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PMID:2849209
| Citation |
Hughes, MR, Malloy, PJ, Kieback, DG, Kesterson, RA, Pike, JW, Feldman, D and O'Malley, BW (1988) Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. Science 242:1702-5 |
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| Abstract |
Hypocalcemic vitamin D-resistant rickets is a human genetic disease resulting from target organ resistance to the action of 1,25-dihydroxyvitamin D3. Two families with affected children homozygous for this autosomal recessive disorder were studied for abnormalities in the intracellular vitamin D receptor (VDR) and its gene. Although the receptor displays normal binding of 1,25-dihydroxyvitamin D3 hormone, VDR from affected family members has a decreased affinity for DNA. Genomic DNA isolated from these families was subjected to oligonucleotide-primed DNA amplification, and each of the nine exons encoding the receptor protein was sequenced for a genetic mutation. In each family, a different single nucleotide mutation was found in the DNA binding domain of the protein; one family near the tip of the first zinc finger (Gly----Asp) and one at the tip of the second zinc finger (Arg----Gly). The mutant residues were created in vitro by oligonucleotide directed point mutagenesis of wild-type VDR complementary DNA and this cDNA was transfected into COS-1 cells. The produced protein is biochemically indistinguishable from the receptor isolated from patients. |
| Links | |
| Keywords |
Amino Acid Sequence; Animals; Binding Sites; Calcitriol/metabolism; Cell Line; Cell Line, Transformed; Codon; DNA/genetics; DNA/metabolism; Exons; Female; Gene Amplification; Homozygote; Humans; Hypocalcemia/genetics; Immunoblotting; Male; Molecular Sequence Data; Mutation; Receptors, Calcitriol; Receptors, Steroid/genetics; Receptors, Steroid/metabolism; Rickets/genetics; Transfection |
| edit table |
Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|
|
involved_in |
GO:0007165: signal transduction |
ECO:0000304: author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | |||
See also
References
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