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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.
摘要：
Klinefelter综合征（47，XXY）导致不育的睾丸组织学包括两种类型的仅支持细胞的小管，代表成熟和未成熟的支持细胞，偶尔会出现局灶性精子发生。这里,我们表明，未成熟的类支持细胞高度表达XIST，并有两个X染色体，而成熟的支持细胞缺乏XIST表达，只有一条X染色体。支持局灶性精子发生的支持细胞也缺乏XIST表达和额外的X染色体，而精原细胞表达XIST，尽管只有一个X染色体。XIST在支持细胞中表达直到青春期，观察到逐渐损失。我们的结果表明，睾丸支持细胞成熟并允许局灶性精子发生需要额外的X染色体的微马赛克丢失。
