title: Human 25-hydroxyvitamin D 24-hydroxylase cytochrome P450 subunit maps to a different chromosomal location than that of pseudovitamin D-deficient rickets.
abstract: We have cloned part of the human 25-OHD 24-hydroxylase cytochrome P450 (P450cc24) cDNA. The characterized sequence consists of 776 bp of the coding and 720 bp of the 3'-untranslated region interrupted by an intron. In the coding region we found 79.8% similarity in DNA and 87.5% in deduced amino acid sequences between human and rat, with no similarity in the 3'-untranslated region. By Southern blot hybridization of DNA from human-hamster somatic cell hybrids and by in situ immunofluorescence hybridization, we mapped P450cc24 to human chromosome 20q13.1. This location of P450cc24 is different from that of pseudovitamin D-deficient rickets (PDDR), previously assigned to chromosome 12q14 by linkage analysis, thus excluding it as a target of the PDDR mutation. Since it is likely that PDDR is caused by a mutation in the 25-OHD 1 alpha-hydroxylase P450 subunit (P450cc1 alpha) our results do not support the hypothesis that the two cytochromes are encoded by a single gene.
authors.affiliation: Genetics Unit, Shriners Hospital for Crippled Children, Montréal, Québec, Canada.
authors.forename: M
authors.initials: M
authors.lastname: Labuda
authors.forename: N
authors.initials: N
authors.lastname: Lemieux
authors.forename: F
authors.initials: F
authors.lastname: Tihy
authors.forename: C
authors.initials: C
authors.lastname: Prinster
authors.forename: F H
authors.initials: FH
authors.lastname: Glorieux
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D006224:Cricetinae; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D051381:Rats; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D013250:Steroid Hydroxylases / Q000235:genetics*; D014808:Vitamin D Deficiency / Q000201:enzymology / Q000235:genetics*; D065668:Vitamin D3 24-Hydroxylase
chemical_list: D003577:Cytochrome P-450 Enzyme System; D013250:Steroid Hydroxylases; D065668:Vitamin D3 24-Hydroxylase