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Sperm acrosome overgrowth and infertility in mice lacking chromosome 18 pachytene piRNA


Autoři: Heejin Choi aff001;  Zhengpin Wang aff001;  Jurrien Dean aff001
Působiště autorů: Laboratory of Cellular and Developmental Biology, NIDDK, National Institutes of Health, Bethesda, MD, United States of America aff001
Vyšlo v časopise: Sperm acrosome overgrowth and infertility in mice lacking chromosome 18 pachytene piRNA. PLoS Genet 17(4): e1009485. doi:10.1371/journal.pgen.1009485
Kategorie: Research Article
doi: https://doi.org/10.1371/journal.pgen.1009485

Souhrn

piRNAs are small non-coding RNAs required to maintain genome integrity and preserve RNA homeostasis during male gametogenesis. In murine adult testes, the highest levels of piRNAs are present in the pachytene stage of meiosis, but their mode of action and function remain incompletely understood. We previously reported that BTBD18 binds to 50 pachytene piRNA-producing loci. Here we show that spermatozoa in gene-edited mice lacking a BTBD18 targeted pachytene piRNA cluster on Chr18 have severe sperm head dysmorphology, poor motility, impaired acrosome exocytosis, zona pellucida penetration and are sterile. The mutant phenotype arises from aberrant formation of proacrosomal vesicles, distortion of the trans-Golgi network, and up-regulation of GOLGA2 transcripts and protein associated with acrosome dysgenesis. Collectively, our findings reveal central role of pachytene piRNAs in controlling spermiogenesis and male fertility.

Klíčová slova:

Acrosomes – Germ cells – Sperm – Sperm head – Spermatids – Spermatogenesis – Testes – Vesicles


Zdroje

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