Pus7l, a gene related to pseudouridine synthases, is likely involved in RNA pseudouridylation, an important post-transcriptional modification that impacts RNA function, stability, and folding [3,4]. Pseudouridylation participates in various cellular processes, including translation, splicing, and ribosome biogenesis, highlighting the biological importance of Pus7l. Genetic models, such as KO/CKO mouse models, could potentially be valuable in further understanding its functions.

In sepsis patients, an increase in the mean precursor intensity of peptides from proteins including Pus7l was associated with the disease, suggesting its possible role in the pathophysiology of sepsis [1]. In age-related hearing loss (ARHL), rare-variant associations with Pus7l were identified, indicating its involvement in the etiology of ARHL [2]. In colorectal cancer, differences in pseudouridine (Ψ) distribution correlated with the expression levels of Pus7l, suggesting its potential role in the disease [4]. A high-throughput BiFC screen identified an interaction between PUS7L and AHCY, which may be relevant for understanding protein-protein interaction networks [5].

In summary, Pus7l is likely involved in RNA pseudouridylation and is associated with important biological processes and disease conditions, such as sepsis, ARHL, and colorectal cancer. Findings from studies, though not from KO/CKO mouse models in the provided references, suggest its significance in these areas, and further in vivo studies using such models could potentially provide more insights into its functions and contributions to disease mechanisms.

References:

1. Thavarajah, Thanusi, Dos Santos, Claudia C, Slutsky, Arthur S, Romaschin, Alexander, Marshall, John G. 2020. The plasma peptides of sepsis. In Clinical proteomics, 17, 26. doi:10.1186/s12014-020-09288-5. https://pubmed.ncbi.nlm.nih.gov/32636717/

2. Cornejo-Sanchez, Diana M, Li, Guangyou, Fabiha, Tabassum, DeWan, Andrew T, Leal, Suzanne M. 2023. Rare-variant association analysis reveals known and new age-related hearing loss genes. In European journal of human genetics : EJHG, 31, 638-647. doi:10.1038/s41431-023-01302-2. https://pubmed.ncbi.nlm.nih.gov/36788145/

3. Jin, Zhipeng, Song, Mengying, Wang, Jianping, Liu, Huayuan, Shi, Guangjun. 2022. Integrative multiomics evaluation reveals the importance of pseudouridine synthases in hepatocellular carcinoma. In Frontiers in genetics, 13, 944681. doi:10.3389/fgene.2022.944681. https://pubmed.ncbi.nlm.nih.gov/36437949/

4. Li, Jiehua, Li, Xuanfei, Zhao, Xiaole, Han, Shaoqing, Zhou, Xiang. 2025. Unveiling the clinical significance of RNA pseudouridine in colorectal cancer. In Science China. Life sciences, , . doi:10.1007/s11427-024-2743-y. https://pubmed.ncbi.nlm.nih.gov/40189490/

5. Lepur, Adriana, Kovačević, Lucija, Belužić, Robert, Vugrek, Oliver. 2016. Combining Unique Multiplex Gateway Cloning and Bimolecular Fluorescence Complementation (BiFC) for High-Throughput Screening of Protein-Protein Interactions. In Journal of biomolecular screening, 21, 1100-1111. doi:10.1177/1087057116659438. https://pubmed.ncbi.nlm.nih.gov/27455993/