Home  |   Archive  |   Online Submission  |   News & Events  |   Subscribe  |   APFA  |   Society  |   Contact Us  |   中文版
Search   
 
Journal

Ahead of print
Authors' Accepted
    Manuscripts
new!
Current Issue
Archive
Acknowledgments
Special Issues
Browse by Category

Manuscript Submission

Online Submission
Online Review
Instruction for Authors
Instruction for Reviewers
English Corner new!

About AJA

About AJA
Editorial Board
Contact Us
News

Resources & Services

Advertisement
Subscription
Email alert
Proceedings
Reprints

Download area

Copyright licence
EndNote style file
Manuscript word template
Guidance for AJA figures
    preparation (in English)

Guidance for AJA figures
    preparation (in Chinese)

Proof-reading for the
    authors

AJA Club (in English)
AJA Club (in Chinese)

 
Abstract

Volume 24, Issue 6 (November 2022) 24, 607–614; 10.4103/aja2021115

DEFB126 polymorphisms and association with idiopathic asthenozoospermia in China

Jiao-Yu He1,2, Jian-Ying Peng1,2, Qiu-Fu Li1,2, Xiao-Li Lin1,2, Yan-Ru Cui1,2, Shi-Yu Ma1,2, Shi-Yun Fan1,2, Yi-Ran Liu1,2, Zhi-Lin Song1,2, Jun-Hang Deng1,2, Xia Wei1,2, Xian-Ping Ding1,2

1 Key Laboratory of Bio-Resources and Eco-Environment of Ministry of Education, College of Life Sciences, Sichuan University, Chengdu 610065, China
2 Chongqing Nanchuan Biotechnology Research Institute, Bio-resource Research and Utilization Joint Key Laboratory of Sichuan and Chongqing, Chongqing 400000, China

Correspondence: Dr. XP Ding (brainding@scu.edu.cn)

Date of Submission 26-Mar-2021 Date of Acceptance 23-Dec-2021 Date of Web Publication 05-Apr-2022

Abstract

Idiopathic asthenozoospermia, a common factor in male infertility, is characterized by altered sperm motility function in fresh ejaculate. Although the β-defensin 126 (DEFB126) protein is associated with asthenozoospermia, DEFB126 gene polymorphisms have not been extensively studied. Therefore, the association between DEFB126 gene polymorphisms and asthenozoospermia requires further investigation. Screening was performed by semen analysis, karyotype analysis, and Y microdeletion detection, and 102 fertile men and 106 men with asthenozoospermia in Chengdu, China, were selected for DEFB126 gene sequence analyses. Seven nucleotide mutations and two nucleotide deletions in the DEFB126 gene were detected. rs11467417 (317–318 del/del), rs11467497 (163–166 wt/del), c.152T>C, and c.227A>G were significantly different between the control and asthenozoospermia groups, likely representing high-risk genetic factors for asthenozoospermia among males. DEFB126 expression was not observed in sperm with rs11467497 homozygous deletion and was unstable in sperm with rs11467417 homozygous deletion. The rs11467497 four-nucleotide deletion leads to truncation of DEFB126 at the carboxy-terminus, and the rs11467417 binucleotide deletion produces a non-stop messenger RNA (mRNA). The above deletions may be responsible for male hypofertility and infertility by reducing DEFB126 affinity to sperm surfaces. Based on in silico analysis, the amino acids 51M and 76K are located in the highly conserved domain; c.152T>C (M51T) and c.227A>G (K76R) are predicted to be damaging and capable of changing alternative splice, structural and posttranslational modification sites of the RNA, as well as the secondary structure, structural stability, and hydrophobicity of the protein, suggesting that these mutations are associated with asthenozoospermia.

Keywords: β-defensin 126; idiopathic asthenozoospermia; in silico analysis; single-nucleotide polymorphisms

Full Text | PDF |

 
Browse:  99
 
Copyright 1999-2017  Shanghai Materia Medica, Shanghai Jiao Tong University.  All rights reserved