A common 1.6 Mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans
Pille Hallast, Laura Kibena, Margus Punab, Elena Arciero, Siiri Rootsi, Marina Grigorova, Rodrigo Flores, Mark A. Jobling, Olev Poolamets, Kristjan Pomm, Paul Korrovits, Kristiina Rull, Yali Xue, Chris Tyler‐Smith, Maris Laan
The paper identifies a 1.6 Mb Y-chromosomal inversion in the AZFc region as a high-penetrant risk factor for male infertility, increasing the risk of spermatogenic failure by 8.6-fold.
eLife · Mar 29, 2021Peer-reviewedGenetic & Genomic Medicine