Figure 1.

Scheme to examine human BRCA2 variants using the mES cell-based assay and the location of variants on the protein. (A) Schematic representation of the mES cell-based assay for functional analysis of BRCA2. bacterial artificial chromosome (BAC) DNA containing desired variants was first introduced into mES cells with one knockout allele (KO) and one conditional allele (CKO) of Brca2. After Cre-mediated deletion of a conditional copy of Brca2 depending on the impact of the variants, cells may or may not be viable. The viable ES cells can be functionally similar to WT or defective in some function of BRCA2, depending on the effect of variants. (B) Schematic diagram of the BRCA2 protein showing the different domains and position of the variants analyzed in this study. The BRCA2-interacting partners are shown above the corresponding region of BRCA2 required for their interaction. Below the location of the variants used in this study are shown.