Comprehensive analysis of somatic mutations and structural variations in domestic pig.

Kwon, Seong Gyu; Bae, Geon Hue; Hong, Joo Hee; Choi, Jeong-Woo; Choi, June Hyug; Lim, Nam Seop; Jeon, CheolMin; Mali, Nanda Maya; Jun, Mee Sook; Shin, JaeEun; Kim, JinSoo; Cho, Eun-Seok; Han, Man-Hoon; Oh, Ji Won

Understanding somatic mutations and structural variations in domestic pigs (Sus scrofa domestica) is critical due to their increasing importance as model organisms in biomedical research. In this study, we conducted a comprehensive analysis through whole-genome sequencing of skin, organs, and blood samples. By examining two pig pedigrees, we investigated the inheritance and sharedness of structural variants among fathers, mothers, and offsprings. Utilizing single-cell clonal expansion techniques, we observed significant variations in the number of somatic mutations across different tissues. An in-house developed pipeline enabled precise filtering and analysis of these mutations, resulting in the construction of individual phylogenetic trees for two pigs. These trees explored the developmental relationships between different tissues, revealing insights into clonal expansions from various anatomical locations. This study enhances the understanding of pig genomes, affirming their increasing value in clinical and genomic research, and provides a foundation for future studies in other animals, paralleling previous studies in mice and humans. This approach not only deepens our understanding of mammalian genomic variations but also strengthens the role of pigs as a crucial model in human health and disease research.

SOMATIC mutation; WHOLE genome sequencing; BLOOD sampling; GENOMES; MEDICAL research

Mammalian Genome, 2024, Vol 35, Issue 4, p645

0938-8990

Academic Journal

10.1007/s00335-024-10058-z