LongevityMap variant group

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.

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

GenAge model organism genes

CellAge gene expression

Nebel et al. (2009)