Organization of the human cholesteryl ester transfer protein gene.

  title={Organization of the human cholesteryl ester transfer protein gene.},
  author={Luis B. Agellon and Elaine M. Quinet and Thomas G. Gillette and Dennis Drayna and Mary Lou Brown and Alan R Tall},
  volume={29 6},
The plasma cholesteryl ester transfer protein (CETP) catalyzes the transfer of phospholipids and neutral lipids between the lipoproteins. Thus, this protein may be important in modulating lipoprotein levels in the plasma. We have determined the primary structure and organization of the human CETP gene. Southern blotting of cellular DNA indicated a single copy of the CETP gene exists per haploid genome. Analysis of three overlapping genomic clones showed that the gene spans approximately 25 kbp… Expand
Alternative splicing of the mRNA encoding the human cholesteryl ester transfer protein.
The experiments show that the expression of the human CETP gene is modified by alternative splicing of the ninth exon, in a tissue-specific fashion, which could serve to produce a protein with a function other than plasma neutral lipid transfer, or as an on-off switch to regulate the local concentration of biologically active protein. Expand
Plasma cholesteryl ester transfer protein (CETP) in relation to human pathophysiology
Plasma CETP was initially isolated as a highly purified 74 kD protein. The human CETP gene is located at chromosome 16q13, near the locus of the lecithin cholesterol acyltransferase (LCAT) gene. TheExpand
Human plasma cholesteryl ester transfer protein consists of a mixture of two forms reflecting variable glycosylation at asparagine 341.
Recombinant CETP (rCETP), derived from stable expression of the CETP cDNA in Chinese hamster ovary (CHO) cells, appeared as a protein doublet comparable to plasma CETP, suggesting residual N-linked carbohydrates resistant to glyco F digestion. Expand
Alternative Splicing of the Human Cholesteryl Ester Transfer Protein Gene in Transgenic Mice
The CETP gene expression was found to be highly regulated in a tissue-specific fashion during development and the E9-deleted mRNA appears to be poorly translated and/or secreted, and the cognate protein is inactive in lipid transfer and lipoprotein metabolism. Expand
Structure-function studies of human cholesteryl ester transfer protein by linker insertion scanning mutagenesis.
Twenty-seven linker insertion mutants at 18 different sites along the CETP molecule were prepared and transiently expressed in a mammalian cell line, suggesting a similar structural requirement for both neutral lipid transfer activities. Expand
Molecular biology and pathophysiological aspects of plasma cholesteryl ester transfer protein.
The in vitro experiments showed that large CE-rich HDL particles in CETP deficiency are defective in cholesterol efflux, and the current review will focus on the recent findings on the molecular biology and pathophysiological aspects of plasma CETP, a key protein in reverse cholesterol transport. Expand
Molecular mechanisms of cholesteryl ester transfer protein deficiency in Japanese.
The current review focused on the characterization of the Japanese subjects with CETP deficiency, including current findings on the TaqIB polymorphism-B2 allele with low CETP mass and increased HDL cholesterol. Expand
Identification of the intron 14 splicing defect of the cholesteryl ester transfer protein gene in Hong Kong Chinese
Investigating possible genetic factors influencing lipid levels and describing the frequency of an intron 14 mutation of CETP gene and its relationship to plasma lipid concentrations in Hong Kong Chinese are presented. Expand
Deficiency of cholesteryl ester transfer protein. Description of the molecular defect and the dissociation of cholesteryl ester and triglyceride transport in plasma.
The combination of TG intolerance of uncertain cause, together with CETP deficiency due to a novel mutation, produced the paradoxical constellation--high levels of HDL cholesterol associated with a high post-prandial lipemia of 1460 mg triglycerides/dL--and provided further insight into the role of CETP as mediator between pools of triglycerides and cholesteryl esters in plasma. Expand
Human microsomal triglyceride transfer protein large subunit gene structure.
Microsomal triglyceride transfer protein (MTP) is a heterodimer consisting of the multifunctional enzyme protein disulfide isomerase and a unique, large 97-kDa subunit. MTP is required for theExpand