Gene presence/absence variation in Mytilus galloprovincialis and its implications in gene expression and adaptation

Presence/absence variation (PAV) is a well-known phenomenon in prokaryotes that was described for the first time in bivalves in 2020 in Mytilus galloprovincialis. The objective of the present study was to further our understanding of the PAV phenomenon in mussel biology. The distribution of PAV was studied in a mussel chromosome-level genome assembly, revealing a widespread distribution but with hotspots of dispensability. Special attention was given to the effect of PAV in gene expression, since dispensable genes were found to be inherently subject to distortions due to their sparse distribution among individuals. Furthermore, the high expression and strong tissue specificity of some dispensable genes, such as myticins, strongly supported their biological relevance. The significant differences in the repertoire of dispensable genes associated with two geographically distinct populations suggest that PAV is involved in local adaptation. Overall, the PAV phenomenon would provide a key selective advantage at the population level. [Display omitted] •PAV genes are widespread in mussel chromosomes, but with dispensability hotspots•Dispensable genes show expression variation due to the dispersion among individuals•Dispensable and core myticins are the highest expressed genes of the whole genome•Dispensable genes are involved in local adaptation Genetics; Bioinformatics; Computational bioinformatics; Genomic analysis; Omics