LongevityMap variant

Entry Details

Longevity Association
Significant
Population
German
Study Design
92 non-synonymous SNPs in 49 DNA repair genes were tested for a possible association with longevity in a sample of 395 German centenarians and 411 controls
Conclusions
A longevity associated signal (in particular rs735943 and rs4149965) in EXO1 was further investigated by fine mapping and mutation detection, leading to the identification of the functionally relevant SNP rs1776180. The C allele of this promoter SNP is significantly enriched in female centenarians. This association was confirmed in 455 French female centenarians and 109 younger individuals as significant. The C allele leads to the loss of a binding site for the basic helix-loop-helix transcription factor E47, resulting in higher EXO1 expression.
Identifier
rs1776180
In Other Studies (IDs)
643
Cytogenetic Location
1q43
UCSC Genome Browser
View 1q43 on the UCSC genome browser

Gene details

HGNC symbol
EXO1
Aliases
HEX1; hExoI 
Common name
exonuclease 1 
Description
This gene encodes a protein with 5' to 3' exonuclease activity as well as an RNase H activity. It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involved in mismatch repair and recombination. Alternative splicing of this gene results in three transcript variants encoding two different isoforms. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
20
OMIM
606063
Ensembl
ENSG00000174371
UniProt/Swiss-Prot
A8K5H6_HUMAN
Entrez Gene
9156
UniGene
498248
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
exo-1
Danio rerio
exo1
Drosophila melanogaster
tos
Mus musculus
Exo1
Rattus norvegicus
Exo1

References

Nebel et al. (2009)

Other variants which are also part of this study