A second complementation class of cholesterol transport mutants with a variant Niemann-Pick type C phenotype.
We previously isolated Chinese Hamster ovary cell mutants that were defective in the intracellular transport of low density lipoprotein (LDL)-derived cholesterol (Dahl, N.K., K.L. Reed, M.A. Daunais, J.R. Faust, and L. Liscum. 1992 J. Biol. Chem. 267: 4889-4896). Several of the mutants exhibited the same biochemical phenotype as classical Niemann-Pick type C (NPC) fibroblasts. Complementation analysis between these mutants and other cholesterol transport mutants with a variant biochemical phenotype has defined two complementation classes. One class is characterized by expression of the classical NPC phenotype and may represent a true cholesterol transport mutant, while the second is characterized by expression of a variant NPC phenotype and may represent a signaling defect in LDL-sensitive homeostatic responses.
Dahl
N K
NK
Department of Physiology, Tufts University School of Medicine, Boston, MA 02111.
Daunais
M A
MA
Liscum
L
L
D000818:Animals; D001692:Biological Transport / Q000235:genetics; D016466:CHO Cells; D002784:Cholesterol / Q000493:pharmacokinetics*; D008078:Cholesterol, LDL / Q000378:metabolism; D006224:Cricetinae; D005816:Genetic Complementation Test; D014644:Genetic Variation; D006888:Hydroxycholesterols / Q000378:metabolism; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors; D009154:Mutation; D009542:Niemann-Pick Diseases / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype
D008078:Cholesterol, LDL; D006888:Hydroxycholesterols; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors; C007997:25-hydroxycholesterol; D002784:Cholesterol