Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis

L Du, R Peng, A Björkman… - Journal of Experimental …, 2012 - rupress.org
L Du, R Peng, A Björkman, N Filipe de Miranda, C Rosner, A Kotnis, M Berglund, C Liu…
Journal of Experimental Medicine, 2012rupress.org
Cernunnos is involved in the nonhomologous end-joining (NHEJ) process during DNA
double-strand break (DSB) repair. Here, we studied immunoglobulin (Ig) class switch
recombination (CSR), a physiological process which relies on proper repair of the DSBs, in
B cells from Cernunnos-deficient patients. The pattern of in vivo generated CSR junctions is
altered in these cells, with unusually long microhomologies and a lack of direct end-joining.
The CSR junctions from Cernunnos-deficient patients largely resemble those from patients …
Cernunnos is involved in the nonhomologous end-joining (NHEJ) process during DNA double-strand break (DSB) repair. Here, we studied immunoglobulin (Ig) class switch recombination (CSR), a physiological process which relies on proper repair of the DSBs, in B cells from Cernunnos-deficient patients. The pattern of in vivo generated CSR junctions is altered in these cells, with unusually long microhomologies and a lack of direct end-joining. The CSR junctions from Cernunnos-deficient patients largely resemble those from patients lacking DNA ligase IV, Artemis, or ATM, suggesting that these factors are involved in the same end-joining pathway during CSR. By screening 269 mature B cell lymphoma biopsies, we also identified a somatic missense Cernunnos mutation in a diffuse large B cell lymphoma sample. This mutation has a dominant-negative effect on joining of a subset of DNA ends in an in vitro NHEJ assay. Translocations involving both Ig heavy chain loci and clonal-like, dynamic IgA switching activities were observed in this tumor. Collectively, our results suggest a link between defects in the Cernunnos-dependent NHEJ pathway and aberrant CSR or switch translocations during the development of B cell malignancies.
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