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Yeast As a Chassis for Developing Functional Assays to Study Human P53
Published on: August 4, 2019
Association between TP53 gene ARG72PRO polymorphism and chromosome aberrations in human cancers
Nicolay V Litviakov1, Evgeny V Denisov, Ravil' M Takhauov
1Seversk Biophysical Research Centre of the Federal Medico-Biological Agency, Seversk, Russia.
Molecular Carcinogenesis
|June 1, 2010
Summary
The TP53 gene Arg72Pro polymorphism influences DNA repair and chromosome aberrations in cancer patients. The Arg variant is linked to higher aberration rates, especially in women, while the Pro variant shows lower rates.
Area of Science:
- Genetics
- Cancer Biology
- Molecular Biology
Background:
- The TP53 gene is crucial for DNA repair.
- The Arg72Pro polymorphism (rs1042522) in TP53 affects p53 protein function and DNA repair gene regulation.
- Different TP53 genotypes can influence chromosome aberration levels in cancer patients.
Purpose of the Study:
- To investigate the association between TP53 Arg72Pro genotypes and the frequency of chromosome aberrations (chromatid breaks, chromosome-type aberrations, aberrant cells) in cancer patients.
- To determine if TP53 genotype influences DNA repair efficiency as indicated by chromosomal damage.
Main Methods:
- Analysis of chromatid breaks (CB), chromosome-type aberrations (CTA), and aberrant cells (AC) frequencies.
- Genotyping of the TP53 Arg72Pro polymorphism (rs1042522) in 102 cancer patients.
- Statistical comparison of aberration frequencies across different Arg72Pro genotypes, stratified by sex.
Main Results:
- The Arg variant of the TP53 gene was associated with a higher frequency of aberrant cells (AC) and chromatid breaks (CB).
- Arg/Arg genotype carriers exhibited significantly more chromosome aberrations compared to Arg/Pro and Pro/Pro genotypes (P < 0.05).
- The Pro/Pro genotype showed the lowest levels of AC and CB. Notably, women with the Arg/Arg genotype had the highest frequency of CB and AC (P < 0.001), with no significant differences observed in male patients.
Conclusions:
- The TP53 gene Arg72Pro polymorphism significantly influences the occurrence of chromosome aberrations in cancer.
- The Arg/Arg genotype is linked to increased chromosomal instability, particularly in female cancer patients.
- The Pro/Pro genotype appears to confer a protective effect against chromosomal aberrations in cancer patients.
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