Single A326G mutation converts human CYP24A1 from 25-OH-D3-24-hydroxylase into -23-hydroxylase, generating 1alpha,25-(OH)2D3-26,23-lactone

Proc Natl Acad Sci U S A. 2007 Jul 31;104(31):12673-8. doi: 10.1073/pnas.0702093104. Epub 2007 Jul 23.

Abstract

Studies of 25-hydroxyvitamin D(3)-24-hydroxylase (CYP24A1) have demonstrated that it is a bifunctional enzyme capable of the 24-hydroxylation of 1alpha,25-(OH)(2)D(3), leading to the excretory form, calcitroic acid, and 23-hydroxylation, culminating in 1alpha,25-(OH)(2)D(3)-26,23-lactone. The degree to which CYP24A1 performs either 23- or 24-hydroxylation is species-dependent. In this paper, we show that the human enzyme that predominantly 24-hydroxylates its substrate differs from the opossum enzyme that 23-hydroxylates it at only a limited number of amino acid residues. Mutagenesis of the human form at a single substrate-binding residue (A326G) dramatically changes the regioselectivity of the enzyme from a 24-hydroxylase to a 23-hydroxylase, whereas other modifications have no effect. Ala-326 is located in the I-helix, close to the terminus of the docked 25-hydroxylated side chain in a CYP24A1 homology model, a result that we interpret indicates that substitution of a glycine at 326 provides extra space for the side chain of the substrate to move deeper into the pocket and place it in a optimal stereochemical position for 23-hydroxylation. We discuss the physiological ramifications of these results for species possessing the A326G substitution, as well as implications for optimal vitamin D analog design.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alanine / genetics
  • Alanine / metabolism*
  • Amino Acid Sequence
  • Animals
  • Calcitriol / analogs & derivatives*
  • Calcitriol / chemistry
  • Calcitriol / metabolism
  • Catalysis
  • Cell Line
  • Chromatography, High Pressure Liquid
  • Conserved Sequence
  • Cricetinae
  • Cricetulus
  • Gene Expression Regulation
  • Glycine / genetics
  • Glycine / metabolism*
  • Humans
  • Mass Spectrometry
  • Models, Molecular
  • Molecular Sequence Data
  • Molecular Structure
  • Mutation / genetics
  • Sequence Alignment
  • Steroid Hydroxylases / chemistry
  • Steroid Hydroxylases / genetics
  • Steroid Hydroxylases / metabolism*
  • Substrate Specificity
  • Vitamin D3 24-Hydroxylase

Substances

  • 1,25-dihydroxyvitamin D3-26,23-lactone
  • Steroid Hydroxylases
  • CYP24A1 protein, human
  • Vitamin D3 24-Hydroxylase
  • Calcitriol
  • Alanine
  • Glycine