DKC1
MIM.300126 Xq28
Dyskerin encoded by the DKC1 gene is a predominantly nucleolar protein essential for the formation of pseudouridine in RNA and the telomerase RNA subunit hTR.
Inherited mutations inactivating dyskerin cause dyskeratosis congenita, a syndrome with progeroid features characterised by skin defects and haematopoiesis failure, as well as cancer susceptibility.
Pathology
germline mutations in
- X-linked dyskeratosis congenita (MIM.305000)
- X-linked Hoyeraal-Hreidarsson syndrome (300240) associating severe combined immunodeficiency (SCID) and bone marrow failure
DKC1 is overexpressed in prostate cancers. (#19755982#)
- DKC1 upregulation in prostate cancers is common and likely to be necessary for extensive tumour growth.
- The phenotype of prostate carcinoma cell lines after dyskerin downregulation suggests that its most critical function is sustaining protein biosynthesis.
- Compromised function and overexpression of dyskerin can both contribute to cancer development.
References
DKC1 overexpression associated with prostate cancer progression. Sieron P, Hader C, Hatina J, Engers R, Wlazlinski A, Müller M, Schulz WA. Br J Cancer. 2009 Oct 20;101(8):1410-6. PMID: #19755982#