Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility

In this study, we identified a homozygous missense mutation (c.536G>A, p.R179Q) and a compound heterozygous mutation (c.793C>T, p.R265W; c.1201C>T, p.Q401*) in PABPC1L in two unrelated infertile females characterized by recurrent oocyte maturation abnormalities and early embryonic arrest. These variants resulted in nonfunctional PABPC1L protein and were associated with impaired chromatin configuration and transcriptional silencing in GV oocytes. Moreover, the binding capacity of mutant PABPC1L to mRNAs related to oocyte maturation and early embryonic development was decreased significantly. Our findings revealed novel PABPC1L mutations causing oocyte maturation abnormalities and early embryonic arrest, confirming the essential role of PABPC1L in human female fertility.PMID:37723834 | DOI:10.1111/cge.14425

Source: Clinical Genetics - September 19, 2023 Category: Genetics & Stem Cells Authors: Xiang Wang Ruixi Zhou Xiaowei Lu Siyu Dai Mohan Liu Chuan Jiang Yanting Yang Ying Shen Yan Wang Hanmin Liu Source Type: research