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

PDF(809 KB)
PDF(809 KB)
Life Medicine ›› 2023, Vol. 2 ›› Issue (2) : 11. DOI: 10.1093/lifemedi/lnac050
Letter
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

Author information +
History +

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 https://doi.org/10.1093/lifemedi/lnac050

References

[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.
CrossRef Google scholar
[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.
CrossRef Google scholar
[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.
CrossRef Google scholar
[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.
CrossRef Google scholar
[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.
CrossRef Google scholar
[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.
CrossRef Google scholar
[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.
CrossRef Google scholar
[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.
CrossRef Google scholar
[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.
CrossRef Google scholar
[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.
CrossRef Google scholar

RIGHTS & PERMISSIONS

2022 The Author(s) 2022. Published by Oxford University Press on behalf of Higher Education Press.
AI Summary AI Mindmap
PDF(809 KB)

Accesses

Citations

Detail

Sections
Recommended

/