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J Steroid Biochem Mol Biol. 2007 Mar;103(3-5):361-7. Epub 2007 Feb 6.

Exons and functional regions of the human vitamin D receptor gene around and within the main 1a promoter are well conserved among mammals.

Author information

  • 1INSERM U561, Hôpital Saint Vincent de Paul, 82 Avenue Denfert-Rochereau, 75014 Paris, France. jehan@paris5.inserm.fr

Abstract

The human vitamin D receptor (hVDR) gene encompasses eight exons (2-9) in the so-called coding region and six more exons (1a-1f) in the so-called regulatory region, which contains several reported promoters. Evolutionary comparison performed on the VDR promoter sequences of a dozen of mammalian species shows a very high conservation of numerous regions around and in the 1a promoter, including exons 1e, 1a and 1d, and the Sp1 site region. This suggests that the so-called 1a promoter is well conserved among mammals. Homology among mammals also concerns three functional SNP site regions of the hVDR 1a promoter, the 1e-G-1739A SNP region (a Cdx-2 binding site), and both 1a-G-1521C and 1a-A-1012G sites, the 1a-1012A being located within a GATA site. Interestingly, the 1521G and 1012A nucleotides are being evolutionary conserved, suggesting that the 1521C/1012G haplotype, which is found in human chromosomes (43% of Caucasians), is a human specificity.

PMID:
17289378
DOI:
10.1016/j.jsbmb.2006.12.057
[PubMed - indexed for MEDLINE]
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