Revertant somatic mosaicism in the Wiskott-Aldrich syndrome
Details
Serval ID
serval:BIB_FF2DEB66B781
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Revertant somatic mosaicism in the Wiskott-Aldrich syndrome
Journal
Immunol Res
ISSN
0257-277X (Print)
ISSN-L
0257-277X
Publication state
Published
Issued date
2009
Volume
44
Number
1-3
Pages
127-31
Language
english
Notes
Davis, Brian R
Candotti, Fabio
eng
Immunol Res. 2009;44(1-3):127-31. doi: 10.1007/s12026-008-8091-4.
Candotti, Fabio
eng
Immunol Res. 2009;44(1-3):127-31. doi: 10.1007/s12026-008-8091-4.
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.
Keywords
CD4-Positive T-Lymphocytes/immunology/metabolism, CD8-Positive T-Lymphocytes/immunology/metabolism, DNA Repair/genetics, Humans, *Mosaicism, Mutation, Wiskott-Aldrich Syndrome/*genetics
Pubmed
Create date
01/11/2017 10:29
Last modification date
20/08/2019 16:29