LongevityMap variant
- Longevity Association
- Significant
- Population
- Italian (Central)
- Study Design
- MNS16A genotypes were determined for 1072 unrelated healthy individuals (18–106 years old) divided into three gender-specific age classes defined according to demographic information and accounting for the different survivals between sexes. The categories for men were: individuals <66 years old, individuals 66-88 years old, and individuals > 88 years old. The categories for women were: individuals <73 years old, individuals 73-91 years old, and individuals > 91 years old.
- Conclusions
- The TERT functional variable number of tandem repeat MNS16A allele was found to be negatively associated with longevity. MNS16A shows significant associations when comparing males/females >88/91 years old with males/females in the age group 66-88/73-91.
- HGNC symbol
- TERT
- Aliases
- TP2; TRT; CMM9; EST2; TCS1; hTRT; DKCA2; DKCB4; hEST2; PFBMFT1
- Common name
- telomerase reverse transcriptase
- Description
- Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 16
- OMIM
- 187270
- Ensembl
- ENSG00000164362
- UniProt/Swiss-Prot
- TERT_HUMAN
- Entrez Gene
- 7015
- UniGene
- 492203
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- tert
- Mus musculus
- Tert
- Rattus norvegicus
- Tert
- Saccharomyces cerevisiae
- EST2
- Schizosaccharomyces pombe
- trt1
- GenAge model organism genes
- A homolog of this gene for Mus musculus is present as Tert
- A homolog of this gene for Danio rerio is present as tert
- GenAge human genes
- This gene is present as TERT
- CellAge
- This gene is present as TERT
Concetti et al. (2013)
Other variants which are also part of this study
