Mannherz William, Crompton Andrew, Lampl Noah, Agarwal Suneet
Division of Hematology/Oncology and Stem Cell Program, Boston Children's Hospital, Boston, MA, USA.
Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
Nat Commun. 2025 Mar 27;16(1):3000. doi: 10.1038/s41467-025-58221-7.
Human telomere length is tightly regulated and associated with diseases at either extreme, but how these bounds are established remains incompletely understood. Here, we developed a rapid cell-based telomere synthesis assay and found that nucleoside salvage bidirectionally constrains human telomere length. Metabolism of deoxyguanosine (dG) or guanosine via purine nucleoside phosphorylase (PNP) and hypoxanthine-guanine phosphoribosyltransferase to form guanine ribonucleotides strongly inhibited telomerase and shortened telomeres. Conversely, salvage of dG to its nucleotide forms via deoxycytidine kinase drove potent telomerase activation, the extent of which was controlled by the dNTPase SAMHD1. Circumventing limits on salvage by expressing Drosophila melanogaster deoxynucleoside kinase or augmenting dG metabolism using the PNP inhibitor ulodesine robustly lengthened telomeres in human cells, including those from patients with lethal telomere diseases. Our results provide an updated paradigm for telomere length control, wherein telomerase reverse transcriptase activity is actively and bidirectionally constrained by the availability of its dNTP substrates, in a manner that may be therapeutically actionable.
人类端粒长度受到严格调控,在两个极端情况下都与疾病相关,但这些界限是如何确立的仍未完全清楚。在此,我们开发了一种基于细胞的快速端粒合成检测方法,发现核苷补救途径双向限制人类端粒长度。脱氧鸟苷(dG)或鸟苷通过嘌呤核苷磷酸化酶(PNP)和次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶代谢形成鸟嘌呤核糖核苷酸,强烈抑制端粒酶并缩短端粒。相反,通过脱氧胞苷激酶将dG挽救为其核苷酸形式可驱动有效的端粒酶激活,其激活程度由dNTP酶SAMHD1控制。通过表达黑腹果蝇脱氧核苷激酶规避补救限制,或使用PNP抑制剂乌洛德辛增强dG代谢,可显著延长人类细胞中的端粒,包括来自患有致死性端粒疾病患者的细胞。我们的结果为端粒长度控制提供了一个更新的范例,其中端粒酶逆转录酶活性受到其dNTP底物可用性的主动双向限制,这种方式可能具有治疗可行性。