Telomeres and disease
The telomeres of most eukaryotes are characterized by guanine-rich repeats synthesized by the reverse transcriptase telomerase. Complete loss of telomerase is tolerated for several generations in most species, but modestly reduced telomerase levels in human beings are implicated in bone marrow failu...
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| Format: | Online |
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Nature Publishing Group
2009
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2722246/ |
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pubmed-27222462009-08-06 Telomeres and disease Lansdorp, Peter M Focus Review The telomeres of most eukaryotes are characterized by guanine-rich repeats synthesized by the reverse transcriptase telomerase. Complete loss of telomerase is tolerated for several generations in most species, but modestly reduced telomerase levels in human beings are implicated in bone marrow failure, pulmonary fibrosis and a spectrum of other diseases including cancer. Differences in telomerase deficiency phenotypes between species most likely reflect a tumour suppressor function of telomeres in long-lived mammals that does not exist as such in short-lived organisms. Another puzzle provided by current observations is that family members with the same genetic defect, haplo-insufficiency for one of the telomerase genes, can present with widely different diseases. Here, the crucial role of telomeres and telomerase in human (stem cell) biology is discussed from a Darwinian perspective. It is proposed that the variable phenotype and penetrance of heritable human telomerase deficiencies result from additional environmental, genetic and stochastic factors or combinations thereof. Nature Publishing Group 2009-09-02 2009-07-23 /pmc/articles/PMC2722246/ /pubmed/19629041 http://dx.doi.org/10.1038/emboj.2009.172 Text en Copyright © 2009, European Molecular Biology Organization http://creativecommons.org/licenses/by-nc-nd/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits distribution, and reproduction in any medium, provided the original author and source are credited. This license does not permit commercial exploitation or the creation of derivative works without specific permission. |
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Open Access Journal |
| institution_category |
Foreign Institution |
| institution |
US National Center for Biotechnology Information |
| building |
NCBI PubMed |
| collection |
Online Access |
| language |
English |
| format |
Online |
| author |
Lansdorp, Peter M |
| spellingShingle |
Lansdorp, Peter M Telomeres and disease |
| author_facet |
Lansdorp, Peter M |
| author_sort |
Lansdorp, Peter M |
| title |
Telomeres and disease |
| title_short |
Telomeres and disease |
| title_full |
Telomeres and disease |
| title_fullStr |
Telomeres and disease |
| title_full_unstemmed |
Telomeres and disease |
| title_sort |
telomeres and disease |
| description |
The telomeres of most eukaryotes are characterized by guanine-rich repeats synthesized by the reverse transcriptase telomerase. Complete loss of telomerase is tolerated for several generations in most species, but modestly reduced telomerase levels in human beings are implicated in bone marrow failure, pulmonary fibrosis and a spectrum of other diseases including cancer. Differences in telomerase deficiency phenotypes between species most likely reflect a tumour suppressor function of telomeres in long-lived mammals that does not exist as such in short-lived organisms. Another puzzle provided by current observations is that family members with the same genetic defect, haplo-insufficiency for one of the telomerase genes, can present with widely different diseases. Here, the crucial role of telomeres and telomerase in human (stem cell) biology is discussed from a Darwinian perspective. It is proposed that the variable phenotype and penetrance of heritable human telomerase deficiencies result from additional environmental, genetic and stochastic factors or combinations thereof. |
| publisher |
Nature Publishing Group |
| publishDate |
2009 |
| url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2722246/ |
| _version_ |
1611441055062818816 |