BRCA1/brc-1 deficiency leads to accumulation of mutations in C. elegans

Mutation accumulation lines of C. elegans animals were grown for ~50 generations prior to whole-genome sequencing together with relevant controls. Several indepent populations were sequenced of each genotype and CNV were discovered. BRCA1/brc-1 plays an important role in preventing small (1-50bp) deletions and tandem duplications in the genome of the nematode species C. elegans. Furthermore these small deletions are dependent on the error-prone double-strand repair pathway polymerase theta-mediated end-joining.