Scientific background: |
PRNP(prion protein), also known as CD230 and PRP, is a protein that in humans is encoded by the
PRNP gene. The major prion protein is expressed in the brain and several other tissues. Expression is
most predominant in the nervous system but occurs in many other tissues throughout the body. Puckett
et al. (1991)identified a RFLP with a high degree of heterozygosity in the 5-prime region of the PRNP
gene, which might serve as a useful marker for the pter-p12 region of chromosome 20.PRNP is
associated with a variety of cognitive deficiencies and neurodegenerative diseases such as
Creutzfeldt-Jakob disease, bovine spongiform encephalopathy, and kuru. PRNP is highly conserved
through mammals, lending credence to application of conclusions from test animals such as mice.
Comparison between primates is especially similar, ranging from 92.9-99.6% similarity in amino acid
sequences. |
References: |
1. Bounhar, Y., Zhang, Y., Goodyer, C. G., LeBlanc, A.Prion protein protects human neurons against
Bax-mediated apoptosis.J. Biol. Chem. 276: 39145-39149, 2001.
2. Brown, P., Galvez, S., Goldfarb, L. G., Nieto, A., Cartier, L., Gibbs, C. J., Jr., Gajdusek, D. C.Familial
Creutzfeldt-Jakob disease in Chile is associated with the codon 200 mutation of the PRNP amyloid
precursor gene on chromosome 20.J. Neurol. Sci. 112: 65-67, 1992.
3. Puckett, C., Concannon, P., Casey, C., Hood, L.Genomic structure of the human prion protein
gene.Am. J. Hum. Genet. 49: 320-329, 1991. |