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

Matsumura, Takafumi; Endo, Tsutomu; Isotani, Ayako et al.

Journal of Reproduction and Development, 2019, 65(2), 121-128

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Identifier to cite or link to this item: https://hdl.handle.net/11094/78562

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Title
An azoospermic factor gene, Ddx3y and its paralog, Ddx3x are dispensable in germ cells for male fertility
Creator
CreatorName
Matsumura, Takafumi
NRID
1000040813936 1000040813936
CreatorName
Endo, Tsutomu
NRID
1000020444523 1000020444523
CreatorName
Isotani, Ayako
CreatorName
Ogawa, Masaki
NRID
1000020304066 1000020304066
ORCID
0000-0001-9859-6217 0000-0001-9859-6217
researchmap permalink
read0054910 read0054910
Scopus Author ID
16689054500 16689054500
CreatorName
Ikawa, Masahito
Subject
Azoospermia factor region
Chimeric analysis
CRISPR/Cas9
Male infertility
Y chromosome
Description
Takafumi MATSUMURA, Tsutomu ENDO, Ayako ISOTANI, Masaki OGAWA, Masahito IKAWA, An azoospermic factor gene, Ddx3y and its paralog, Ddx3x are dispensable in germ cells for male fertility, Journal of Reproduction and Development, 2019, Volume 65, Issue 2, Pages 121-128, Released April 12, 2019, [Advance publication] Released January 07, 2019, Online ISSN 1348-4400, Print ISSN 0916-8818, https://doi.org/10.1262/jrd.2018-145, https://www.jstage.jst.go.jp/article/jrd/65/2/65_2018-145/_article/-char/en
Abstract
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.
Publisher
The Japanese Society of Animal Reproduction (JSAR)
Source Title
Journal of Reproduction and Development
Volume (Issue)
65(2)
Page
121-128
Date of Issued
2019
Language
English
Handle URL
https://hdl.handle.net/11094/78562
PISSN
09168818
eISSN
13484400
NCID
AA12018734
Relation.isIdenticalTo
DOI (Publisher Version)
https://doi.org/10.1262/jrd.2018-145
PMID
30613052
Access Rights
open access
CopyRight
© 2019 the Society for Reproduction and Development. This article is licensed under a Creative Commons Attribution 4.0 International License.
oaire:version
Version of Record
Category
学術雑誌論文 Journal Article