Premium
The Human Vitamin D Receptor Gene ( VDR ) Is Localized to Region 12cen‐q12 by Fluorescent In Situ Hybridization and Radiation Hybrid Mapping: Genetic and Physical VDR Map
Author(s) -
Taymans Susan E.,
Pack Svetlana,
Pak Evgenia,
Orban Zsolt,
Barsony Julia,
Zhuang Zhengping,
Stratakis Constantine A.
Publication year - 1999
Publication title -
journal of bone and mineral research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.882
H-Index - 241
eISSN - 1523-4681
pISSN - 0884-0431
DOI - 10.1359/jbmr.1999.14.7.1163
Subject(s) - calcitriol receptor , locus (genetics) , biology , fluorescence in situ hybridization , gene mapping , genetics , radiation hybrid mapping , bacterial artificial chromosome , gene map , gene , microbiology and biotechnology , chromosome , genome
The vitamin D receptor (VDR) is a member of the steroid hormone receptor superfamily of ligand‐activated transcription factors. The VDR gene was previously mapped to human chromosome 12q13–12q14, but its precise physical and genetic localization are unknown. The present study reports the mapping of the human VDR gene by radiation hybrid (RH) analysis, the isolation of a bacterial artificial chromosome (BAC) containing this gene, and physical mapping of the VDR gene by fluorescent in situ hybridization (FISH). RH analysis placed the VDR gene locus at chromosome 12cen‐q12, flanked by Stanford Human Genome Center (SHGC) 30216 and SHGC 9798 (D12S1892) markers. FISH analysis of a BAC containing the VDR gene confirmed its centromeric location. Thus, we have identified a BAC and genetic markers which can be used in the genetic analysis of the VDR gene and investigation of its involvement in osteoporosis and related disorders. We conclude that the VDR gene is centromeric to its previously reported locus on chromosome 12.