Pus7, known as pseudouridine synthase 7, is a crucial enzyme responsible for the pseudouridylation of RNA, an important post-transcriptional modification. Pseudouridine is the most frequent epitranscriptomic modification, and Pus7-mediated pseudouridylation impacts various biological functions such as translational control, which is vital for processes like stem cell commitment during embryogenesis [4].

In glioblastoma, high Pus7 expression is associated with worse patient survival, and its expression and catalytic activity are required for glioblastoma stem cell tumorigenesis. Targeting Pus7 can suppress tRNA pseudouridylation and tumorigenesis, extending the lifespan of tumor-bearing mice [1]. In gastric cancer, Pus7 is reduced in tumor tissues, and its catalytic activity inhibits cell proliferation and tumor growth by enhancing the translation efficiency of ALKBH3 mRNA through pseudouridylation [2]. In colorectal cancer, Pus7 promotes cell proliferation by directly stabilizing SIRT1 to activate the Wnt/β-catenin pathway, and its overexpression, facilitated by HSP90, promotes metastasis via regulating LASP1 abundance [3,6]. Also, Pus7 deficiency in human patients causes a neurodevelopmental phenotype due to dysregulated protein translation [5].

In conclusion, Pus7 plays essential roles in various biological processes and diseases. Through functional studies, especially those using gene-related models (although specific KO/CKO mouse models are not detailed in the provided references), it has been revealed that Pus7 is involved in tumorigenesis of multiple cancers and neurodevelopmental processes. Understanding Pus7's functions provides potential therapeutic targets for these disease areas.