Recombinant Mouse H/ACA ribonucleoprotein complex subunit 4 (Dkc1)

1. Mouse embryonic fibroblasts cells with no pseudouridylation activity in H/ACA snoRNPs due to lack of Dkc1, can produce mature ribosomes, however, the ribosomes are very unstable and cell growth and division is very slow. PMID: 23726835
2. mTR stability and telomerase activity produced by the Dkc1 A353V mutation in dyskeratosis congenita are rescued by a peptide from the dyskerin TruB domain. PMID: 22855157
3. A mouse small nucleolar snoRNA microarray was used to monitor changes in abundance of snoRNAs after ablation of dyskerin, an H/ACA snoRNA protein component, from mouse liver, which causes a decrease in ribosome production. PMID: 20423331
4. hepatocytes can survive without dyskerin but the role of dyskerin in RNA modification is essential for cellular proliferation. PMID: 19917719
5. Female mice carrying the deletion in the paternally derived Dkc1 show extreme skewing of X-inactivation with the wild type X-chromosome active in all cells. PMID: 12400016
6. results establish a role of dyskerin for deregulated rRNA modification in tumor formation and disease pathogenesis in dyskeratosis congenita PMID: 12522253
7. Data show that point mutations in dyskerin may affect both the telomerase and pseudouridylation pathways and the extent to which these functions are altered can vary for different mutations. PMID: 15240872
8. specific defect in IRES (internal ribosome entry site)-dependent translation in Dkc1 mutant mice; defect results in impaired translation of mRNAs containing IRES elements, including those encoding p27Kip1), Bcl-xL and XIAP PMID: 16690864
9. dyskerin mutations cause slow growth independently of telomere shortening and this slow growth is the result of the induction of DNA damage. Thus, dyskerin interacts with telomerase and affects telomere maintenance independently of telomere length. PMID: 18626023

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KEGG: mmu:245474

STRING: 10090.ENSMUSP00000033776

UniGene: Mm.291062