Revertant somatic mosaicism in the Wiskott–Aldrich syndrome
BR Davis, F Candotti - Immunologic research, 2009 - Springer
Immunologic research, 2009•Springer
Up to 11% of patients affected with Wiskott–Aldrich syndrome (WAS) have presented with
somatic mosaicism due to spontaneous in vivo reversion to normal of the original mutation
or second-site compensatory mutations that restored production of the WAS gene product.
The reasons underlying the high prevalence of this phenomenon in WAS are unclear and
may include strong selective advantage of revertant cells over mutated populations,
abnormally high general mutation rate and/or increased susceptibility of specific WAS gene …
somatic mosaicism due to spontaneous in vivo reversion to normal of the original mutation
or second-site compensatory mutations that restored production of the WAS gene product.
The reasons underlying the high prevalence of this phenomenon in WAS are unclear and
may include strong selective advantage of revertant cells over mutated populations,
abnormally high general mutation rate and/or increased susceptibility of specific WAS gene …
Abstract
Up to 11% of patients affected with Wiskott–Aldrich syndrome (WAS) have presented with somatic mosaicism due to spontaneous in vivo reversion to normal of the original mutation or second-site compensatory mutations that restored production of the WAS gene product. The reasons underlying the high prevalence of this phenomenon in WAS are unclear and may include strong selective advantage of revertant cells over mutated populations, abnormally high general mutation rate and/or increased susceptibility of specific WAS gene sequences to DNA polymerase errors. Additional studies in human samples and in vitro/in vivo models of the disease will likely yield further insights into the mechanisms responsible for the occurrence of revertant mosaicism in WAS and elucidate additional biological characteristics of the WAS gene and protein.
Springer
