Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. Nat Genet 2001 Jan;27(1):79-83
Date
01/04/2001Pubmed ID
11138003Pubmed Central ID
PMC1350991DOI
10.1038/83799Scopus ID
2-s2.0-0035158733 (requires institutional sign-in at Scopus site) 608 CitationsAbstract
The molecular mechanisms regulating the amount of dietary cholesterol retained in the body, as well as the body's ability to exclude selectively other dietary sterols, are poorly understood. An average western diet will contain about 250-500 mg of dietary cholesterol and about 200-400 mg of non-cholesterol sterols. About 50-60% of the dietary cholesterol is absorbed and retained by the normal human body, but less than 1% of the non-cholesterol sterols are retained. Thus, there exists a subtle mechanism that allows the body to distinguish between cholesterol and non-cholesterol sterols. In sitosterolemia, a rare autosomal recessive disorder, affected individuals hyperabsorb not only cholesterol but also all other sterols, including plant and shellfish sterols from the intestine. The major plant sterol species is sitosterol; hence the name of the disorder. Consequently, patients with this disease have very high levels of plant sterols in the plasma and develop tendon and tuberous xanthomas, accelerated atherosclerosis, and premature coronary artery disease. We previously mapped the STSL locus to human chromosome 2p21 and further localized it to a region of less than 2 cM bounded by markers D2S2294 and D2S2291 (M.-H.L. et al., manuscript submitted). We now report that a new member of the ABC transporter family, ABCG5, is mutant in nine unrelated sitosterolemia patients.
Author List
Lee MH, Lu K, Hazard S, Yu H, Shulenin S, Hidaka H, Kojima H, Allikmets R, Sakuma N, Pegoraro R, Srivastava AK, Salen G, Dean M, 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 TransportersAbsorption
Amino Acid Sequence
Animals
Base Sequence
Cholesterol, Dietary
Cloning, Molecular
DNA Mutational Analysis
Europe
Exons
Female
Humans
Japan
Lipid Metabolism, Inborn Errors
Lipoproteins
Male
Mice
Molecular Sequence Data
Mutation
North America
Pedigree
Phylogeny
RNA, Messenger
Rats
Sequence Alignment
Sitosterols
