X‑chromosome loss rescues Sertoli cell maturation and spermatogenesis in Klinefelter syndrome
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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.
Original language | English |
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Article number | 396 |
Journal | Cell Death & Disease |
Volume | 15 |
Issue number | 6 |
Number of pages | 9 |
ISSN | 2041-4889 |
DOIs | |
Publication status | Published - 2024 |
Bibliographical note
© 2024. The Author(s).
- Klinefelter Syndrome/genetics, Male, Sertoli Cells/metabolism, Spermatogenesis/genetics, Animals, Humans, Mice, RNA, Long Noncoding/genetics, Chromosomes, Human, X/genetics, X Chromosome/genetics
Research areas
ID: 393783537