LongevityMap Gene

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]
Cytogenetic Location
1q43
UCSC Genome Browser
View 1q43 on the UCSC genome browser
OMIM
606063
Ensembl
ENSG00000174371
UniProt/Swiss-Prot
A8K5H6_HUMAN
Entrez Gene
9156
UniGene
498248
1000 Genomes
1000 Genomes

Homologs in model organisms

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

Studies (4)

Significant/Non-significant: 1/3

Study 1

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.
Indentifier
rs1776180
Reference

    Study 2

    Longevity Association
    Non-significant
    Population
    American of Japanese origin
    Study Design
    Nested case-control design was used in 213 longevity phenotype subjects (80-93 y, 85.6±3.1) and 402 controls (71-79 y, 74.6±2.1) to identify the association between genetic variation in insulin/IGF-1 signaling genes and longevity
    Conclusions
    No association was found between genetic variation in any of the tested genes and longevity in American men of Japanese ancestry
    Indentifier
    rs1776180
    Reference

      Study 3

      Longevity Association
      Non-significant
      Population
      German
      Study Design
      Genome-wide association study comparing 664,472 autosomal SNPs in 763 long-lived individuals (mean age: 99.7 years) and 1085 controls (mean age: 60.2 years). Top SNPs from the GWAS were further investigated in an independent German sample comprised of 754 long-lived individuals (mean age: 96.9 years) and 860 controls (mean age: 67.3 years).
      Conclusions
      FOXO3A and EXO1 were not significantly associated with longevity
      Indentifier
      EXO1
      Reference

        Study 4

        Longevity Association
        Non-significant
        Population
        Danish
        Study Design
        592 SNPs from 77 genes involved in nine sub-processes were analyzed in 1089 long-lived and 736 middle-aged Danes. Then, a replicated study was carried out in a German cohort.
        Conclusions
        The results did not remain significant after correction. The findings drawn from the Danish cohort were not replicated in German samples.
        Indentifier
        rs735943
        Reference