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Is p53 polymorphism maintained by natural selection?

G Beckman1, R Birgander, A Själander

  • 1Department of Medical Genetics, Umeå University, Sweden.

Human Heredity
|September 1, 1994
PubMed
Summary
This summary is machine-generated.

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The human tumor suppressor gene p53 exhibits significant ethnic and geographic variations in its codon 72 alleles. These variations suggest that the p53 codon 72 polymorphism is maintained by natural selection across diverse populations.

Area of Science:

  • Genetics
  • Human Evolution
  • Population Genetics

Background:

  • The p53 tumor suppressor gene is crucial for cellular functions.
  • Polymorphisms in genes can influence disease susceptibility and evolution.
  • Codon 72 is a known polymorphic site in the p53 gene.

Purpose of the Study:

  • To investigate the ethnic and clinal variations of the p53 codon 72 polymorphism.
  • To determine the population genetics of p53 codon 72 alleles.
  • To explore the potential selective pressures maintaining this polymorphism.

Main Methods:

  • Analysis of p53 codon 72 allele frequencies in diverse ethnic groups.
  • Statistical correlation of allele frequencies with geographic latitude.
  • Comparison of allele distributions in fetuses and liveborns to assess selection.

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Main Results:

  • A pronounced north-south cline in p53 codon 72 allele frequencies was observed.
  • The A1 (Pro) allele frequency ranged from 17% in Swedish Saamis to 63% in Nigerian Blacks.
  • A significant positive correlation was found between A2 allele frequency and latitude.

Conclusions:

  • The observed ethnic and clinal variations indicate that the p53 codon 72 polymorphism is not randomly distributed.
  • The data suggest that this polymorphism is balanced and actively maintained by natural selection.
  • Intrauterine selection was deemed unlikely as a driving factor for these variations.