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The Role of Mutant p63 in Female Fertility

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 t...

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Autores principales: Luan, Yi, Xu, Pauline, Yu, Seok-Yeong, Kim, So-Youn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8396438/
https://www.ncbi.nlm.nih.gov/pubmed/34445673
http://dx.doi.org/10.3390/ijms22168968
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author Luan, Yi
Xu, Pauline
Yu, Seok-Yeong
Kim, So-Youn
author_facet Luan, Yi
Xu, Pauline
Yu, Seok-Yeong
Kim, So-Youn
author_sort Luan, Yi
collection PubMed
description 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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spelling pubmed-83964382021-08-28 The Role of Mutant p63 in Female Fertility Luan, Yi Xu, Pauline Yu, Seok-Yeong Kim, So-Youn Int J Mol Sci Review 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. MDPI 2021-08-20 /pmc/articles/PMC8396438/ /pubmed/34445673 http://dx.doi.org/10.3390/ijms22168968 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Luan, Yi
Xu, Pauline
Yu, Seok-Yeong
Kim, So-Youn
The Role of Mutant p63 in Female Fertility
title The Role of Mutant p63 in Female Fertility
title_full The Role of Mutant p63 in Female Fertility
title_fullStr The Role of Mutant p63 in Female Fertility
title_full_unstemmed The Role of Mutant p63 in Female Fertility
title_short The Role of Mutant p63 in Female Fertility
title_sort role of mutant p63 in female fertility
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8396438/
https://www.ncbi.nlm.nih.gov/pubmed/34445673
http://dx.doi.org/10.3390/ijms22168968
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