LongevityMap variant

Entry Details

Longevity Association
Significant
Population
Ashkenazi Jewish
Study Design
In a cohort of Ashkenazi Jewish centenarians, their offspring, and offspring-matched controls, the inheritance and maintenance of telomere length and variations in hTERT and hTERC were studied
Conclusions
Sequence analysis of hTERT and hTERC showed overrepresentation of synonymous and intronic mutations among centenarians relative to controls. Moreover, common hTERT haplotype was associated with both exceptional longevity and longer telomere length.
Identifier
TERT
Cytogenetic Location
5p15.33
UCSC Genome Browser
View 5p15.33 on the UCSC genome browser

Gene details

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

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Tert
GenAge human genes
  • This gene is present as TERT
CellAge
  • This gene is present as TERT

References

Atzmon et al. (2010)

Other variants which are also part of this study