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Is p53 Polymorphism Maintained by Natural Selection?
Abstract
We present here a new interesting feature of the human tumor suppressor gene p53: a very pronounced ethnic and clinal variation of polymorphic codon 72 alleles. The frequency of the A1 (Pro) allele showed a north-south cline from 17% in Swedish Saamis to 63% in African Blacks (Nigerians), and there was a significant (p < 0.001) correlation (r = 0.95) between the A2 frequency and latitude. In the Finnish and Swedish populations no significant differences were found with respect to the genotype and allele distributions in spontaneously aborted fetuses and liveborn children, which makes differential intrauterine selection unlikely. However, the ethnic and clinal variations suggest that the codon 72 polymorphism is balanced and maintained by natural selection.
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Citations
Cited by
p53 and Human Cancer: The First Ten Thousand Mutations
(1999) · Advances in Cancer Research · doi:10.1016/s0065-230x(08)60785-x · Cited by 986
TP53 mutations in human cancers: Functional selection and impact on cancer prognosis and outcomes
Petitjean, A., Achatz, M. I. W., Borresen-Dale, A. L., Hainaut, P., & Olivier, M. (2007) · Oncogene · doi:10.1038/sj.onc.1210302 · Cited by 884
Mitochondrial p53 activates Bak and causes disruption of a Bak–Mcl1 complex
Leu, J. I.-J., Dumont, P., Hafey, M., Murphy, M. E., & George, D. L. (2004) · Nature Cell Biology · doi:10.1038/ncb1123 · Cited by 770
Using Environmental Correlations to Identify Loci Underlying Local Adaptation
Coop, G., Witonsky, D., Di Rienzo, A., & Pritchard, J. K. (2010) · Genetics · doi:10.1534/genetics.110.114819 · Cited by 709
The genetics of the p53 pathway, apoptosis and cancer therapy
Vazquez, A., Bond, E. E., Levine, A. J., & Bond, G. L. (2008) · Nature Reviews Drug Discovery · doi:10.1038/nrd2656 · Cited by 676
Metadata
- Authors
- Beckman, G., Birgander, R., Själander, A., Saha, N., Holmberg, P. &., Kivelä, A., & Beckman, L.
- Venue
- Human Heredity
- Publisher
- S. Karger AG
- Published
- 1994
- Volume
- 44
- Issue
- 5
- Pages
- 266-270
- ISSN
- 0001-5652 (ISSN-L)
- 1423-0062
- OpenAlex
- W2029679807
- Cited by
- 362
- References
- 0
- FWCI
- 0.61
- Type
- journal article
- Language
- en
- Open access
- closed
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- Beckman, G., Birgander, R., Själander, A., Saha, N., Holmberg, P. &., Kivelä, A., & Beckman, L. (1994). Is p53 Polymorphism Maintained by Natural Selection? Human Heredity. https://doi.org/10.1159/000154228
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