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

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

SUBMITTER: Jin J 

PROVIDER: S-EPMC8608989 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature