PMID- 11377830
OWN - NLM
STAT- MEDLINE
DCOM- 20011228
LR  - 20220408
IS  - 0303-7207 (Print)
IS  - 0303-7207 (Linking)
VI  - 177
IP  - 1-2
DP  - 2001 May 25
TI  - Functionally relevant polymorphisms in the human nuclear vitamin D receptor gene.
PG  - 145-59
AB  - The functional significance of two unlinked human vitamin D receptor (hVDR) gene 
      polymorphisms was evaluated in twenty human fibroblast cell lines. Genotypes at 
      both a Fok I restriction site (F/f) in exon II and a singlet (A) repeat in exon 
      IX (L/S) were determined, and relative transcription activities of endogenous 
      hVDR proteins were measured using a transfected, 1,25-dihydroxyvitamin 
      D(3)-responsive reporter gene. Observed activities ranged from 2--100-fold 
      induction by hormone, with higher activity being displayed by the F and the L 
      biallelic forms. Only when genotypes at both sites were considered simultaneously 
      did statistically significant differences emerge. Moreover, the correlation 
      between hVDR activity and genotype segregated further into clearly defined high 
      and low activity groups with similar genotypic distributions. These results not 
      only demonstrate functional relevance for both the F/f and L/S common 
      polymorphisms in hVDR, but also provide novel evidence for a third genetic 
      variable impacting receptor potency.
FAU - Whitfield, G K
AU  - Whitfield GK
AD  - Department of Biochemistry, College of Medicine, 1501 N. Campbell Ave., 
      University of Arizona, Tucson, AZ 85724, USA.
FAU - Remus, L S
AU  - Remus LS
FAU - Jurutka, P W
AU  - Jurutka PW
FAU - Zitzer, H
AU  - Zitzer H
FAU - Oza, A K
AU  - Oza AK
FAU - Dang, H T
AU  - Dang HT
FAU - Haussler, C A
AU  - Haussler CA
FAU - Galligan, M A
AU  - Galligan MA
FAU - Thatcher, M L
AU  - Thatcher ML
FAU - Encinas Dominguez, C
AU  - Encinas Dominguez C
FAU - Haussler, M R
AU  - Haussler MR
LA  - eng
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Ireland
TA  - Mol Cell Endocrinol
JT  - Molecular and cellular endocrinology
JID - 7500844
RN  - 0 (Protein Isoforms)
RN  - 0 (Receptors, Calcitriol)
RN  - 0 (Receptors, Cytoplasmic and Nuclear)
SB  - IM
MH  - Alleles
MH  - Cell Line
MH  - Fibroblasts/cytology
MH  - Gene Frequency
MH  - Genes, Reporter
MH  - Genotype
MH  - Humans
MH  - Polymorphism, Genetic/physiology
MH  - Protein Isoforms/genetics/metabolism
MH  - Receptors, Calcitriol/*genetics/*metabolism
MH  - Receptors, Cytoplasmic and Nuclear/genetics/metabolism
MH  - Transcriptional Activation/genetics
MH  - Transfection
EDAT- 2001/05/30 10:00
MHDA- 2002/01/05 10:01
CRDT- 2001/05/30 10:00
PHST- 2001/05/30 10:00 [pubmed]
PHST- 2002/01/05 10:01 [medline]
PHST- 2001/05/30 10:00 [entrez]
AID - S0303720701004063 [pii]
AID - 10.1016/s0303-7207(01)00406-3 [doi]
PST - ppublish
SO  - Mol Cell Endocrinol. 2001 May 25;177(1-2):145-59. doi: 
      10.1016/s0303-7207(01)00406-3.