Figure 1.

(A) Schematic view of the XPF domains with the selected mutations and the diseases found in patients. The patient XPCSCD had an allele with C236R and the other with R589W. R799W mutation found in homozygosis in XP was also found in a cohort of patients with XFE sharing CS features. This figure was created with a protein designing software from [44]. XP: Xeroderma Pigmentosum; CS: Cockayne Syndrome; XPCSCD: Xeroderma Pigmentosum Cockayne Syndrome combined disease; XFE: Segmental Progeria. (B) Western Blot (WB) levels of each single XPF mutant transduced cell line. The two WB are split by spatial reasons. Levels of XPF proteins are normalized to GAPDH expression levels and expressed as a percentage relative to the exogenous XPF-Wt. GAPDH is used as a loading control.