User:Arm7wb

Mutated Conditions:

Li-Fraumeni Syndrome demonstrates both allelic and locus heterogeneity, meaning that different mutations both in different genes as well as at the same locus can produce similar phenotypes. Amino acid changes (missense mutations) in the DNA binding region of p53 are more commonly associated with brain malignancies where missense mutations elsewhere in the p53 tetramer are associated with adrenocortical carcinomas. Mutations that occur outside of the DNA binding domain of p53 result in a milder phenotype, and are also associated with a later age of onset for tumor development. Evidence for this phenomenon suggests that mutations outside of the DNA binding region disrupt p53’s transactivation properties. Transactivation refers to a protein’s action on other genes’ behavior. p53 complexes with mutated DNA which signals for the expression and localization of other proteins that function to fix the DNA site or initiate apoptosis. Mutations that interfere with the DNA binding domain, appear to cause a more serious phenotype by disrupting the transactivation properties of the p53 protein. Mes455 (talk) 04:00, 21 November 2016 (UTC)mes455

From: "Normal Conditions"

"The repair of "bad" DNA, or the apoptosis of a cell, prevents the proliferation of damaged cells." Mes455 (talk) 05:29, 21 November 2016 (UTC)mes455

LFS-2

CHEK1 and CHEK2 are both required to prevent cancer malignancy. In LFS-2, truncations or missense mutations in CHEK2 have resulted in a loss-of-function in which p53 is not phosphorylated by CHEK2 in response to DNA damage/cellular stress. In the reported cases where CHEK2 is mutated, p53 is not mutated in the resulting tumors. Mes455 (talk) 05:49, 21 November 2016 (UTC)mes455