Coordinately Regulated Alternative Splicing of Genes Involved in Cholesterol Biosynthesis and Uptake

PLoS ONE - Tập 6 Số 4 - Trang e19420
Marisa W. Medina1, Feng Gao1, Devesh Naidoo1, Lawrence L. Rudel2, Ryan E. Temel2, Allison L. McDaniel2, Stephanie Marshall2, Ronald M. Krauss1
1Department of Atherosclerosis Research, Children's Hospital Oakland Research Institute, Oakland, California, United States of America
2Department of Pathology – Lipid Sciences, Wake Forest University Health Sciences, Winston-Salem, North Carolina, United States of America

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B Modrek, 2002, A genomic view of alternative splicing., Nat Genet, 30, 13, 10.1038/ng0102-13

M Chen, 2009, Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches., Nat Rev Mol Cell Biol, 10, 741, 10.1038/nrm2777

R Burkhardt, 2008, Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13., Arterioscler Thromb Vasc Biol, 28, 2078, 10.1161/ATVBAHA.108.172288

MW Medina, 2008, Alternative splicing of 3-hydroxy-3-methylglutaryl coenzyme A reductase is associated with plasma low-density lipoprotein cholesterol response to simvastatin., Circulation, 118, 355, 10.1161/CIRCULATIONAHA.108.773267

RJ Schmidt, 2008, A novel splicing variant of proprotein convertase subtilisin/kexin type 9., DNA Cell Biol, 27, 183, 10.1089/dna.2007.0667

H Zhu, 2007, A common polymorphism decreases low-density lipoprotein receptor exon 12 splicing efficiency and associates with increased cholesterol., Hum Mol Genet, 16, 1765, 10.1093/hmg/ddm124

G Gil, 1987, Optional exon in the 5′-untranslated region of 3-hydroxy-3-methylglutaryl coenzyme A synthase gene: conserved sequence and splicing pattern in humans and hamsters., Proc Natl Acad Sci U S A, 84, 1863, 10.1073/pnas.84.7.1863

OL Holla, 2009, Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses., Mol Genet Metab, 96, 245, 10.1016/j.ymgme.2008.12.014

SM Houten, 2001, Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome., Eur J Hum Genet, 9, 253, 10.1038/sj.ejhg.5200595

CW Knouff, 2008, Pharmacological effects of lipid-lowering drugs recapitulate with a larger amplitude the phenotypic effects of common variants within their target genes., Pharmacogenet Genomics, 18, 1051, 10.1097/FPC.0b013e32831270eb

S Kathiresan, 2008, Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans., Nat Genet, 40, 189, 10.1038/ng.75

R Singh, 1995, Distinct binding specificities and functions of higher eukaryotic polypyrimidine tract-binding proteins., Science, 268, 1173, 10.1126/science.7761834

RC Chan, 1997, The polypyrimidine tract binding protein binds upstream of neural cell-specific c-src exon N1 to repress the splicing of the intron downstream., Mol Cell Biol, 17, 4667, 10.1128/MCB.17.8.4667

CH Lin, 1995, Regulation of alternative 3′ splice site selection by constitutive splicing factors., RNA, 1, 234

EJ Wagner, 2001, Polypyrimidine tract binding protein antagonizes exon definition., Mol Cell Biol, 21, 3281, 10.1128/MCB.21.10.3281-3288.2001

H Li, 2009, Identification of mRNA binding proteins that regulate the stability of LDL receptor mRNA through AU-rich elements., J Lipid Res, 50, 820, 10.1194/jlr.M800375-JLR200

MS Brown, 2009, Cholesterol feedback: from Schoenheimer's bottle to Scap's MELADL., J Lipid Res, 50, S15, 10.1194/jlr.R800054-JLR200

JD Horton, 2003, Combined analysis of oligonucleotide microarray data from transgenic and knockout mice identifies direct SREBP target genes., Proc Natl Acad Sci U S A, 100, 12027, 10.1073/pnas.1534923100

MS Brown, 1980, Multivalent feedback regulation of HMG CoA reductase, a control mechanism coordinating isoprenoid synthesis and cell growth., J Lipid Res, 21, 505, 10.1016/S0022-2275(20)42221-7

JL Goldstein, 1990, Regulation of the mevalonate pathway., Nature, 343, 425, 10.1038/343425a0

S Balasubramaniam, 1977, Regulation of cholesterol synthesis in rat adrenal gland through coordinate control of 3-hydroxy-3-methylglutaryl coenzyme A synthase and reductase activities., Proc Natl Acad Sci U S A, 74, 1421, 10.1073/pnas.74.4.1421

TY Chang, 1980, Regulation of cytosolic acetoacetyl coenzyme A thiolase, 3-hydroxy-3-methylglutaryl coenzyme A synthase, 3-hydroxy-3-methylglutaryl coenzyme A reductase, and mevalonate kinase by low density lipoprotein and by 25-hydroxycholesterol in Chinese hamster ovary cells., J Biol Chem, 255, 7787, 10.1016/S0021-9258(19)43901-X

DS Rosser, 1989, Coordinate regulation of 3-hydroxy-3-methylglutaryl-coenzyme A synthase, 3-hydroxy-3-methylglutaryl-coenzyme A reductase, and prenyltransferase synthesis but not degradation in HepG2 cells., J Biol Chem, 264, 12653, 10.1016/S0021-9258(18)63906-7

DJ Wilkin, 1990, Isolation and sequence of the human farnesyl pyrophosphate synthetase cDNA. Coordinate regulation of the mRNAs for farnesyl pyrophosphate synthetase, 3-hydroxy-3-methylglutaryl coenzyme A reductase, and 3-hydroxy-3-methylglutaryl coenzyme A synthase by phorbol ester., J Biol Chem, 265, 4607, 10.1016/S0021-9258(19)39606-1

B Hartmann, 2009, Global analysis of alternative splicing regulation by insulin and wingless signaling in Drosophila cells., Genome Biol, 10, R11, 10.1186/gb-2009-10-1-r11

C Schwerk, 2005, Regulation of apoptosis by alternative pre-mRNA splicing., Mol Cell, 19, 1, 10.1016/j.molcel.2005.05.026

K Tveten, 2006, Analysis of alternatively spliced isoforms of human LDL receptor mRNA., Clin Chim Acta, 373, 151, 10.1016/j.cca.2006.05.031

E Graef, 1995, Enzymatic properties of overexpressed HBV-mevalonate kinase fusion proteins and mevalonate kinase proteins in the human hepatoma cell line PLC/PRF/5., Virology, 208, 696, 10.1006/viro.1995.1201

E Graef, 1994, Insertional activation of mevalonate kinase by hepatitis B virus DNA in a human hepatoma cell line., Oncogene, 9, 81

R Spellman, 2007, Crossregulation and functional redundancy between the splicing regulator PTB and its paralogs nPTB and ROD1., Mol Cell, 27, 420, 10.1016/j.molcel.2007.06.016

F Brunel, 1996, The polypyrimidine tract binding (PTB) protein interacts with single-stranded DNA in a sequence-specific manner., Nucleic Acids Res, 24, 1608, 10.1093/nar/24.9.1608

A Rustighi, 2002, A polypyrimidine/polypurine tract within the Hmga2 minimal promoter: a common feature of many growth-related genes., Biochemistry, 41, 1229, 10.1021/bi011666o

L Becker, A macrophage sterol-responsive network linked to atherogenesis., Cell Metab, 11, 125, 10.1016/j.cmet.2010.01.003

RM Krauss, 2008, Variation in the 3-hydroxyl-3-methylglutaryl coenzyme a reductase gene is associated with racial differences in low-density lipoprotein cholesterol response to simvastatin treatment., Circulation, 117, 1537, 10.1161/CIRCULATIONAHA.107.708388

JF Thompson, 2009, Comprehensive Whole-Genome and Candidate Gene Analysis for Response to Statin Therapy in the Treating to New Targets (TNT) Cohort., Circulation Cardiovascular Genetics, 2, 173, 10.1161/CIRCGENETICS.108.818062

JF Thompson, 2005, An association study of 43 SNPs in 16 candidate genes with atorvastatin response., Pharmacogenomics J, 5, 352, 10.1038/sj.tpj.6500328

S Kathiresan, 2009, Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants., Nat Genet, 41, 334, 10.1038/ng.327

S Kathiresan, 2008, Polymorphisms associated with cholesterol and risk of cardiovascular events., N Engl J Med, 358, 1240, 10.1056/NEJMoa0706728

JA Simon, 2006, Phenotypic predictors of response to simvastatin therapy among African-Americans and Caucasians: the Cholesterol and Pharmacogenetics (CAP) Study., Am J Cardiol, 97, 843, 10.1016/j.amjcard.2005.09.134

MM Shen, 1981, Heterogeneity of serum low density lipoproteins in normal human subjects., J Lipid Res, 22, 236, 10.1016/S0022-2275(20)35367-0

1988, A primate radiation: evolutionary biology of the African guenons.

LL Rudel, 1990, Effects on plasma lipoproteins of monounsaturated, saturated, and polyunsaturated fatty acids in the diet of African green monkeys., J Lipid Res, 31, 1873, 10.1016/S0022-2275(20)42331-4

TP Carr, 1993, Enzymatic determination of triglyceride, free cholesterol, and total cholesterol in tissue lipid extracts., Clin Biochem, 26, 39, 10.1016/0009-9120(93)90015-X

S Rozen, 2000, Primer3 on the WWW for general users and for biologist programmers., Methods Mol Biol, 132, 365

TN George, 1998, Mechanism of all trans-retinoic acid and glucocorticoid regulation of surfactant protein mRNA., Am J Physiol, 274, L560