dyskerin pseudouridine synthase 1
Última actualización 18 Aug 2020
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El DKC1 gene provides instructions for making a protein called dyskerin. This protein is involved in maintaining structures called telomeres, which are found at the ends of chromosomes. Telomeres help protect chromosomes from abnormally sticking together or breaking down (degrading).
Normal function
El DKC1 gene provides instructions for making a protein called dyskerin. This protein is involved in maintaining structures called telomeres, which are found at the ends of chromosomes. Telomeres help protect chromosomes from abnormally sticking together or breaking down (degrading).
In most cells, telomeres become progressively shorter as the cell divides. After a certain number of cell divisions, the telomeres become so short that they trigger the cell to stop dividing or to self-destruct (undergo apoptosis).
Telomeres are maintained by two important protein complexes, telomerase and shelterin. Telomerase counteracts the shortening of telomeres by adding small repeated segments of DNA to the ends of chromosomes each time the cell divides. One component of telomerase, called hTR, provides a template for creating the repeated sequence of DNA that telomerase adds to the ends of chromosomes. The dyskerin protein attaches (binds) to hTR and helps stabilize the telomerase complex.
In most types of cells, telomerase is either undetectable or active at very low levels. However, telomerase is highly active in cells that divide rapidly, such as cells that line the lungs and gastrointestinal tract, cells in bone marrow, and cells of the developing fetus. Telomerase allows these cells to divide many times without becoming damaged or undergoing apoptosis. Telomerase is also abnormally active in most cancer cells, which grow and divide without control or order.
Dyskerin is also involved in the production of ribosomal RNA (rRNA), a chemical cousin of DNA. Ribosomal RNA is required for assembling protein building blocks (amino acids) into functioning proteins.
Conditions referring to this gene or chromosome
Otros nombres
CBF5
CBF5 homolog
cbf5p homolog
DKC
DKC1_HUMAN
dyskeratosis congenita 1, dyskerin
dyskerin
FLJ97620
H/ACA ribonucleoprotein complex subunit 4
H/ACA ribonucleoprotein complex subunit 4 isoform 1
H/ACA ribonucleoprotein complex subunit 4 isoform 2
NAP57
NOLA4
nopp140-associated protein of 57 kDa
nucleolar protein family A member 4
nucleolar protein NAP57
snoRNP protein DKC1
XAP101
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Lecturas adicionales y referencias
- dyskerin pseudouridine synthase 1; MedlinePlus, National Library of Medicine.
- Ballew BJ, Savage SA. Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol. 2013 Jun;6(3):327-37. doi: 10.1586/ehm.13.23.
- Dokal I. Dyskeratosis congenita. Hematology Am Soc Hematol Educ Program. 2011;2011:480-6. doi: 10.1182/asheducation-2011.1.480.
- Gu B, Bessler M, Mason PJ. Dyskerin, telomerase and the DNA damage response. Cell Cycle. 2009 Jan 1;8(1):6-10. doi: 10.4161/cc.8.1.7265. Epub 2009 Jan 24.
- Kirwan M, Dokal I. Dyskeratosis congenita, stem cells and telomeres. Biochim Biophys Acta. 2009 Apr;1792(4):371-9. doi: 10.1016/j.bbadis.2009.01.010. Epub 2009 Feb 7.
- Kirwan M, Dokal I. Dyskeratosis congenita: a genetic disorder of many faces. Clin Genet. 2008 Feb;73(2):103-12. doi: 10.1111/j.1399-0004.2007.00923.x. Epub 2007 Nov 14.
- Montanaro L. Dyskerin and cancer: more than telomerase. The defect in mRNA translation helps in explaining how a proliferative defect leads to cancer. J Pathol. 2010 Dec;222(4):345-9. doi: 10.1002/path.2777.
- Nishio N, Kojima S. Recent progress in dyskeratosis congenita. Int J Hematol. 2010 Oct;92(3):419-24. doi: 10.1007/s12185-010-0695-5. Epub 2010 Oct 1.
- Rostamiani K, Klauck SM, Heiss N, Poustka A, Khaleghi M, Rosales R, Metzenberg AB. Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita. Blood Cells Mol Dis. 2010 Mar-Apr;44(2):88. doi: 10.1016/j.bcmd.2009.10.005. Epub 2009 Oct 29. No abstract available.
- Vulliamy TJ, Dokal I. Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex. Biochimie. 2008 Jan;90(1):122-30. doi: 10.1016/j.biochi.2007.07.017. Epub 2007 Jul 31.
- Walne AJ, Dokal I. Advances in the understanding of dyskeratosis congenita. Br J Haematol. 2009 Apr;145(2):164-72. doi: 10.1111/j.1365-2141.2009.07598.x. Epub 2009 Feb 4.
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