C57BL/6JCya-Rpusd4em1/Cya
Common Name:
Rpusd4-KO
Product ID:
S-KO-18495
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Rpusd4-KO
Strain ID
KOCMP-71989-Rpusd4-B6J-VB
Gene Name
Product ID
S-KO-18495
Gene Alias
2410001E19Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
9
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Rpusd4em1/Cya mice (Catalog S-KO-18495) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000034543
NCBI RefSeq
NM_028040.2
Target Region
Exon 3
Size of Effective Region
~2.0 kb
Detailed Document
Overview of Gene Research
Check the content of the review
RPUSD4, an uncharacterized mitochondrial putative pseudouridine synthase, is essential for mitochondrial function. It is part of a functional module regulating mitochondrial 16S rRNA and intra-mitochondrial translation, and is involved in RNA post-transcriptional modification within mitochondrial RNA granules (MRGs) [1,2,3,4]. It plays a role in pathways related to oxidative phosphorylation and mitochondrial protein synthesis, which are crucial for cell viability [1,3]. Genetic models, such as KO mouse models, could potentially be valuable in further exploring its function.
Depletion of RPUSD4 leads to a severe reduction in the steady-state level of the 16S mitochondrial (mt) rRNA, defects in mitoribosome large subunit biogenesis and mitochondrial translation. RPUSD4 binds 16S mt-rRNA, mt-tRNAMet, and mt-tRNAPhe, and is responsible for the pseudouridylation of the latter. It also plays a role in the pseudouridylation of a single residue in the 16S rRNA, which is essential for its stability and assembly into the mitochondrial ribosome [2,3]. In addition, in osteoarthritis, RPUSD4 was found to be expressed at low levels compared to healthy samples [5].
In conclusion, RPUSD4 is vital for mitochondrial gene expression through its role in RNA pseudouridylation, which impacts mitochondrial ribosome assembly, translation, and oxidative phosphorylation. Its dysregulation is associated with conditions like osteoarthritis. Studies using KO/CKO mouse models could further clarify its role in these biological processes and disease conditions, providing insights into potential therapeutic targets.
References:
1. Arroyo, Jason D, Jourdain, Alexis A, Calvo, Sarah E, Root, David E, Mootha, Vamsi K. 2016. A Genome-wide CRISPR Death Screen Identifies Genes Essential for Oxidative Phosphorylation. In Cell metabolism, 24, 875-885. doi:10.1016/j.cmet.2016.08.017. https://pubmed.ncbi.nlm.nih.gov/27667664/
2. Zaganelli, Sofia, Rebelo-Guiomar, Pedro, Maundrell, Kinsey, Minczuk, Michal, Martinou, Jean-Claude. 2017. The Pseudouridine Synthase RPUSD4 Is an Essential Component of Mitochondrial RNA Granules. In The Journal of biological chemistry, 292, 4519-4532. doi:10.1074/jbc.M116.771105. https://pubmed.ncbi.nlm.nih.gov/28082677/
3. Antonicka, Hana, Choquet, Karine, Lin, Zhen-Yuan, Kleinman, Claudia L, Shoubridge, Eric A. 2016. A pseudouridine synthase module is essential for mitochondrial protein synthesis and cell viability. In EMBO reports, 18, 28-38. doi:10.15252/embr.201643391. https://pubmed.ncbi.nlm.nih.gov/27974379/
4. Reyes, Aurelio, Favia, Paola, Vidoni, Sara, Petruzzella, Vittoria, Zeviani, Massimo. 2020. RCC1L (WBSCR16) isoforms coordinate mitochondrial ribosome assembly through their interaction with GTPases. In PLoS genetics, 16, e1008923. doi:10.1371/journal.pgen.1008923. https://pubmed.ncbi.nlm.nih.gov/32735630/
5. Chen, Ziyi, Wang, Wenjuan, Hua, Yinghui. 2023. Expression patterns of eight RNA-modified regulators correlating with immune infiltrates during the progression of osteoarthritis. In Frontiers in immunology, 14, 1019445. doi:10.3389/fimmu.2023.1019445. https://pubmed.ncbi.nlm.nih.gov/37006267/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen