Title |
A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome
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Published in |
BMC Medical Genomics, June 2014
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DOI | 10.1186/1471-2350-15-68 |
Pubmed ID | |
Authors |
Yasutaka Ueda, Rodrigo T Calado, Anna Norberg, Sachiko Kajigaya, Göran Roos, Eva Hellstrom-Lindberg, Neal S Young |
Abstract |
Telomeres are repeated sequences (the hexanucleotide TTAGGG in vertebrates) located at chromosome ends of eukaryotes, protecting DNA from end joining or degradation. Telomeres become shorter with each cell cycle, but telomerase, a ribonucleoprotein complex, alleviates this attrition. The telomerase RNA component (TERC) is an essential element of telomerase, serving as a template for telomere elongation. The H/ACA domain of TERC is indispensable for telomere biogenesis. Mutations in the telomerase components allow accelerated telomere loss, resulting in various disease manifestations, including bone marrow failure. To date, this is the first detailed report of an H-box mutation in TERC that is related to human disease. |
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