Mutagenicity in germ cells and detection of de novo mutations in the offspring

Abstract

Gene mutation induced by environmental mutagens is an important health factor. Germline mutations are sources of genetic diversity but may cause adverse outcome such as genetic diseases. We investigated mutation frequencies (MFs) in sperm of ENU-treated male mice by reporter gene assay and de novo germline MFs in their offspring by whole exome/genome sequencing. Point mutations induced in male germ cells caused in dose-dependent increase of de novo mutations in the offspring. It is important to evaluate mutagenic effects of environmental perturbations.