TP53 codon 72 polymorphism in pigmentary phenotypes.

Journal of Biosciences
Karita Antunes Costa, Lidia Andreu Guillo

Abstract

The p53 protein exerts different cellular functions, and recent findings have demonstrated its influence on the cascade of skin pigmentation during UV exposure. Among TP53 gene polymorphisms, the most studied is the G to C transversion in exon 4 at codon 72, which results in three distinct genotypes, Arg/Arg, Pro/Pro and Arg/Pro, each one encoding different p53 isoforms. Therefore, this study aimed to determine the relationship between TP53 codon 72 polymorphism and skin protection against sunburn. Genomic DNA was extracted from peripheral blood samples and genotyping was performed by PCR and confirmed by restriction enzyme digestion. The genotype frequency was 50% for Arg/Arg and 14.6% for Pro/Pro genotype. The frequency of heterozygous subjects was 35.4%. In our population, p53 genotypes were in Hardy-Weinberg (HW) equilibrium (X2 HM less than 3.84), showing a predominance of arginine allele (total Arg allele frequency of 68%). No significant association between p53 genotype and skin colour, hair or eye colour and susceptibility to sun exposure was found. However, further analysis demonstrated a significant association between the genotype Pro/Pro and blue/green eyes among participants who presented redness (P=0.016). Our fin...Continue Reading

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Citations

Feb 26, 2013·Biomedicine & Pharmacotherapy = Biomédecine & Pharmacothérapie·Jeany Camelo-SantosLidia Andreu Guillo
Jul 17, 2014·Biological Research·Eduardo Avf RamalhoEduardo Ic Beltrão
May 9, 2013·Molecular Biology Reports·Aparecida de Lourdes PerimMaria Angelica Ehara Watanabe

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