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
- Trp53
- Rattus norvegicus
- LOC100910954