Impaired telomere integrity and rRNA biogenesis in PARN‐deficient patients and knock‐out models

  title={Impaired telomere integrity and rRNA biogenesis in PARN‐deficient patients and knock‐out models},
  author={M. Benyelles and H. Episkopou and M. O'Donohue and La{\"e}titia Kermasson and P. Frange and Florian Poulain and Fatma Burcu Belen and M. Polat and C. B{\^o}le-Feysot and Francina Langa-Vives and P. Gleizes and Jean-Pierre de Villartay and I. Callebaut and A. Decottignies and P. Revy},
  journal={EMBO Molecular Medicine},
PARN, poly(A)‐specific ribonuclease, regulates the turnover of mRNAs and the maturation and stabilization of the hTR RNA component of telomerase. Biallelic PARN mutations were associated with Høyeraal–Hreidarsson (HH) syndrome, a rare telomere biology disorder that, because of its severity, is likely not exclusively due to hTR down‐regulation. Whether PARN deficiency was affecting the expression of telomere‐related genes was still unclear. Using cells from two unrelated HH individuals carrying… Expand
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