DNA binding and transcriptional properties of wild-type and mutant forms of the homeodomain protein Msx2

Gregg L. Semenza, Guang L. Wang, Ramendra Kundu

Research output: Contribution to journalArticle

Abstract

Msx2 is a mammalian homeodomain protein that is expressed during craniofacial development. A proline-to-histidine substitution at residue 148 of human Msx2 results in an autosomal dominant form of craniosynostosis. In this study, both wild-type and mutant Msx2 were shown to specifically bind to a DNA sequence previously identified as a high affinity binding site for the related homeodomain protein Msx1. In co-transfection assays both wild-type and mutant Msx2 repressed reporter gene transcription in a dose-dependent but binding-site-independent manner. These results provide evidence that Msx2 is a transcriptional repressor and mutant form of Msx2 may exert its pathophysiologic effects on craniofacial a gain-of-function mechanism.

Original languageEnglish (US)
Pages (from-to)257-262
Number of pages6
JournalBiochemical and Biophysical Research Communications
Volume209
Issue number1
DOIs
StatePublished - Apr 6 1995

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

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