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Usp26 mutation in mice leads to defective spermatogenesis depending on genetic background.
Scientific Reports ( IF 3.8 ) Pub Date : 2019-09-24 , DOI: 10.1038/s41598-019-50318-6
Kohei Sakai 1 , Chizuru Ito 2 , Mizuki Wakabayashi 1 , Satoko Kanzaki 1 , Toshiaki Ito 1 , Shuji Takada 3 , Kiyotaka Toshimori 2, 4 , Yoichi Sekita 1 , Tohru Kimura 1
Scientific Reports ( IF 3.8 ) Pub Date : 2019-09-24 , DOI: 10.1038/s41598-019-50318-6
Kohei Sakai 1 , Chizuru Ito 2 , Mizuki Wakabayashi 1 , Satoko Kanzaki 1 , Toshiaki Ito 1 , Shuji Takada 3 , Kiyotaka Toshimori 2, 4 , Yoichi Sekita 1 , Tohru Kimura 1
Affiliation
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Spermatogenesis is a reproductive system process that produces sperm. Ubiquitin specific peptidase 26 (USP26) is an X chromosome-linked deubiquitinase that is specifically expressed in the testes. It has long been controversial whether USP26 variants are associated with human male infertility. Thus, in the present study, we introduced a mutation into the Usp26 gene in mice and found that Usp26 mutant males backcrossed to a DBA/2 background, but not a C57BL/6 background, were sterile or subfertile and had atrophic testes. These findings indicate that the effects of the Usp26 mutation on male reproductive capacity were influenced by genetic background. Sperm in the cauda epididymis of Usp26 mutant mice backcrossed to a DBA/2 background were decreased in number and showed a malformed head morphology compared to those of wild-type mice. Additionally, histological examinations of the testes revealed that the number of round and elongated spermatids were dramatically reduced in Usp26 mutant mice. The mutant mice exhibited unsynapsed chromosomes in pachynema and defective chiasma formation in diplonema, which presumably resulted in apoptosis of metaphase spermatocytes and subsequent decrease of spermatids. Taken together, these results indicate that the deficiencies in fertility and spermatogenesis caused by mutation of Usp26 were dependent on genetic background.
中文翻译:
小鼠中的Usp26突变会导致有缺陷的精子发生,具体取决于遗传背景。
精子发生是产生精子的生殖系统过程。泛素特异性肽酶26(USP26)是X染色体连锁的去泛素酶,在睾丸中特异性表达。USP26变体是否与人类男性不育有关,一直存在争议。因此,在本研究中,我们在小鼠的Usp26基因中引入了一个突变,并发现与DBA / 2背景而非C57BL / 6背景回交的Usp26突变雄性不育或亚生育力,并具有萎缩性睾丸。这些发现表明,Usp26突变对男性生殖能力的影响受遗传背景的影响。与野生型小鼠相比,回交至DBA / 2背景的Usp26突变型小鼠的马尾附睾中的精子数量减少,头部形态畸形。此外,睾丸的组织学检查显示,在Usp26突变小鼠中,圆形和细长精子细胞的数量显着减少。突变的小鼠表现出在早幼生殖细胞中未突触的染色体和在假单胞菌中形成缺陷的as裂,这可能导致中期精子细胞的凋亡和随后精子细胞的减少。综上所述,这些结果表明由Usp26突变引起的生育能力和精子发生的缺陷取决于遗传背景。可能导致中期精子细胞凋亡,继而减少精子细胞。综上所述,这些结果表明,由Usp26突变引起的生育力和精子生成的缺陷取决于遗传背景。可能导致中期精子细胞凋亡,继而减少精子细胞。综上所述,这些结果表明由Usp26突变引起的生育能力和精子发生的缺陷取决于遗传背景。
更新日期:2019-09-25
中文翻译:

小鼠中的Usp26突变会导致有缺陷的精子发生,具体取决于遗传背景。
精子发生是产生精子的生殖系统过程。泛素特异性肽酶26(USP26)是X染色体连锁的去泛素酶,在睾丸中特异性表达。USP26变体是否与人类男性不育有关,一直存在争议。因此,在本研究中,我们在小鼠的Usp26基因中引入了一个突变,并发现与DBA / 2背景而非C57BL / 6背景回交的Usp26突变雄性不育或亚生育力,并具有萎缩性睾丸。这些发现表明,Usp26突变对男性生殖能力的影响受遗传背景的影响。与野生型小鼠相比,回交至DBA / 2背景的Usp26突变型小鼠的马尾附睾中的精子数量减少,头部形态畸形。此外,睾丸的组织学检查显示,在Usp26突变小鼠中,圆形和细长精子细胞的数量显着减少。突变的小鼠表现出在早幼生殖细胞中未突触的染色体和在假单胞菌中形成缺陷的as裂,这可能导致中期精子细胞的凋亡和随后精子细胞的减少。综上所述,这些结果表明由Usp26突变引起的生育能力和精子发生的缺陷取决于遗传背景。可能导致中期精子细胞凋亡,继而减少精子细胞。综上所述,这些结果表明,由Usp26突变引起的生育力和精子生成的缺陷取决于遗传背景。可能导致中期精子细胞凋亡,继而减少精子细胞。综上所述,这些结果表明由Usp26突变引起的生育能力和精子发生的缺陷取决于遗传背景。