Identification of a novel mutation in <i>PATL2</i> gene associated with the germinal vesicle arrest of oocytes.

ABSTRACT: The aim of this study was to investigate the genetic factors of a patient with germinal vesicle arrest in oocytes. Clinical data and blood samples were collected from the patient and some were amplified for high-throughput gene and Sanger sequencing. Several molecular and cellular experiments were performed to determine the association between the gene mutation and germinal vesicle arrest. Two mutation sites (c.1282G > T and c.1247C > A) were found in the PATL2 gene. The c.1282G > T mutation is associated with oocyte maturation abnormalities according to previous research, whereas c.1247C > A is a novel mutation of unknown clinical significance. In cell transfection experiments, qRT-PCR, immunofluorescence, and Western blotting revealed that the mRNA and protein levels of the PAT

SUBMITTER: Yu A 

PROVIDER: S-EPMC11625204 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature