The cleidocranial dysplasia-related R131G mutation in the Runt-related transcription factor RUNX2 disrupts binding to DNA but not CBF-beta.

@article{Han2010TheCD,
  title={The cleidocranial dysplasia-related R131G mutation in the Runt-related transcription factor RUNX2 disrupts binding to DNA but not CBF-beta.},
  author={Min-Su Han and Hyo-jin Kim and Hee-Jun Wee and K E Lim and Na-Rae Park and S C Bae and Andre J van Wijnen and Janet L Stein and Jane B Lian and Gary S Stein and J. -H. Choi},
  journal={Journal of cellular biochemistry},
  year={2010},
  volume={110 1},
  pages={97-103}
}
Cleidocranial dysplasia (CCD) is caused by haploinsufficiency in RUNX2 function. We have previously identified a series of RUNX2 mutations in Korean CCD patients, including a novel R131G missense mutation in the Runt-homology domain. Here, we examine the functional consequences of the RUNX2(R131G) mutation, which could potentially affect DNA binding… CONTINUE READING