ArticleProceedings of the National Academy of Sciences of the United States of America2001
Identification of multiple quantitative trait loci linked to prion disease incubation period in mice.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers, 1 of them a synthesis that pooled it.
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Who cites it
70 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.Human molecular genetics · 2012Pooled it
- Overexpression of bank vole PrP(I109) in mice induces a spontaneous atypical prion disease with sex-dependent onset, early NfL elevation, and universal prion strain permissiveness.Acta neuropathologica communications · 2026Article
- Cofactor molecules: Essential partners for infectious prions.Progress in molecular biology and translational science · 2020Review
- Scrapie susceptibility-associated indel polymorphism of shadow of prion protein gene (SPRN) in Korean native black goats.Scientific reports · 2019Article
- Kinetics of Human Mutant Tau Prion Formation in the Brains of 2 Transgenic Mouse Lines.JAMA neurology · 2017Article
- Neurodegenerative Disease Transmission and Transgenesis in Mice.Cold Spring Harbor perspectives in biology · 2017Review
- Correlation of cellular factors and differential scrapie prion permissiveness in ovine microglia.Virus research · 2017Article
- What's next for genomics and prion diseases?Future science OA · 2017Article
- Article
- The role of the NADPH oxidase NOX2 in prion pathogenesis.PLoS pathogens · 2014Article
- In vitro screen of prion disease susceptibility genes using the scrapie cell assay.Human molecular genetics · 2014Article
- Identification of a gene regulatory network associated with prion replication.The EMBO journal · 2014Article
- Microglial Cx3cr1 knockout reduces prion disease incubation time in mice.BMC neuroscience · 2014Article
- Assessing the susceptibility of transgenic mice overexpressing deer prion protein to bovine spongiform encephalopathy.Journal of virology · 2014Article
- Article
- RARB and STMN2 polymorphisms are not associated with sporadic Creutzfeldt-Jakob disease (CJD) in the Korean population.Molecular biology reports · 2014Article
- Genetics of prion diseases.Current opinion in genetics & development · 2013Review
- Mouse prion protein polymorphism Phe-108/Val-189 affects the kinetics of fibril formation and the response to seeding: evidence for a two-step nucleation polymerization mechanism.The Journal of biological chemistry · 2013Article
- Association mapping of genetic risk factors for chronic wasting disease in wild deer.Evolutionary applications · 2013Article
- Article
10 more citing papers are in PubMed but not listed here.
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Polymorphisms in the prion protein gene are known to affect prion disease incubation times and susceptibility in humans and mice. However, studies with inbred lines of mice show that large differences in incubation times occur even with the same amino acid sequence of the prion protein, suggesting that other genes may contribute to the observed variation. To identify these loci we analyzed 1,009 animals from an F2 intercross between two strains of mice, CAST/Ei and NZW/OlaHSd, with significantly different incubation periods when challenged with RML scrapie prions. Interval mapping identified three highly significantly linked regions on chromosomes 2, 11, and 12; composite interval mapping suggests that each of these regions includes multiple linked quantitative trait loci. Suggestive evidence for linkage was obtained on chromosomes 6 and 7. The sequence conservation between the mouse and human genome suggests that identification of mouse prion susceptibility alleles may have direct relevance to understanding human susceptibility to bovine spongiform encephalopathy (BSE) infection, as well as identifying key factors in the molecular pathways of prion pathogenesis. However, the demonstration of other major genetic effects on incubation period suggests the need for extreme caution in interpreting estimates of variant Creutzfeldt-Jakob disease epidemic size utilizing existing epidemiological models.
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