Fig 2: Expression of SYCP3 and ?H2AX in the testis of the patient with SYCE1 CNVs and OA-affected patient as a positive control. A–C Immunofluorescence staining showed the expression of SYCP3 (Green) and ?H2AX (Red) in the testis of the patient P6326 (A), P10377 (B), and the patient with OA as a positive control (C) Scale bars = 20 µm in A–D. And the arrowhead indicated the XY body in the spermatocytes in the testis of the patient with OA

Fig 3: Expression of SYCP3 and ?H2AX in the testis of NOA-affected patients and a patient with OA as positive control. IHC staining showed the expression of SYCP3 (green) and ?H2AX (red) in the testis of the P9359 (A), P9517 (B), P9540 (C), P21504 (D), and a patient with OA (E). The arrow indicates the XY body in the spermatocytes in the testis. Scale bars = 50 µm

Fig 4: Expression of SYCP3 and ?H2AX in the testis of affected patients and a patient with OA as positive control. Immunohistochemical staining showed the expression of SYCP3 (green) and ?H2AX (red) in the testis of the patient with OA (positive control) (A), the P5648 (B), the P6825 (C), 7583 (D). Scale bars = 50 µm in panels (A–D). The arrow indicates the XY body in the spermatocytes in the testis.

Fig 5: ATR-dependent reestablishment of MSCI from unsynapsed axes.a Schematic of the experimental design. Following 24 h incubation with the ATRi AZ20, spermatocytes were additionally incubated for 30 min without ATRi. b, c Chromosome spreads of mid-late pachytene spermatocytes harvested 30 min after release from a 24 h incubation with ATRi and immunostained with antibodies raised against SYCP3, ?H2AX, and H1T (b) and SYCP3, Pol II, and ?H2AX (c). Representative images of 3 independent experiments are shown. XY chromosomes are indicated with dashed squares and are magnified at the bottom (b) and the middle right and right (c). c Intensities of ?H2AX and Pol II on yellow lines, marked with “I–II”, were measured and are shown in the right-hand panels; the upper panel shows control and the bottom panel shows a spermatocyte harvested 30 min after release from a 24 h incubation with ATRi. Red: ?H2AX, Black: RNA Pol II. Source data are provided as a Source Data file.