title: The shortest known prion protein gene allele occurs in goats, has only three octapeptide repeats and is non-pathogenic.
abstract: The prion protein (PrP) gene modulates the incidence and incubation periods of transmissible spongiform encephalopathies of sheep, goats, mice and man. Here, a new caprine PrP allele encoding the shortest naturally occurring PrP protein so far described is reported. This variant contains only three instead of the usual five copies of a short peptide repeat [Pro-Gln/His-Gly-Gly-Gly-(Gly)-TrpGly-Gln] characteristic of PrP, with an additional Trp to Gly substitution in codon 102. Fifteen out of 111 genotyped goats carried the novel PrP allele and 14 survived without signs of disease for at least 4 years. One goat heterozygous for the polymorphism was challenged experimentally with SSBP/1-scrapie and succumbed after an unusually long incubation period.
authors.affiliation: Institute for Animal Health, Neuropathogenesis Unit, Edinburgh, UK. wilfred.goldmann@bbsrc.ac.uk
authors.forename: W
authors.initials: W
authors.lastname: Goldmann
authors.forename: A
authors.initials: A
authors.lastname: Chong
authors.forename: J
authors.initials: J
authors.lastname: Foster
authors.forename: J
authors.initials: J
authors.lastname: Hope
authors.forename: N
authors.initials: N
authors.lastname: Hunter
mesh_terms: D000483:Alleles; D000818:Animals; D006041:Goats; D009842:Oligopeptides; D011328:Prions / Q000235:genetics* / Q000502:physiology
chemical_list: D009842:Oligopeptides; D011328:Prions