NR APVX
AU Soldevila,M.; Andres,A.M.; Blancher,A.; Calafell,F.; Ordonez,M.; Pumarola,M.; Oliva,B.; Aramburu,J.; Bertranpetit,J.
TI Variation of the prion gene in chimpanzees and its implication for prion diseases
QU Neuroscience Letters 2004 Jan 30; 355(3): 157-60
PT journal article
AB 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.
MH Amino Acid Sequence/genetics; Amyloid/chemistry/*genetics; Animals; Base Sequence/genetics; Gene Frequency/genetics; Molecular Sequence Data; Mutation/genetics; Pan troglodytes/*genetics; Polymorphism (Genetics)/genetics; Prion Diseases/*genetics; Prions/chemistry/genetics; Protein Precursors/chemistry/*genetics; Support, Non-U.S. Gov't; Variation (Genetics)/*genetics
AD Unitat de Biologia Evolutiva, Facultat de Ciencies de la Salut i de la Vida, Universität Pompeu Fabra, Dr. Aiguader 80, 08003, Barcelona, Spain
SP englisch
PO Irland