Figure 2
From: Large deletions in immunoglobulin genes are associated with a sustained absence of DNA Polymerase η
Percentage of AT mutations is proportional to DNA polymerase η activity. (A) SHM profile as percentage of AT: GC mutations of XP-V patients (FR XP-V) and controls (FR Ctrl) of the French cohort, as well as XP-V patients (BR XP-V), wild-type (POLH homozygous)(BR Ctrl) and carrier (POLH heterozygous)(BR Htz) controls from the Brazilian cohort. *p<0.05 and ***p<0.0001 (Unpaired T-test). (B) Percentage of AT mutations of POLH WT controls from the French (FR Ctrl) and Brazilian (BR Ctrl) cohorts, POLH heterozygous (carrier) controls from the Brazilian cohort (BR Htz), XP-V patients with an intermediate pol η activity of the French (FR XP-V Intermediate) and Brazilian (BR XP-V Intermediate) cohort, and XP-V patients with no detectable pol η activity from the French (FR XP-V None) and Brazilian (BR XP-V None) cohorts. *p = 0.0418 (Unpaired T-test).
