Article
The cleidocranial dysplasia-related R131G mutation in the Runt-related transcription factor RUNX2 disrupts binding to DNA but not CBF-beta.
Journal of cellular biochemistry - 1 May 2010
Han Min-Su, Kim Hyo-Jin, Wee Hee-Jun, Lim Kyung-Eun, Park Na-Rae, Bae Suk-Chul, van Wijnen Andre J, Stein Janet L, Lian Jane B, Stein Gary S, Choi Je-Yong
Abstract excerpt
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, nuclear localization signal, and/or heterodimerization with...
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