Recent Progress in Characterizing Germline Mutations and Their Transmission Across Generations

Genome mutations in germ cells are fundamental to evolution and genetic diversity, while they also cause developmental abnormalities and genetic diseases, making their study essential in both biology and medicine. Research on germline mutations has advanced from classical genetic approaches, through transgenic model analyses, to next-generation sequencing, contributing to our understanding of germline mutations and their origins and inheritance. In particular, recent advances in sequencing technologies, including duplex sequencing and long-read sequencing, enable highly accurate detection of rare mutations and complex genomic alterations, including structural variants and repeat-associated changes, providing a more comprehensive view of mutational landscapes. Research progress has also been made in transposon regulation and spermatogonial stem cell dynamics, revealing additional layers of genome regulation in the germ line. These advances have greatly expanded our understanding of the germline genome and provide a foundation for future research in genetics, evolution, and reproductive biology.