Increased AID Results in Mutations at the CRLF2 Locus Implicated in Latin American ALL Health Disparities.

ABSTRACT: Activation-induced cytidine deaminase (AID) is a B cell-specific base editor required during class switch recombination and somatic hypermutation for B cell maturation and antibody diversification. However, it has also been implicated as a factor in the etiology of several B cell malignancies. Evaluating the AID-induced mutation load in patients at-risk for certain types of blood cancers is critical in assessing disease severity and treatment options. Here, we have developed a digital PCR (dPCR) assay that allows us to track the mutational landscape resulting from AID modification or DNA double-strand break (DSB) formation and repair at sites known to be prone to DSBs. Implementation of this new assay showed that increased AID levels in immature B cells increases genome instability at loci

SUBMITTER: Pannunzio N 

PROVIDER: S-EPMC10543404 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature