POU6F2 mutation identified in humans with pubertal failure shifts isoform formation and alters GnRH transcript expression
Hyun-Ju Cho, Fatih Gürbüz, Maria I. Stamou, Leman Damla Kotan, Stephen Matthew Farmer, Şule Can, Miranda Faith Tompkins, Jamala Mammadova, Ayça Altıncık, Cumali Gökçe, Gönül Çatlı, Fuat Buğrul, Keenan Bartlett, İhsan Turan, Ravikumar Balasubramanian, , Ali Kemal Topaloglu
The paper identifies POU6F2 mutations in IHH patients, showing isoform1 regulates GnRH expression and variants disrupt this function, contributing to pubertal failure.
bioRxiv · Oct 12, 2022 · PreprintGenetics