A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals.

@article{Elanko2001ASO,
  title={A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals.},
  author={Navaratnam Elanko and Julie Sibbring and Kay.A. Metcalfe and Jill Clayton-Smith and Dian Donnai and Isabel Karen Temple and Steven A. Wall and Andrew O M Wilkie},
  journal={Human mutation},
  year={2001},
  volume={18 6},
  pages={535-41}
}
The human TWIST gene encodes a 202 amino acid transcription factor characterized by a highly conserved basic-helix-loop-helix motif in the C-terminal half, and a less conserved N-terminal half that has binding activity toward the histone acetyltransferase p300. Between these domains is a repeat region of unknown function that encodes the glycine-rich sequence (Gly)5Ala(Gly)5. Heterozygous mutations of TWIST were previously described in Saethre-Chotzen craniosynostosis syndrome [El Ghouzzi et al… CONTINUE READING