Comparative genetics of the poly-Q tract of ataxin-1 and its binding protein PQBP-1

Biochem Genet. 2012 Apr;50(3-4):309-17. doi: 10.1007/s10528-011-9473-1. Epub 2011 Oct 1.

Abstract

Human PQBP-1 is known to interact with triplet repeat disease gene products such as ataxin and huntingtin through their poly-glutamine (poly-Q) tracts. The poly-Q tracts show extensive variation in both the number and the configuration of repeats among species. A surface plasmon resonance assay showed clear interaction between human PQBP-1 and Q(11), representative of the poly-Q tract of the ataxin-1 of Old World monkeys. No response was observed using Q(2)PQ(2)P(4)Q(2), representative of the poly-Q tract of the ataxin-1 of New World monkeys. This implies that the interaction of human PQBP-1 with ataxin-1 is limited to humans and closely related species. Comparison of the human and mouse PQBP-1 sequences showed an elevated amino acid substitution rate in the polar amino acid-rich domain of PQBP-1 that is responsible for binding to poly-Q tracts. This could have been advantageous to the new biological function of human PQBP-1 through poly-Q tracts.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Motifs / genetics
  • Amino Acid Sequence
  • Amino Acid Substitution
  • Animals
  • Ataxin-1
  • Ataxins
  • Carrier Proteins / chemistry
  • Carrier Proteins / genetics*
  • DNA-Binding Proteins
  • Evolution, Molecular
  • Genetic Variation
  • Humans
  • Mice
  • Molecular Sequence Data
  • Nerve Tissue Proteins / chemistry
  • Nerve Tissue Proteins / genetics*
  • Nuclear Proteins / chemistry
  • Nuclear Proteins / genetics*
  • Primates / genetics
  • Protein Binding
  • Protein Structure, Tertiary
  • Sequence Homology, Amino Acid

Substances

  • ATXN1 protein, human
  • Ataxin-1
  • Ataxins
  • Atxn1 protein, mouse
  • Carrier Proteins
  • DNA-Binding Proteins
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • PQBP1 protein, human