Randomized trial shows the role of microhomology-mediated duplications in genomic variation, implying disease linkages.
Key Points
This research aims to elucidate the mechanisms and evolutionary significance of microhomology-mediated tandem duplications (MTDs) across various life forms.
Utilized whole-genome deep sequencing and a unified analytical framework across 2,245 reference genomes and microbial species.
Analyzed human datasets to identify microhomology signatures among tandem duplications.
Investigated genetic manipulation effects on MTD formation in budding yeast.
MTDs represent a major source of tandem duplication across bacteria, archaea, fungi, and viruses.
Most MTDs are found to evolve under neutral dynamics, with purifying selection reducing their presence in coding areas.
Human tandem duplications linked to microhomology are overrepresented in pathogenic variants associated with genome instability and cancer.