| First Author | Mason PJ | Year | 2003 |
| Journal | Bioessays | Volume | 25 |
| Issue | 2 | Pages | 126-33 |
| PubMed ID | 12539238 | Mgi Jnum | J:81661 |
| Mgi Id | MGI:2449802 | Doi | 10.1002/bies.10229 |
| Citation | Mason PJ (2003) Stem cells, telomerase and dyskeratosis congenita. Bioessays 25(2):126-33 |
| abstractText | Dyskeratosis congenita is a rare skin and bone marrow failure syndrome caused by defective telomere maintenance in stem cells. The major X-linked form of the disease is due to mutations in a nucleolar protein, dyskerin, that is part of small nucleolar ribonucleoprotein particles that are involved in processing ribosomal RNA. It is also found in the telomerase complex, pointing to an unexpected link between these two processes. An autosomal dominant form is due to mutations in the RNA component of telomerase (hTR). Patients with this form of the disease are more severely affected in later generations that carry the mutations, possibly due to the inheritance of shortened telomeres, disguising the inherited nature of the disease in some cases classified as aplastic anemia. Because of the importance of telomerase in tumour formation and aging, study of this disease may provide important clues about these fundamental processes. BioEssays 25:126-133, 2003. |
