ArticleGenome research2006
The prion protein gene in humans revisited: lessons from a worldwide resequencing study.
Article in Genome research, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 39 citations in OpenAlex.
- An investigation into the association between cannibalism and serial killers.Psychiatry, psychology, and law : an interdisciplinary journal of the Australian and New Zealand Association of Psychiatry, Psychology and Law · 2023Article
- What Animal Cancers teach us about Human Biology.Theranostics · 2021Review
- Spatial heterogeneity of prion gene polymorphisms in an area recently infected by chronic wasting disease.Prion · 2019Article
- A case cluster of variant Creutzfeldt-Jakob disease linked to the Kingdom of Saudi Arabia.Brain : a journal of neurology · 2016Article
- Prions are affected by evolution at two levels.Cellular and molecular life sciences : CMLS · 2016Review
- Negative purifying selection drives prion and doppel protein evolution.Journal of molecular evolution · 2014Article
- Article
- The promise and limitations of population exomics for human evolution studies.Genome biology · 2011Article
- Genetic cross-interaction between APOE and PRNP in sporadic Alzheimer's and Creutzfeldt-Jakob diseases.PloS one · 2011Article
- Analysis of single nucleotide polymorphisms of PRNP gene in twenty-four ethnic groups of India.Journal of genetics · 2010Article
- An evolutionary approach to the medical implications of the tumor necrosis factor receptor superfamily member 13B (TNFRSF13B) gene.Genes and immunity · 2009Article
- Frequent missense and insertion/deletion polymorphisms in the ovine Shadoo gene parallel species-specific variation in PrP.PloS one · 2009Article
- Positive selection in prion protein.Journal of molecular evolution · 2009Article
- Genetic susceptibility, evolution and the kuru epidemic.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2008Article
- Prion gene haplotypes of U.S. cattle.BMC genetics · 2006Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ample evidence has accumulated showing that different coding variants of the PRNP gene confer differential susceptibility for prion diseases. Here we evaluate the patterns of nucleotide variation in PRNP exon 2, which includes all the protein-coding sequence, by resequencing a worldwide sample of 174 humans for 2378 bp. In line with previous studies, we found two main haplotypes differentiated by nonsynonymous substitution in codon 129. Our analyses reveal the worldwide pattern of variation at the PRNP gene to be inconsistent with neutral expectations, indicating instead an excess of low-frequency variants, a footprint of the action of either positive or purifying selection. A comparison of neutrality test statistics for PRNP with other human genes indicates that the signal of positive selection on PRNP is stronger than expected from a possible confounding genome-wide background signal of population expansion. Two main conclusions arise from our analysis. First, the existence of an ancient, stable, balanced polymorphism that has been claimed in a previous study and related to cannibalism can be rejected and is shown to be due to ascertainment bias. Second, our results are consistent with a complex history of selection including mainly positive selection, even if short local periods of balancing selection (Kuru-like episodes), or even a weak purifying selection model, are consistent with our data.
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