A connexin-32 mutation associated with Charcot-Marie-Tooth disease does not affect channel formation in oocytes

FEBS Lett. 1994 Aug 29;351(1):90-4. doi: 10.1016/0014-5793(94)00819-1.

Abstract

Members of the connexin family differ most in their carboxy-termini, both with respect to sequence and length. In order to assess the contribution of this region to channel function, a series of carboxy-terminal deletion mutants were tested in the paired-oocyte expression system. Connexin-32 can be truncated by 64 amino acids without detectable loss of its known channel properties. Removal of additional amino acids results in a progressive loss of function over a stretch of 4 amino acids. In addition to this effect of length the charge of the carboxy-terminus appears to be another determinant of channel function. One of the fully functional deletion mutants, carrying a stop codon after amino acid-219, had been reported to be associated with Charcot-Marie-Tooth disease. The implications of this finding are discussed.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Charcot-Marie-Tooth Disease / genetics*
  • Connexins / genetics*
  • Connexins / metabolism
  • Gap Junction beta-1 Protein
  • Gap Junctions / metabolism
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Oocytes

Substances

  • Connexins