An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease
| Autor: | Mark Poulter, Rosalind M. Ridley, John H. McVey, Frank Owen, R. Lofthouse, John Collinge, Timothy J. Crow, T. Shah, Harry F. Baker |
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| Rok vydání: | 1990 |
| Předmět: |
Genetics
Mutation Base Sequence Prions animal diseases Molecular Sequence Data Disease Biology medicine.disease_cause Virology Creutzfeldt-Jakob Syndrome nervous system diseases Cellular and Molecular Neuroscience Open reading frame DNA Transposable Elements Familial Creutzfeldt-Jakob medicine Humans Base sequence Amino Acid Sequence Prion protein Molecular Biology Gene Peptide sequence |
| Zdroj: | Molecular Brain Research. 7:273-276 |
| ISSN: | 0169-328X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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