%0 Journal Article
%T Unique DNA Repair Gene Variations and Potential Associations with the Primary Antibody Deficiency Syndromes IgAD and CVID
%A Steven M. Offer
%A Qiang Pan-Hammarstr£¿m
%A Lennart Hammarstr£¿m
%A Reuben S. Harris
%J PLOS ONE
%D 2012
%I Public Library of Science (PLoS)
%R 10.1371/journal.pone.0012260
%X Despite considerable effort, the genetic factors responsible for >90% of the antibody deficiency syndromes IgAD and CVID remain elusive. To produce a functionally diverse antibody repertoire B lymphocytes undergo class switch recombination. This process is initiated by AID-catalyzed deamination of cytidine to uridine in switch region DNA. Subsequently, these residues are recognized by the uracil excision enzyme UNG2 or the mismatch repair proteins MutS¦Á (MSH2/MSH6) and MutL¦Á (PMS2/MLH1). Further processing by ubiquitous DNA repair factors is thought to introduce DNA breaks, ultimately leading to class switch recombination and expression of a different antibody isotype.
%U http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0012260