Mutations within helix I of Twist1 result in distinct limb defects and variation of DNA binding affinities.

@article{Firulli2007MutationsWH,
  title={Mutations within helix I of Twist1 result in distinct limb defects and variation of DNA binding affinities.},
  author={Beth A Firulli and Bradley A Redick and Simon J. Conway and Anthony B Firulli},
  journal={The Journal of biological chemistry},
  year={2007},
  volume={282 37},
  pages={27536-46}
}
Twist1 is a basic helix-loop-helix (bHLH) factor that plays an important role in limb development. Haploinsufficiency of Twist1 results in polydactyly via the inability of Twist1 to antagonistically regulate the related factor Hand2. The mechanism modulating Twist1-Hand2 antagonism is via phosphoregulation of conserved threonine and serine residues in helix I of the bHLH domain. Phosphoregulation alters the dimerization affinities for both proteins. Here we show that the expression of Twist1… CONTINUE READING

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