Fig. 2 | Nature Communications

Fig. 2

From: Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility

Fig. 2

Csmd1 is expressed in the male and female gonads. a Protein model of CSMD1 in human and mouse. CUB and Sushi domains, as well as the transmembrane and cytosolic domains are depicted along the protein model (97.1% of the CSMD1 protein is extracellular). b RNA expression of mouse Csmd1 in sexually immature whole testes (20 days), sexually mature whole testes (40 days), and whole ovary. RNA-seq of FACS-purified germ cell populations show Csmd1 expression changes during spermatogenesis. Csmd1 RNA is maximally expressed at the spermatid period of development. Boxplot center line = median; hinges = upper and lower quartiles; whiskers = 1.5 × interquartile range. Line chart error bars reflect standard error of the mean. c CSMD1 protein immunofluorescence in developing oocytes (marked by MVH) and surrounding somatic cells. MVH expression decreases, whereas CSMD1 expression increases with follicular development. CSMD1 encircles the oocytes at all follicle stages. Follicles named in each box are marked with white arrows when necessary. Theca cells are indicated by stars. d CSMD1 is maximally expressed at the oocyte surface and extends into the transzonal projections (white arrowheads), which physically connect the germ cell to the surrounding somatic granulosa cells (left). During ovulation the follicle releases the oocyte and regresses to form the corpus luteum (dashed lines). CSMD1 signal is absent. An oocyte is highlighted for comparison (white arrowhead, right). e Immunofluorescence (IF) visualization of CSMD1 (red) in testis seminiferous tubule cross sections (xy axis). CSMD1 protein is broadly expressed in germ cells across all stages of spermatogenesis. MVH is a primordial germ cell marker whose expression peaks early, then steadily decreases during spermatogenesis/oogenesis. CSMD1 is maximally expressed in elongating spermatids (white arrowheads). f Whole mount testis tubule preparation (z axis). F480-positive macrophages (green) with characteristic ramified processes occupy the longitudinal interstitial space. CSMD1 (red) is expressed in a hatched pattern which may correspond to the actin cytoskeleton of peritubular myoid cells and Sertoli cells. Four Sertoli cells surrounding a macrophage outlined by dotted lines. All scale bars = 50 μm. Source data are provided as a Source Data file

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