Research Paper Volume 13, Issue 4 pp 4926—4945

Functional analysis of POLD1 p.ser605del variant: the aging phenotype of MDPL syndrome is associated with an impaired DNA repair capacity

Senescence-associated β-galactosidase assay in MDPL-HDFs and WT controls. (A) Representative image of Senescence-associated β-galactosidase assay. A greater amount of intensely positive blue cells are displayed in MDPL-HDFs than in WT controls. (B) The histogram shows the average percentage of β-galactosidase-positive cells in WT (4,3%) and MDPL fibroblasts (20%). Error bars represent the SD from the analysis of 100 cells from three independent experiments and WT values are displayed as the average percentages of 2 different controls (***P C) Long-term culture of WT (grey) and MDPL HDFs (black). PDL: population doubling levels.

Figure 2. Senescence-associated β-galactosidase assay in MDPL-HDFs and WT controls. (A) Representative image of Senescence-associated β-galactosidase assay. A greater amount of intensely positive blue cells are displayed in MDPL-HDFs than in WT controls. (B) The histogram shows the average percentage of β-galactosidase-positive cells in WT (4,3%) and MDPL fibroblasts (20%). Error bars represent the SD from the analysis of 100 cells from three independent experiments and WT values are displayed as the average percentages of 2 different controls (***P < 0.001). (C) Long-term culture of WT (grey) and MDPL HDFs (black). PDL: population doubling levels.