Genomics and proteomics of vertebrate cholesterol ester lipase (LIPA) and cholesterol 25-hydroxylase (CH25H)

被引:45
作者
Holmes, Roger S. [1 ,2 ,3 ]
VandeBerg, John L. [1 ,2 ]
Cox, Laura A. [1 ,2 ]
机构
[1] SW Fdn Biomed Res, Dept Genet, San Antonio, TX 78227 USA
[2] SW Fdn Biomed Res, Southwest Natl Primate Res Ctr, San Antonio, TX 78227 USA
[3] Griffith Univ, Sch Biomol & Phys Sci, Nathan, Qld 4111, Australia
关键词
Vertebrates; Lipase A; Cholesterol; 25-hydroxylase; Cholesterol metabolism; LYSOSOMAL ACID LIPASE; HUMAN GASTRIC LIPASE; MOLECULAR-CLONING; CRYSTAL-STRUCTURE; STORAGE DISEASE; WOLMAN DISEASE; GENE FAMILY; HYDROLASE; LIPOPROTEIN; METABOLISM;
D O I
10.1007/s13205-011-0013-9
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 [微生物学]; 090105 [作物生产系统与生态工程];
摘要
Cholesterol ester lipase (LIPA; EC 3.1.1.13) and cholesterol 25-hydroxylase (CH25H; EC 1.14.99.48) play essential role in cholesterol metabolism in the body by hydrolysing cholesteryl esters and triglycerides within lysosomes (LIPA) and catalysing the formation of 25-hydroxycholesterol from cholesterol (CH25H) which acts to repress cholesterol biosynthesis. Bioinformatic methods were used to predict the amino acid sequences, structures and genomic features of several vertebrate LIPA and CH25H genes and proteins, and to examine the phylogeny of vertebrate LIPA. Amino acid sequence alignments and predicted subunit structures enabled the identification of key sequences previously reported for human LIPA and CH25H and transmembrane structures for vertebrate CH25H sequences. Vertebrate LIPA and CH25H genes were located in tandem on all vertebrate genomes examined and showed several predicted transcription factor binding sites and CpG islands located within the 50 regions of the human genes. Vertebrate LIPA genes contained nine coding exons, while all vertebrate CH25H genes were without introns. Phylogenetic analysis demonstrated the distinct nature of the vertebrate LIPA gene and protein family in comparison with other vertebrate acid lipases and has apparently evolved from an ancestral LIPA gene which predated the appearance of vertebrates.
引用
收藏
页码:99 / 109
页数:11
相关论文
共 52 条
[1]
BASIC LOCAL ALIGNMENT SEARCH TOOL [J].
ALTSCHUL, SF ;
GISH, W ;
MILLER, W ;
MYERS, EW ;
LIPMAN, DJ .
JOURNAL OF MOLECULAR BIOLOGY, 1990, 215 (03) :403-410
[2]
PURIFICATION, CHARACTERIZATION AND MOLECULAR-CLONING OF HUMAN HEPATIC LYSOSOMAL ACID LIPASE [J].
AMEIS, D ;
MERKEL, M ;
ECKERSKORN, C ;
GRETEN, H .
EUROPEAN JOURNAL OF BIOCHEMISTRY, 1994, 219 (03) :905-914
[3]
ANDERSON RA, 1991, J BIOL CHEM, V266, P22479
[4]
MUTATIONS AT THE LYSOSOMAL ACID CHOLESTERYL ESTER HYDROLASE GENE LOCUS IN WOLMAN-DISEASE [J].
ANDERSON, RA ;
BYRUM, RS ;
COATES, PM ;
SANDO, GN .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (07) :2718-2722
[5]
25-Hydroxycholesterol secreted by macrophages in response to Toll-like receptor activation suppresses immunoglobulin A production [J].
Bauman, David R. ;
Bitmansour, Andrew D. ;
McDonald, Jeffrey G. ;
Thompson, Bonne M. ;
Liang, Guosheng ;
Russell, David W. .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2009, 106 (39) :16764-16769
[6]
CHOLESTEROL ESTER STORAGE DISEASE - CLINICAL, BIOCHEMICAL, AND PATHOLOGICAL-STUDIES [J].
BEAUDET, AL ;
FERRY, GD ;
NICHOLS, BL ;
ROSENBERG, HS .
JOURNAL OF PEDIATRICS, 1977, 90 (06) :910-914
[7]
MOLECULAR-CLONING OF A HUMAN GASTRIC LIPASE AND EXPRESSION OF THE ENZYME IN YEAST [J].
BODMER, MW ;
ANGAL, S ;
YARRANTON, GT ;
HARRIS, TJR ;
LYONS, A ;
KING, DJ ;
PIERONI, G ;
RIVIERE, C ;
VERGER, R ;
LOWE, PA .
BIOCHIMICA ET BIOPHYSICA ACTA, 1987, 909 (03) :237-244
[8]
BURTON BK, 1981, AM J HUM GENET, V33, P203
[9]
STRUCTURE OF THE HUMAN HEPATIC TRIGLYCERIDE LIPASE GENE [J].
CAI, SJ ;
WONG, DM ;
CHEN, SH ;
CHAN, L .
BIOCHEMISTRY, 1989, 28 (23) :8966-8971
[10]
The DNA sequence and comparative analysis of human chromosome 10 [J].
Deloukas, P ;
Earthrowl, ME ;
Grafham, DV ;
Rubenfield, M ;
French, L ;
Steward, CA ;
Sims, SK ;
Jones, MC ;
Searle, S ;
Scott, C ;
Howe, K ;
Hunt, SE ;
Andrews, TD ;
Gilbert, JGR ;
Swarbreck, D ;
Ashurst, JL ;
Taylor, A ;
Battles, J ;
Bird, CP ;
Ainscough, R ;
Almeida, JP ;
Ashwell, RIS ;
Ambrose, KD ;
Babbage, AK ;
Bagguley, CL ;
Bailey, J ;
Banerjee, R ;
Bates, K ;
Beasley, H ;
Bray-Allen, S ;
Brown, AJ ;
Brown, JY ;
Burford, DC ;
Burrill, W ;
Burton, J ;
Cahill, P ;
Camire, D ;
Carter, NP ;
Chapman, JC ;
Clark, SY ;
Clarke, G ;
Clee, CM ;
Clegg, S ;
Corby, N ;
Coulson, A ;
Dhami, P ;
Dutta, I ;
Dunn, M ;
Faulkner, L ;
Frankish, A .
NATURE, 2004, 429 (6990) :375-381