Corrupted DNA-binding specificity and ectopic transcription underpin dominant neomorphic mutations in KLF/SP transcription factors.
Melissa D IlsleyStephen HuangGraham W MagorMichael J LandsbergKevin R GillinderAndrew C PerkinsPublished in: BMC genomics (2019)
Since all KLF/SP family proteins bind DNA in an identical fashion, these results are likely to be generally applicable to mutations in all family members. Importantly, they explain how certain mutations in the DNA-binding domain of transcription factors can generate neomorphic functions that result in autosomal dominant disease.