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
Saccharomyces cerevisiae: EXO1
Saccharomyces cerevisiae: DIN7

In other databases

GenAge model organism genes

A homolog of this gene for Saccharomyces cerevisiae is present as EXO1

CellAge gene expression

This gene is present as 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

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

Study 3

Longevity Association

Non-significant

Population

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

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