Guckelberger Philine, Haut Leah, Tornisiello Rosaria, Kretzmer Helene, Meissner Alexander
Max Planck Institute for Molecular Genetics, Berlin, Germany.
Department of Biology, Chemistry and Pharmacy, Freie Universität Berlin, Berlin, Germany.
Genome Biol. 2025 Jul 17;26(1):211. doi: 10.1186/s13059-025-03681-9.
DNA methylation regulation involves multi-layered chromatin interactions that require remodeling proteins like the helicase, lymphoid-specific (HELLS). Here, we generate HELLS and DNA methyltransferase 3A and B (DNMT3A/B) knockout human pluripotent stem cells and report telomere-to-telomere maps of whole genome bisulfite sequencing data combined with ATAC-sequencing. Disrupting HELLS induces a global loss of DNA methylation that is distinct from the DNMTs, in particular over peri/centromeric satellite repeats as defined in the telomere-to-telomere genome assembly. However, HELLS appears dispensable for local enhancer remodeling and the potential to differentiate into the three embryonic germ layers. Taken together, our results further clarify the genomic targets and role of HELLS in human cells.
DNA甲基化调控涉及多层染色质相互作用,这需要诸如解旋酶、淋巴细胞特异性(HELLS)等重塑蛋白。在此,我们生成了HELLS以及DNA甲基转移酶3A和B(DNMT3A/B)敲除的人类多能干细胞,并报告了全基因组亚硫酸氢盐测序数据与ATAC测序相结合的端粒到端粒图谱。破坏HELLS会导致DNA甲基化的整体缺失,这与DNA甲基转移酶不同,特别是在端粒到端粒基因组组装中定义的近着丝粒卫星重复序列上。然而,HELLS对于局部增强子重塑以及分化为三个胚胎胚层的潜力似乎是可有可无的。综上所述,我们的结果进一步阐明了HELLS在人类细胞中的基因组靶点和作用。