SOX30 is required for male fertility in mice

Feng, Chun-Wei Allen, Spiller, Cassy, Merriner, Donna J., O'Bryan, Moira K., Bowles, Josephine and Koopman, Peter (2017) SOX30 is required for male fertility in mice. Scientific Reports, 7 1: 1-12. doi:10.1038/s41598-017-17854-5

Author Feng, Chun-Wei Allen
Spiller, Cassy
Merriner, Donna J.
O'Bryan, Moira K.
Bowles, Josephine
Koopman, Peter
Title SOX30 is required for male fertility in mice
Journal name Scientific Reports   Check publisher's open access policy
ISSN 2045-2322
Publication date 2017-12-15
Year available 2017
Sub-type Article (original research)
DOI 10.1038/s41598-017-17854-5
Open Access Status DOI
Volume 7
Issue 1
Start page 1
End page 12
Total pages 12
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Language eng
Abstract Male infertility is a major and growing problem and, in most cases, the specific root cause is unknown. Here we show that the transcription factor SOX30 plays a critical role in mouse spermatogenesis. Sox30-null mice are healthy and females are fertile, but males are sterile. In the absence of Sox30 meiosis initiates normally in both sexes but, in males, germ cell development arrests during the post-meiotic round spermatid period. In the mutant testis, acrosome and axoneme development are aberrant, multinucleated germ cells (symplasts) form and round spermatids unable to process beyond step 3 of spermiogenesis. No elongated spermatids nor spermatozoa are produced. Thus, Sox30 represents a rare example of a gene for which loss of function results in a complete arrest of spermatogenesis at the onset of spermiogenesis. Our results suggest that SOX30 mutations may underlie some instances of unexplained non-obstructive azoospermia in humans.
Keyword Germ-cell differentiation
Sry-related gene
Intercellular bridges
Targeted deletion
Male infertility
Q-Index Code C1
Q-Index Status Provisional Code
Grant ID U01 HG004080
U01 HG004085
U42 RR024244
Institutional Status UQ
Additional Notes Article number 17619

Document type: Journal Article
Sub-type: Article (original research)
Collections: HERDC Pre-Audit
School of Biomedical Sciences Publications
Institute for Molecular Bioscience - Publications
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Created: Wed, 20 Dec 2017, 12:07:06 EST