The Role of Mutant p63 in Female Fertility.

The Role of Mutant p63 in Female Fertility.
复制标题

突变体p63在女性生育中的作用。

DOI:
10.3390/ijms22168968
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发表时间:
2021-08-20
影响因子:
5.6
通讯作者:
Kim SY
Kim SY
中科院分区:
生物学2区
文献类型:
--
作者:
Luan Y;Xu P;Yu SY;Kim SY

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转录因子p63是p53家族成员之一,在调节母体生殖和基因组完整性以及表皮发育中发挥重要作用。TP63(人类)/Trp63(小鼠)产生多种异构体:TAp63和ΔNp63,它们根据两个不同的启动子具有不同的n端,p63a, p63b, p633g, p63δ和p63ε作为c端选择性剪接的产物。TAp63在雌性原始生殖细胞细胞核中表达,主要维持在未成熟卵泡的卵母细胞细胞核中。研究表明,TAp63是女性卵巢卵母细胞的基因组守护者,在卵母细胞损伤后决定卵母细胞命运中起着核心作用。近年来,越来越多的证据表明TP63突变与女性不孕症有关,包括孤立性卵巢早衰(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p63突变导致人类患者不孕的后果。
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. TP63 (human)/Trp63 (mouse) 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 TP63 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.
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