Real-time quantitative RT-PCR for human telomere elongation reverse transcriptase in chronic myeloid leukemia

Gil, Marcel Eduardo; Coetzer, Thérèsa L.

doi:10.1016/j.leukres.2004.01.002

Cited by 2 publications

(1 citation statement)

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“…DNA was store in TE (10 mM Tris, pH 7.5, 1 mM EDTA) at 4ºC until use. Telomeric repets were calculated as described (Gil and Coetzer, 2004a, b;Vasilishina et al, 2019) for 5 seconds, annealing at 58°C for 10 seconds and extension at 72ºC for 40 seconds (Gil and Coetzer, 2004b).…”

Section: Telomere Length Analysismentioning

confidence: 99%

Nucleolar disruption, activation of P53 and premature senescence in POLR3A-mutated Wiedemann-Rautenstrauch Syndrome fibroblasts

Baez

Valencia

Velasquez

et al. 2020

Preprint

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Recently, mutations in the RNA polymerase III subunit 3A (POLR3A) have been described as the cause of the neonatal progeria or Wiedemann-Rautenstrauch syndrome (WRS). POLR3A have important roles in the regulation of transcription of small RNAs, including tRNA, 5S rRNA and U6 snRNA. We aim to describe cellular and molecular features of WRS fibroblasts. Cultures of primary fibroblasts from one WRS patient [monoallelic POLR3A variant c.3772_3773delCT (p.Leu1258Glyfs*12)] and one control were grown. Mutation in POLR3A causes a decreased in the expression of POLR3A mRNA and protein and a sharp increased of mutant protein.In addition, there was an increased in its nuclear localization. These changes were associated to an increase number and area of nucleoli, a significantly larger nuclear area, and a high increased in the expression of pP53 and pH2AX. All these changes were associated to premature senescence. The present observations add to our understanding of the differences between HGPS and WRS, and opens new alternatives to study cell senesce and human aging.

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Section: Telomere Length Analysismentioning

confidence: 99%