An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease.
In a pedigree with Creutzfeldt-Jakob disease we identified a 144-bp insertion in the open reading frame of the prion protein (PrP) gene. The insertion is in-frame and codes for 6 extra uninterrupted octapeptide repeats in addition to the 5 that are normally present in the N-terminal region of the protein. The possibility that this mutation may prove relevant to elucidating the mechanism of horizontal transmission of the spongiform encephalopathies is discussed.
Owen
F
F
Division of Psychiatry, Clinical Research Centre, Harrow, Middlesex, U.K.
Poulter
M
M
Shah
T
T
Collinge
J
J
Lofthouse
R
R
Baker
H
H
Ridley
R
R
McVey
J
J
Crow
T J
TJ
D000595:Amino Acid Sequence; D001483:Base Sequence; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics*; D004251:DNA Transposable Elements; D006801:Humans; D008969:Molecular Sequence Data; D011328:Prions / Q000235:genetics*
D004251:DNA Transposable Elements; D011328:Prions