title: Variation of the prion gene in chimpanzees and its implication for prion diseases.
abstract: In humans, familial prion diseases are linked to mutations in the PRNP gene. We have sequenced part of this gene in a large sample of common chimpanzee, Pan troglodytes (n=130 chromosomes). No variation in codons 129 and 219 has been observed: all chimpanzees were homozygous for the Met allele, which in humans increases susceptibility to Creutzfeldt-Jakob disease. We found two sequence variants: one is a synonymous polymorphism unique to the chimpanzee at codon 226, TAC to TAT (Y), with a TAC allele frequency of 80.6%; the other is a non-synonymous change at codon 148 (R148H) that falls in the target epitope for some common commercial antibodies used for prion diagnostics, and is highly conserved across species. The pathogenicity of this mutation is still unknown.
authors.affiliation: Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra, Dr Aiguader 80, 08003 Barcelona, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Soldevila
authors.forename: A M
authors.initials: AM
authors.lastname: Andrés
authors.forename: A
authors.initials: A
authors.lastname: Blancher
authors.forename: F
authors.initials: F
authors.lastname: Calafell
authors.forename: M
authors.initials: M
authors.lastname: Ordoñez
authors.forename: M
authors.initials: M
authors.lastname: Pumarola
authors.forename: B
authors.initials: B
authors.lastname: Oliva
authors.forename: J
authors.initials: J
authors.lastname: Aramburu
authors.forename: J
authors.initials: J
authors.lastname: Bertranpetit
mesh_terms: D000595:Amino Acid Sequence / Q000235:genetics; D000682:Amyloid / Q000737:chemistry / Q000235:genetics*; D000818:Animals; D001483:Base Sequence / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D002679:Pan troglodytes / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D017096:Prion Diseases / Q000235:genetics*; D011328:Prions / Q000737:chemistry / Q000235:genetics; D011498:Protein Precursors / Q000737:chemistry / Q000235:genetics*
chemical_list: D000682:Amyloid; D011328:Prions; D011498:Protein Precursors