Gene mutations impede oocyte maturation, fertilization, and early embryonic development.

Autor: Fei CF; Institute of Reproductive Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China., Zhou LQ; Institute of Reproductive Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Jazyk: angličtina
Zdroj: BioEssays : news and reviews in molecular, cellular and developmental biology [Bioessays] 2022 Oct; Vol. 44 (10), pp. e2200007. Date of Electronic Publication: 2022 Jul 28.
DOI: 10.1002/bies.202200007
Abstrakt: Reproductive diseases are a long-standing problem and have become more common in the world. Currently, 15% of the world's population suffers from infertility, and half of them are women. Maturation of oocytes, successful fertilization, and high-quality embryos are prerequisites for pregnancy. With the development of assisted reproductive technology and advanced genetic assays, we have found that infertility in many young female patients is caused by mutations in various developmental regulators. These pathogenic factors may result in impediment of oocyte maturation, failure of fertilization or early embryonic development arrest. In this review, we categorize these clinically-identified, mutated genetic factors by their molecular characteristics: nuclear factors (PALT2, TRIP13, WEE2, TBPL2, REC114, MEI1 and CDC20), cytoplasmic factors (TLE6, PADI6, NLRP2/5, FBXO43, MOS and BTG4), a factor unique to primates (TUBB8), cell membrane factor (PANX1), and zona pellucida factors (ZP1-3). We compared discrepancies observed in phenotypes between human and mouse models to provide clues for clinical diagnosis and treatment of related reproductive diseases.
(© 2022 Wiley Periodicals LLC.)
Databáze: MEDLINE
Externí odkaz: