| Dyskeratosis congenita as a disorder of telomere maintenance. | |
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MedLine Citation:
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PMID: 21745483 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Since 1998, there have been great advances in our understanding of the pathogenesis of dyskeratosis congenita (DC), a rare inherited bone marrow failure and cancer predisposition syndrome with prominent mucocutaneous abnormalities and features of premature aging. DC is now characterized molecularly by the presence of short age-adjusted telomeres. Mutations in seven genes have been unequivocally associated with DC, each with a role in telomere length maintenance. These observations, combined with knowledge that progressive telomere shortening can impose a proliferative barrier on dividing cells and contribute to chromosome instability, have led to the understanding that extreme telomere shortening drives the clinical features of DC. However, some of the genes implicated in DC encode proteins that are also components of H/ACA-ribonucleoprotein enzymes, which are responsible for the post-translational modification of ribosomal and spliceosomal RNAs, raising the question whether alterations in these activities play a role in the pathogenesis of DC. In addition, recent reports suggest that some cases of DC may not be characterized by short age-adjusted telomeres. This review will highlight our current knowledge of the telomere length defects in DC and the factors involved in its development. |
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Authors:
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Nya D Nelson; Alison A Bertuch |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-7-2 |
Journal Detail:
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Title: Mutation research Volume: - ISSN: 0027-5107 ISO Abbreviation: - Publication Date: 2011 Jul |
Date Detail:
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Created Date: 2011-7-12 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0400763 Medline TA: Mutat Res Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011. Published by Elsevier B.V. |
Affiliation:
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Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, 1102 Bates, FC 1200, Houston, TX 77030, United States. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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