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J Reprod Dev. 2019 Jan 7. doi: 10.1262/jrd.2018-145. [Epub ahead of print]

An azoospermic factor gene, Ddx3y and its paralog, Ddx3x are dispensable in germ cells for male fertility.

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Research Institute for Microbial Diseases, Osaka University, Osaka 565-0871, Japan.
Graduate School of Pharmaceutical Sciences, Osaka University, Osaka 565-0871, Japan.
Immunology Frontier Research Center, Osaka University, Osaka 565-0871, Japan.
Graduate School of Biological Sciences, Nara Institute of Science and Technology, Nara 630-0192, Japan.
The Institute of Medical Science, The University of Tokyo, Tokyo 108-8639, Japan.


About 10% of male infertile patients show abnormalities in spermatogenesis. The microdeletion of azoospermia factor a (AZFa) region of the Y chromosome is thought to be a cause of spermatogenic failure. However, candidate gene responsible for the spermatogenic failure in AZFa deleted patients has not been elucidated yet. Using mice, we explored the function of Ddx3y, a strong candidate gene in the AZFa region, and Ddx3x, a Ddx3y paralog on the X chromosome, in spermatogenesis. We first generated Ddx3y KO male mice using CRISPR/Cas9 and found that the Ddx3y KO male mice show normal spermatogenesis, produce morphologically normal spermatozoa, and sire healthy offspring. Because Ddx3x KO males were embryonic lethal, we next generated chimeric mice, which contain Ddx3x and Ddx3y double KO (dKO) germ cells, and found that the dKO germ cells can differentiate into spermatozoa and transmit their mutant alleles to offspring by normal mating. We conclude that Ddx3x and Ddx3y are dispensable for spermatogenesis at least in mice. Unlike human, mice have an additional Ddx3y paralog D1pas1, that has been reported to be essential for spermatogenesis. These findings suggest that human and mouse DDX3 related proteins have distinct differences in their functions.


Azoospermia factor region; CRISPR/Cas9; Chimeric analysis; Male infertility; Y chromosome

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