LongevityMap variant group

Entry Details

Longevity Association
Significant
Population
Irish
Study Design
Polymorphic restriction enzyme sites within a 2643 bp region of mtDNA were identified by PCR-RFLP in 129 aged individuals (80- 97y, 70% female) and 100 controls (19- 45y, 59% female). Then, genetic haplotypes for a healthy aged and a younger control cohort of patients was constructed to find out the relationship between longevity and mtDNA polymorphisms.
Conclusions
The were no significant frequency differences between the two age groups for 46 identified haplotypes. However, the branch of haplotypes defined by 16389g displayed a significant increased frequency in the aged samples (P=0.015). Inversely, the branch of haplotypes defined by 16000g displayed a significant decreased frequency in the aged samples (P=0.011).

Variants (2)

1.
Identifier
16389g
Cytogenetic Location
17p13.1
UCSC Genome Browser
View 17p13.1 on the UCSC genome browser
2.
Identifier
16000g
Cytogenetic Location
17p13.1
UCSC Genome Browser
View 17p13.1 on the UCSC genome browser

Gene details

HGNC symbol
TP53
Aliases
P53; BCC7; LFS1; TRP53 
Common name
tumor protein p53 
Description
This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]
Other longevity studies of this gene
47
OMIM
191170
Ensembl
ENSG00000141510
UniProt/Swiss-Prot
A0A087WT22_HUMAN
Entrez Gene
7157
UniGene
437460
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
tp53
Mus musculus
Tp53
Rattus norvegicus
Tp53

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Trp53
GenAge human genes
  • This gene is present as TP53
CellAge
  • This gene is present as TP53

References

Ross et al. (2001)

Other variants which are also part of this study