Pudp-KO Mouse

PUDP, Pseudouridine 5'-phosphatase, is a gene that has been implicated in multiple biological aspects. While its exact function is still being explored, studies suggest it may be involved in cellular processes relevant to cancer development and progression. It has been associated with pathways related to the tumor microenvironment, potentially influencing cancer cell behavior and immune cell interactions [2].

In hepatocellular carcinoma (HCC), bioinformatics analysis combined with experiments predicted PUDP as a potential oncogene. High expression of PUDP was associated with poor prognosis and low response to immunotherapy in HCC patients. There were also positive correlations between PUDP and tumor immune cell infiltration, biomarkers of immune cells, and immune checkpoint expression, especially with tumor-promoting immune cells [2].

In addition, a genome-wide association study on treatment-resistant schizophrenia indicated that a variant allele might be involved in the regulation of PUDP, which may play a role in striatal neurotransmission and intellectual disability [3]. Also, deletions involving the PUDP gene have been identified in X-linked ichthyosis and some contiguous gene syndromes [1,4].

In summary, PUDP appears to be involved in important biological processes related to cancer prognosis and response to immunotherapy, as well as potentially having implications in neurological-related functions. Its role in X-linked ichthyosis and contiguous gene syndromes further highlights its significance in genetic-related diseases. Understanding PUDP through model-based research can provide valuable insights into disease mechanisms and potential treatment strategies.

References:

1. Park, Joonhong, Cho, Yong Gon, Kim, Jin Kyu, Kim, Hyun Ho. 2023. STS and PUDP Deletion Identified by Targeted Panel Sequencing with CNV Analysis in X-Linked Ichthyosis: A Case Report and Literature Review. In Genes, 14, . doi:10.3390/genes14101925. https://pubmed.ncbi.nlm.nih.gov/37895274/

2. Yu, Jiahao, Zhang, Weirui, Ding, Dawei, Wang, Jingbo, Han, Ying. 2022. Bioinformatics Analysis Combined With Experiments Predicts PUDP as a Potential Prognostic Biomarker for Hepatocellular Carcinoma Through Its Interaction With Tumor Microenvironment. In Frontiers in oncology, 12, 830174. doi:10.3389/fonc.2022.830174. https://pubmed.ncbi.nlm.nih.gov/35350563/

3. Lenk, Hasan Çağın, Koch, Elise, O'Connell, Kevin S, Andreassen, Ole A, Molden, Espen. 2024. Genome-wide association analysis of treatment resistant schizophrenia for variant discovery and polygenic assessment. In Human genomics, 18, 108. doi:10.1186/s40246-024-00673-x. https://pubmed.ncbi.nlm.nih.gov/39334510/

4. Ma, Wanlu, Mao, Jiangfeng, Wang, Xi, Nie, Min, Wu, Xueyan. 2020. Novel Microdeletion in the X Chromosome Leads to Kallmann Syndrome, Ichthyosis, Obesity, and Strabismus. In Frontiers in genetics, 11, 596. doi:10.3389/fgene.2020.00596. https://pubmed.ncbi.nlm.nih.gov/32670353/