Genetics of vitamin D 1α-hydroxylase deficiency in 17 families

American Journal of Human Genetics

Volumn 63, Issue 6, 1998, Pages 1694-1702

  Wang, Jonathan T ^a,b   Lin, Chin Jia ^a,b   Burridge, Sandra M ^a,b   Fu, Glenn K ^a,b   Labuda, Malgorzata ^c   Portale, Anthony A ^a   Miller, Walter L ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c Ctr de Rech Louis Charles Simard   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450; OXYGENASE;

ADOLESCENT; ARTICLE; CHILD; CHROMOSOME 12Q; CLINICAL ARTICLE; ENZYME DEFICIENCY; FAMILY STUDY; GENE DUPLICATION; GENETIC LINKAGE; HUMAN; INFANT; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; RICKETS; SCHOOL CHILD;

EID: 0032471514     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302156     Document Type: Article

References (46)

1. Braman J, Papworth C, Greener A (1996) Site-directed mutagenesis using double-stranded plasmid DNA templates. Methods Mol Biol 57:31-44
2. Brentano ST, Black SM, Lin D, Miller WL (1992) cAMP post-transcriptionally diminishes the abundance of adrenodoxin reductase mRNA. Proc Natl Acad Sci USA 89:4099-4103
3. 3 synthesis in the kidney. Nature 276: 287-289
4. Cali JJ, Russell DW (1991) Characterization of human sterol 27-hydroxylase: a mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis. J Biol Chem 266:7774-7778
5. Chang C-Y, Wu D-A, Lai C-C, Miller WL, Chung B (1988) Cloning and structure of the human adrenodoxin gene. DNA 7:609-615
6. 3 24-hydroxylase cDNA. Proc Natl Acad Sci USA 90:4543-4547
7. Cheng S, Fockler C, Barnes WM, Higuchi R (1994) Effective amplification of long targets from cloned inserts and human genomic DNA. Proc Natl Acad Sci USA 91:5695-5699
8. Chung B, Matteson KJ, Voutilainen R, Mohandas TK, Miller WL (1986) Human cholesterol side-chain cleavage enzyme, P450scc: cDNA cloning, assignment of the gene to chromosome 15, and expression in the placenta. Proc Natl Acad Sci USA 83:8962-8966
9. Conte FA, Grumbach MM, Ito Y, Fisher CR, Simpson ER (1994) A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom). J Clin Endocrinol Metab 78: 1287-1292
10. Cupp-Vickery JR, Poulos TL (1995) Structure of cytochrome P450eryF involved in erythromycin biosynthesis. Nat Struct Biol 2:144-153
11. De Braekeleer M (1991) Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). Hum Hered 41:141-146
12. Delvin EE, Glorieux FH, Marie PJ, Pettifor JM (1981) Vitamin D dependency: replacement therapy with calcitrol. J Pediatr 99:26-34
13. Fardella CE, Hum DW, Homoki J, Miller WL (1994) Point mutation Arg440 to His in cytochrome P450c17 causes severe 17α-hydroxylase deficiency. J Clin Endocrinol Metab 79:160-164
14. Fardella CE, Hum DW, Rodriguez H, Zhang G, Barry F, Bloch CA, Miller WL (1996) Gene conversion in the CYP11B2 gene encoding aldosterone synthase (P450c11AS) is associated with, but does not cause, the syndrome of corticosterone methyl oxidase II deficiency. J Clin Endocrinol Metab 81:321-326
15. Feldman D, Malloy PJ, Gross C (1996) Vitamin D: metabolism and action. In: Marcus R, Feldman D, Kelsey J (eds) Osteoporosis. Academic Press, San Diego, pp 205-235
16. Forsayeth JR, Garcia PD (1994) Adenovirus-mediated transfection of cultured cells. BioTechniques 17:354-359
17. Fraser DR, Kodicek E (1970) Unique biosynthesis by kidney of a biologically active vitamin D metabolite. Nature 228: 764-766
18. Fraser DR, Kooh SW, Kind HP, Holick MF, Tanaka Y, DeLuca HF (1973) Pathogenesis of hereditary vitamin-D-dependent rickets: an inborn error vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1α,25-dihydroxyvitamin D. N Engl J Med 289:817-822
19. Fu GK, Lin D, Zhang MYH, Bikle DD, Shackleton CHL, Miller WL, Portale AA (1997a) Cloning of human 25-hydroxy vitamin D-1α-hydroxylase and mutations causing vitamin D-dependent rickets type I. Mol Endocrinol 11:1961-1970
20. Fu GK, Portale AA, Miller WL (1997b) Complete structure of the human gene for the vitamin D 1α-hydroxyase, P450c1α. DNA Cell Biol 16:1499-1507
21. Gyapay G, Morisette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S (1994) The 1993-1994 Généthon human genetic linkage map. Nat Genet 7:246-339
22. Hasemann CA, Kurumbail RG, Boddupalli SS, Peterson JA, Deisenhofer J (1995) Structure and function of cytochromes P450: a comparative analysis of three crystal structures. Structure 3:41-62
23. Hasemann CA, Ravichandran KG, Peterson JA, Deisenhofer J (1994) Crystal structure and refinement of cytochrome P450terp at 2.3 Å resolution. J Mol Biol 236:1169-1185
24. Kawashima H, Torikai S, Kurokawa K (1981) Localization of 25-hydroxyvitamin D 1α-hydroxylase and 24-hydroxylase along the rat nephron. Proc Natl Acad Sci USA 78: 1199-1203
25. 3 1α-hydroxylase gene in patients with pseudovitamin D-deficiency rickets. N Engl J Med 338:653-661
26. Kneller DG, Cohen FE, Langridge R (1990) Improvements in protein secondary structure prediction by an enhanced neural network. J Mol Biol 214:171-182
27. Labuda M, Labuda D, Korab-Laskowska M, Cole DEC, Zietkiewicz E, Weissenbach J, Popowska E, et al. (1996) Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians. Am J Hum Genet 59:633-643
28. Labuda M, Morgan K, Glorieux FH (1990) Mapping autosomal recessive vitamin D dependency type 1 to chromosomal 12q14 by linkage analysis. Am J Hum Genet 47: 28-36
29. Lin D, Shi Y, Miller WL (1990) Cloning and sequence of the human adrenodoxin reductase gene. Proc Natl Acad Sci USA 87:8516-8520
30. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
31. Miller WL (1988) Molecular biology of steroid hormone synthesis. Endocr Rev 9:295-318
32. 3 1α-hydroxylase. Biochem Biophys Res Commun 239:527-533
33. Mornet E, Dupont J, Vitek A, White PC (1989) Characterization of two genes encoding human steroid 11/3-hydroxylase (P45011β). J Biol Chem 264:20961-20967
34. Morohashi K, Sogawa K, Omura T, Fujii-Kuriyama Y (1987) Gene structure of human cytochrome P-450(scc), cholesterol desmolase. J Biochem 101:879-887
35. 3 24-hydroxylase. FEBS Lett 278:195-198
36. Picado-Leonard J, Voutilainen R, Kao L, Chung B, Strauss JF III, Miller WL (1988) Human adrenodoxin: cloning of three cDNAs and cycloheximide enhancement in JEG-3 cells. J Biol Chem 263:3240-3244, erratum 11016
37. Poulos TL, Finzel BC, Howard AJ (1987) High-resolution crystal structure of cytochrome P450cam. J Mol Biol 195: 687-700
38. 3 dosage. Endokrynologia Polska 43:145-151
39. Ravichandran KG, Boddupalli SS, Hasemann CA, Peterson JA, Deisenhofer J (1993) Crystal structure of hemoprotein domain of P450BM-3, a prototype for microsomal P450's. Science 261:731-736
40. Reinhardt TA, Horst RL, Orf JW, Hollis BW (1984) A microassay for 1,25 dihydroxyvitamin D not requiring high performance liquid chromatography: application to clinical studies. J Clin Endocrinol Metab 58:91-98
41. Scriver CR, Reade TM, DeLuca HF, Hamstra AJ (1978) Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease. N Engl J Med 299:976-979
42. Solish SB, Picado-Leonard J, Morel Y, Kuhn RW, Mohandas TK, Hanukoglu I, Miller WL (1988) Human adrenodoxin reductase: two mRNAs encoded by a single gene of chromosome 17cen→q25 are expressed in steroidogenic tissues. Proc Natl Acad Sci USA 85:7104-7108
43. St-Arnaud R, Messerlian S, Moir JM, Omdahl JL, Glorieux FH (1997) The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-deficiency tickets (PDDR) disease locus. J Bone Miner Res 12:1552-1559
44. Strewler GJ, Rosenblatt M (1995) Mineral metabolism. In: Felig P, Baxter JD, Frohman LA (eds) Endocrinology and metabolism. McGraw-Hill, New York, pp 1407-1516
45. 3: gonadotropic regulation of the cognate mRNA in ovaries. DNA Cell Biol 9:657-665
46. 3 25-hydroxylase from rat liver mitochondria. FEBS Lett 262:135-138