Prion protein 2 (dublet), also known as PRND, or Doppel protein, is a protein which in humans is encoded by the PRNDgene.[1]
Function
This gene is found on chromosome 20, approximately 20 kbp downstream of the gene encoding cellular prion protein, to which it is biochemically and structurally similar. The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that is found predominantly in testis. Mutations in this gene may lead to neurological disorders.[1]
Moore RC, Lee IY, Silverman GL, et al. (1999). "Ataxia in prion protein (PrP)-deficient mice is associated with upregulation of the novel PrP-like protein doppel". J. Mol. Biol. 292 (4): 797–817. doi:10.1006/jmbi.1999.3108. PMID10525406.
Peoc'h K, Guérin C, Brandel JP, et al. (2000). "First report of polymorphisms in the prion-like protein gene (PRND): implications for human prion diseases". Neurosci. Lett. 286 (2): 144–8. doi:10.1016/S0304-3940(00)01100-9. PMID10825657.
Lu K, Wang W, Xie Z, et al. (2000). "Expression and structural characterization of the recombinant human doppel protein". Biochemistry. 39 (44): 13575–83. doi:10.1021/bi001523m. PMID11063595.
Schröder B, Franz B, Hempfling P, et al. (2001). "Polymorphisms within the prion-like protein gene (Prnd) and their implications in human prion diseases, Alzheimer's disease and other neurological disorders". Hum. Genet. 109 (3): 319–25. doi:10.1007/s004390100591. PMID11702213.
Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. doi:10.1038/414865a. PMID11780052.
Peoc'h K, Serres C, Frobert Y, et al. (2003). "The human "prion-like" protein Doppel is expressed in both Sertoli cells and spermatozoa". J. Biol. Chem. 277 (45): 43071–8. doi:10.1074/jbc.M206357200. PMID12200435.
Infante J, Llorca J, Rodero L, et al. (2003). "Polymorphism at codon 174 of the prion-like protein gene is not associated with sporadic Alzheimer's disease". Neurosci. Lett. 332 (3): 213–5. doi:10.1016/S0304-3940(02)00941-2. PMID12399017.
Makrinou E, Collinge J, Antoniou M (2003). "Genomic characterization of the human prion protein (PrP) gene locus". Mamm. Genome. 13 (12): 696–703. doi:10.1007/s00335-002-3043-0. PMID12514748.
Peoc'h K, Volland H, De Gassart A, et al. (2003). "Prion-like protein Doppel expression is not modified in scrapie-infected cells and in the brains of patients with Creutzfeldt–Jakob disease". FEBS Lett. 536 (1–3): 61–5. doi:10.1016/S0014-5793(03)00012-7. PMID12586339.
Hundt C, Weiss S (2004). "The prion-like protein Doppel fails to interact with itself, the prion protein and the 37 kDa/67 kDa laminin receptor in the yeast two-hybrid system". Biochim. Biophys. Acta. 1689 (1): 1–5. doi:10.1016/j.bbadis.2004.02.003. PMID15158907.
Massimino ML, Ballarin C, Bertoli A, et al. (2005). "Human Doppel and prion protein share common membrane microdomains and internalization pathways". Int. J. Biochem. Cell Biol. 36 (10): 2016–31. doi:10.1016/j.biocel.2004.03.002. PMID15203115.
Yin SM, Sy MS, Yang HY, Tien P (2004). "Interaction of Doppel with the full-length laminin receptor precursor protein". Arch. Biochem. Biophys. 428 (2): 165–9. doi:10.1016/j.abb.2004.06.003. PMID15246873.
Serres C, Peoc'h K, Courtot AM, et al. (2006). "Spatio-developmental distribution of the prion-like protein doppel in Mammalian testis: a comparative analysis focusing on its presence in the acrosome of spermatids". Biol. Reprod. 74 (5): 816–23. doi:10.1095/biolreprod.105.047829. PMID16421231.
Azzalin A, Del Vecchio I, Ferretti L, Comincini S (2007). "The prion-like protein Doppel (Dpl) interacts with the human receptor for activated C-kinase 1 (RACK1) protein". Anticancer Res. 26 (6B): 4539–47. PMID17201176.