C26232T Mutation in Nsun7 Gene and Reduce Sperm Motility in Asthenoteratospermic Men

Document Type : Research Article


1 Department of Molecular and Cell Biology, Faculty of Basic Sciences, University of Mazandaran, Babolsar, Postal Code 47416-95447, Mazandaran, Iran.

2 Fateme Zahra Infertility and Health Reproductive Research Center, Babol University of Medical Sciences, Babol, Iran


Reduced sperm quantity and motility are primary causes of infertility in men. Before researchers showed that, Nsun7 gene has roles in sperm motility of mouse, that creation defect in this gene is cause infertility. This gene in human located in chromosome 4, with 12 exons and a hot spot exon (exon7). Our aim is study of the mutations of the exon7 in the normospermic and asthenoteratospermic men. For this, 30 semen samples including fertile and asthenoteratospermic men were collected from IVF center. Semen analysis was performed according to WHO guidelines. A Phenol-chloroform method was used for total DNA extraction from sperm. The exons 7 amplified by forward primer Sun7-F: 5’-GACAAATCTCGAAGTCTTGCTG; and reverse primer Sun7-R: 5’-ACATCCTATTTTTGTGAAAAGGGT. The PCR products direct sequenced and analyzed for mutations. Analyses of PCR direct sequences showed transition mutation (C26232T) in asthenoteratospermic men. This mutation doesn't see in fertile men. We probably that, low semen parameters of the asthenoteratospermic men can be close correlate with these mutations. Thus, analyses of exon 7 direct sequence candidate as a one of diagnosis genetic markers of infertility.


Dana A, Alan C. 1996. Assessment of sperm function and clinical aspects of impaired sperm function. Front Biosci 1: e96-108.
Gnoth C, Godehardt E, Frank-Herrman P, Friol K, Tigges J, Freundl G. 2005. Definition and prevalence of subfertility and infertility. Hum Reprod 20(5)1144-1147.
Green MR, Sambrook J. 2012. Molecular cloning: A laboratory manual, 4th ed., Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York.
Harris T, Marquez B, Suarez S, Schimenti J. 2007. Sperm motility defects and infertility in male mice with a mutation in Nsun7, a member of the sun domain-containing family of putative RNA methyltransferases. Biol Reprod 77: 376–382.
Holstein A, Schulze W, and Davidoff M. 2003. Understanding spermatogenesis is a prerequisite for treatment. Reprod Biol Endocrinol 1: 107.
Hull MG, Glazener CM, Kelly NJ, Conway DI, Foster PA, Hinton RA, Coulson C, Lambert PA, Watt EM, Desai KM. 1985. Population study of causes, treatment and outcome of infertility. Br Med J 291: 1693-1697.
Juhasz J, Nagy P, Kulcsar M, Huszenicza GY. 2000. Methods for semen and endocrinological evaluation of the stallion: a review. Acta Vet Brno 69: 247-259.
Kao SH, Chao HT, Wei YH. 1995. Mitochondrial deoxyribonucleic acid 4977-bp deletion is associated with diminished fertility and motility of human sperm. Biol Reprod 52: 729–736.
Kao SH, Chao HT, Wei YH. 1998. Multiple deletion of mitochondrial DNA are associated with the decline of motility and fertility of human spermatozoa. Mol Hum Reprod 4: 657–666.
Kretser DM, Baker HW. 1999. Infertility in men: recent advances and continuing controversies. J Clin Endocrinol Metab 84(5)3443-3450
Spiropoulos J, Turnbull DM, Chinnery PF. 2002. Can mitochonderial DNA mutations cause sperm dysfunction? Mol Hum Reprod 8: 719-21.
World Health Organization. 1999. Laboratory manual for the examination of human semen and semen- cervical mucus interaction, 4th ed. Cambridge, UK7C Ambridge University Press, 4–23.
Zhou DX, Wang HX, Zhang J, Gao XL, Zhao WB. 2010. Di-n-butylphthalate (DBP) exposure induces oxidative damage in testes of adult rats. Syst Biol Reprod Med 56: 413–9.