Department of Epigenetics, Van Andel Institute, Grand Rapids, MI 49503, U.S.A.
Biochem Soc Trans. 2022 Dec 16;50(6):1875-1884. doi: 10.1042/BST20221015.
We recently discovered a novel biological process, the scheduled remodeling of Z-DNA structures in the developing fetal mouse male germ cells [Nat. Cell Biol. 24, 1141-1153]. This process affects purine/pyrimidine dinucleotide repeat (PPR) rich sequences, which can form stable left-handed Z-DNA structures. The protein that carries out this function is identified as ZBTB43, member of a large family of ZBTB proteins. Z-DNA remodeling by ZBTB43 not only coincides with global remodeling of DNA methylation and chromatin events in the male germ line, but it also is a prerequisite for de novo DNA methylation. When ZBTB43 changes DNA structure from the left-handed zigzag shaped Z-DNA to the regular smooth right-handed B-DNA, it also generates a suitable substrate for the de novo DNA methyltransferase, DNMT3A. By instructing de novo DNA methylation at PPRs in prospermatogonia, ZBTB43 safeguards epigenomic integrity of the male gamete. PPRs are fragile sequences, sites of large deletions and rearrangements in mammalian cells, and this fragility is thought to be due to Z-DNA structure formation rather than the sequence itself. This idea is now supported by the in vivo finding that DNA double strand breaks accumulate in mutant prospermatogonia which lack ZBTB43-dependent Z-DNA remodeling. If unrepaired, double stranded DNA breaks can lead to germ line mutations. Therefore, by preventing such breaks ZBTB43 is critical for guarding genome stability between generations. Here, we discuss the significance and implications of these findings in more detail.
我们最近发现了一个新的生物学过程,即在发育中的雄性小鼠生殖细胞中,Z-DNA 结构的计划重排[Nat. Cell Biol. 24, 1141-1153]。这个过程影响嘌呤/嘧啶二核苷酸重复(PPR)丰富的序列,这些序列可以形成稳定的左手 Z-DNA 结构。执行此功能的蛋白质被鉴定为 ZBTB43,它是 ZBTB 蛋白大家族的成员。ZBTB43 进行的 Z-DNA 重排不仅与雄性生殖系中 DNA 甲基化和染色质事件的全局重排一致,而且也是从头 DNA 甲基化的前提。当 ZBTB43 将 DNA 结构从左手锯齿状的 Z-DNA 改变为规则的光滑右手 B-DNA 时,它也为从头 DNA 甲基转移酶 DNMT3A 生成了合适的底物。通过在精原细胞中指导 PPR 上的从头 DNA 甲基化,ZBTB43 保护了雄性配子的表观基因组完整性。PPR 是脆弱的序列,是哺乳动物细胞中大片段缺失和重排的位点,这种脆弱性被认为是由于 Z-DNA 结构的形成而不是序列本身。这一观点现在得到了体内发现的支持,即在缺乏 ZBTB43 依赖性 Z-DNA 重排的突变精原细胞中,DNA 双链断裂会积累。如果未修复,双链 DNA 断裂会导致生殖系突变。因此,通过防止这种断裂,ZBTB43 对于在代际之间保护基因组稳定性至关重要。在这里,我们更详细地讨论了这些发现的意义和影响。