Prion protein gene

Del Bo, R., Comi, G. R, Giorda, R. etal. The 129 codon polymorphism of the prion protein gene influences earlier cognitive performance in Down syndrome subjects. /. Neurol. 250 688-692,2003. 

Pathogenic mutations in the prion protein gene cause inherited prion disease 793... 

Collinge, J. et al. Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases. Am. J. Hum. Genet. 49 1351-1354,1991. 

Mead, S. et al. Balancing selection at the prion protein gene consistent with prehistoric kuru-like epidemics. Science 300 640-643,2003. 

In familial prion diseases germ line mutations in the prion protein gene leads to PrP " deposition in the brain and nervous system. Prion agent has not been found in peripheral tissues in the limited number of familial prion disease cases that have been examined. 

Gerstmann-Straussler-Sclieinker (GSS) syndrome is a prion disease linked to germ line mutations or insertions in the human prion protein gene resulting in a neurodegenerative brain disorder. 

TSEs can exhibit inherited, infectious and sporadic presentations. Additionally, the inherited disease can also be infectious. CJD occurs both as an inherited autosomal dominant disorder and in a transmissible form. In the protein only hypothesis, the abnormal prion protein, either introduced from external sources or produced by the mutated prion protein gene, affects normal protein folding and shifts the prion protein folding towards the formation... 

Fig. 1 Diagram of the human prion protein gene showing the octapeptide repeat region (51-91), regions of predicted secondary structure [designated a (helical) or [3 (sheet)], pathogenic or likely pathogenic mutations (above in red), non-synonymous polymorphisms and synonymous polymorphisms (below in green)...

Schatzl HM, Da Costa M, Taylor L et al (1995) Prion protein gene variation among primates. J Mol Biol 245 362-374... 

Collinge J, Beck J, Campbell T et al (1996) Prion protein gene analysis in new variant cases of Creutzfeldt-Jakob disease. Lancet 348 56... 

Johnson C, Johnson J, Clayton M et al (2003) Prion protein gene heterogeneity in free-ranging white-tailed deer within the chronic wasting disease affected region of Wisconsin. JWildlDis 39 576-581... 

Clouscard C, Beaudry P, Elsen JM, Milan D, Dussaucy M, Bounneau C, Schelcher F, Chatelain J, Launay JM, Laplanche JL (1995) Different allelic effects of the codons 136 and 171 of the prion protein gene in sheep with natural scrapie. J Gen Virol 76(Pt 8) 2097-2101... 

Richt JA, Hall SM (2008) BSE case associated with prion protein gene mutation. PLoS Pathog 4 el000156... 

Peoc h K, Manivet P, Beaudry P, Attane F, Besson G, Hannequin D, Delasnerie-Laupretre N, Laplanche J-L (2000) Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene PRNP in inherited prion diseases with Creutzfeldt-Jakob disease phenotype. Hum Mutat 15 482... 

Ripoll L, Laplanche JL, Salzmann M, Jouvet A, Planques B, Dussaucy M, Chatelain J, Beaudry P, Launay JM (1993) A new point mutation in the prion protein gene at codon 210 in Creutzfeldt-Jakob disease. Neurology 43 1934... 

Nitrini R, Rosemberg S, PassosBueno MR, daSilva LST, Iughetti P, Papadopoulos M, Carrilho PM, Caramelli P, Albrecht S, Zatz M, LeBlanc A (1997) Familial spongiform encephalopathy associated with a novel prion protein gene mutation. Ann Neurol 42 138... 

Kovacs GG, Trabattoni G, Hainfellner JA, Ironside JW, Knight RSG, Budka H (2002) Mutations of the prion protein gene phenotypic spectrum. J Neurol 249 1567... 

Resende CG, Outeiro TF, Sands L, Lindquist S, Tuite MF (2003) Prion protein gene polymorphisms in Saccharomyces cerevisiae. Mol Microbiol 49 1005-1017... 

Capellari S, Vital C, Patch P, et al. Eamilial prion disease with a novel 144-bp insertion in the prion protein gene in a Basque family. Neurology. 1997 49 133-141. 

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