Single nucleotide polymorphisms of RXRA encoding retinoid X receptor alpha.
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.
Hegele
R A
RA
Blackburn Cardiovascular Genetics Laboratory, London, Ontario, Canada. robert.hegele@rri.on.ca
Cao
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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*
D020413:3' Untranslated Regions; D018168:Receptors, Retinoic Acid; D047488:Retinoid X Receptors; D014157:Transcription Factors