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在AGTPBP1中有害的遗传变化导致了带有精子头和鞭毛缺陷的三精子

Yu-Hua Lin^1,2, Ya-Yun Wang³, Tsung-Hsuan Lai^4,5

¹Division of Urology, Department of Surgery, Cardinal Tien Hospital, New Taipei, Taiwan.

Journal of cellular and molecular medicine

|November 8, 2023

概括

在ATP/GTP结合蛋白1 (AGTPBP1) 中发生的基因突变会导致精,这是男性不孕的主要因素. 这项研究将AGTPBP1与精子形成缺陷和对生育至关重要的脱胺关联起来.

科学领域:

遗传学遗传学是一个
生殖生物学生殖生物学
分子生物学分子生物学

背景情况:

在全球范围内,男性不孕症影响10-15%的夫妇,其中精是显著的原因.
导致特拉类精子症的遗传因素在不同族群中可能有所不同.
识别新的遗传突变对于理解和诊断男性不孕症至关重要.

研究的目的:

通过使用全外体序列测序来识别与类精子症相关的遗传变异.
描述ATP/GTP结合蛋白1 (AGTPBP1) 在精子形成中的功能.
确定AGTPBP1在男性不孕症病原体中的作用.

主要方法:

整体外体序列测序被用来检测类精子症患者的遗传突变.
AGTPBP1的功能性特征,包括在人类精子和小鼠模型中的局部化研究.
在AGTPBP1突变病例和Agtpbp1-null小鼠中分析精子形态,管蛋白多胺和脱胺.

主要成果:

在两个患有严重精子缺陷的患者中,在AGTPBP1中发现了三种误解突变 (p.Glu423Asp,p.Pro631Leu,p.Arg811His).
在小鼠模型中,AGTPBP1在精子和环区域以及手结构内表现出特定的局部化.
Agtpbp1-null小鼠表现出精子的头部和尾部异常,改变了管蛋白质聚胺化,并降低了△-2管蛋白水平.

结论:

这项研究提供了第一个证据,将AGTPBP1中的遗传变化与人类的特拉多动物精子症联系起来.
AGTPBP1在精子形成中起着至关重要的作用,特别是精子发育所必需的脱胺化过程中.
了解AGTPBP1的功能为诊断和潜在地治疗由类精子症引起的男性不孕症开辟了新的途径.

关键词:

AGTPBP1BP1 的时间.遗传变化遗传变化男人的不孕不育症.动物精子症 (teratozoospermia) 是一个严重的疾病.整体外因子测序的测序

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