Prion genotypes in Central America suggest selection for the V129 allele
Abstract
Using the well-characterized, human diversity sample series, we show that the V129 prion allele has a very high frequency in South American populations relative to the East Asian populations from which it arose. We suggest there has been selection at the prion locus, possibly mediated by Kuru-like diseases, which has influenced its allele frequency.
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11 of 16 kuru cases that occurred in 1964-1988 had a 129 Val/Val genotype.
“Indeed, 11 of 16 kuru cases that occurred in 1964–1988 had a 129 Val/Val genotype (and unpublished data) (40–42).”
From Kuru (2012) · cites this paper as [41]
A balancing selection at the PRNP locus somewhat similar to what occurred in the Fore was discovered in some other world populations and has been interpreted as evidence of selection pressure from possible epidemics of prion diseases in prehistoric humans.
“Surprisingly, a balancing selection at the PRNP locus somewhat similar to what occurred in the Fore was discovered in some other world populations and has been interpreted as evidence of selection pressure from possible epidemics of prion diseases in prehistoric humans (40, 41).”
From Kuru (2012) · cites this paper as [41]
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“However, the exposure disappeared because of an Australian ‘‘carrot-and-stick’’ approach to the practice of cannibalism rather than by any biological or medical reason! Surprisingly, a balancing selection at the PRNP locus somewhat similar to what occurred in the Fore was discovered in some other world populations and…”
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Frequency distribution of PRNP polymorphisms in the Pakistani population
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- Authors
- Hardy, J., Scholz, S., Evans, W., Goldfarb, L., & Singleton, A.
- Affiliations
- National Institutes of Health (US)
- Corresponding author
- Hardy, John
- Venue
- American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
- Publisher
- Wiley
- Published
- 2005-11-14
- Volume
- 141B
- Issue
- 1
- Pages
- 33-35
- ISSN
- 1552-4841 (ISSN-L)
- 1552-485X
- OpenAlex
- W2096816363
- Cited by
- 7
- References
- 14
- Citations by year
- 2017: 1 · 2012: 1
- FWCI
- 0.38
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics Part B Neuropsychiatric Genetics (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Prion Diseases and Protein Misfolding
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- prion protein gene, allele frequency, natural selection, prion disease, Central America, South American populations, East Asian populations, genetic diversity
- MeSH terms
- Alleles, Central America, Gene Frequency, Genotype, Humans, Prions, Selection, Genetic, South America, Valine, Genetic Variation
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