Two genes that map to the STSL locus cause sitosterolemia: Genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively

American Journal of Human Genetics

Volumn 69, Issue 2, 2001, Pages 278-290

  Lu, Kangmo ^a   Lee, Mi Hye ^a   Hazard, Starr ^b   Brooks Wilson, Angela ^c   Hidaka, Hideki ^d   Kojima, Hideto ^e   Ose, Leiv ^f   Stalenhoef, Anton F H ^g   Mietinnen, Tatu ^h   Bjorkhem, Ingemar ⁱ   Bruckert, Eric ^j   Pandya, Arti ^k   Brewer, H Bryan ^l   Salen, Gerald ^m   Dean, Michael ⁿ   Srivastava, Anand ^o   Patel, Shailendra B ^a  

^a Division of Endocrinology   (United States)

^b MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^c Xenon Genetics Inc   (United States)

^d SANYO ELECTRIC CO LTD   (Japan)

^e SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

^f OSLO UNIVERSITY HOSPITAL   (Norway)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^h HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

ⁱ KAROLINSKA INSTITUTE   (Sweden)

^j PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^k VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^l NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^m UNIVERSITY OF MEDICINE AND DENTISTRY OF NEW JERSEY   (United States)

ⁿ NATIONAL CANCER INSTITUTE   (United States)

^o GREENWOOD GENETIC CENTER   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; PROTEIN; SITOSTEROL; STEROLIN 1; STEROLIN 2; UNCLASSIFIED DRUG;

ARTICLE; ATHEROSCLEROSIS; AUTOSOMAL RECESSIVE DISORDER; CHOLESTEROL TRANSPORT; CHROMOSOME 2P; CLINICAL ARTICLE; CONTROLLED STUDY; CORONARY ARTERY DISEASE; FAMILY STUDY; FEMALE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE STRUCTURE; HUMAN; INTESTINE ABSORPTION; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; XANTHOMA;

EID: 0034915332     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/321294     Document Type: Article

References (35)

1. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters
2. The effects of sitosterol on lipids
3. Beta-sitosterolemia and xanthomatosis: A newly described lipid storage disease in two sisters
4. Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol
5. The effect of beta-sitosterol on serum lipids of young men with arteriosclerotic heart disease
6. Inferring phylogenies from protein sequences by parsimony, distance, and likelihood methods
7. Absorbability of beta-sitosterol in humans
8. Abnormal metabolism of shellfish sterols in a patient with sitosterolemia and xanthomatosis
9. Identification of a receptor mediating absorption of dietary cholesterol in the intestine
10. Increased plasma plant sterol levels in heterozygotes with sitosterolemia and xanthomatosis
11. Inhibition of cholesterol absorption in rats by plant sterols
12. An inventory of the human ABC proteins
13. Differential absorption of plant sterols in the dog
14. Localization of human ATP-binding cassette transporter 1 (ABC1) in normal and atherosclerotic tissues
15. Fine mapping of a gene responsible for regulating dietary cholesterol absorption: Founder effects underlie cases of phytosterolaemia in multiple communities
16. Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption
17. High-resolution physical and transcript map of human chromosome 2p21 containing the sitosterolemia locus
18. Hepatic cholesterol and bile acid metabolism and intestinal cholesterol absorption in scavenger receptor class B type I-deficient mice
19. Human natural killer cells and mature T lymphocytes express identical CD3 zeta subunits as defined by cDNA cloning and sequence analysis
20. TreeView: An application to display phylogenetic trees on personal computers
21. Sitosterolemia: Exclusion of genes involved in reduced cholesterol biosynthesis
22. Mapping a gene involved in regulating dietary cholesterol absorption: The sitosterolemia locus is found at chromosome 2p21
23. Reduction of blood cholesterol in man
24. Regulation of absorption and ABC1-mediated efflux of cholesterol by RXR heterodimers
25. The chicken homeobox gene Hoxd-11 encodes two alternatively spliced RNA species
26. Sitosterolemia
27. Intestinal sterol absorption mediated by scavenger receptors is competitively inhibited by amphipathic peptides and proteins
28. A liver-specific ATP-binding cassette gene (ABCGS) from the ABCG (White) gene subfamily maps to human chromosome 2p21 in the region of the Sitosterolemia locus
29. Scanning and competition between AGs are involved in 3′ splice site selection in mammalian introns
30. Molecular cloning and characterization of TRPC5 (HTRP5), the human homologue of a mouse brain receptor-activated capacitative Ca2+ entry channel
31. Phylogeny Reconstruction
32. CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice
33. Cyclosporin-induced dyslipoproteinemia is associated with selective activation of SREBP-2
34. Identification of an alternate type I insulin-like growth factor receptor beta subunit mRNA transcript
35. Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-1G→C is found in over sixty percent of US propositi