PRDM9-mediated meiotic hotspot specification is constrained in humans despite extensive sequence diversity
Rachel L. Cosby, Marja G. Brolinson, Alexandra M. Poch, M. Blake Evans, Dawn E. Watkins‐Chow, Briana Young, Sherry Ralls, Veronica Gomez‐Lobo, Kenneth Ivan Aston, Donald F. Conrad, Todd S. Macfarlan
The paper functionally characterizes human PRDM9 alleles to show that despite sequence diversity, most alleles function similarly, while rare variants show extreme DNA binding effects.
bioRxiv · Sep 15, 2026 · PreprintGenomics