Computational modeling of the bHLH domain of the transcription factor TWIST1 and R118C, S144R and K145E mutants.

ABSTRACT:

Background

Human TWIST1 is a highly conserved member of the regulatory basic helix-loop-helix (bHLH) transcription factors. TWIST1 forms homo- or heterodimers with E-box proteins, such as E2A (isoforms E12 and E47), MYOD and HAND2. Haploinsufficiency germ-line mutations of the twist1 gene in humans are the main cause of Saethre-Chotzen syndrome (SCS), which is characterized by limb abnormalities and premature fusion of cranial sutures. Because of the importance of TWIST1 in the regulation of embryonic development and its relationship with SCS, along with the lack of an experimentally solved 3D structure, we performed comparative modeling for the TWIST1 bHLH region arranged into wild-type homodimers and heterodimers with E47. In addition, three mutations that promote DNA binding fai

SUBMITTER: Maia AM 

PROVIDER: S-EPMC3507644 | biostudies-literature | 2012 Jul

REPOSITORIES: biostudies-literature