Biallelic mutations in IQCN, encoding a novel acroplaxome protein, lead to fertilization failure and male infertility with defects in the acrosome and shaping of the spermatid head in humans and mice

Yanwei Sha; Yongjie Chen; Xiong Wang; Ranran Meng; Xiaoyan Yang; Youzhu Li; Pengpeng Jin; Shanze Li; Jie Chen; Tianyu WShao; Dan Xu; Yibiao Guo; Zhaodi Jiang; Yuhua Li; Shuntai Yu; Lin Li; Fengchao Wang

doi:10.1093/lifemedi/lnac050

Life Medicine ›› 2023, Vol. 2 ›› Issue (2) : 11 DOI: 10.1093/lifemedi/lnac050

Letter

Biallelic mutations in IQCN, encoding a novel acroplaxome protein, lead to fertilization failure and male infertility with defects in the acrosome and shaping of the spermatid head in humans and mice

Yanwei Sha ¹^,²^,³
, Yongjie Chen ⁴^,^†
, Xiong Wang ⁵
, Ranran Meng ⁶^,⁷
, Xiaoyan Yang ⁷
, Youzhu Li ⁸
, Pengpeng Jin ⁷
, Shanze Li ⁶^,⁷
, Jie Chen ⁵
, Tianyu WShao ⁷^,⁹
, Dan Xu ⁷
, Yibiao Guo ¹⁰
, Zhaodi Jiang ⁷
, Yuhua Li ⁷
, Shuntai Yu ⁷^,⁹
, Lin Li ⁴^,^†
, Fengchao Wang ⁷^,¹¹^,^†

Author information +

¹. Department of Andrology, Women and Children’s Hospital, School of Medicine, Xiamen University, Xiamen 361005, China

². Fujian Provincial Key Laboratory of Reproductive Health Research, School of Medicine, Xiamen University, Xiamen 361102, China

³. State Key Laboratory of Molecular Vaccinology and Molecular Diagnostics, School of Public Health, Xiamen University, Xiamen 361102, China

⁴. Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing 100006, China

⁵. Reproductive Medicine Center, Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai 264000, China

⁶. College of Life Sciences, Beijing Normal University, Beijing 100875, China

⁷. National Institute of Biological Sciences, Beijing 102206, China

⁸. Department of Reproductive Medicine, The First Affiliated Hospital of Xiamen University, School of Medicine, Xiamen University, Xiamen 361003, China

⁹. Academy for Advanced Interdisciplinary Studies (AAIS), and Peking University–Tsinghua University—National Institute of Biological Sciences Joint Graduate Program (PTN), Peking University, Beijing 100871, China

¹⁰. Department of Reproductive Medicine, Quanzhou Women and Children’s Hospital, Quanzhou 362000, China

¹¹. Tsinghua Institute of Multidisciplinary Biomedical Research, Tsinghua University, Beijing 100084, China

chenyongjie@ccmu.edu.cn

linlithu@ccmu.edu.cn

wangfengchao@nibs.ac.cn

Show less

History +

PDF (809KB)

Cite this article

Download citation ▾

Yanwei Sha, Yongjie Chen, Xiong Wang, Ranran Meng, Xiaoyan Yang, Youzhu Li, Pengpeng Jin, Shanze Li, Jie Chen, Tianyu WShao, Dan Xu, Yibiao Guo, Zhaodi Jiang, Yuhua Li, Shuntai Yu, Lin Li, Fengchao Wang. Biallelic mutations in IQCN, encoding a novel acroplaxome protein, lead to fertilization failure and male infertility with defects in the acrosome and shaping of the spermatid head in humans and mice. Life Medicine, 2023, 2(2): 11 DOI:10.1093/lifemedi/lnac050

登录浏览全文

4963

注册一个新账户忘记密码

References

Publishing order | Descend order by publishing year | Descend order by cited within

[1]	Dai J, Zhang T, Guo J, et al. Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice. Am J Hum Genet 2021;108:469–81.

[2]	Xin A, Qu R, Chen G, et al. Disruption in ACTL7A causes acrosomal ultrastructural defects in human and mouse sperm as a novel male factor inducing early embryonic arrest. Sci Adv 2020;6:eaaz4796.

[3]	Boëda B, Knowles PP, Briggs DC, et al. Molecular recognition of the Tes LIM2-3 domains by the actin-related protein Arp7A. J Biol Chem 2011;286:11543–54.

[4]	Kierszenbaum AL, Rivkin E, Tres LL. Acroplaxome, an F-actin-keratincontaining plate, anchors the acrosome to the nucleus during shaping of the spermatid head. Mol Biol Cell 2003;14:4628–40.

[5]	Bianchi E, Doe B, Goulding D, et al. Juno is the egg Izumo receptor and is essential for mammalian fertilization. Nature 2014;508:483–7.

[6]	Kimura Y, Yanagimachi R, Kuretake S, et al. Analysis of mouse oocyte activation suggests the involvement of sperm perinuclear material. Biol Reprod 1998;58:1407–15.

[7]	Odawara Y, Matsumoto K, Shinozuka S, et al. Zona manipulation in an assisted reproductive technologies (ART) programme. J Obstet Gynaecol (Tokyo 1995) 1995;21:83–8.

[8]	Yumoto K, Shimura T, Mio Y. Removing the zona pellucida can decrease cytoplasmic fragmentations in human embryos: a pilot study using 3PN embryos and time-lapse cinematography. J Assist Reprod Genet 2020;37:1349–54.

[9]	Mansour RT, Rhodes CA, Aboulghar MA, et al. Transfer of zona-free embryos improves outcome in poor prognosis patients: a prospective randomized controlled study. Hum Reprod 2000;15:1061–4.

[10]	Kirienko KV, Apryshko VP, Naumova AA, et al. Mechanical zona pellucida removal of vitrified-warmed human blastocysts does not affect the clinical outcome. Reprod Biomed Online 2019;39:745–9.