Novel WEE2 compound heterozygous mutations identified in patients with fertilization failure or poor fertilization

原核 生物 桑格测序 人类受精 复合杂合度 男科 分子生物学 体外受精 免疫荧光 突变 遗传学 基因 胚胎 合子 胚胎发生 医学 抗体
作者
Jiamin Jin,Xiaomei Tong,Yinli Zhang,Weijie Yang,Yerong Ma,Peipei Ren,Feng Zhou,Songying Zhang
出处
期刊:Journal of Assisted Reproduction and Genetics [Springer Science+Business Media]
卷期号:38 (11): 2861-2869 被引量:15
标识
DOI:10.1007/s10815-021-02285-z
摘要

Abstract Purpose To study associations between novel WEE2 mutations and patients with fertilization failure or poor fertilization. Methods Thirty-one Chinese patients who underwent treatment with assisted reproductive technology and suffered from repeated (at least two times) total fertilization failure (TFF) or a low fertilization rate were enrolled. Genomic DNA was extracted from patients for whole-exome sequencing. Suspicious mutations were validated by Sanger sequencing. WEE2 protein levels in oocytes from affected patients were examined by immunofluorescence. Disruptive effects of mutations on WEE2 protein stability, subcellular localization, and kinase function were analyzed through western blotting, immunofluorescence, and flow cytometry in HeLa cells. Results Three of thirty-one (9.6%) enrolled patients had six compound heterozygous mutations of the WEE2 gene, and three of them were reported here for the first time (c.115_116insT, c.756_758delTGA, and c.C1459T). Oocytes from affected patients showed decreased WEE2 immunofluorescence signals. In vitro experiments showed that the mutant WEE2 gene caused reduced WEE2 protein levels or cellular compartment translocation in HeLa cells, leading to decreased levels of the phosphorylated Cdc2 protein. Compared with the wild-type WEE2 protein, the mutant WEE2 proteins were also found to have different effects on the cell cycle. Conclusion Three novel compound heterozygous WEE2 variants were found in patients with pronucleus formation failure. This study provides new evidence that WEE2 mutations result in loss of function, which could result in fertilization failure.
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