The vitamin D receptor gene start codon polymorphism: A functional analysis of FokI variants

Journal of Bone and Mineral Research

Volumn 13, Issue 11, 1998, Pages 1691-1699

  Gross, Coleman ^a   Krishnan, Aruna V ^a   Malloy, Peter J ^a   Eccleshall, T Ross ^a   Zhao, Xiao Yan ^a   Feldman, David ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITRIOL; MESSENGER RNA; OSTEOCALCIN; OSTEOPONTIN; OXYGENASE; RETINOID X RECEPTOR; TRITIUM; VITAMIN D RECEPTOR;

ANIMAL CELL; ARTICLE; BINDING AFFINITY; BONE DENSITY; FIBROBLAST CULTURE; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; HUMAN CELL; LIGAND BINDING; NONHUMAN; RECEPTOR GENE; REPORTER GENE; START CODON;

ANALYSIS OF VARIANCE; ANIMALS; BONE DENSITY; CELLS, CULTURED; CODON, INITIATOR; COS CELLS; DNA; FIBROBLASTS; GENES, REPORTER; GENOTYPE; HUMANS; IMMUNOBLOTTING; POLYMORPHISM, GENETIC; RECEPTORS, CALCITRIOL; TRANS-ACTIVATION (GENETICS);

EID: 0031751215     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.1998.13.11.1691     Document Type: Article

References (28)

1. Baker AR, McDonnell DP, Hughes M, Crisp TM, Mangelsdorf DJ, Haussler MR, Pike JW, Shine J, O'Malley BW 1988 Cloning and expression of full-length cDNA encoding human vitamin D receptor. Proc Natl Acad Sci USA 85:3294-3298.
2. Saijo T, Ito M, Takeda E, Huq AH, Naito E, Yokota I, Sone T, Pike JW, Kuroda Y 1991 A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: Utility of single-strand conformation polymorphism analysis for heterozygous carrier detection. Am J Hum Genet 49:668-673.
3. Gross C, Eccleshall TR, Malloy PJ, Villa ML, Marcus R, Feldman D 1996 The presence of a polymorphism at the translation initiation site of the vitamin D receptor gene is associated with low bone mineral density in postmenopausal Mexican-American women. J Bone Miner Res 11:1850-1855.
4. Harris SS, Eccleshall TR, Gross C, Dawson-Hughes B, Feldman D 1997 The vitamin D receptor start codon polymorphism (FokI) and bone mineral density in premenopausal American Black and White Women. J Bone Miner Res 12:1043-1048.
5. Arai H, Ken-Ichi M, Taketani Y, Yamamoto H, Iemori Y, Morita K, Tonai T, Nishisho T, Mori S, Takeda E 1997 A vitamin D receptor gene polymorphism in the translation initiation codon: Effect on protein activity and relation to bone mineral density in Japanese women. J Bone Miner Res 12: 915-921.
6. Eccleshall TR, Garnero P, Gross C, Delmas PD, Feldman D 1998 Lack of correlation between start codon polymorphism of the vitamin D receptor and bone mineral density in premenopausal French women: The OFELY study. J Bone Miner Res 13:31-35.
7. Sturzenbecker L, Scardaville B, Kratzeisen C, Katz M, Abarzua P, McLane J 1994 Isolation and analysis of cDNA encoding a naturally-occurring truncated form of the human vitamin D receptor. In: Bouillon R, Norman AW, Thomasset M (eds.) Vitamin D: A Pluripotent Steroid Hormone: Structural Studies, Molecular Endocrinology, and Clinical Applications. W. de Gruyter, New York, NY, U.S.A., pp. 112.
8. 3 resistant rickets in seven related families. J Clin Invest 86:2071-2079.
9. Malloy PJ, Hochberg Z, Pike JW, Feldman D 1989 Abnormal binding of vitamin D receptors to deoxyribonucleic acid in a kindred with vitamin D-dependent rickets, type II. J Clin Endocrinol Metab 68:263-269.
10. Arbour NC, Ross TK, Zierold C, Prahl JM, DeLuca HF 1998 A highly sensitive method for large-scale measurements of 1,25-dihydroxyvitamin D. Anal Biochem 255:148-154.
11. Krishnan A, Feldman D 1991 Activation of protein kinase-C inhibits vitamin D receptor gene expression. Mol Endocrinol 5:605-612.
12. Zhao X-Y, Eccleshall TR, Krishnan AV, Gross C, Feldman D 1997 Analysis of vitamin D analog-induced heterodimerization of vitamin D receptor with retinoid X receptor using the yeast two-hybrid system. Mol Endocrinol 11:366-378.
13. Malloy PJ, Eccleshall TR, Gross C, Van Maldergem L, Bouillon R, Feldman D 1997 Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness. J Clin Invest 99:297-304.
14. Hijiya N, Setoguchi M, Matsuura K, Higuchi Y, Akizuki S, Yamamato S 1994 Cloning and characterization of the human osteopontin gene and its promoter. Biochem J 303:255-262.
15. Gross C, Musiol IM, Eccleshall TR, Malloy PJ, Feldman D 1998 Vitamin D receptor gene polymorphisms: Analysis of ligand binding and hormone responsiveness in cultured skin fibroblasts. Biochem Biophys Res Commun 242:467-473.
16. 3 24-hydroxylase. FEBS Lett 278:195-198.
17. Seshedri T, Campisi J 1990 Repression of c-fos transcription and an altered genetic program in senescent human fibroblasts. Science 247:205-209.
18. 3 specifically induces its own metabolism in a human cancer cell line. Endocrinology 114: 1225-1231.
19. 3 in intact human cancer cells. Endocrinology 116:971-977.
20. Krishnan AV, Feldman D 1997 Regulation of Vitamin D Receptor Abundance. In: Feldman D, Glorieux FH, Pike JW (eds.) Vitamin D. Academic Press, San Diego, CA, U.S.A., pp. 179-200.
21. Morrison NA, Yeoman R, Kelly PJ, Eisman JA 1992 Contribution of trans-acting factor alleles to normal physiological variability: Vitamin D receptor gene polymorphism and circulating osteocalcin. Proc Natl Acad Sci USA 89:6665-6669.
22. Morrison NA, Qi JC, Tokita A, Kelly PJ, Crofts L, Nguyen TV, Sambrook PN, Eisman JA 1994 Prediction of bone density from vitamin D receptor alleles. Nature 367:284-287.
23. Barger-Lux MJ, Heaney RP, Hayes J, DeLuca HF, Johnson ML, Gong JG 1995 Vitamin D receptor gene polymorphism, bone mass, body size, and vitamin D receptor density. Calcif Tissue Int 57:161-162.
24. Mocharla H, Butch AW, Pappas AA, Flick JT, Weinstein RS, De Tongi P, Jilka RL, Roberson PK, Parfitt AM, Manolagas SC 1997 Quantification of vitamin D receptor mRNA by competitive polymerase chain reaction in PBMC: lack of correspondence with common allelic variants. J Bone Miner Res 12:726-733.
25. Verbeek W, Gombart AF, Shiohara M, Campbell M, Koeffler HP 1997 Vitamin D receptor: No evidence for allele-specific mRNA stability in cells which are heterozygous for the Taq I restriction enzyme polymorphism. Biochem Biophys Res Commun 238:77-80.
26. 3) 24-hydroxylase gene. Proc Natl Acad Sci USA 91: 900-902.
27. Sone T, Kerner S, Pike JW 1991 Vitamin D receptor interaction with specific DNA. Association as a 1,25-dihydroxyvitamin D3-modulated heterodimer. J Biol Chem 266:23296-23305.
28. Pike JW 1997 The vitamin D receptor and its gene. In: Feldman D, Glorieux FH, Pike JW (eds.) Vitamin D. Academic Press, San Diego, CA, U.S.A., pp. 105-125.