Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8. J Lipid Res 2002 Apr;43(4):565-78
Date
03/22/2002Pubmed ID
11907139Pubmed Central ID
PMC1815568Scopus ID
2-s2.0-0036198630 (requires institutional sign-in at Scopus site) 57 CitationsAbstract
Mammalian physiological processes can distinguish between dietary cholesterol and non-cholesterol, retaining very little of the non-cholesterol in their bodies. We have recently identified two genes, ABCG5 and ABCG8, encoding sterolin-1 and -2 respectively, mutations of which cause the human disease sitosterolemia. We report here the mouse cDNAs and genomic organization of Abcg5 and Abcg8. Both genes are arranged in an unusual head-to-head configuration, and only 140 bases separate their two respective start-transcription sites. A single TATA motif was identified, with no canonical CCAT box present between the two genes. The genes are located on mouse chromosome 17 and this complex spans no more than 40 kb. Expression of both genes is confined to the liver and intestine. For both genes, two different sizes of transcripts were identified which differ in the lengths of their 3' UTRs. Additionally, alternatively spliced forms for Abcg8 were identified, resulting from a CAG repeat at the intron 1 splice-acceptor site, causing a deletion of a glutamine. We screened 20 different mouse strains for polymorphic variants. Although a large number of polymorphic variants were identified, strains reported to show significant differences in cholesterol absorption rates did not show significant genomic variations in Abcg5 or Abcg8.
Author List
Lu K, Lee MH, Yu H, Zhou Y, Sandell SA, Salen G, Patel SBAuthor
Hongwei Yu MD Professor in the Anesthesiology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
ATP-Binding Cassette TransportersAlternative Splicing
Amino Acid Sequence
Animals
Base Sequence
Chromosomes
Cloning, Molecular
DNA, Complementary
Exons
Gene Deletion
Genetic Variation
Glutamine
Humans
Introns
Lipoproteins
Mice
Mice, Inbred Strains
Molecular Sequence Data
Polymorphism, Genetic
Promoter Regions, Genetic
RNA, Messenger
Tissue Distribution