Vasa-Nicotera, M., Brouilette, S., Mangino, M., Thompson, J. R., Braund, P., Clemitson, J.-R., Mason, A., Bodycote, C. L., Raleigh, S. M., Louis, E. and Samani, N. J. (2005) Mapping of a major locus that determines telomere length in humans. American Journal of Human Genetics. 76(1), pp. 147-151. 1537-6605.
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Information
Abstract:
Telomere length is a crucial factor for both normal chromosomal function and senescence. Mean telomere length in humans shows considerable interindividual variation and strong genetic determination. To see if a locus (or loci) affecting telomere length in humans could be mapped, we performed a quantitative-trait linkage analysis of mean leukocyte telomere-restriction–fragment (TRF) lengths, measured by Southern blotting, in 383 adult subjects comprising 258 sib pairs. Heritability of mean (±SE) TRF was 81.9%±11.8%. There was significant linkage (LOD score 3.20) of mean TRF length to a locus on chromosome 12, which explained 49% of the overall variability in mean TRF length. We present preliminary analysis of a strong candidate gene in the region, the DNA helicase DDX11. In conclusion, we report mapping of the first locus that determines mean telomere length in humans. Identification of the gene involved and elucidation of its mechanism of action could have important implications for our understanding of chromosomal assembly, telomere biology, and susceptibility to age-related diseases
Additional Information:
UoA 12, RAE 2008
Subjects:
Creators:
Vasa-Nicotera, M., Brouilette, S., Mangino, M., Thompson, J. R., Braund, P., Clemitson, J.-R., Mason, A. , Bodycote, C. L., Raleigh, S. M., Louis, E. and Samani, N. J.
Faculties, Divisions and Institutes:
University Faculties, Divisions and Research Centres - OLD > Faculty of Health & Society > Sports, Exercise & Life Sciences
University Faculties, Divisions and Research Centres - OLD > Research Centre > Institute of Health and Wellbeing > Centre for Physical Activity and Chronic Disease
Faculties > Faculty of Health & Society > Sports, Exercise & Life Sciences
Research Centres > Centre for Health Sciences and Services
Research Centres > Centre for Physical Activity and Life Sciences
University Faculties, Divisions and Research Centres - OLD > Research Centre > Institute of Health and Wellbeing > Centre for Physical Activity and Chronic Disease
Faculties > Faculty of Health & Society > Sports, Exercise & Life Sciences
Research Centres > Centre for Health Sciences and Services
Research Centres > Centre for Physical Activity and Life Sciences
Date:
1 January 2005
Date Type:
Publication
Page Range:
pp. 147-151
Journal or Publication Title:
American Journal of Human Genetics
Volume:
76
Number:
1
Language:
English
DOI:
ISSN:
1537-6605
Status:
Published / Disseminated
Refereed:
Yes
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