The R278H mutation significantly impairs the end-ligation function of the Lig4 protein, and mice homozygous for the R278H mutation (Lig4R/R) showed diminished DSB repair capacity and age-dependent lymphopenia that implicated potential HSC defects.Consistent with a defect in NHEJ, we show the ...
p53 mediates loss of hematopoietic stem cell function and lymphopenia in Mysm1 deficiency. Blood 2015; 125: 2344–2348. 35. Gatzka M, Tasdogan A, Hainzl A, Allies G, Maity P, Wilms C et al. Interplay of H2A deubiquitinase 2A-DUB/Mysm1 and the p19(ARF)/p53 axis in hematopoiesis, ...