Ataxia in prion protein (PrP)-deficient mice is associated with upregulation of the novel PrP-like protein doppel

J Mol Biol. 1999 Oct 1;292(4):797-817. doi: 10.1006/jmbi.1999.3108.

Abstract

The novel locus Prnd is 16 kb downstream of the mouse prion protein (PrP) gene Prnp and encodes a 179 residue PrP-like protein designated doppel (Dpl). Prnd generates major transcripts of 1.7 and 2.7 kb as well as some unusual chimeric transcripts generated by intergenic splicing with Prnp. Like PrP, Dpl mRNA is expressed during embryogenesis but, in contrast to PrP, it is expressed minimally in the CNS. Unexpectedly, Dpl is upregulated in the CNS of two PrP-deficient (Prnp(0/0)) lines of mice, both of which develop late-onset ataxia, suggesting that Dpl may provoke neurodegeneration. Dpl is the first PrP-like protein to be described in mammals, and since Dpl seems to cause neurodegeneration similar to PrP, the linked expression of the Prnp and Prnd genes may play a previously unrecognized role in the pathogenesis of prion diseases or other illnesses.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Motifs
  • Amino Acid Sequence
  • Animals
  • Ataxia / genetics*
  • Base Sequence
  • Cell Line
  • Central Nervous System / cytology
  • Central Nervous System / metabolism
  • Central Nervous System / pathology
  • Cloning, Molecular
  • Embryo, Mammalian / metabolism
  • GPI-Linked Proteins
  • Gene Deletion
  • Glycosylation
  • Male
  • Mice
  • Mice, Inbred BALB C
  • Mice, Transgenic
  • Molecular Sequence Data
  • Prions / chemistry
  • Prions / genetics*
  • Prions / metabolism
  • Prions / physiology
  • Purkinje Cells / metabolism
  • Purkinje Cells / pathology
  • RNA, Messenger / analysis
  • RNA, Messenger / genetics
  • Sequence Alignment
  • Trans-Splicing / genetics
  • Up-Regulation

Substances

  • GPI-Linked Proteins
  • Prions
  • Prnd protein, mouse
  • RNA, Messenger

Associated data

  • GENBANK/AF165165
  • GENBANK/AF165166
  • GENBANK/U29187