A missense in HSF2BP causing Primary Ovarian Insufficiency affects meiotic recombination by its novel interactor C19ORF57/MIDAP
Natalia Felipe‐Medina, Sandrine Caburet, Fernando Sánchez-Sáez, Yazmine B. Condezo, Dirk G. de Rooij, Laura Gómez-H, Rodrigo García-Valiente, Anne‐Laure Todeschini, Paloma Duque, Manuel Sánchez‐Martín, Stavit Allon Shalev, Elena Llano, Reiner A. Veitia, Alberto M. Pendás
The paper identifies a missense variant in HSF2BP linked to POI, showing it impairs meiotic recombination by affecting its interaction with MIDAP and reducing recombinase activity.
eLife · Aug 26, 2020Peer-reviewedGenetics