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X-chromosome loss rescues Sertoli cell maturation and spermatogenesis in Klinefelter syndrome

Winge, S. B.; Skakkebaek, N. E.; Aksglaede, L.; Saritas, G.; Rajpert-De Meyts, E.; Goossens, E.; Juul, A.; Almstrup, K.

2024-02-12 genetics
10.1101/2024.02.09.576184 bioRxiv
Show abstract

Klinefelter syndrome (47,XXY) causes infertility with a testicular histology comprising two types of Sertoli cell-only tubules, representing mature and immature-like Sertoli cells, and occasionally focal spermatogenesis. Here, we show that the immature Sertoli cells highly expressed XIST and have two X-chromosomes, while the mature Sertoli cells lack XIST expression and have only one X-chromosome. Sertoli cells supporting focal spermatogenesis also lack XIST expression and the additional X-chromosome, while the spermatogonia expressed XIST despite having only one X-chromosome. XIST was expressed in Sertoli cells until puberty, where a gradual loss was observed. Our results suggest that a micro-mosaic loss of the additional X-chromosome is needed for Sertoli cells to mature and to allow focal spermatogenesis.

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