Gene Expression and Genetic Variation in Response to Endoplasmic Reticulum Stress in Human Cells

Hultin, 1961, On the functions of the endoplasmic reticulum, Biochem. Pharmacol., 5, 359, 10.1016/0006-2952(61)90029-6 Shands, 1973, Differential morphology of mouse spleen cells stimulated in vitro by endotoxin, phytohemagglutinin, pokeweed mitogen and staphylococcal enterotoxin B, Am. J. Pathol., 70, 1 Travers, 2000, Functional and genomic analyses reveal an essential coordination between the unfolded protein response and ER-associated degradation, Cell, 101, 249, 10.1016/S0092-8674(00)80835-1 Jonikas, 2009, Comprehensive characterization of genes required for protein folding in the endoplasmic reticulum, Science, 323, 1693, 10.1126/science.1167983 Haas, 1983, Immunoglobulin heavy chain binding protein, Nature, 306, 387, 10.1038/306387a0 Yoshida, 1998, Identification of the cis-acting endoplasmic reticulum stress response element responsible for transcriptional induction of mammalian glucose-regulated proteins. Involvement of basic leucine zipper transcription factors, J. Biol. Chem., 273, 33741, 10.1074/jbc.273.50.33741 Haze, 1999, Mammalian transcription factor ATF6 is synthesized as a transmembrane protein and activated by proteolysis in response to endoplasmic reticulum stress, Mol. Biol. Cell, 10, 3787, 10.1091/mbc.10.11.3787 Cox, 1993, Transcriptional induction of genes encoding endoplasmic reticulum resident proteins requires a transmembrane protein kinase, Cell, 73, 1197, 10.1016/0092-8674(93)90648-A Harding, 1999, Protein translation and folding are coupled by an endoplasmic-reticulum-resident kinase, Nature, 397, 271, 10.1038/16729 Kim, 2008, Cell death and endoplasmic reticulum stress: disease relevance and therapeutic opportunities, Nat. Rev. Drug Discov., 7, 1013, 10.1038/nrd2755 Austin, 2009, The unfolded protein response in health and disease, Antioxid Redox Signal., 11, 2279, 10.1089/ars.2009.2686 Todd, 2008, The endoplasmic reticulum stress response in immunity and autoimmunity, Nat. Rev. Immunol., 8, 663, 10.1038/nri2359 Kaufman, 2002, Orchestrating the unfolded protein response in health and disease, J. Clin. Invest., 110, 1389, 10.1172/JCI0216886 Schröder, 2005, The mammalian unfolded protein response, Annu. Rev. Biochem., 74, 739, 10.1146/annurev.biochem.73.011303.074134 Morris, 1997, Immunoglobulin binding protein (BiP) function is required to protect cells from endoplasmic reticulum stress but is not required for the secretion of selective proteins, J. Biol. Chem., 272, 4327, 10.1074/jbc.272.7.4327 Yan, 2002, Control of PERK eIF2alpha kinase activity by the endoplasmic reticulum stress-induced molecular chaperone P58IPK, Proc. Natl. Acad. Sci. USA, 99, 15920, 10.1073/pnas.252341799 Sokal, 1995 McRae, 2007, Replicated effects of sex and genotype on gene expression in human lymphoblastoid cell lines, Hum. Mol. Genet., 16, 364, 10.1093/hmg/ddl456 Hindorff, 2009, Potential etiologic and functional implications of genome-wide association loci for human diseases and traits, Proc. Natl. Acad. Sci. USA, 106, 9362, 10.1073/pnas.0903103106 Booth, 1989, Perturbation of cellular calcium induces secretion of luminal ER proteins, Cell, 59, 729, 10.1016/0092-8674(89)90019-6 Tkacz, 1975, Tunicamycin inhibition of polyisoprenyl N-acetylglucosaminyl pyrophosphate formation in calf-liver microsomes, Biochem. Biophys. Res. Commun., 65, 248, 10.1016/S0006-291X(75)80086-6 Yoshida, 2001, XBP1 mRNA is induced by ATF6 and spliced by IRE1 in response to ER stress to produce a highly active transcription factor, Cell, 107, 881, 10.1016/S0092-8674(01)00611-0 Yoshida, 2001, Endoplasmic reticulum stress-induced formation of transcription factor complex ERSF including NF-Y (CBF) and activating transcription factors 6alpha and 6beta that activates the mammalian unfolded protein response, Mol. Cell. Biol., 21, 1239, 10.1128/MCB.21.4.1239-1248.2001 Yoshida, 2000, ATF6 activated by proteolysis binds in the presence of NF-Y (CBF) directly to the cis-acting element responsible for the mammalian unfolded protein response, Mol. Cell. Biol., 20, 6755, 10.1128/MCB.20.18.6755-6767.2000 Wang, 2000, Activation of ATF6 and an ATF6 DNA binding site by the endoplasmic reticulum stress response, J. Biol. Chem., 275, 27013, 10.1016/S0021-9258(19)61473-0 Yoshida, 2003, A time-dependent phase shift in the mammalian unfolded protein response, Dev. Cell, 4, 265, 10.1016/S1534-5807(03)00022-4 Ashburner, 2000, Gene ontology: tool for the unification of biology, Nat. Genet., 25, 25, 10.1038/75556 Cheung, 2003, Natural variation in human gene expression assessed in lymphoblastoid cells, Nat. Genet., 33, 422, 10.1038/ng1094 Smirnov, 2009, Genetic analysis of radiation-induced changes in human gene expression, Nature, 459, 587, 10.1038/nature07940 Blaschke, 2003, Expression of activation-induced, T cell-derived, and chemokine-related cytokine/lymphotactin and its functional role in rheumatoid arthritis, Arthritis Rheum., 48, 1858, 10.1002/art.11171 Ou, 2002, Enhanced expression of C chemokine lymphotactin in IgA nephropathy, Nephron, 91, 262, 10.1159/000058402 Moore, 2009, PTPN2, a candidate gene for type 1 diabetes, modulates interferon-gamma-induced pancreatic beta-cell apoptosis, Diabetes, 58, 1283, 10.2337/db08-1510 Ounissi-Benkalha, 2008, The molecular genetics of type 1 diabetes: new genes and emerging mechanisms, Trends Mol. Med., 14, 268, 10.1016/j.molmed.2008.04.002 Inoue, 1998, A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome), Nat. Genet., 20, 143, 10.1038/2441 Amr, 2007, A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2, Am. J. Hum. Genet., 81, 673, 10.1086/520961 Cheung, 2009, Genetics of human gene expression: mapping DNA variants that influence gene expression, Nat. Rev. Genet., 10, 595, 10.1038/nrg2630 Cookson, 2009, Mapping complex disease traits with global gene expression, Nat. Rev. Genet., 10, 184, 10.1038/nrg2537 Morley, 2004, Genetic analysis of genome-wide variation in human gene expression, Nature, 430, 743, 10.1038/nature02797 Cheung, 2005, Mapping determinants of human gene expression by regional and genome-wide association, Nature, 437, 1365, 10.1038/nature04244 Emilsson, 2008, Genetics of gene expression and its effect on disease, Nature, 452, 423, 10.1038/nature06758 Göring, 2007, Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes, Nat. Genet., 39, 1208, 10.1038/ng2119 Dixon, 2007, A genome-wide association study of global gene expression, Nat. Genet., 39, 1202, 10.1038/ng2109 Stranger, 2005, The genetics of regulatory variation in the human genome, Hum. Genomics, 2, 126, 10.1186/1479-7364-2-2-126