The Genetic Defects of N-DRC in Male Infertility.

IF 2.3 3区 医学 Q2 GENETICS & HEREDITY
Jiao Qin, Jinyu Wang, Dingming Li, Fuping Li
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引用次数: 0

Abstract

The nexin-dynein regulatory complex (N-DRC) is a large protein complex composed of at least 11 subunits (DRC1-DRC11) and plays a crucial role in ciliary and flagellar motility. It links adjacent doublets of microtubules (DMTs) between A and B microtubules, regulating dynein motor activity. Genetic defects in N-DRC subunits lead to primary ciliary dyskinesia (PCD) and abnormal flagellar motility. In recent years, an increasing number of genetic mutations in N-DRC subunits have been reported, associated with male infertility, characterized by multiple morphological abnormalities of the flagella (MMAF) and asthenozoospermia. Therefore, genetic diagnosis of N-DRC defects in male infertility is of significant clinical importance, impacting the reproductive health of patients and the well-being of their offspring. In this review, we summarize the gene mutations of N-DRC subunits reported in the literature concerning male infertility, analyze the phenotypes of affected patients, and outline the functions and mechanisms of N-DRC in sperm flagellar motility. Furthermore, we provide an overview of gene knockout (KO) mouse models of N-DRC and their associated phenotypes. Finally, we summarize the outcomes of assisted reproductive technology (ART) in both patients and KO mice, offering references for the diagnosis and treatment of clinical male infertility caused by N-DRC genetic factors.

男性不育症中N-DRC的遗传缺陷。
nein -dynein regulatory complex (N-DRC)是一种由至少11个亚基(DRC1-DRC11)组成的大型蛋白质复合物,在纤毛和鞭毛运动中起着至关重要的作用。它连接A微管和B微管之间相邻的双微管(dmt),调节动力蛋白运动活动。N-DRC亚基的遗传缺陷导致原发性纤毛运动障碍(PCD)和鞭毛运动异常。近年来,越来越多的N-DRC亚基基因突变被报道,与男性不育有关,其特征是鞭毛的多种形态异常(MMAF)和弱精子症。因此,男性不育N-DRC缺陷的遗传诊断具有重要的临床意义,影响患者的生殖健康及其后代的福祉。本文综述了文献报道的与男性不育有关的N-DRC亚基基因突变,分析了受影响患者的表型,概述了N-DRC在精子鞭毛运动中的功能和机制。此外,我们提供了N-DRC基因敲除(KO)小鼠模型及其相关表型的概述。最后,我们总结了辅助生殖技术(ART)在患者和KO小鼠中的效果,为临床N-DRC遗传因素导致的男性不育的诊断和治疗提供参考。
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来源期刊
Clinical Genetics
Clinical Genetics 医学-遗传学
CiteScore
6.50
自引率
0.00%
发文量
175
审稿时长
3-8 weeks
期刊介绍: Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
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