF 60 REFERENCES

Similar Papers

Loading similar papers…