The origins and evolution of ancient genomic structural variants in hominins

This study explores hominin genetic variation, specifically focusing on previously understudied structural variants such as deletions and duplications of large DNA segments. The research advances knowledge about hominin adaptations and evolution from the distant past into the present, with anticipated outcomes emphasizing the shared genetic legacy of all humanity going back hundreds of thousands of years.

The project supports the study of structural variants and anthropological genomics through training, methods development, and collaboration. Through planned workshops, scholars in the field can discuss the challenges and opportunities for swiftly and effectively disseminating diverse anthropological datasets and computational approaches. The project also serves as a framework to continue the training of a diverse undergraduate and graduate trainee community, as well as engage with the public to promote STEM training and anthropological genomics, especially through collaborations with the Genome, Environment, and Microbiome Center of Excellence at the University at Buffalo.

Genomic structural variants, which are deletions, duplications, inversions, and translocations of large genetic segments in mammalian genomes, have not been a major focus in anthropological genetics because of methodological challenges and the cost of studying these types of variants. However, as new technologies make studying these variants more feasible, new research suggests a broad and previously underappreciated effect of structural variants on human evolution.

The study addresses hypotheses about balancing and positive selection as processes maintaining structural variants in the human lineage and generates opportunities for follow-up research to investigate the functional impact of structural variants, some of which may have biomedical relevance. The study has the potential to be transformative in our understanding of recent human evolution and the role of specific structural variants in shaping human biological variation.

This award reflects NSF's statutory mission and has been deemed worthy of support through evaluation using the Foundation's intellectual merit and broader impacts review criteria.