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• W1995580938 endingPage "631" @default.
• W1995580938 startingPage "623" @default.
• W1995580938 abstract "The syndrome of hereditary resistance to 1,25-dihydroxyvitamin D3 is due to defective function of the vitamin D receptor (VDR). The recent cloning and nucleotide sequence determination of the human VDR chromosomal gene have enabled a direct evaluation of the genetic basis for this disease in affected patients. In this report we employed polymerase chain reaction techniques to amplify the gene exons that encode the DNA-binding domain of the VDR from two 1,25-dihydroxyvitamin D3-resistant patients whose receptors displayed defective binding to nonspecific DNA. Although their families were apparently unrelated, each patient displayed an identical homozygous point mutation within the third exon, a mutation that causes substitution of a glutamine for an arginine residue highly conserved within the entire steroid receptor superfamily. We introduced this base change into the normal VDR cDNA via site-directed mutagenesis, transfected an expression vector containing this cDNA into cells, and examined the functional properties of the resultant VDR expression product. The produced mutant receptor bound 1,25-dihydroxy vitamin D3 with normal affinity, but displayed weak affinity for the nuclear fraction and for heterologous DNA. More importantly, the protein was inactive in promoting transcription in a cotransfection assay employing a chloramphenicol acetyltransferase gene reporter fused down-stream of the VDR-inducible osteocalcin gene promoter-enhancer. These results provide the genetic and functional basis for the phenotype of rickets in this inherited disease." @default.
• W1995580938 created "2016-06-24" @default.
• W1995580938 creator A5012809776 @default.
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• W1995580938 creator A5082886875 @default.
• W1995580938 creator A5084978531 @default.
• W1995580938 date "1990-04-01" @default.
• W1995580938 modified "2023-10-11" @default.
• W1995580938 title "A Unique Point Mutation in the Human Vitamin D Receptor Chromosomal Gene Confers Hereditary Resistance to 1,25-Dihydroxyvitamin D₃" @default.
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• W1995580938 doi "https://doi.org/10.1210/mend-4-4-623" @default.
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