MOS mutation causes female infertility with large polar body oocytes

Abstract

The Moloney sarcoma oncogene (MOS) encodes a protein serine/threonine kinase and MOS is expressed at high levels in oocytes undergoing meiotic maturation. The MOS/MAPK pathway is normally required for the maintenance of microtubules and chromatin in a metaphasic state during the meiotic divisions. To determine the pathogenic genes in a female infertile patient due to large polar body oocytes, whole-exome sequencing was performed on the patient and available family members. We identified a novel homozygous missense mutation c.591T > G in MOS. Bioinformatics analysis showed that the mutation is harmful. These findings suggest that MOS mutation results in oocytes with a large polar body and poor embryonic development in patients. The MOS variant may regulate oocyte asymmetric division by MAPK/WAVE2/Arp2/3/actin signaling pathway. This will help to understand the comprehensive role of MOS in early human reproductive process and provide genetic markers for future genetic counseling for more individualized treatments.

摘要

莫洛尼肉瘤癌基因(MOS)编码蛋白丝氨酸/苏氨酸激酶, 在经历减数分裂成熟的卵母细胞中高水平地表达。MOS/MAPK途径通常需要在减数分裂过程中维持微管和染色质的变态状态需要MOS/MAPK途径。为了确定一位女性不孕患者因大极体卵母细胞而产生的致病基因。我们对该患者和现有的家庭成员进行了全外显子组测序。我们确定了一个新的同源错义突变c.591T > G的MOS。生物信息学分析表明, 该突变是有害的。这些发现表明, MOS突变导致患者的卵母细胞具有较大的极体, 胚胎发育不良。MOS变异可能通过以下方式调节卵母细胞的不对称性分裂MAPK/WAVE2/Arp2/3/actin信号通路。这将有助于了解MOS在人类早期生殖过程中的综合作用。这将有助于了解MOS在人类早期生殖过程中的全面作用, 并为未来的遗传咨询提供遗传标记, 以便进行更多的个性化治疗。更加个体化的治疗提供遗传标记。

Keywords:

• Infertility
• large polar body
• MOS
• meiosis

关键词:

• 不孕
• 大极体
• 莫洛尼肉瘤癌基因
• 减数分裂

Disclosure statement

No potential conflict of interest was reported by the authors.

Funding

The author(s) reported there is no funding associated with the work featured in this article.