Natural haplotypes in the regulatory sequences affect human alcohol dehydrogenase 1C (ADH1C) gene expression

Human Mutation

Volumn 25, Issue 2, 2005, Pages 150-155

  Chen, Hui Ju ^a   Tian, Huijun ^a   Edenberg, Howard J ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

ADH1C; Alcohol dehydrogenase; Cis acting element; Gene regulation; Haplotype; SNP; Transcriptional regulation

Indexed keywords

ALCOHOL DEHYDROGENASE; ALCOHOL DEHYDROGENASE 1C; CIS ACTING ELEMENT; ISOENZYME; UNCLASSIFIED DRUG;

ADH1C GENE; ALCOHOL METABOLISM; ARTICLE; ENZYME POLYMORPHISM; GENE; GENE CONTROL; GENE DELETION; GENE FREQUENCY; GENE INSERTION; HAPLOTYPE; HELA CELL; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION REGULATION;

ALCOHOL DEHYDROGENASE; BASE SEQUENCE; CELL LINE; CONSENSUS SEQUENCE; HAPLOTYPES; HELA CELLS; HUMANS; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; REPETITIVE SEQUENCES, NUCLEIC ACID; RESPONSE ELEMENTS; TRANSCRIPTION, GENETIC;

EID: 13444270317     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20127     Document Type: Article

References (19)

1. Bi W, Wu L, Coustry F, de Crombrugghe B, Maity SN. 1997. DNA binding specificity of the CCAAT-binding factor CBF/NF-Y. J Biol Chem 272:26562-26572.
2. Borras E, Coutelle C, Rosell A, Fernandez-Muixi F, Broch M, Crosas B, Hjelmqvist L, Lorenzo A, Gutierrez C, Santos M, Szczepanek M, Heilig M, Quattrocchi P, Farres J, Vidal F, Richart C, Mach T, Bogdal J, Jornvall H, Seitz HK, Couzigou P, Pares X. 2000. Genetic polymorphism of alcohol dehydrogenase in Europeans: the ADH2*2 allele decreases the risk for alcoholism and is associated with ADH3*1. Hepatology 31:984-989.
3. Brown CJ, Zhang L, Edenberg HJ. 1996. Gene expression in a young multigene family: tissue-specific differences in the expression of the human alcohol dehydrogenase genes ADH1, ADH2, and ADH3. DNA Cell Biol 15:187-196.
4. Chen HJ, Carr K, Jerome RE, Edenberg HJ. 2002. A retroviral repetitive element confers tissue-specificity to the human alcohol dehydrogenase 1C (ADH1C) gene. DNA Cell Biol 21:793-801.
5. Collins FS, Brooks LD, Chakravarti A. 1998. A DNA polymorphism discovery resource for research on human genetic variation. Genome Res 8:1229-1231.
6. Edenberg HJ, Bosron WF. 1997. Alcohol detrydrogenases. In: Guengerich FP, editor. Comprehensive toxicology. New York: Pergamon. p 119-131.
7. Edenberg HJ. 2000. Regulation of the mammalian alcohol dehydrogenase genes. Prog Nucleic Acid Res Mol Biol 64:295-341.
8. Eriksson CJ, Fukunaga T, Sarkola T, Chen WJ, Chen CC, Ju JM, Cheng AT, Yamamoto H, Kohlenberg-Muller K, Kimura M, Murayama M, Matsushita S, Kashima H, Higuchi S, Carr L, Viljoen D, Brooke L, Stewart T, Foroud T, Su J, Li TK, Whitfield JB. 2001. Functional relevance of human ADH polymorphism. Alcohol Clin Exp Res 25(5 Suppl ISBRA): 157S-163S.
9. Hoog JO, Heden LO, Larsson K, Jornvall H, von Bahr-Lindstrom H. 1986. The gamma 1 and gamma 2 subunits of human liver alcohol dehydrogenase. cDNA structures, two amino acid replacements, and compatibility with changes in the enzymatic properties. Eur J Biochem 159:215-218.
10. Johnatty SE, Abdellatif M, Shimmin L, Clark RB, Boerwinkle E. 2002. Beta 2 adrenergic receptor 5′ haplotypes influence promoter activity. Br J Pharmacol 137:1213-1216.
11. La Mantia G, Pengue G, Maglione D, Pannuti A, Pascucci A, Lania L. 1989. Identification of new human repetitive sequences: characterization of the corresponding cDNAs and their expression in embryonal carcinoma cells. Nucleic Acids Res 17:5913-5922.
12. Lesch KP, Bengel D, Heils A, Sabol SZ, Greenberg BD, Petri S, Benjamin J, Muller CR, Hamer DH, Murphy DL. 1996. Association of anxiety-related traits with a polymorphism in the serotonin transporter gene regulatory region. Science 274:1527-1531.
13. Long Q, Bengra C, Li C, Kutlar F, Tuan D. 1998. A long terminal repeat of the human endogenous retrovirus ERV-9 is located in the 5′ boundary area of the human beta-globin locus control region. Genomics 54:542-555.
14. Reich T, Edenberg HJ, Goate A, Williams JT, Rice JP, Van Eerdewegh P, Foroud T, Hesselbrock V, Schuckit MA, Bucholz K, Porjesz B, Li TK, Conneally PM, Nurnberger JI Jr, Tischfield JA, Crowe RR, Cloninger CR, Wu W, Shears S, Carr K, Crose C, Willing C, Begleiter H. 1998. Genome-wide search for genes affecting the risk for alcohol dependence. Am J Med Genet 81:207-215.
15. Saccone NL, Kwon JM, Corbett J, Goate J, Rochberg N, Edenberg HJ, Foroud T, Li TK, Begleiter H, Reich T, Rice JP. 2000. A genome screen of maximum number of drinks as an alcoholism phenotype. Am J Med Genet 96:632-637.
16. Thomasson HR, Edenberg HJ, Crabb DW, Mai XL, Jerome RE, Li TK, Wang SP, Lin YT, Lu RB, Yin SJ. 1991. Alcohol and aldehyde dehydrogenase genotypes and alcoholism in Chinese men. Am J Hum Genet 48:677-681.
17. Whitfield JB, Nightingale BN, Bucholz KK, Madden PA, Heath AC, Martin NG. 1998. ADH genotypes and alcohol use and dependence in Europeans. Alcohol Clin Exp Res 22:1463-1469.
18. Williams JT, Begleiter H, Porjesz B, Edenberg HJ, Foroud T, Reich T, Goate A, Van Eerdewegh P, Almasy L, Blangero J. 1999. Joint multipoint linkage analysis of multivariate qualitative and quantitative traits. II. Alcoholism and event-related potentials. Am J Hum Genet 65:1148-1160.
19. Wolfla CE, Ross RA, Crabb DW. 1988. Induction of alcohol dehydrogenase activity and mRNA in hepatoma cells by dexamethasone. Arch Biochem Biophys 263:69-76.