Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia
S McDowall, A Argentaro, S Ranganathan… - Journal of Biological …, 1999 - ASBMB
In humans, mutations in SOX9 result in a skeletal malformation syndrome, campomelic
dysplasia (CD). The present study investigated two major classes of CD mutations: 1) point
mutations in the high mobility group (HMG) domain and 2) truncations and frameshifts that
alter the C terminus of the protein. We analyzed the effect of one novel mutation and three
other point mutations in the HMG domain of SOX9 on the DNA binding and DNA bending
properties of the protein. The F12L mutant HMG domain shows negligible DNA binding, the …
dysplasia (CD). The present study investigated two major classes of CD mutations: 1) point
mutations in the high mobility group (HMG) domain and 2) truncations and frameshifts that
alter the C terminus of the protein. We analyzed the effect of one novel mutation and three
other point mutations in the HMG domain of SOX9 on the DNA binding and DNA bending
properties of the protein. The F12L mutant HMG domain shows negligible DNA binding, the …
