Bibliographie

Aarenstrup L, Falch AM, Jakobsen KK, Neve S, Henriksen LL, Tommerup N, Leffers H, Kristiansen K (2002) Expression and post-translational modification of human 4-hydroxy-phenylpyruvate dioxygenase. Cell Biol Int 26 :615-625

Aponte JL, Sega GA, Hauser LJ, Dhar MS, Withrow CM, Carpenter DA, Rinchik EM, Culiat CT, Johnson DK (2001) Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1. Proc Natl Acad Sci U S A 98 :641-645

Arranz JA, Pinol F, Kozak L, Perez-Cerda C, Cormand B, Ugarte M, Riudor E (2002) Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients. Hum Mutat 20 :180-188

Awata H, Endo F, Matsuda I (1994a) Structure of the human 4-hydroxyphenylpyruvic acid dioxygenase gene (HPD). Genomics 23 :534-539

Awata H, Endo F, Tanoue A, Kitano A, Nakano Y, Matsuda I (1994b) Structural organization and analysis of the human fumarylacetoacetate hydrolase gene in tyrosinemia type I. Biochim Biophys Acta 1226 :168-172

Bateman RL, Bhanumoorthy P, Witte JF, McClard RW, Grompe M, Timm DE (2001) Mechanistic inferences from the crystal structure of fumarylacetoacetate hydrolase with a bound phosphorus-based inhibitor. J Biol Chem 276 :15284-15291

Berger R, Van Faassen H, Taanman JW, De Vries H, Agsteribbe E (1987) Type I tyrosinemia: lack of immunologically detectable fumarylacetoacetase enzyme protein in tissues and cell extracts. Pediatr Res 22 :394-398

Bergeron A, D'Astous M, Timm DE, Tanguay RM (2001) Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1. J Biol Chem 276 :15225-15231

Bergeron A, Jorquera R, Tanguay RM (2003) [Hereditary tyrosinemia: an endoplasmic reticulum stress disorder?]. Med Sci (Paris) 19 :976-980

Bergman AJ, van den Berg IE, Brink W, Poll-The BT, Ploos van Amstel JK, Berger R (1998) Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries. Hum Mutat 12 :19-26

Birnboim HC, Doly J (1979) A rapid alkaline extraction procedure for screening recombinant plasmid DNA. Nucleic Acids Res 7 :1513-1523

Black AR, Black JD, Azizkhan-Clifford J (2001) Sp1 and kruppel-like factor family of transcription factors in cell growth regulation and cancer. J Cell Physiol 188 :143-160

Bossard P, Zaret KS (1998) GATA transcription factors as potentiators of gut endoderm differentiation. Development 125 :4909-4917

Boudreau F, Rings EH, van Wering HM, Kim RK, Swain GP, Krasinski SD, Moffett J, Grand RJ, Suh ER, Traber PG (2002) Hepatocyte nuclear factor-1 alpha, GATA-4, and caudal related homeodomain protein Cdx2 interact functionally to modulate intestinal gene transcription. Implication for the developmental regulation of the sucrase-isomaltase gene. J Biol Chem 277 :31909-31917

Boussif O, Lezoualc'h F, Zanta MA, Mergny MD, Scherman D, Demeneix B, Behr JP (1995) A versatile vector for gene and oligonucleotide transfer into cells in culture and in vivo: polyethylenimine. Proc Natl Acad Sci U S A 92 :7297-7301

Bray N, Dubchak I, Pachter L (2003) AVID: A global alignment program. Genome Res 13 :97-102

Burke TW, Kadonaga JT (1996) Drosophila TFIID binds to a conserved downstream basal promoter element that is present in many TATA-box-deficient promoters. Genes Dev 10 :711-724

Burke TW, Kadonaga JT (1997) The downstream core promoter element, DPE, is conserved from Drosophila to humans and is recognized by TAFII60 of Drosophila. Genes Dev 11 :3020-3031

Ceelie H, Spaargaren-Van Riel CC, De Jong M, Bertina RM, Vos HL (2003) Functional characterization of transcription factor binding sites for HNF1-alpha, HNF3-beta (FOXA2), HNF4-alpha, Sp1 and Sp3 in the human prothrombin gene enhancer. J Thromb Haemost 1 :1688-1698

Chalkley GE, Verrijzer CP (1999) DNA binding site selection by RNA polymerase II TAFs: a TAF(II)250-TAF(II)150 complex recognizes the initiator. Embo J 18 :4835-4845

Clevidence DE, Overdier DG, Tao W, Qian X, Pani L, Lai E, Costa RH (1993) Identification of nine tissue-specific transcription factors of the hepatocyte nuclear factor 3/forkhead DNA-binding-domain family. Proc Natl Acad Sci U S A 90 :3948-3952

Coleman J, Hawkinson M, Miskimins R, Miskimins WK (2001) The major transcription initiation site of the p27Kip1 gene is conserved in human and mouse and produces a long 5'-UTR. BMC Mol Biol 2 :12

De Braekeleer M, Larochelle J (1990) Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean. Am J Hum Genet 47 :302-307

Demers SI, Russo P, Lettre F, Tanguay RM (2003) Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia. Hum Pathol 34 :1313-1320

Denson LA, McClure MH, Bogue CW, Karpen SJ, Jacobs HC (2000) HNF3beta and GATA-4 transactivate the liver-enriched homeobox gene, Hex. Gene 246 :311-320

Dermitzakis ET, Clark AG (2002) Evolution of transcription factor binding sites in Mammalian gene regulatory regions: conservation and turnover. Mol Biol Evol 19 :1114-1121

Dreumont N, Maresca A, Boisclair-Lachance JF, Bergeron A, Tanguay RM (2005) A minor alternative transcript of the fumarylacetoacetate hydrolase gene produces a protein despite being likely subjected to nonsense-mediated mRNA decay. BMC Mol Biol 6 :1

Dreumont N, Poudrier JA, Bergeron A, Levy HL, Baklouti F, Tanguay RM (2001) A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation. BMC Genet 2 :9

Dubchak I, Brudno M, Loots GG, Pachter L, Mayor C, Rubin EM, Frazer KA (2000) Active conservation of noncoding sequences revealed by three-way species comparisons. Genome Res 10 :1304-1306

Duval M (résultats non publiés) Résultats non publiés gardés dans le laboratoire du Dr. Robert M. Tanguay.

Elpeleg ON, Shaag A, Holme E, Zughayar G, Ronen S, Fisher D, Hurvitz H (2002) Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I. Hum Mutat 19 :80-81

Endo F, Kubo S, Awata H, Kiwaki K, Katoh H, Kanegae Y, Saito I, Miyazaki J, Yamamoto T, Jakobs C, Hattori S, Matsuda I (1997) Complete rescue of lethal albino c14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathway. J Biol Chem 272 :24426-24432

Ensembl (2004) Ensembl Genome Browser: http://www.ensembl.org/.

Fellman JH, Fujita TS, Roth ES (1972) Assay, properties and tissue distribution of p-hydroxyphenylpyruvate hydroxylase. Biochim Biophys Acta 284 :90-100

Fenech AG, Billington CK, Swan C, Richards S, Hunter T, Ebejer MJ, Felice AE, Ellul-Micallef R, Hall IP (2004) Novel polymorphisms influencing transcription of the human CHRM2 gene in airway smooth muscle. Am J Respir Cell Mol Biol 30 :678-686

Fernandez-Canon JM, Hejna J, Reifsteck C, Olson S, Grompe M (1999) Gene structure, chromosomal location, and expression pattern of maleylacetoacetate isomerase. Genomics 58 :263-269

Foti D, Iuliano R, Chiefari E, Brunetti A (2003) A nucleoprotein complex containing Sp1, C/EBP beta, and HMGI-Y controls human insulin receptor gene transcription. Mol Cell Biol 23 :2720-2732

Gerrish K, Cissell MA, Stein R (2001) The role of hepatic nuclear factor 1 alpha and PDX-1 in transcriptional regulation of the pdx-1 gene. J Biol Chem 276 :47775-47784

Granadino B, Beltran-Valero de Bernabe D, Fernandez-Canon JM, Penalva MA, Rodriguez de Cordoba S (1997) The human homogentisate 1,2-dioxygenase (HGO) gene. Genomics 43 :115-122

Grompe M, al-Dhalimy M, Finegold M, Ou CN, Burlingame T, Kennaway NG, Soriano P (1993) Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice. Genes Dev 7 :2298-2307

Grompe M, Overturf K, al-Dhalimy M, Finegold M (1998) Therapeutic trials in the murine model of hereditary tyrosinaemia type I: a progress report. J Inherit Metab Dis 21 :518-531

Grompe M, St-Louis M, Demers SI, al-Dhalimy M, Leclerc B, Tanguay RM (1994) A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I. N Engl J Med 331 :353-357

Guimond J, Devost D, Brodeur H, Mader S, Bhat PV (2002) Characterization of the rat RALDH1 promoter. A functional CCAAT and octamer motif are critical for basal promoter activity. Biochim Biophys Acta 1579 :81-91

Hargrove JL, Mackin RB (1984) Organ specificity of glucocorticoid-sensitive tyrosine aminotransferase. Separation from aspartate aminotransferase isoenzymes. J Biol Chem 259 :386-393

Heinemeyer T, Wingender E, Reuter I, Hermjakob H, Kel AE, Kel OV, Ignatieva EV, Ananko EA, Podkolodnaya OA, Kolpakov FA, Podkolodny NL, Kolchanov NA (1998) Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL. Nucleic Acids Res 26 :362-367

Higuchi H, Grambihler A, Canbay A, Bronk SF, Gores GJ (2004) Bile acids up-regulate death receptor 5/TRAIL-receptor 2 expression via a c-Jun N-terminal kinase-dependent pathway involving Sp1. J Biol Chem 279 :51-60

Hung HL, Pollak ES, Kudaravalli RD, Arruda V, Chu K, High KA (2001) Regulation of human coagulation factor X gene expression by GATA-4 and the Sp family of transcription factors. Blood 97 :946-951

Ish-Horowicz D, Burke JF (1981) Rapid and efficient cosmid cloning. Nucleic Acids Res 9 :2989-2998

Javahery R, Khachi A, Lo K, Zenzie-Gregory B, Smale ST (1994) DNA sequence requirements for transcriptional initiator activity in mammalian cells. Mol Cell Biol 14 :116-127

Jorquera R, Tanguay RM (1997) The mutagenicity of the tyrosine metabolite, fumarylacetoacetate, is enhanced by glutathione depletion. Biochem Biophys Res Commun 232 :42-48

Jorquera R, Tanguay RM (1999) Cyclin B-dependent kinase and caspase-1 activation precedes mitochondrial dysfunction in fumarylacetoacetate-induced apoptosis. Faseb J 13 :2284-2298

Jorquera R, Tanguay RM (2001) Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability. Hum Mol Genet 10 :1741-1752

Jung D, Hagenbuch B, Gresh L, Pontoglio M, Meier PJ, Kullak-Ublick GA (2001) Characterization of the human OATP-C (SLC21A6) gene promoter and regulation of liver-specific OATP genes by hepatocyte nuclear factor 1 alpha. J Biol Chem 276 :37206-37214

Kaczynski J, Cook T, Urrutia R (2003) Sp1- and Kruppel-like transcription factors. Genome Biol 4 :206

Kadonaga JT, Carner KR, Masiarz FR, Tjian R (1987) Isolation of cDNA encoding transcription factor Sp1 and functional analysis of the DNA binding domain. Cell 51 :1079-1090

Kawai Y, Asai K, Miura Y, Inoue Y, Yamamoto M, Moriyama A, Yamamoto N, Kato T (2003) Structure and promoter activity of the human glia maturation factor-gamma gene: a TATA-less, GC-rich and bidirectional promoter. Biochim Biophys Acta 1625 :246-252

Kelsey G (1996) Communication personnelle aux Dr. Maryse St-Louis et Dr. Robert M. Tanguay.

Kelsey G, Ruppert S, Beermann F, Grund C, Tanguay RM, Schutz G (1993) Rescue of mice homozygous for lethal albino deletions: implications for an animal model for the human liver disease tyrosinemia type 1. Genes Dev 7 :2285-2297

Kelsey G, Schedl A, Ruppert S, Niswander L, Magnuson T, Klebig ML, Rinchik EM, Schutz G (1992) Physical mapping of the albino-deletion complex in the mouse to localize alf/hsdr-1, a locus required for neonatal survival. Genomics 14 :275-287

Kelsey G, Schutz G (1993) Lessons from lethal albino mice. Curr Opin Genet Dev 3 :259-264

Klebig ML, Russell LB, Rinchik EM (1992) Murine fumarylacetoacetate hydrolase (Fah) gene is disrupted by a neonatally lethal albino deletion that defines the hepatocyte-specific developmental regulation 1 (hsdr-1) locus. Proc Natl Acad Sci U S A 89 :1363-1367

Kolb A (2003) The first intron of the murine beta-casein gene contains a functional promoter. Biochem Biophys Res Commun 306 :1099-1105

Kutach AK, Kadonaga JT (2000) The downstream promoter element DPE appears to be as widely used as the TATA box in Drosophila core promoters. Mol Cell Biol 20 :4754-4764

Kvittingen EA, Halvorsen S, Jellum E (1983) Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia. Pediatr Res 17 :541-544

Kvittingen EA, Rootwelt H, Berger R, Brandtzaeg P (1994) Self-induced correction of the genetic defect in tyrosinemia type I. J Clin Invest 94 :1657-1661

Kvittingen EA, Rootwelt H, Brandtzaeg P, Bergan A, Berger R (1993) Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect. J Clin Invest 91 :1816-1821

Labelle Y, Phaneuf D, Leclerc B, Tanguay RM (1993) Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity. Hum Mol Genet 2 :941-946

Labelle Y, Phaneuf D, Tanguay RM (1991) Cloning and expression analysis of a cDNA encoding fumarylacetoacetate hydrolase: post-transcriptional modulation in rat liver and kidney. Gene 104 :197-202

La Du BN. (2001) Alkaptonuria in The metabolic & molecular bases of inherited disease, 8e édition. In: CR Scriver AB, D Valle, WS Sly (ed). McGraw-Hill, New York ; Montreal, pp 2109-2124

Lantum HB, Baggs RB, Krenitsky DM, Board PG, Anders MW (2002) Immunohistochemical localization and activity of glutathione transferase zeta (GSTZ1-1) in rat tissues. Drug Metab Dispos 30 :616-625

LaVoie HA (2003) The role of GATA in mammalian reproduction. Exp Biol Med (Maywood) 228 :1282-1290

Lee TI, Young RA (2000) Transcription of eukaryotic protein-coding genes. Annu Rev Genet 34 :77-137

Levinson-Dushnik M, Benvenisty N (1997) Involvement of hepatocyte nuclear factor 3 in endoderm differentiation of embryonic stem cells. Mol Cell Biol 17 :3817-3822

Lindblad B, Lindstedt S, Steen G (1977) On the enzymic defects in hereditary tyrosinemia. Proc Natl Acad Sci U S A 74 :4641-4645

Lindstedt S, Holme E, Lock EA, Hjalmarson O, Strandvik B (1992) Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet 340 :813-817

Luijerink MC, Jacobs SM, van Beurden EA, Koornneef LP, Klomp LW, Berger R, van den Berg IE (2003) Extensive changes in liver gene expression induced by hereditary tyrosinemia type I are not normalized by treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC). J Hepatol 39 :901-909

Mao J, Chirala SS, Wakil SJ (2003) Human acetyl-CoA carboxylase 1 gene: presence of three promoters and heterogeneity at the 5'-untranslated mRNA region. Proc Natl Acad Sci U S A 100 :7515-7520

Mayor C, Brudno M, Schwartz JR, Poliakov A, Rubin EM, Frazer KA, Pachter LS, Dubchak I (2000) VISTA : visualizing global DNA sequence alignments of arbitrary length. Bioinformatics 16 :1046-1047

Merika M, Thanos D (2001) Enhanceosomes. Curr Opin Genet Dev 11 :205-208

Mitchell GA, Grompe M, Lambert MA, Tanguay RM (2001) Hypertyrosinemia in The metabolic & molecular bases of inherited disease, 8e édition. In: CR Scriver AB, D Valle, WS Sly (ed). McGraw-Hill, New York ; Montreal, pp 1777-1806

Montini E, Held PK, Noll M, Morcinek N, Al-Dhalimy M, Finegold M, Yant SR, Kay MA, Grompe M (2002) In vivo correction of murine tyrosinemia type I by DNA-mediated transposition. Mol Ther 6 :759-769

Naiki T, Nagaki M, Shidoji Y, Kojima H, Imose M, Kato T, Ohishi N, Yagi K, Moriwaki H (2002) Analysis of gene expression profile induced by hepatocyte nuclear factor 4alpha in hepatoma cells using an oligonucleotide microarray. J Biol Chem 277 :14011-14019

Nitsch D, Boshart M, Schutz G (1993) Activation of the tyrosine aminotransferase gene is dependent on synergy between liver-specific and hormone-responsive elements. Proc Natl Acad Sci U S A 90 :5479-5483

Nitsch D, Schutz G (1993) The distal enhancer implicated in the developmental regulation of the tyrosine aminotransferase gene is bound by liver-specific and ubiquitous factors. Mol Cell Biol 13 :4494-4504

Overturf K, Al-Dhalimy M, Manning K, Ou CN, Finegold M, Grompe M (1998) Ex vivo hepatic gene therapy of a mouse model of Hereditary Tyrosinemia Type I. Hum Gene Ther 9 :295-304

Overturf K, al-Dhalimy M, Ou CN, Finegold M, Tanguay R, Lieber A, Kay M, Grompe M (1997) Adenovirus-mediated gene therapy in a mouse model of hereditary tyrosinemia type I. Hum Gene Ther 8 :513-521

Overturf K, Al-Dhalimy M, Tanguay R, Brantly M, Ou CN, Finegold M, Grompe M (1996) Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I. Nat Genet 12 :266-273

Palii SS, Chen H, Kilberg MS (2004) Transcriptional control of the human sodium-coupled neutral amino acid transporter system A gene by amino acid availability is mediated by an intronic element. J Biol Chem 279 :3463-3471

Patient RK, McGhee JD (2002) The GATA family (vertebrates and invertebrates). Curr Opin Genet Dev 12 :416-422

Pederson T, Politz JC (2000) The nucleolus and the four ribonucleoproteins of translation. J Cell Biol 148 :1091-1095

Petersenn S, Rasch AC, Bohnke C, Schulte HM (2002) Identification of an upstream pituitary-active promoter of human somatostatin receptor subtype 5. Endocrinology 143 :2626-2634

Phaneuf D, Hadchouel M, Tanguay RM, Brechot C, Ferry N (1995) Correction of fumarylacetoacetate hydrolase deficiency (type I tyrosinemia) in cultured human fibroblasts by retroviral-mediated gene transfer. Biochem Biophys Res Commun 208 :957-963

Phaneuf D, Labelle Y, Berube D, Arden K, Cavenee W, Gagne R, Tanguay RM (1991) Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15. Am J Hum Genet 48 :525-535

Philipsen S, Suske G (1999) A tale of three fingers: the family of mammalian Sp/XKLF transcription factors. Nucleic Acids Res 27 :2991-3000

Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA (2002) Natural history of alkaptonuria. N Engl J Med 347 :2111-2121

Poudrier J, Lettre F, Scriver CR, Larochelle J, Tanguay RM (1998) Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes. Mol Genet Metab 64 :119-125

Poudrier J, St-Louis M, Lettre F, Gibson K, Prevost C, Larochelle J, Tanguay RM (1996) Frequency of the IVS12 + 5G-->A splice mutation of the fumarylacetoacetate hydrolase gene in carriers of hereditary tyrosinaemia in the French Canadian population of Saguenay-Lac-St-Jean. Prenat Diagn 16 :59-64

Quandt K, Frech K, Karas H, Wingender E, Werner T (1995) MatInd and MatInspector: new fast and versatile tools for detection of consensus matches in nucleotide sequence data. Nucleic Acids Res 23 :4878-4884

Ramji DP, Foka P (2002) CCAAT/enhancer-binding proteins: structure, function and regulation. Biochem J 365 :561-575

Reisinger K, Kaufmann R, Gille J (2003) Increased Sp1 phosphorylation as a mechanism of hepatocyte growth factor (HGF/SF)-induced vascular endothelial growth factor (VEGF/VPF) transcription. J Cell Sci 116 :225-238

Rhee J, Inoue Y, Yoon JC, Puigserver P, Fan M, Gonzalez FJ, Spiegelman BM (2003) Regulation of hepatic fasting response by PPARgamma coactivator-1alpha (PGC-1): requirement for hepatocyte nuclear factor 4alpha in gluconeogenesis. Proc Natl Acad Sci U S A 100 :4012-4017

Ruetschi U, Rymo L, Lindstedt S (1997) Human 4-hydroxyphenylpyruvate dioxygenase gene (HPD). Genomics 44 :292-299

Ruppert S, Kelsey G, Schedl A, Schmid E, Thies E, Schutz G (1992) Deficiency of an enzyme of tyrosine metabolism underlies altered gene expression in newborn liver of lethal albino mice. Genes Dev 6 :1430-1443

Sassa S, Kappas A (1983) Hereditary tyrosinemia and the heme biosynthetic pathway. Profound inhibition of delta-aminolevulinic acid dehydratase activity by succinylacetone. J Clin Invest 71 :625-634

Schmidt SR, Gehrig A, Koehler MR, Schmid M, Muller CR, Kress W (1997) Cloning of the homogentisate 1,2-dioxygenase gene, the key enzyme of alkaptonuria in mouse. Mamm Genome 8 :168-171

Schrem H, Klempnauer J, Borlak J (2002) Liver-enriched transcription factors in liver function and development. Part I: the hepatocyte nuclear factor network and liver-specific gene expression. Pharmacol Rev 54 :129-158

Schrem H, Klempnauer J, Borlak J (2004) Liver-Enriched Transcription Factors in Liver Function and Development. Part II: the C/EBPs and D Site-Binding Protein in Cell Cycle Control, Carcinogenesis, Circadian Gene Regulation, Liver Regeneration, Apoptosis, and Liver-Specific Gene Regulation. Pharmacol Rev 56 :291-330

Schweizer-Groyer G, Groyer A, Cadepond F, Grange T, Baulieu EE, Pictet R (1994) Expression from the tyrosine aminotransferase promoter (nt -350 to +1) is liver-specific and dependent on the binding of both liver-enriched and ubiquitous trans-acting factors. Nucleic Acids Res 22 :1583-1592

Scriver CR (2001) Human genetics: lessons from Quebec populations. Annu Rev Genomics Hum Genet 2 :69-101

Shen W, Scearce LM, Brestelli JE, Sund NJ, Kaestner KH (2001) Foxa3 (hepatocyte nuclear factor 3gamma ) is required for the regulation of hepatic GLUT2 expression and the maintenance of glucose homeostasis during a prolonged fast. J Biol Chem 276 :42812-42817

Siu F, Chen C, Zhong C, Kilberg MS (2001) CCAAT/enhancer-binding protein-beta is a mediator of the nutrient-sensing response pathway that activates the human asparagine synthetase gene. J Biol Chem 276 :48100-48107

Smale ST (1997) Transcription initiation from TATA-less promoters within eukaryotic protein-coding genes. Biochim Biophys Acta 1351 :73-88

Smale ST (2001) Core promoters: active contributors to combinatorial gene regulation. Genes Dev 15 :2503-2508

St-Louis M (1996) Mutations et expression du gène de la fumarylacétoacétate hydrolase (FAH). Thèse, Université Laval, Ste-Foy

St-Louis M, Tanguay RM (1997) Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview. Hum Mutat 9 :291-299

Strife CF, Zuroweste EL, Emmett EA, Finelli VN, Petering HG, Berry HK (1977) Tyrosinemia with acute intermittent porphyria: aminolevulinic acid dehydratase deficiency related to elevated urinary aminolevulinic acid levels. J Pediatr 90 :400-404

Sun MS, Hattori S, Kubo S, Awata H, Matsuda I, Endo F (2000) A mouse model of renal tubular injury of tyrosinemia type 1: development of de Toni Fanconi syndrome and apoptosis of renal tubular cells in Fah/Hpd double mutant mice. J Am Soc Nephrol 11 :291-300

Suske G (1999) The Sp-family of transcription factors. Gene 238 :291-300

Suzuki Y, Tsunoda T, Sese J, Taira H, Mizushima-Sugano J, Hata H, Ota T, Isogai T, Tanaka T, Nakamura Y, Suyama A, Sakaki Y, Morishita S, Okubo K, Sugano S (2001) Identification and characterization of the potential promoter regions of 1031 kinds of human genes. Genome Res 11 :677-684

Tanguay RM, Jorquera R, Poudrier J, St-Louis M (1996) Tyrosine and its catabolites: from disease to cancer. Acta Biochim Pol 43 :209-216

Tanguay RM, Valet JP, Lescault A, Duband JL, Laberge C, Lettre F, Plante M (1990) Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I). Am J Hum Genet 47 :308-316

Timm DE, Mueller HA, Bhanumoorthy P, Harp JM, Bunick GJ (1999) Crystal structure and mechanism of a carbon-carbon bond hydrolase. Structure Fold Des 7 :1023-1033

Tremblay JJ, Viger RS (2003) Novel roles for GATA transcription factors in the regulation of steroidogenesis. J Steroid Biochem Mol Biol 85 :291-298

Turner BM (2002) Cellular memory and the histone code. Cell 111 :285-291

Uchida C, Oda T, Sugiyama T, Otani S, Kitagawa M, Ichiyama A (2002) The role of Sp1 and AP-2 in basal and protein kinase A--induced expression of mitochondrial serine:pyruvate aminotransferase in hepatocytes. J Biol Chem 277 :39082-39092

Vallet V, Antoine B, Chafey P, Vandewalle A, Kahn A (1995) Overproduction of a truncated hepatocyte nuclear factor 3 protein inhibits expression of liver-specific genes in hepatoma cells. Mol Cell Biol 15 :5453-5460

van Driel R, Fransz PF, Verschure PJ (2003) The eukaryotic genome: a system regulated at different hierarchical levels. J Cell Sci 116 :4067-4075

Vogel A, van Den Berg IE, Al-Dhalimy M, Groopman J, Ou CN, Ryabinina O, Iordanov MS, Finegold M, Grompe M (2004) Chronic liver disease in murine hereditary tyrosinemia type 1 induces resistance to cell death. Hepatology 39 :433-443

Wang G, Leiter AB, Englander EW, Greeley GH, Jr. (2004) Insulin-like growth factor I increases rat peptide YY promoter activity through Sp1 binding sites. Endocrinology 145 :659-666

Whetstine JR, Flatley RM, Matherly LH (2002) The human reduced folate carrier gene is ubiquitously and differentially expressed in normal human tissues: identification of seven non-coding exons and characterization of a novel promoter. Biochem J 367 :629-640

Yang TT, Chow CW (2003) Transcription cooperation by NFAT.C/EBP composite enhancer complex. J Biol Chem 278 :15874-15885