G. Anand et al., RHABDOMYOSARCOMAS DO NOT CONTAIN MUTATIONS IN THE DNA-BINDING DOMAINSOF MYOGENIC TRANSCRIPTION FACTORS, The Journal of clinical investigation, 93(1), 1994, pp. 5-9
Skeletal myogenesis is regulated by a group of transcription factors (
MyoD, myogenin, myf5, and myf6) that are ''basic helix-loop-helix'' pr
oteins that bind to the promoters of muscle-specific genes and promote
their expression. We have previously shown that after a mutation of L
eu(122) to Arg the DNA binding basic domain of MyoD confers c-myc-like
functional characteristics to the protein. in this study we used sing
les-strand conformation polymorphism analysis to determine whether suc
h mutations occur naturally in rhabdomyosarcomas. We have found that t
he basic domains of all the myogenic factors remain unaltered in rhabd
omyosarcomas. Selection against such mutations may be the result of fu
nctional redundancy of these myogenic transcription factors.