High-resolution physical and transcript map of human chromosome 2p21 containing the sitosterolaemia locus.

ABSTRACT: Sitosterolaemia (phytosterolaemia) is an autosomal recessive disorder characterised by the presence of tendon xanthomas in the face of normal or mildly elevated plasma cholesterol levels, premature atherosclerotic disease and has diagnostically elevated plasma and tissue plant sterol concentrations. Affected individuals show an increased absorption of both cholesterol and sitosterol from the diet, decreased bile clearance of these sterols and their metabolites resulting in markedly expanded whole body cholesterol and sitosterol pools. The defective gene is therefore hypothesised to play a crucial role in regulating dietary cholesterol absorption, and its elucidation may shed light on these molecular processes. We have previously localised the defective gene to human chromosome 2p21, betwee

SUBMITTER: Lu K 

PROVIDER: S-EPMC1350990 | biostudies-literature | 2001 May

REPOSITORIES: biostudies-literature