PUS7, or Pseudouridine Synthase 7, is an enzyme crucial for pseudouridylation, the most frequent epitranscriptomic modification. It impacts various biological functions by modifying RNAs, influencing processes like translation and gene expression [1,2,4,6].

In glioblastoma, high PUS7 expression is associated with poor survival, and its expression and catalytic activity are required for glioblastoma stem cell tumorigenesis. PUS7-mediated tRNA pseudouridylation controls codon-specific translation of key GSC regulators, and chemical inhibitors of PUS7 can suppress tumorigenesis [1].

In gastric cancer, PUS7 is reduced in tumor tissues compared to non-tumor tissues. It inhibits gastric cancer cell proliferation and tumour growth by enhancing the translation efficiency of ALKBH3 mRNA through pseudouridylation [2].

In colorectal cancer, PUS7 is highly expressed, promoting cell proliferation by stabilizing SIRT1 to activate the Wnt/β -catenin pathway, and its knockdown suppresses cell proliferation in vitro and tumorigenicity in vivo [3].

In patients with loss-of-function variants in PUS7, a neurodevelopmental phenotype including autism spectrum disorder is observed, along with upregulated protein synthesis in patient fibroblasts [5].

Overall, PUS7 plays a significant role in multiple biological processes and diseases. Its function in translation regulation and disease-related phenotypes, as revealed through studies on gene-modified models and patient samples, highlights its potential as a therapeutic target in cancers like glioblastoma, gastric cancer, and colorectal cancer, as well as its importance in understanding neurodevelopmental disorders [1-3,6].