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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
6
|
| pubmed:dateCreated |
1997-8-12
|
| pubmed:abstractText |
The effect of a T-C transition polymorphism at the translation initiation codon of the human vitamin D receptor (VDR) gene on the biological function of the encoded protein was investigated. Of 239 Japanese women volunteers subjected to genotype analysis for this polymorphism, 32 (13%) were genotype MM (the M allele is ATG at the putative translation start site), 75 (31%) were genotype mm (the m allele is ACG at the putative translation start site), and 132 (55%) were genotype Mm. The bone mineral density (BMD) in the lumbar spine (L2-L4) was determined for 110 healthy premenopausal women from the volunteers and was shown to be 12.0% greater (p < 0.05) for mm homozygotes than for MM homozygotes. Synthesis of the proteins by the M and m alleles from the cloned cDNAs in vitro and in transfected COS-7 cells revealed them to have a size of 50 and 49.5 kD, respectively, as determined by sodium dodecyl sulfate polyacrylamide gel electrophoresis. This size difference is consistent with initiation of translation of the M allele-encoded protein from an ATG codon located at nucleotides +10 to +12 in the conventional open reading frame. The extent of vitamin D-dependent transcriptional activation of a reporter construct under the control of a vitamin D response element in transfected HeLa cells was approximately 1.7-fold greater for the m type VDR than for the M type protein. These results suggest that the polymorphism at the translation start site of the VDR gene may modulate BMD in premenopausal Japanese women.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jun
|
| pubmed:issn |
0884-0431
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
12
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
915-21
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:9169350-Adult,
pubmed-meshheading:9169350-Aged,
pubmed-meshheading:9169350-Alleles,
pubmed-meshheading:9169350-Animals,
pubmed-meshheading:9169350-Base Sequence,
pubmed-meshheading:9169350-Bone Density,
pubmed-meshheading:9169350-COS Cells,
pubmed-meshheading:9169350-Codon, Initiator,
pubmed-meshheading:9169350-DNA,
pubmed-meshheading:9169350-Exons,
pubmed-meshheading:9169350-Female,
pubmed-meshheading:9169350-Gene Frequency,
pubmed-meshheading:9169350-Genotype,
pubmed-meshheading:9169350-HeLa Cells,
pubmed-meshheading:9169350-Humans,
pubmed-meshheading:9169350-Japan,
pubmed-meshheading:9169350-Middle Aged,
pubmed-meshheading:9169350-Molecular Sequence Data,
pubmed-meshheading:9169350-Polymorphism, Genetic,
pubmed-meshheading:9169350-Receptors, Calcitriol,
pubmed-meshheading:9169350-Transfection
|
| pubmed:year |
1997
|
| pubmed:articleTitle |
A vitamin D receptor gene polymorphism in the translation initiation codon: effect on protein activity and relation to bone mineral density in Japanese women.
|
| pubmed:affiliation |
Department of Clinical Nutrition, School of Medicine, Tokushima University, Japan.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|