Open Access
Journal of Assisted Reproduction and Genetics, volume 32, issue 5, pages 807-815
The Nsun7 (A11337)-deletion mutation, causes reduction of its protein rate and associated with sperm motility defect in infertile men
Publication type: Journal Article
Publication date: 2015-02-22
Quartile SCImago
Q2
Quartile WOS
Q2
Impact factor: 3.1
ISSN: 10580468
PubMed ID:
25702163
General Medicine
Genetics
Developmental Biology
Reproductive Medicine
Genetics (clinical)
Obstetrics and Gynecology
Abstract
PurposeRecent studies have shown that genetic abnormalities may be responsible for most unknown cases of male infertility. Human Nsun7 gene, which is located on chromosome4, has a role in sperm motility by encoding the putative methyltransferase Nsun7 protein. The aim of the present study was to investigate the mutations of exon4 in the Nsun7 gene, which is associated with sperm motility defect.MethodsSemen samples including those of fertile normospermic (normal), infertile oligospermic (with normal sperm motility), and infertile asthenospermic (with reduced sperm motility) men were collected from the Omid and Fatemezahra IVF centres (Babol, Iran). These samples were then analysed on the basis of World Health Organization guidelines using the general phenol–chloroform DNA extraction method. Exon4 was amplified using Sun-F/Sun-R primers. Samples from asthenospermic men, which showed different patterns of movement on single-strand conformation polymorphism compared with normal and oligospermic samples, were identified and subjected to sequencing for further identification of possible mutations.ResultsAnalysis of extracted sperm proteins showed that the rate of Nsun7 decreased. Likewise, direct sequencing of PCR products, along with their analysis, confirmed the deletion mutation of adenine in location 11337 of the Nsun7 gene in asthenospermic men. Comparison of normal and mutant protein structures of Nsun7 indicated that the A11337-deletion of the exon4 resulted in the valine residues-157 with GTA-codon in normospermic replaced with TAG-early stop codon in asthenospermic samples, causing an abortive protein product with amino acid sequence shorter than normal. The secondary structure of the protein, the protein folding, and ligand binding sites were changed, indicating the impairment of the protein function.ConclusionsBecause the Nsun7 gene products have a role in sperm motility, it will lead to impairment in the activity of the protein and motility of sperm flagella as well as male infertility if a mutation occurs in this gene.
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Khosronezhad N., Hosseinzadeh Colagar A., Mortazavi S. M. The Nsun7 (A11337)-deletion mutation, causes reduction of its protein rate and associated with sperm motility defect in infertile men // Journal of Assisted Reproduction and Genetics. 2015. Vol. 32. No. 5. pp. 807-815.
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Khosronezhad N., Hosseinzadeh Colagar A., Mortazavi S. M. The Nsun7 (A11337)-deletion mutation, causes reduction of its protein rate and associated with sperm motility defect in infertile men // Journal of Assisted Reproduction and Genetics. 2015. Vol. 32. No. 5. pp. 807-815.
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TY - JOUR
DO - 10.1007/s10815-015-0443-0
UR - https://doi.org/10.1007%2Fs10815-015-0443-0
TI - The Nsun7 (A11337)-deletion mutation, causes reduction of its protein rate and associated with sperm motility defect in infertile men
T2 - Journal of Assisted Reproduction and Genetics
AU - Khosronezhad, Nahid
AU - Hosseinzadeh Colagar, Abasalt
AU - Mortazavi, Seyed Mohsen
PY - 2015
DA - 2015/02/22 00:00:00
PB - Springer Nature
SP - 807-815
IS - 5
VL - 32
PMID - 25702163
SN - 1058-0468
ER -
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@article{2015_Khosronezhad,
author = {Nahid Khosronezhad and Abasalt Hosseinzadeh Colagar and Seyed Mohsen Mortazavi},
title = {The Nsun7 (A11337)-deletion mutation, causes reduction of its protein rate and associated with sperm motility defect in infertile men},
journal = {Journal of Assisted Reproduction and Genetics},
year = {2015},
volume = {32},
publisher = {Springer Nature},
month = {feb},
url = {https://doi.org/10.1007%2Fs10815-015-0443-0},
number = {5},
pages = {807--815},
doi = {10.1007/s10815-015-0443-0}
}
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Khosronezhad, Nahid, et al. “The Nsun7 (A11337)-deletion mutation, causes reduction of its protein rate and associated with sperm motility defect in infertile men.” Journal of Assisted Reproduction and Genetics, vol. 32, no. 5, Feb. 2015, pp. 807-815. https://doi.org/10.1007%2Fs10815-015-0443-0.