支持细胞
西斯特
精子发生
X染色体
生物
克氏综合征
X-失活
Y染色体
男科
内分泌学
细胞生物学
内科学
遗传学
医学
基因
作者
Sofia Boeg Winge,Niels E. Skakkebæk,Lise Aksglæde,Gülizar Saritaş,Ewa Rajpert‐De Meyts,Ellen Goossens,Anders Juul,Kristian Almstrup
标识
DOI:10.1038/s41419-024-06792-6
摘要
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.
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