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A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy.

Bee L, Nasca A, Zanolini A, Cendron F, d'Adamo P, Costa R, Lamperti C, Celotti L, Ghezzi D, Zeviani M - EMBO Mol Med (2015)

Bottom Line: XRCC4 transcript levels were profoundly reduced, and the protein was undetectable in patients' skin fibroblasts.Gamma-irradiated mutant cells demonstrated reduction, but not abolition, of DSB repair.Surprisingly, neither immunodeficiency nor predisposition to malignancy was reported in these patients.

View Article: PubMed Central - PubMed

Affiliation: Department of Biology, University of Padua, Padua, Italy.

No MeSH data available.


Related in: MedlinePlus

Quantification of alternative non-homologous end-joining (A-NHEJ) activityA, B Percentages of DSBs repaired in increasing time intervals (0.5–2 h, 0.5–6 h, 0.5–24 h) were calculated in XRCC4wt (A) and XRCC4m/m (B) cells from the number of γ-H2AX foci in presence or absence of a PARP-1 inhibitor, 3′-AB. **P < 0.01 (XRCC4m/m + 3′-AB versus XRCC4m/m + DMSO), two-way ANOVA, Bonferroni post hoc test.
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fig06: Quantification of alternative non-homologous end-joining (A-NHEJ) activityA, B Percentages of DSBs repaired in increasing time intervals (0.5–2 h, 0.5–6 h, 0.5–24 h) were calculated in XRCC4wt (A) and XRCC4m/m (B) cells from the number of γ-H2AX foci in presence or absence of a PARP-1 inhibitor, 3′-AB. **P < 0.01 (XRCC4m/m + 3′-AB versus XRCC4m/m + DMSO), two-way ANOVA, Bonferroni post hoc test.

Mentions: From the number of γ-H2AX foci in presence or absence of PARP-1 inhibitor (Fig6), we can roughly estimate the percentage of DSBs induced by γ-ray irradiation that were rejoined by the A-NHEJ.


A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy.

Bee L, Nasca A, Zanolini A, Cendron F, d'Adamo P, Costa R, Lamperti C, Celotti L, Ghezzi D, Zeviani M - EMBO Mol Med (2015)

Quantification of alternative non-homologous end-joining (A-NHEJ) activityA, B Percentages of DSBs repaired in increasing time intervals (0.5–2 h, 0.5–6 h, 0.5–24 h) were calculated in XRCC4wt (A) and XRCC4m/m (B) cells from the number of γ-H2AX foci in presence or absence of a PARP-1 inhibitor, 3′-AB. **P < 0.01 (XRCC4m/m + 3′-AB versus XRCC4m/m + DMSO), two-way ANOVA, Bonferroni post hoc test.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4520657&req=5

fig06: Quantification of alternative non-homologous end-joining (A-NHEJ) activityA, B Percentages of DSBs repaired in increasing time intervals (0.5–2 h, 0.5–6 h, 0.5–24 h) were calculated in XRCC4wt (A) and XRCC4m/m (B) cells from the number of γ-H2AX foci in presence or absence of a PARP-1 inhibitor, 3′-AB. **P < 0.01 (XRCC4m/m + 3′-AB versus XRCC4m/m + DMSO), two-way ANOVA, Bonferroni post hoc test.
Mentions: From the number of γ-H2AX foci in presence or absence of PARP-1 inhibitor (Fig6), we can roughly estimate the percentage of DSBs induced by γ-ray irradiation that were rejoined by the A-NHEJ.

Bottom Line: XRCC4 transcript levels were profoundly reduced, and the protein was undetectable in patients' skin fibroblasts.Gamma-irradiated mutant cells demonstrated reduction, but not abolition, of DSB repair.Surprisingly, neither immunodeficiency nor predisposition to malignancy was reported in these patients.

View Article: PubMed Central - PubMed

Affiliation: Department of Biology, University of Padua, Padua, Italy.

No MeSH data available.


Related in: MedlinePlus