The DOI matches its Crossref record.
Targeted Inactivation of the 25-Hydroxyvitamin D3-1α-Hydroxylase Gene (CYP27B1) Creates an Animal Model of Pseudovitamin D-Deficiency Rickets*
Abstract
Pseudovitamin D-deficiency rickets is caused by mutations in the cytochrome P450 enzyme, 25-hydroxyvitamin D(3)-1alpha-hydroxylase (1alpha-OHase). Patients with the disease exhibit growth retardation, rickets, and osteomalacia. Serum biochemistry is characterized by hypocalcemia, secondary hyperparathyroidism, and undetectable levels of 1alpha,25-dihydroxyvitamin D(3). We have inactivated the 1alpha-OHase gene in mice after homologous recombination in embryonic stem cells. Serum analysis of homozygous mutant animals confirmed that they were hypocalcemic, hypophosphatemic, hyperparathyroidic, and that they had undetectable 1alpha,25-dihydroxyvitamin D(3). Histological analysis of the bones from 3-week-old mutant animals confirmed the evidence of rickets. At the age of 8 weeks, femurs from 1alpha-OHase-ablated mice present a severe disorganization in the architecture of the growth plate and marked osteomalacia. These results show that we have successfully inactivated the 1alpha-OHase gene in mice and established a valid animal model of pseudovitamin D-deficiency rickets.
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Cited by
Vitamin D and Human Health: Lessons from Vitamin D Receptor Null Mice
Bouillon, R., Carmeliet, G., Verlinden, L., van Etten, E., Verstuyf, A., Luderer, H. F., Lieben, L., Mathieu, C., & Demay, M. (2008) · Endocrine Reviews · doi:10.1210/er.2008-0004 · Cited by 1,783
1,25-Dihydroxyvitamin D3 is a negative endocrine regulator of the renin-angiotensin system
Li, Y. C., Kong, J., Wei, M., Chen, Z.-F., Liu, S. Q., & Cao, L.-P. (2002) · Journal of Clinical Investigation · doi:10.1172/jci0215219 · Cited by 1,625
Molecular Mechanisms of Vitamin D Action
Haussler, M. R., Whitfield, G. K., Kaneko, I., Haussler, C. A., Hsieh, D., Hsieh, J.-C., & Jurutka, P. W. (2013) · Calcified Tissue International · doi:10.1007/s00223-012-9619-0 · Cited by 759
The roles of vitamin D in skeletal muscle: form, function, and metabolism
Girgis, C. M., Clifton-Bligh, R. J., Hamrick, M. W., Holick, M. F., & Gunton, J. E. (2013) · Endocrine Reviews · doi:10.1210/er.2012-1012 · Cited by 567
Mukherji, A., Kobiita, A., Ye, T., & Chambon, P. (2013) · Cell · doi:10.1016/j.cell.2013.04.020 · Cited by 560
Ellison, T. I., Smith, M. K., Gilliam, A. C., & MacDonald, P. N. (2008) · Journal of Investigative Dermatology · doi:10.1038/jid.2008.131 · Cited by 159
Lee, S. M., & Pike, J. W. (2016) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2015.08.018 · Cited by 39
Metadata
- Authors
- Dardenne, O., Prud’homme, J., Arabian, A., Glorieux, F. H., & St-Arnaud, R.
- Venue
- Endocrinology
- Publisher
- The Endocrine Society
- Published
- 2001-07-01
- Volume
- 142
- Issue
- 7
- Pages
- 3135-3141
- ISSN
- 0013-7227 (ISSN-L)
- 1945-7170
- OpenAlex
- W2017290177
- Cited by
- 406
- References
- 0
- FWCI
- 12.46
- Type
- journal article
- Language
- en
- Open access
- closed
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