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HELQ 缺乏会损害原始生殖细胞样细胞的诱导。

HELQ deficiency impairs the induction of primordial germ cell-like cells.

机构信息

Maoming People's Hospital, China.

State Key Laboratory of Organ Failure Research, Department of Developmental Biology, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.

出版信息

FEBS Open Bio. 2024 Jul;14(7):1087-1100. doi: 10.1002/2211-5463.13810. Epub 2024 May 8.

DOI:10.1002/2211-5463.13810
PMID:38720471
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11216937/
Abstract

Helicase POLQ-like (HELQ) is a DNA helicase essential for the maintenance of genome stability. A recent study identified two HELQ missense mutations in some cases of infertile men. However, the functions of HELQ in the process of germline specification are not well known and whether its function is conserved between mouse and human remains unclear. Here, we revealed that Helq knockout (Helq) could significantly reduce the efficiency of mouse primordial germ cell-like cell (PGCLC) induction. In addition, Helq embryonic bodies exhibited a severe apoptotic phenotype on day 6 of mouse PGCLC induction. p53 inhibitor treatment could partially rescue the generation of mouse PGCLCs from Helq mutant mouse embryonic stem cells. Finally, the genetic ablation of HELQ could also significantly impede the induction of human PGCLCs. Collectively, our study sheds light on the involvement of HELQ in the induction of both mouse and human PGCLCs, providing new insights into the mechanisms underlying germline differentiation and the genetic studies of human fertility.

摘要

解旋酶 POLQ 样蛋白（HELQ）是维持基因组稳定性所必需的 DNA 解旋酶。最近的一项研究在一些不育男性中发现了两种 HELQ 错义突变。然而，HELQ 在生殖系特化过程中的功能尚不清楚，其在小鼠和人类之间的功能是否保守仍不清楚。在这里，我们揭示了 Helq 敲除（Helq）可显著降低小鼠原始生殖细胞样细胞（PGCLC）诱导的效率。此外，在小鼠 PGCLC 诱导的第 6 天，Helq 胚胎体表现出严重的凋亡表型。p53 抑制剂处理可部分挽救 Helq 突变型小鼠胚胎干细胞中 PGCLC 的生成。最后，HELQ 的基因缺失也可显著阻碍人 PGCLCs 的诱导。总之，我们的研究表明 HELQ 参与了小鼠和人 PGCLCs 的诱导，为生殖系分化的机制以及人类生育力的遗传研究提供了新的见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9ae/11216937/f7f10269c521/FEB4-14-1087-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9ae/11216937/5f5958a50f1e/FEB4-14-1087-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9ae/11216937/6e818c260786/FEB4-14-1087-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9ae/11216937/a7a314fb4258/FEB4-14-1087-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9ae/11216937/3761ac708f8f/FEB4-14-1087-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9ae/11216937/f7f10269c521/FEB4-14-1087-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9ae/11216937/5f5958a50f1e/FEB4-14-1087-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9ae/11216937/6e818c260786/FEB4-14-1087-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9ae/11216937/a7a314fb4258/FEB4-14-1087-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9ae/11216937/3761ac708f8f/FEB4-14-1087-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9ae/11216937/f7f10269c521/FEB4-14-1087-g003.jpg

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本文引用的文献

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DNA repair protein FANCD2 has both ubiquitination-dependent and ubiquitination-independent functions during germ cell development.在生殖细胞发育过程中，DNA 修复蛋白 FANCD2 具有依赖泛素化和不依赖泛素化的功能。
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