Our data confirm that elk CWD prions can convert the human Pr[P.sup.C], at least in vitro, and show that the homologous PRNP
polymorphisms at codon 129 and 132 in humans and cervids affect conversion efficiency.
Remarkably, disease transmission of brain extracts from Tg animals overexpressing the P101L mutation neither occurred to wild-type nor to Tg mice expressing MoPrP-P101L from two transgene copies that do not develop disease spontaneously in their natural lifespan , which is in full agreement with a previous study from Manson's group showing that PRNP
gene-targeted 101LL mice expressing MoPrPP101L failed to develop the neurodegenerative disease spontaneously .
Estibeiro et al., "Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom: a systematic analysis of predisposing mutations and allelic variation in the PRNP
gene," Human Genetics, vol.
Con estos modelos se ha comprobado que la barrera de especie en los priones se debe al gen PrnP
, que es necesaria la Pr[P.sup.c] normal para la "replicacion" de la Pr[P.sup.res], que la susceptibilidad aumenta con la homologia entre Pr[P.sup.res] y Pr[P.sup.c], y que la nvECJ procede de la EEB bovina.
Son heredadas de manera autosomica dominante y cosegregan con mutaciones en el gen PRNP
For comparison and validation purposes, we also analyzed PRNP
genotypes by use of Big-Dye Terminator sequencing on a Model AB13100 sequencer (Applied Biosystems), as described elsewhere.
Mice have been raised in whom Prnp
(the designation for the prion protein gene in mice) has been eliminated or knocked out of their genome.
Sequencing revealed the same PRNP
sequence in animals 4 and 8 (GenBank accession nos.
An allelic polymorphism of codon 129 of human PRNP
modulates disease susceptibility and clinicopathologic phenotype in CJD (11).
Polymorphism at codon 129 of the human PrP gene (PRNP
), where methionine (Met) or valine (Val) can be encoded, strongly affects susceptibility to human prion diseases (16-20).
A promoter with the 23-bp insertion of the PRNP
gene binding strongly to RP58 (repressor protein 58) affected production traits in cattle (Sander et al., 2005 ).
Genomic sequence variability of the prion gene (PRNP
) in Korean cattle.