Department of Obstetrics and Gynecology, Olson Center for Women's Health, College of Medicine, University of Nebraska Medical Center, Omaha, NE 68198, USA.
Int J Mol Sci. 2021 Aug 20;22(16):8968. doi: 10.3390/ijms22168968.
The transcription factor p63, one of the p53 family members, plays an essential role in regulating maternal reproduction and genomic integrity as well as epidermal development. / produces multiple isoforms: TAp63 and ΔNp63, which possess a different N-terminus depending on two different promoters, and p63a, p63b, p63g, p63δ, and p63ε as products of alternative splicing at the C-terminus. TAp63 expression turns on in the nuclei of primordial germ cells in females and is maintained mainly in the oocyte nuclei of immature follicles. It has been established that TAp63 is the genomic guardian in oocytes of the female ovaries and plays a central role in determining the oocyte fate upon oocyte damage. Lately, there is increasing evidence that mutations are connected with female infertility, including isolated premature ovarian insufficiency (POI) and syndromic POI. Here, we review the biological functions of p63 in females and discuss the consequences of p63 mutations, which result in infertility in human patients.
转录因子 p63 是 p53 家族成员之一，在调节母性生殖和基因组完整性以及表皮发育方面发挥着重要作用。它产生多种异构体：TAp63 和 ΔNp63，它们的 N 端因两个不同的启动子而不同，而 p63a、p63b、p63g、p63δ 和 p63ε 则是 C 端选择性剪接的产物。TAp63 在雌性原始生殖细胞的核中表达，并主要在未成熟卵泡的卵母细胞核中维持。已经确定 TAp63 是雌性卵巢卵母细胞中的基因组守护者，在卵母细胞损伤时对卵母细胞命运起决定性作用。最近有越来越多的证据表明，p63 突变与女性不孕有关，包括孤立性早发性卵巢功能不全（POI）和综合征性 POI。在这里，我们回顾了 p63 在女性中的生物学功能，并讨论了导致人类患者不孕的 p63 突变的后果。
