卵子成熟异常引起卵子成熟障碍，受精或胚胎发育失败，最终导致女性不孕及反复试管婴儿失败。2017年申请人发现PATL2的隐性突变致人类卵子GV（germinal vesical）期阻滞及卵子受精和早期胚胎发育异常，但PATL2在卵子成熟过程中的生理功能大多未知，其突变致疾病发生的病理机制亦不明确。.申请人前期研究发现Patl2敲除小鼠不孕，且敲除鼠GV期卵子的mRNA丰度大幅度下降，卵子中mRNA的翻译异常激活。结果提示：Patl2在卵子成熟过程中可能调控母源性mRNA的翻译和降解。因此，本项目拟结合体内和体外实验，探索Patl2在母源性mRNA的翻译和降解过程中的作用，揭示Patl2参与的分子通路和调控机制。该研究将明确Patl2在卵子成熟过程中的生理功能，阐明PATL2突变致卵子成熟障碍和胚胎异常的分子机制，为卵子母源性mRNA的翻译和降解机制提供新认识，为相关患者的临床干预策略奠定基础

Abnormal oocyte maturation can lead to oocyte maturation arrest, fertilization or subsequent failure of embryo development, leading to infertility. In 2017, genetic studies have fully confirmed that homozygous or compound heterozygous mutations of PATL2 can lead to germinal vesical arrest and abnormal oocyte fertilization and early embryo development, but the physiological functions have been largely unknown, and the pathological mechanism of PATL2 mutation is also unclear. Our study found that Patl2 knockout mice completely infertility, and in the GV stage oocytes of Patl2 knockout mice, the mRNA abundance decreased, and the translation of mRNA was abnormal activation, this indicated that Patl2 play an important role in the regulation of maternal mRNA translation and degradation. Therefore, this project aims to combine in vivo and in vitro experiments to explore the translation and degradation process of Patl2 regulating maternal mRNA, and to reveal the molecular pathways and mechanisms involved in Patl2. This study can help us interpret the physiological function of Patl2 in oocyte maturation process, it is also helpful to clarify the molecular mechanism of PATL2 mutations leading to human oocyte maturation arrest and embryo development arrest, which was important for a better understanding of the mechanism of translation and degradation of maternal mRNA and clinical interventions.