PMID: 11325614Apr 28, 2001Paper

Structure of the human acyl-CoA:cholesterol acyltransferase-2 (ACAT-2) gene and its relation to dyslipidemia

Biochimica Et Biophysica Acta
K KatsurenT Ohta

Abstract

Acyl-CoA:cholesterol acyltransferase (ACAT) catalyzes cholesterol esterification in mammalian cells. Two isoforms of ACAT have been reported to date (ACAT-1 and ACAT-2). ACAT-1 is ubiquitously expressed in tissues except the intestine. In contrast, ACAT-2 is expressed mainly in the intestine in humans. To investigate the relationship between ACAT-2 and dyslipidemia, we determined the structure of the human ACAT-2 gene and then studied the relationship between mutations of the ACAT-2 gene and dyslipidemia. To isolate human ACAT-2 genomic DNA, we designed primers based on the human ACAT-2 cDNA sequence: forward primer 5'-ACACCTCGATCTTGGTCCTGCCATA-3' and reverse primer 5'-GGAATGCAGACAGGGAGTCCT-3'. Using these primers, a human P1-derived artificial chromosome (PAC) library was screened by PCR-based procedures. Isolated PAC clones were completely digested with BamHI and subcloned into plasmid vector. Subclones that contained exons were screened by dot-blot hybridization using partial ACAT-2 cDNA fragments. The coding region of the ACAT-2 gene was encoded in 15 exons from 51 to 265 base pairs on a 21 kilobase span of genomic DNA. The exonic sequences coincided completely with that of ACAT-2 cDNA, and each exon-intron junction conserv...Continue Reading

References

Feb 1, 1985·The Journal of Clinical Investigation·C S WangP Alaupovic
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May 1, 1993·Arteriosclerosis and Thrombosis : a Journal of Vascular Biology·A D Sniderman, K Cianflone
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Citations

Jun 7, 2002·The American Journal of Medicine·Antonio M Gotto
Dec 7, 2005·Acta Biochimica Et Biophysica Sinica·Xiao-Min YaoBo-Liang Li
Jul 3, 2021·International Journal of Molecular Sciences·Michel Y Braun

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