English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Tools annual

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Presents the access of premium content as premium feature

Premium Content

Global: Zendy Plus annual

Global: Zendy Free Plan

Azoospermia is one of the major reproductive disorders which cause male infertility in humans; however, the etiology of this disease is largely unknown. In the present study, six missense mutations of  WT1  gene were detected in 529 human patients with non-obstructive azoospermia (NOA), indicating a strong association between  WT1  mutation and NOA. The Wilms tumor gene,  Wt1,  is specifically expressed in Sertoli cells (SCs) which support spermatogenesis. To examine the functions of this gene in spermatogenesis,  Wt1  was deleted in adult testis using  Wt1 flox   and  Cre-ER TM   mice strains. We found that inactivation of  Wt1  resulted in massive germ cell death and only SCs were present in most of the seminiferous tubules which was very similar to NOA in humans. In investigating the potential mechanism for this, histological studies revealed that the blood–testis barrier (BTB) was disrupted in  Wt1  deficient testes. In vitro studies demonstrated that  Wt1  was essential for cell polarity maintenance in SCs. Further studies found that the expression of cell polarity associated genes ( Par6b  and  E-cadherin ) and Wnt signaling genes ( Wnt4, Wnt11 ) were downregulated in  Wt1  deficient SCs, and that the expression of  Par6b  and  E-cadherin  was regulated by  Wnt4 . Our findings suggest that  Wt1  is important in spermatogenesis by regulating the polarity of SCs via Wnt signaling pathway and that  WT1  mutation is one of the genetic causes of NOA in humans.

plos genetics

The Wilms Tumor Gene, Wt1, Is Critical for Mouse Spermatogenesis via Regulation of Sertoli Cell Polarity and Is Associated with Non-Obstructive Azoospermia in Humans