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.
最长约 10秒,即可获得该文献文件

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
PDF的下载单位、IP信息已删除 (2025-6-4)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
miki完成签到,获得积分10
刚刚
刚刚
xgg发布了新的文献求助10
刚刚
任性醉山发布了新的文献求助10
1秒前
范1完成签到,获得积分10
2秒前
烤乳朱完成签到,获得积分10
3秒前
chen完成签到,获得积分10
3秒前
俞跃发布了新的文献求助10
3秒前
153266916完成签到 ,获得积分10
4秒前
Yaaaaaa发布了新的文献求助10
4秒前
小猪咪完成签到 ,获得积分10
5秒前
酷波er应助十月采纳,获得30
5秒前
Aom完成签到,获得积分10
7秒前
健忘凌珍完成签到,获得积分10
7秒前
yhtu完成签到,获得积分10
8秒前
ZBZM完成签到,获得积分10
9秒前
爱岗敬业完成签到,获得积分10
11秒前
11秒前
浮游应助Aom采纳,获得10
11秒前
12秒前
星睿发布了新的文献求助10
14秒前
虚拟的落雁完成签到 ,获得积分10
14秒前
汉堡包应助搞怪莫茗采纳,获得10
16秒前
眼睛大怜容完成签到 ,获得积分10
17秒前
彳亍发布了新的文献求助10
19秒前
量子星尘发布了新的文献求助10
20秒前
开开开发布了新的文献求助20
22秒前
22秒前
24秒前
稳重的煎蛋应助冷静戴采纳,获得50
25秒前
姗姗er发布了新的文献求助20
27秒前
inches完成签到 ,获得积分10
27秒前
田様应助yueyueyahoo采纳,获得10
28秒前
28秒前
111发布了新的文献求助10
28秒前
充电宝应助杜婕采纳,获得10
28秒前
研友_VZG7GZ应助缥缈蓉采纳,获得10
29秒前
慕青应助欢呼的过客采纳,获得10
29秒前
赫若魔应助周晓睿采纳,获得10
30秒前
Lucas应助Yxy2021采纳,获得30
31秒前
高分求助中
(应助此贴封号)【重要!!请各用户(尤其是新用户)详细阅读】【科研通的精品贴汇总】 10000
Разработка технологических основ обеспечения качества сборки высокоточных узлов газотурбинных двигателей,2000 1000
Optimization and Learning via Stochastic Gradient Search 500
Nuclear Fuel Behaviour under RIA Conditions 500
Life: The Science of Biology Digital Update 400
Why America Can't Retrench (And How it Might) 400
Higher taxa of Basidiomycetes 300
热门求助领域 (近24小时)
化学 材料科学 医学 生物 工程类 有机化学 生物化学 物理 纳米技术 计算机科学 内科学 化学工程 复合材料 物理化学 基因 催化作用 遗传学 冶金 电极 光电子学
热门帖子
关注 科研通微信公众号,转发送积分 4687483
求助须知:如何正确求助?哪些是违规求助? 4060765
关于积分的说明 12554796
捐赠科研通 3758036
什么是DOI,文献DOI怎么找? 2075407
邀请新用户注册赠送积分活动 1104301
科研通“疑难数据库(出版商)”最低求助积分说明 983366