p53, also known as tumor protein p53, TP53, cellular tumor antigen p53, or transformation-related protein 53 is a regulatory transcription factor protein that is often mutated in human cancers. The p5
Activation of p53 in response to stress signals initiates its transcriptional activity, leading to the activation of cellular protective pathways
p53 pathway: In a normal cell, p53 is inactivated by its negative regulator, mdm2. Upon DNA damage or other stress, the p53-mdm2 complex dissociates. Activated p53 can induce cell cycle arrest for repair or initiate apoptosis. The mechanism behind this decision is not fully understood.
A micrograph showing cells with abnormal p53 expression (brown) in a brain tumor. p53 immunostain.
Pathogenic mechanisms associated with p53 mutations: (A) Wild-type p53 forms homotetramers that activate gene expression. (B) Dominant-negative mutants form heterotetramers with wild-type p53, impairing transcription in heterozygous states (p53mut/+). (C) Loss-of-function arises from complete inactivation of wild-type alleles and inactivity of the mutant protein. (D) Gain-of-function mutations confer neomorphic activities, such as hijacking other transcription factors, promoting tumorigenesis. Abbreviation: WT, wild type.
Chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 17 spans more than 84 million base pairs and represents between 2.5 and 3%
P53
…in human history, specifically concentrated within a window of 5,000 to 10,000 years ago. In humans, the TP53 gene is located on the short arm of chromosome 17 (17p13.1). The gene spans 20 kb, with a non-coding exon 1 and a very long first intron of 10 kb, overlapping the Hp53int1 gene. The coding sequence…
Inactivating PH mutation in either the EVER1 or EVER2 genes, which are located adjacent to one another on chromosome 17 causes Epidermodysplasia verruciformis.