The molecular basis of the undulated/Pax-1 mutation

Cell. 1991 Sep 6;66(5):873-84. doi: 10.1016/0092-8674(91)90434-z.


The murine paired box gene Pax-1 has been associated with the mouse developmental mutant undulated (un), which exhibits malformations in the vertebral column. In un mice, a point mutation leading to a Gly-Ser exchange in a conserved part of the paired domain of Pax-1 is present. Here we show that Pax-1 encodes a DNA-binding protein with transcriptional activating properties. The DNA-binding specificity of the Pax-1 protein has been extensively analyzed in gel shift assays, and in conjunction with binding interference experiments, a DNA-binding core motif was defined. Comparison of the DNA-binding properties of wild-type and un Pax-1 proteins demonstrates that the Gly-Ser replacement at position 15 within the paired domain dramatically decreases the DNA-binding affinity of the un Pax-1 protein and alters its DNA-binding specificity. These results decipher the molecular basis of the un mutation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alkylation
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Binding Sites
  • Cloning, Molecular
  • Computer Graphics
  • DNA / genetics
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Gene Expression Regulation
  • Mice
  • Models, Molecular
  • Molecular Sequence Data
  • Nucleic Acid Conformation
  • Oligonucleotides / chemistry
  • Oligonucleotides / metabolism
  • Paired Box Transcription Factors
  • Regulatory Sequences, Nucleic Acid
  • Restriction Mapping
  • Transcription Factors / genetics*
  • Transcription, Genetic


  • DNA-Binding Proteins
  • Oligonucleotides
  • Paired Box Transcription Factors
  • Transcription Factors
  • PAX1 transcription factor
  • DNA

Associated data

  • GENBANK/M60962
  • GENBANK/M64383
  • GENBANK/M64384
  • GENBANK/M69222
  • GENBANK/S44821
  • GENBANK/S54328
  • GENBANK/S54709
  • GENBANK/S54711
  • GENBANK/S56137
  • GENBANK/S56139