Human mutations in the transcription factorSOX9 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 as judged by fluorescence …