Diskerin
H/ACA ribonukleoproteinski kompleks podjednica 4 je protein koji je kod ljudi kodiran DKC1 genom.[4][5][6]
Ovaj gen je član H/ACA snoRNPs familije gena (malih nukleolarnih ribonukleoproteina). snoRNP proteini učestvuju u raznim aspektima rRNK obrade i modifikacije. Oni se klasifikuju u dve familije: C/D i H/ACA. H/ACA snoRNP grupa takođe obuhvata NOLA1, 2 i 3 proteine. Protein kodiran ovim genom i tri NOLA proteina se lokalizuju u gustim fibrilarnim komponentama nukleola i u namotanim (Cajal) telima u nukleusu. Produkcija 18S rRNK i rRNK pseudouridilacija bivaju ometene ako se bilo koji od ova četiri proteina iscrpi. Protein kodiran ovim genom je srodan sa Saccharomyces cerevisiae Cbf5p i Drosophila melanogaster Nop60B proteinima.[6]
Klinički značaj
[уреди | уреди извор]Mutacije DKC1 gena su associrane sa Hoyeraal-Hreidarsson sindromom.[7]
Reference
[уреди | уреди извор]- ^ а б в GRCm38: Ensembl release 89: ENSMUSG00000031403 - Ensembl, May 2017
- ^ „Human PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ „Mouse PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I (1998). „X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions”. Nat Genet. 19 (1): 32—8. PMID 9590285. doi:10.1038/ng0598-32.
- ^ Hassock S, Vetrie D, Giannelli F (1999). „Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene”. Genomics. 55 (1): 21—7. PMID 9888995. doi:10.1006/geno.1998.5600.
- ^ а б „Entrez Gene: DKC1 dyskeratosis congenita 1, dyskerin”.
- ^ Lim, B. C.; Yoo, S. K.; Lee, S; Shin, J. Y.; Hwang, H; Chae, J. H.; Hwang, Y. S.; Seo, J. S.; Kim, J. I.; Kim, K. J. (2014). „Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing”. Gene. 546 (2): 425—9. PMID 24914498. doi:10.1016/j.gene.2014.06.011.
Literatura
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