Preiss, Scott; Argentaro, Anthony; Clayton, Andrew; John, Anna; Jans, David A; Ogata, Tsutomu; Nagai, Toshiro; Barroso, Ines; Schafer, Alan; Harding, Ruth E
Human mutations in the transcription factor SOX9 cause campomelic dysplasia/autosomal sex reversal. Here we identify and characterize two novel heterozygous mutations, F154L and A158T, that substitute conserved "hydrophobic core" amino acids of the high mobility group domain at positions thought to stabilize SOX9 conformation. Circular dichroism studies indicated that both mutations disrupt α-helicity within their high mobility group domain, whereas tertiary structure is essentially maintained...[Show more]
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