A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets

Journal of Clinical Endocrinology and Metabolism

Volumn 81, Issue 7, 1996, Pages 2564-2569

  Lin, Nancy U T ^a   Malloy, Peter J ^a   Sakati, Nadia ^b   Al Ashwal, Abdullah ^b   Feldman, David ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITRIOL; CALCITRIOL RECEPTOR;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BINDING AFFINITY; CASE REPORT; CLINICAL FEATURE; DNA BINDING; DRUG RECEPTOR BINDING; EXON; GENE MUTATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; MALE; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SITE DIRECTED MUTAGENESIS; SKIN FIBROBLAST; VITAMIN D RESISTANT RICKETS;

BASE SEQUENCE; BINDING SITES; CALCITRIOL; CELLS, CULTURED; CHILD, PRESCHOOL; CHLORAMPHENICOL O-ACETYLTRANSFERASE; CONSANGUINITY; DNA; EXONS; HUMANS; HYPOPHOSPHATEMIA, FAMILIAL; MALE; MOLECULAR SEQUENCE DATA; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RECEPTORS, CALCITRIOL; RECOMBINANT FUSION PROTEINS; TRANSFECTION;

EID: 0029899163     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.81.7.2564     Document Type: Article

References (32)

1. 3 in normal physiology. Mol Cell Endocrinol. 72:C57-C62.
2. 3 receptor. J Recept Res. 11:699-716.
3. Marx SJ, Bliziotes MM, Nanes M. 1986 Analysis of the relation between alopecia and resistance to 1,25-dihydroxyvitamin D. Clin Endocrinol (Oxf). 25:373-381.
4. Hughes MR, Malloy PJ, Kieback DG, et al. 1988 Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. Science. 242:1702-1705.
5. 3-resistant rickets in three families. Proc Natl Acad Sci USA. 86:9783-9787.
6. 3 in humans are transcriptionally inactive in vitro. J Biol Chem. 264:20230-20234.
7. 3. Mol Endocrinol. 4:623-631.
8. Saijo T, Ito M, Takeda E, et al. 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.
9. Rut AR, Hewison M, Rowe P, Hughes M, Grant D, O'Riordan JLH. A novel mutation in the steroid binding region of the vitamin D receptor (VDR) gene in hereditary vitamin D resistant rickets (HVDRR). Proc of the 8th Workshop on Vitamin D. 1991;94-95.
10. Yagi H, Ozono K, Miyake H, Nagashima K, Kuroume T, Pike JW. 1993 A new point mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor in a kindred with hereditary 1,25-dihydroxyvitamin D-resistant rickets. J Clin Endocrinol Metab. 76:509-512.
11. 3. J Clin Invest. 92:12-16.
12. Wiese RJ, Goto H, Prahl JM, et al. 1993 Vitamin D-dependency rickets type II: truncated vitamin D receptor in three kindreds. Mol Cell Endocrinol. 90:197-201.
13. Malloy PJ, Weisman Y, Feldman D. 1994 Hereditary 1α,25-dihydroxyvitamin D-resistant rickets resulting from a mutation in the vitamin D receptor deoxyribonucleic acid-binding domain. J Clin Endocrinol Metab. 78:313-316.
14. Hewison M, Rut AR, Kristjansson K, et al. 1993 Tissue resistance to 1,25-dihydroxyvitamin D without a mutation of the vitamin D receptor gene. Clin Endocrinol (Oxf). 39:663-670.
15. Evans RM. 1988 The steroid and thyroid hormone receptor super family. Science. 240:889-895.
16. Baker AR, McDonnell DP, Hughes M, et al. 1988 Cloning and expression of full-length cDNA encoding human vitamin D receptor. Proc Natl Acad Sci USA. 85:3294-3298.
17. 3 receptor regulate osteocalcin gene expression. Mol Endocrinol. 3:635-644.
18. 3 hormone. In: Coe FL, Favus MJ, eds. Disorders of bone and mineral metabolism. New York: Raven Press; 163-193.
19. MacDonald PN, Dowd DR, Haussler MR. 1994 New insight into the structure and function of the vitamin D receptor. Semin Nephrol. 14:101-118.
20. 3 resistant rickets in seven related families. J Clin Invest. 86:2071-2079.
21. Sakati N, Woodhouse NJY, Niles N, Harfi H, de Grange DA, Marx S. 1986 Hereditary resistance to 1,25-dihydroxyvitamin D: clinical and radiological improvement during high-dose oral calcium therapy. Horm Res. 24:280-287.
22. Balsan S, Garabedian M, Larchet M, et al. 1986 Long-term nocturnal calcium infusions can cure rickets and promote normal mineralization in hereditary resistance to 1,25-dihydroxyvitamin D. J Clin Invest. 77:1661-1667.
23. Hochberg Z, Tiosano D, Even L. 1992 Calcium therapy for calcitriol-resistant rickets. J Pediatr. 121:803-808.
24. al-Aqeel A, Ozand F, Sobki S, Sewairi W, Marx S. 1993 The combined use of intravenous and oral calcium for the treatment of vitamin D dependent rickets type II (VDDRII). Clin Endocrinol (Oxf). 39:229-237.
25. Bradford MM. 1976 A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein dye binding. Anal Biochem. 72:248-254.
26. 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.
27. Rastinejad F, Perlmann T, Evans RM, Sigler PB. 1995 Structural determinants of nuclear receptor assembly on DNA direct repeats. Nature. 375:203-211.
28. Luisi BF, Xu WX, Otinowski Z, Freedman LP, Yamamoto KR, Sigler PB. 1991 Crystallographic analysis of the interaction of the glucocorticoid receptor with DNA. Nature. 352:497-505.
29. Zilliacus J, Wright A, Carlstedt-Duke J, Gustafsson J-A. 1995 Determinants of DNA-binding specificity by steroid receptors. Mol Endocrinol. 9:389-400.
30. Burns K, Duggan B, Atkinson EA, et al. 1994 Modulation of gene expression by calreticulin binding to the glucocorticoid receptor. Nature. 367:476-480.
31. Dedhar S, Rennie PS, Shago M, et al. 1994 Inhibition of nuclear hormone receptor activity by calreticulin. Nature. 367:480-483.
32. 3-induced gene transcription. J Bone Miner Res. 9:S145.