PMID: 9428799Jan 15, 1998Paper

Complete structure of the human gene for the vitamin D 1alpha-hydroxylase, P450c1alpha

DNA and Cell Biology
G K FuW L Miller

Abstract

The rate-limiting, hormonally regulated step in the biosynthesis of the biologically active form of vitamin D, 1,25(OH)2D, is its 1alpha-hydroxylation in the kidney by the mitochondrial P450 enzyme, P450c1alpha. We have recently cloned the human P450c1alpha cDNA and shown that this enzyme is the factor disrupted in vitamin D-dependent rickets, type 1 (VDDR-1). To facilitate the analysis of further patients with VDDR-1 and to permit studies of the regulation of the gene for P450c1alpha, we have used PCR-based tactics to clone the gene. Southern blotting studies indicate that there is only one copy of this gene in the human genome. The complete sequence of all exons and introns show that the gene consists of 9 exons spanning only 5 kb; the entire protein-coding region can be PCR-amplified as a single 4-kb fragment. The transcriptional start site, located by primer extension and S1 nuclease protection, lies 62-bp upstream from the ATG transitional start codon. Analysis of rodent/human somatic cell hybrid DNAs show that this gene lies on chromosome 12. Although the gene is substantially smaller than the human genes for other mitochondrial enzymes, its intron/exon organization is very similar, especially to that of P450scc. This ind...Continue Reading

References

Dec 1, 1992·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·M LabudaF H Glorieux
Oct 1, 1988·Proceedings of the National Academy of Sciences of the United States of America·S B SolishW L Miller
Dec 1, 1986·Proceedings of the National Academy of Sciences of the United States of America·B C ChungW L Miller
Apr 1, 1987·Journal of Biochemistry·K MorohashiY Fujii-Kuriyama
Nov 1, 1988·The American Journal of the Medical Sciences·M H Steinberg
Aug 1, 1988·Endocrine Reviews·W L Miller
Dec 1, 1988·The American Journal of the Medical Sciences·N A Breslau
Jun 1, 1986·Proceedings of the National Academy of Sciences of the United States of America·B C ChungW L Miller
Jul 19, 1994·Proceedings of the National Academy of Sciences of the United States of America·S M BlackW L Miller
May 1, 1993·Genomics·H L DrwingaR A Mulivor
Jan 1, 1996·Annual Review of Nutrition·C E Fardella, W L Miller

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Citations

Jun 28, 2005·Aging Clinical and Experimental Research·Florent RichyJean-Yves Reginster
Dec 5, 2003·Molecular Genetics and Metabolism·Chin Jia LinWalter L Miller
Aug 14, 2003·The Journal of Nutritional Biochemistry·L S ChavezJ L Omdahl
Jul 27, 1999·The Journal of Steroid Biochemistry and Molecular Biology·W L Miller, J F Strauss
Sep 21, 2000·Trends in Endocrinology and Metabolism : TEM·W L Miller, A A Portale
Dec 24, 2005·Proceedings of the National Academy of Sciences of the United States of America·Janeen L VanhookeHector F DeLuca
Jun 21, 2001·Proceedings of the National Academy of Sciences of the United States of America·D K PandaD Goltzman
Jun 9, 1999·Proceedings of the National Academy of Sciences of the United States of America·X F KongM F Holick
Aug 10, 1999·Current Opinion in Pediatrics·W L Miller, A A Portale
Jan 9, 2013·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·Daniel W NebertWalter L Miller
May 13, 1999·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·S J SmithE B Mawer
Jan 10, 2001·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·D K PandaD Goltzman
Sep 11, 2013·PloS One·Ankanee ChanakulFarzana Perwad
Mar 8, 2006·Clinical Chemistry and Laboratory Medicine : CCLM·Indra Ramasamy
Jul 12, 2002·Journal of Endocrinological Investigation·L PorcuP Moi
May 9, 2002·Drug Metabolism Reviews·Slobodan Rendic
Jan 7, 2016·Clinical Case Reports·Laila FüchtbauerAnja L Frederiksen
Mar 20, 2012·Archives of Biochemistry and Biophysics·Rajiv KumarJames R Thompson
Sep 15, 2011·Molecular and Cellular Endocrinology·Farzana Perwad, Anthony A Portale
Jul 1, 2004·The Journal of Steroid Biochemistry and Molecular Biology·Ivanka HendrixHoward Morris
Dec 28, 1999·Endocrinology and Metabolism Clinics of North America·W L Miller, A A Portale
Mar 4, 2008·Molecular and Cellular Endocrinology·Paul H AndersonHoward A Morris
Mar 19, 2011·The Journal of Pediatrics·Dror KoltinEtienne Sochett
Dec 5, 1998·American Journal of Human Genetics·J T WangW L Miller
Jul 27, 2001·Best Practice & Research. Clinical Endocrinology & Metabolism·W L Miller, A A Portale
Apr 20, 2011·Korean journal of pediatrics·Chan Jong Kim
Oct 10, 2002·Biochemical and Biophysical Research Communications·Hisao KasugaShigehisa Taketomi
Jan 10, 2003·Journal of Cellular Biochemistry·René St-ArnaudFrancis H Glorieux
Jun 11, 2010·The Journal of Clinical Endocrinology and Metabolism·Ali S AlzahraniYufei Shi
May 10, 2007·The Journal of Clinical Endocrinology and Metabolism·Chan Jong KimAnthony A Portale
Jul 12, 2016·The Journal of Clinical Endocrinology and Metabolism·Adam ZalewskiAmit V Pandey
Nov 8, 2013·Journal of Pediatric Endocrinology & Metabolism : JPEM·Wei-Wei HuZhen-Lin Zhang
Nov 22, 2007·The Journal of Nutrition·Matthew J RowlingJames C Fleet
Dec 31, 2010·The Journal of Immunology : Official Journal of the American Association of Immunologists·Sanhong Yu, Margherita T Cantorna
Oct 28, 1998·Physiological Reviews·G JonesH F DeLuca

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