Mutant vitamin D receptors which confer hereditary resistance to 1, 25-dihydroxyvitamin D3 in humans are transcriptionally inactive in vitro
T Sone, RA Scott, MR Hughes, PJ Malloy… - Journal of Biological …, 1989 - ASBMB
Hereditary 1, 25-dihydroxyvitamin D 3-resistant rickets is a human syndrome that arises as a
result of heterogeneous molecular defects in the vitamin D 3 receptor. Recent studies have
identified single unique point mutations within the second or third exons that encode the
DNA-binding domain of the vitamin D receptor (VDR) gene in two families with this
syndrome. In the experiments reported here, these mutations were introduced into the
normal VDR cDNA by site-directed mutagenesis and the mutant products evaluated for …
result of heterogeneous molecular defects in the vitamin D 3 receptor. Recent studies have
identified single unique point mutations within the second or third exons that encode the
DNA-binding domain of the vitamin D receptor (VDR) gene in two families with this
syndrome. In the experiments reported here, these mutations were introduced into the
normal VDR cDNA by site-directed mutagenesis and the mutant products evaluated for …