Research Paper Volume 11, Issue 24 pp 12581—12599

FOXP3 pathogenic variants cause male infertility through affecting the proliferation and apoptosis of human spermatogonial stem cells


Figure 1. Identification of FOXP3 genomic PV from patients with NOA. (A) A total of 314 patients with NOA and 14 OA patient controls were analyzed in this study. Ten PV of FOXP3 were identified in 314 NOA patients (3.18% incidence, 10/314), whereas no PV of FOXP3 was seen in the OA controls. (B) Chromatogram of the sequences in the mutant region of NOA patients and corresponding OA controls. (C) Comparison of the wild-type and mutant FOXP3 proteins. (D) FOXP3 structure model and stability prediction. (E) Pedigrees of Patients 1, 2 and 10 for their FOXP3 PV. Circles, females; squares, males. Filled symbols, affected individuals; open symbols, unaffected individuals; gray symbols, carriers.