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一种新型的重组蛋白C12ORF40/REDIC1是介质交叉形成所需的

Suixing Fan¹, Yuewen Wang¹, Hanwei Jiang¹

¹Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Research Center for Physical Sciences at the Microscale, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, Anhui, China.

|August 23, 2023

概括

一种新型蛋白质C12ORF40/REDIC1对于哺乳动物中介交叉形成至关重要. 它的缺乏会导致不孕症,因为它会在变化过程中损害重组和染色体分离.

科学领域:

遗传学遗传学是一个
细胞生物学细胞生物学
生殖生物学生殖生物学

背景情况:

介质交叉对于介质过程中精确的染色体分离至关重要.
基础交叉形成的精确分子机制仍然不完全理解.
交叉保证对于成功繁殖至关重要.

研究的目的:

为了确定参与哺乳动物介质交叉形成的新型蛋白质.
为了阐明C12ORF40/REDIC1在介质重组途径中的功能.
研究由C12ORF40/REDIC1突变引起的不孕症的分子基础.

主要方法:

在不孕症患者中确定C12orf40中的同卵性框架转移突变.
产生和分析Redic1敲入鼠标模型.
光免疫染色小鼠精子细胞以可视化蛋白质定位.
生物化学测试以评估蛋白质-DNA相互作用.

主要成果:

一种新型蛋白质C12ORF40/REDIC1对于哺乳动物中介性交叉形成至关重要.
在C12ORF40/REDIC1中发生的突变会导致人类和小鼠因介质停止而导致不孕.
REDIC1定位到交叉点,并与分支DNA中间体相互作用.
缺乏REDIC1会减少重组中间体的数量 (MSH4,TEX11).

结论:

C12ORF40/REDIC1在稳定介质重组中间体方面发挥着至关重要的作用.
损坏的REDIC1功能会破坏交叉形成,导致介质错误和不孕.
REDIC1代表了诊断和治疗不孕症的潜在分子标.

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