GSS

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The elk PRNP codon 132 polymorphism controls cervid and scrapie prion propagation.
Thus, according to these four studies, the introduction of a single (or two) amino acidic change(s) in PRNP in a critical position can cause remarkably different neurodegenerative diseases and may be sufficient to create distinct protein-based infectious prions.
El gen codificante de la proteina prionica (PRNP) se encuentra en el brazo corto del cromosoma 20, region p12.
The assay was assessed in national and international external PRNP genotyping quality assurance schemes, with complete agreement as to the underlying PRNP genotypes.
Finally, a familial prion disease due to a PRNP open reading frame mutation, or SNP, is known as Gerstmann-Straussler-Scheinker syndrome (GSS).
Such genetic homogeneity also might be reflected in PRNP. Studies on PRNP variability in camels are therefore warranted to explore the existence of genotypes resistant to CPD, which could represent an important tool for CPD management as it was for breeding programs for scrapie eradication in sheep.
Furthennore, we used these models to re-evaluate the potential for human-to-human spread of vCJD, as well as the differential susceptibility and characteristics of the transmitted disease across the different PRNP codon 129 genotypes in humans.
Bovine prion protein (PRNP): promoter polymorphisms modulated PRNP expression and may be responsible for differences in bovine spongiform encephalopathy susceptibility.
Identification of polymorphisms within the bovine prion protein gene (Prnp) by DNA sequencing and genotyping by MALDI-TOF-MS.
To ascertain the host range of different strains from cervids, we inoculated CWD prions isolated from experimentally infected deer with different PRNP genotypes (Q95G96 [wild type (wt)], S96/wt, H95/wt, and H95/S96) and from elk (CWD2 strain) into hamsters and mice.
Prion protein gene (PRNP) sequencing showed no mutations with methionine homozygosity at codon 129.
A key event in the pathogenesis of TSEs is the conversion of the normal cellular prion protein ([PrP.sup.C], encoded by the PRNP gene) into an abnormal disease-associated isoform ([PrP.sup.Sc]) in tissues of infected animals.