Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH)

Genomics

Volumn 39, Issue 2, 1997, Pages 127-135

  Rogers, Geraldine R ^a   Markova, Nedialka G ^a   De Laurenzi, Vincenzo ^a,b   Rizzo, William B ^c   Compton, John G ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

^c VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALDEHYDE DEHYDROGENASE;

ARTICLE; CODON; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; ENZYME DEFICIENCY; ENZYME SPECIFICITY; EXON; GENE EXPRESSION REGULATION; GENE MUTATION; GENETIC ORGANIZATION; HUMAN; HUMAN CELL; MEMBRANE BINDING; MENTAL DEFICIENCY; PATHOGENESIS; POLYADENYLATION; PRIORITY JOURNAL; PROMOTER REGION; SJOEGREN LARSSON SYNDROME; SPASTICITY; TATA BOX;

EID: 0031568268     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.4501     Document Type: Article

References (25)

1. Azizkhan, J. C., Jensen, D. E., Pierce, A. J., and Wade, M. (1993). Transcription from TATA-less promoters: Dihydrofolate reductase as a model. Crit. Rev. Eukaryotic Gene Expression 3(4): 229-254.
2. Decker, C. J., and Parker, R. (1995). Diversity of cytoplasmic functions for the 3′ untranslated region of eukaryotic transcripts. Curr. Opin. Cell Biol. 7: 386-392.
3. De Laurenzi, V., Rogers, G. R., Hamrock, D. J., Marekov, L. N., Steinert, P. M., Compton, J. G., Markova, N., and Rizzo, W. B. (1996). Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nature Genet. 12: 52-57.
4. Hiraoka, L. R., Hsu, L., and Hsieh, C.-L. (1995). Assignment of ALDH3 to human chromosome 17p11.2 and ALDH5 to human chromosome 9p13. Genomics 25: 323-325.
5. Hsu, L. C., Chang, W.-C., Shibuya, A., and Yoshida, A. (1992). Human stomach aldehyde dehydrogenase: DNA and genomic cloning, primary structure, and expression in Escherichia coli. J. Biol. Chem. 267: 3030-3037.
6. Hsu, L. C., Chang, W.-C., Lin, S. W., and Yoshida, A. (1995). Cloning and characterization of genes encoding four additional human aldehyde dehydrogenase isozymes. In "Enzymology and Molecular Biology of Carbonyl Metabolism" (H. Weiner et al., Eds.) Vol. 5, pp. 159-168, Plenum, New York.
7. Jang, S.-I, Steinert, P. M., and Markova, N. G. (1996). Activator Protein 1 activity is involved in the regulation of the cell type specific expression from the proximal promoter of the human profilaggrin gene. J. Biol Chem. 271(39): 24105-24114.
8. Kelson, T. L., Craft, D. A., and Rizzo, W. B. (1992). Carrier detection for Sjögren-Larsson syndrome. J. Inherit. Metab. Dis. 15: 105-111.
9. Kelson, T. L., Secor McVoy, J. R., and Rizzo, W. B. Human liver fatty aldehyde dehydrogenase: Micosomal localization, purification, and biochemical characterization. Biochim. Biophys. Acta, in press.
10. Lacour, M., Middleton-Price, R., and Harper, J. I. (1996). Confirmation of linkage of Sjögren-Larsson syndrome to chromosome 17 in families of different ethnic origins. J. Med. Genet. 33: 258-259.
11. Lindahl, R. (1992). Aldehyde dehydrogenases and their role in carcinogenisis. Crit. Rev. Biochem. Mol. Biol. 27: 283-335.
12. Lindahl, R., and Petersen, D. R. (1991). Lipid aldehyde oxidation as a physiological role for class 3 aldehyde dehydrogenases. Biochem. Pharmacol. 41: 1583-1587.
13. Markova, N. G., Marekov, L. N., Chipev, C. C., Gan, S.-Q., Idler, W. W., and Steinert, P. M. (1993). Profilaggrin is a major epidermal calcium-binding protein. Mol. Cell. Biol. 13: 613-625.
14. Masaki, K., Masaki, R., Yamamoto, A., and Tashiro, Y. (1994). Microsomal aldehyde dehydrogenase is localized to the endoplasmic reticulum via its carboxyl-terminal 35 amino acids. J. Cell Biol. 126: 1407-1420.
15. Miyauchi, K., Masaki, R., Taketani, S., Yamamoto, A., Akayama, M., and Tashiro, Y. (1991). Molecular cloning, sequencing and expression of cDNA for rat liver microsomal aldehyde dehydrogenase. J. Biol. Chem. 266: 19536-19542.
16. Pigg, M., Jagell, S., Sillén, A., Weissenbach, J., Gustavson, K-H., and Wadelius, C. (1994). The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association. Nature Genet. 8: 361-364.
17. Richards, B., Skoletsky, J., Shuber, A. P., Balfour, R., Stern, R. C., Dorkin, H. L., Parad, R. B., Witt, D., and Klinger, K. W. (1993). Mulitplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs. Hum. Mol. Genet. 2: 159-163.
18. Rizzo, W. B. (1993). Sjögren-Larsson syndrome. Semin. Dermatol. 12: 210-218.
19. Rizzo, W. B. Sjögren-Larsson syndrome. In "Handbook of Clinical Neurology" (P. J. Vinken and G. W. Bruyn, Eds.), Elsevier, Amsterdam, in press.
20. Rizzo, W. B., and Craft, D. A. (1991). Sjögren-Larsson syndrome: Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol :NAD+ oxidoreductase in cultured fibroblasts. J. Clin. Invest. 88: 1643-1648.
21. Rogers, G. R., Rizzo, W. B., Zlotogorski, A., Hashem, N., Lee, M., Compton, J. G., and Bale, S. J. (1995). Genetic homogeneity in Sjögren-Larsson syndrome: Linkage to chromosome 17p in families of different non-Swedish ethnic origins. Am. J. Hum. Genet. 57: 1123-1129.
22. Shapiro, M., and Senapathy, P. (1987). RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression. Nucleic Acids Res. 17: 7155-7175.
23. Sjögren, T., and Larsson, T. (1957). Oligophrenia in combination with congenital ichthyosis and spastic disorders. Acta Psychiatr. Neurol. Scand. 32(Suppl.), 1-113.
24. Smale, S. T., and Baltimore, D. (1989). The "initiator" as a transcription control element. Cell 57: 103-113.
25. Vasiliou, V., Kozak, C. A., Lindahl, R., and Nebert, D. W. (1996). Mouse microsomal Class 3 aldehyde dehydrogenase: AHD3 cDNA sequence, inducibility by dioxin and clofibrate, and genetic mapping. DNA Cell Biol. 15: 235-245.