Journal
NUCLEUS
Volume 2, Issue 1, Pages 24-29Publisher
TAYLOR & FRANCIS INC
DOI: 10.4161/nucl.2.1.13993
Keywords
telomere; dyskeratosis congenita; telomerase; SNM1B; Apollo
Categories
Funding
- NIH [GM066228]
- NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES [R01GM066228, R56GM066228] Funding Source: NIH RePORTER
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Approximately 90% of all human cancers, in which some deregulation of cell cycle arrest or programmed cell death has occurred, express telomerase, a ribonucleoprotein whose activity is normally turned off in healthy somatic tissues. Additionally, small populations of self-renewing stem cells, such as hematopoietic stem cells, skin and hair follicle basal layer cells and intestinal basal crypt cells, have been shown to retain telomerase activity. Conversely, hereditary defects that result in shortened telomeres in humans have been shown to manifest most often as bone marrow failure or pulmonary fibrosis, along with a myriad of other symptoms, likely due to the loss of the stem and/or progenitor cells of affected tissues. The aim of this review is to highlight our knowledge of the mechanisms of telomere maintenance that contribute to the pathology of human disease caused by dysfunctional telomere homeostasis. Specifically, a new role for the SNM1B/Apollo nuclease in the pathologies of Hoyeraal-Hreidarsson syndrome will be discussed.
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