title: Single nucleotide polymorphisms of RXRA encoding retinoid X receptor alpha.
abstract: Retinoic X receptor alpha (RXRA), encoded by RXRA, plays a key role in development and metabolism, specifically in adipocyte biology, glucose homeostasis, and intestinal cholesterol balance. RXRA is also a positional candidate gene for Berardinelli-Seip congenital lipodystrophy. We report the systematic screening of RXRA coding regions by genomic DNA sequencing, which has resulted in the identification of three novel single-nucleotide polymorphisms.
authors.affiliation: Blackburn Cardiovascular Genetics Laboratory, London, Ontario, Canada. robert.hegele@rri.on.ca
authors.forename: R A
authors.initials: RA
authors.lastname: Hegele
authors.forename: H
authors.initials: H
authors.lastname: Cao
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D004252:DNA Mutational Analysis; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D044469:Racial Groups / Q000235:genetics; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D047488:Retinoid X Receptors; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; D018168:Receptors, Retinoic Acid; D047488:Retinoid X Receptors; D014157:Transcription Factors