RGD Reference Report - Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. - Rat Genome Database

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Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets.

Authors: Hughes, MR  Malloy, PJ  Kieback, DG  Kesterson, RA  Pike, JW  Feldman, D  O'Malley, BW 
Citation: Hughes MR, etal., Science. 1988 Dec 23;242(4886):1702-5.
RGD ID: 1624354
Pubmed: PMID:2849209   (View Abstract at PubMed)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
rickets  IAGP 1624354VDDR II more ...RGD 
rickets  ISOVDR (Homo sapiens)1624354; 1624354VDDR II more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Vdr  (vitamin D receptor)

Genes (Mus musculus)
Vdr  (vitamin D (1,25-dihydroxyvitamin D3) receptor)

Genes (Homo sapiens)
VDR  (vitamin D receptor)


Additional Information