{Reference Type}: Journal Article
{Title}: X‑chromosome loss rescues Sertoli cell maturation and spermatogenesis in Klinefelter syndrome.
{Author}: Winge SB;Skakkebaek NE;Aksglaede L;Saritaş G;Rajpert-De Meyts E;Goossens E;Juul A;Almstrup K;
{Journal}: Cell Death Dis
{Volume}: 15
{Issue}: 6
{Year}: 2024 Jun 5
暂无{DOI}: 10.1038/s41419-024-06792-6
{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-like Sertoli cells highly expressed XIST and had two X-chromosomes, while the mature Sertoli cells lacked XIST expression and had only one X-chromosome. Sertoli cells supporting focal spermatogenesis also lacked 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.