Send to

Choose Destination
Biochem Biophys Res Commun. 1995 Apr 6;209(1):257-62.

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

Author information

Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287-3914, USA.


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 suggest that the mutant form of Msx2 may exert its pathophysiologic effects on craniofacial development by a gain-of-function mechanism.

[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center