Discovery of CCDC188 gene as a novel genetic target for human acephalic spermatozoa syndrome
Jing Wang, Hui-Juan Jin, Yi Lu, Zi-Han Wang, Teng-Yan Li, Lan Xia, Hong-Jun Li, Bin-Bin Wang, Su-Ren Chen
Discovery of CCDC188 gene as a novel genetic target for human acephalic spermatozoa syndrome
[1] |
Elkhatib RA, Paci M, Longepied G et al. Homozygous deletion of SUN5 in three men with decapitated spermatozoa. Hum Mol Genet 2017;26:3167–3171.
|
[2] |
Jiao SY, Yang YH, Chen SR. Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice. Hum Reprod Update 2021;27:154–189.
CrossRef
Google scholar
|
[3] |
Lu M, Kong S, Xiang M et al. A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome. J Assist Reprod Genet 2021;38:949–955.
CrossRef
Google scholar
|
[4] |
Sha YW, Xu X, Ji ZY et al. Genetic contribution of SUN5 mutations to acephalic spermatozoa in Fujian China. Gene 2018;647:221–225.
CrossRef
Google scholar
|
[5] |
Sha YW, Wang X, Xu X et al. Biallelic mutations in PMFBP1 cause acephalic spermatozoa. Clin Genet 2019;95:277–286.
CrossRef
Google scholar
|
[6] |
Shang Y, Zhu F, Wang L et al. Essential role for SUN5 in anchoring sperm head to the tail. Elife. 2017;6:e28199.
CrossRef
Google scholar
|
[7] |
Wang Y, Xiang MF, Zheng N et al. Genetic pathogenesis of acephalic spermatozoa syndrome: past, present, and future. Asian J Androl 2022;24:231–237.
CrossRef
Google scholar
|
[8] |
Wu B, Gao H, Liu C et al. The coupling apparatus of the sperm head and tail. Biol Reprod 2020;102:988–998.
CrossRef
Google scholar
|
[9] |
Xiang M, Wang Y, Wang K et al. Novel mutation and deletion in SUN5 cause male infertility with acephalic spermatozoa syndrome. Reprod Sci 2022;29:646–651.
CrossRef
Google scholar
|
[10] |
Yuan S, Stratton CJ, Bao J et al. Spata6 is required for normal assembly of the sperm connecting piece and tight head-tail conjunction. Proc Natl Acad Sci U S A 2015;112:E430–E439.
CrossRef
Google scholar
|
[11] |
Zhang Y, Liu C, Wu BB et al. The missing linker between SUN5 and PMFBP1 in sperm head-tail coupling apparatus. Nat Commun 2021;12:4926.
CrossRef
Google scholar
|
[12] |
Zhu F, Wang F, Yang X et al. Biallelic SUN5 mutations cause autosomal-recessive acephalic spermatozoa syndrome. Am J Hum Genet 2016;99:942–949.
CrossRef
Google scholar
|
[13] |
Zhu F, Liu C, Wang F et al. Mutations in PMFBP1 cause acephalic spermatozoa syndrome. Am J Hum Genet 2018;103:188–199.
CrossRef
Google scholar
|
/
〈 | 〉 |