Vitamin D3-resistant fibroblasts have immunoassayable 1,25-dihydroxyvitamin D3 receptors

J. Wesley Pike, Shigeharu Dokoh, Mark R Haussler, Uri A. Liberman, Stephen J. Marx, E. I L Charles

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Abstract

Cultured fibroblasts obtained from patients with tissue resistance to 1,25-dihydroxyvitamin D3 (vitamin D3-dependent rickets, type II) contain normal, low, or undetectable concentrations of this hormone's receptor protein as measured by a ligand-binding assay. Extracts from these cells were evaluated for receptors by immunoassay with a recently developed monoclonal antibody to the chick receptor. The results show that a protein sedimenting at 3.7S and recognizable by the antibody exists in comparable concentrations in cells from both normal and resistant patients, irrespective of the hormone-binding abnormalities of the cells. This implies that deficiencies in hormone binding associated with inherited tissue resistance to 1,25-dihydroxyvitamin D3 probably arise from structural variations in the receptor molecule and not from defective receptor synthesis.

Original languageEnglish (US)
Pages (from-to)879-881
Number of pages3
JournalScience
Volume224
Issue number4648
Publication statusPublished - 1984

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Pike, J. W., Dokoh, S., Haussler, M. R., Liberman, U. A., Marx, S. J., & Charles, E. I. L. (1984). Vitamin D3-resistant fibroblasts have immunoassayable 1,25-dihydroxyvitamin D3 receptors. Science, 224(4648), 879-881.