Mutations of <i>WDR62</i> gene were detected in patients with premature ovarian insufficiency (POI).

(A) Genomic structure of WDR62 and chromatograms of two mutations identified in POI patients by Sanger sequencing. Alignment of the coding strand of WDR62 in nine eutherian mammals from Ensembl database. (B) The characteristics of WDR62 novel mutations detected in the two patients. (C)The mutations of WDR62 gene observed in POI patients play a dominant negative role in regulating Stra8 expression. The Stra8 promoter activity induced by wild-type WDR62 (WT) and WDR62 carrying the mutations detected in POI patients (M1 and M2) was analyzed by luciferase assay. The Stra8 promoter was activated by WT when RA was present, but not by mutants. The WDR62 induced Stra8 promoter activity was attenuated by co-transfection of WT and mutant expression vectors. Data are presented as the mean ± SEM. ns, p > 0.05, *p < 0.05; **p < 0.01.