Structure and organization of the human metaxin gene (MTX) and pseudogene

Genomics

Volumn 33, Issue 2, 1996, Pages 177-184

  Long, George L ^a,b   Winfield, Suzanne ^c   Adolph, Kenneth W ^a,d   Ginns, Edwafd I ^c   Bornstein, Paul ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF VERMONT   (United States)

^c NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^d UNIVERSITY OF MINNESOTA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLCERAMIDASE; METAXIN; PROTEIN; THROMBOSPONDIN; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; DNA SEQUENCE; EXON; GENE DUPLICATION; GENE STRUCTURE; GENETIC TRANSCRIPTION; HUMAN; HUMAN TISSUE; INTRON; MOUSE; NONHUMAN; OPEN READING FRAME; PRIORITY JOURNAL; PROMOTER REGION; PSEUDOGENE; REGULATOR GENE; RNA TRANSLATION; SEQUENCE HOMOLOGY; TRANSLATION INITIATION;

EID: 0029878970     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.0181     Document Type: Article

References (24)

1. Adolph, K. W., Long, G. L., Winfield, S., Ginns, E. I., and Bornstein, P. (1995). Structure and organization of the human thrombospondin 3 gene (THBS3). Genomics 27: 329-336.
2. Armstrong, L. C., Vos, H., Bergman, B., and Bornstein, P. (1995). Metaxin, an essential gene in mice, encodes a mitochondrial protein. Mol. Biol. Cell 6: 434a.
3. Barranger, J. A., and Ginns, E. I. (1989). Glucosylceramide lipidoses; Gaucher disease. In "The Metabolic Basis of Inherited Disease" (C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, Eds.), 6th ed., pp. 1677-1698, McGraw-Hill, New York.
4. Beutler, E. (1993). Gaucher disease is a paradigm of current issues regarding single gene mutations of humans. Proc. Natl. Acad. Sci. USA 90: 5384-5390.
5. Boam, D. S. W., Davidson, I., and Chambon, P. (1995). A TATA-less promoter containing binding sites for ubiquitous transcription factors mediates cell type-specific regulation of the gene for transcription enhancer factor-1 (TEF-1). J. Biol. Chem. 270: 19487-19494.
6. Bornstein, P., McKinney, C. E., LaMarca, M. E., Winfield, S., Shingu, T., Devarayalu, S., Vos, H. L., and Ginns, E. I. (1995). Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: Implications for Gaucher disease. Proc. Natl. Acad. Sci. USA 92: 4547-4551.
7. Breathnach, R., Benoist, C., O'Hare, K., Gannon, G., and Chambon, P. (1978). Ovalbumin gene: Evidence for a leader sequence in mRNA and DNA sequences at the exon-intron boundaries. Proc. Natl. Acad. Sci. USA 75: 4853-4857.
8. Ginns, E. I., Winfield, S., Sidransky, E., Long, G. L., and Bornstein, P. (1994). Characterization of a novel gene at the Gaucher disease locus spanning the region between the glucocerebrosidase (GC) pseudogene and thrombospondin (TSP)3. Am. J. Hum. Genet. 55: A325.
9. Gratzer, S., Lithgow, T., Bauer, R. E., Lamping, E., Paltauf, F., Kohlwein, S. D., Haucke, V., Junne, T., Schatz, G., and Horst, M. (1995). Mas37p, a novel receptor subunit for protein import into mitochondria. J. Cell Biol. 129: 25-34.
10. Hill, K. K., Bedian, V., Juang, J-L., and Hoffmann, F. M. (1995). Genetic interactions between the Drosophila Abelson (AbI) tyrosine kinase and failed axon connections (Fax), a novel protein in axon bundles. Genetics 141: 595-606.
11. Horowitz, M., Wilder, S., Horowitz, Z., Reiner, O., Gelbart, T., and Beutler, E. (1989). The human glucocerebrosidase gene and pseudogene: Structure and evolution. Genomics 4: 87-96.
12. Imai, K., Nakamura, M., Yamada, M., Asano, A., Yokoyama, S., Tsuji, S., and Ginns, E. I. (1993). A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells. Gene 136: 365-368.
13. Iruela-Arispe, M. L., Liska, D. J., Sage, E. H., and Bornstein, P. (1993). Differential expression of thrombospondin 1, 2, and 3 during murine development. Dev. Dyn. 197: 40-56.
14. Kozak, M. (1989). The scanning model for translation: An update. J. Cell Biol. 108: 229-241.
15. Kozak, M. (1991). A short leader sequence impairs the fidelity of initiation by eukaryotic ribosomes. Gene Expression 1: 111-115.
16. Lancaster, C. A., Peat, N., Duhig, T., Wilson, D., Taylor-Papadimitriou, J., and Gendler, S. (1990). Structure and expression of the human polymorphic epithelial mucin gene: An expressed VNTR unit. Biochem. Biophys. Res. Commun. 173: 1019-1029.
17. O'Neill, R. R., Tokoro, T., Kozak, C. A., and Brady, R. O. (1989). Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequences. Proc. Natl. Acad. Sci. USA 86: 5049-5053.
18. Patthy, L. (1987). Intron-dependent evolution: Preferred types of exons and introns. FEBS Lett. 214: 1-7.
19. Sidransky, E., Sherer, D. M., and Ginns, E. I. (1992). Gaucher disease in the neonate: A distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene. Pediatr. Res. 32: 494-498.
20. Sorge, J., Gross, E., West, C., and Beutler, E. (1990). High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease. J. Clin. Invest. 86: 1137-1141.
21. Spicer, A. P., Parry, G., Patton, S., and Gendler, S. J. (1991). Molecular cloning and analysis of the mouse homologue of the tumor-associated mucin, MUC1, reveals conservation of potential O-glycosylation sites, transmembrane, and cytoplasmic domains and a loss of minisatellite-like polymorphism. J. Biol. Chem. 266:15099-15109.
22. Tybulewicz, V. L. J., Tremblay, M. L., LaMarca, M. E., Willemsen, R., Stubblefield, B. K., Winfield, S., Zablocka, B., Sidransky, E., Martin, B. M., Huang, S. P., Mintzer, K. A., Westphal, H., Mulligan, R. C., and Ginns, E. I. (1992). Animal model of Gaucher disease from targeted disruption of the mouse glucocerebrosidase gene. Nature 357: 407-410.
23. Vos, H. L., de Vries, Y., and Hilkens, J. (1991). The mouse episialin (MUC1) gene and its promoter: Rapid evolution of the repetitive domain in the protein. Biochem. Biophys. Res. Commun. 181:121-130.
24. Vos, H. L., Mockensturm-Wilson, M., Rood, P. M. L., Maas, A. M. C. E., Duhig, T., Gendler, S. J., and Bornstein, P. (1995). A tightly organized, conserved gene cluster on mouse chromosome 3 (E3-F1). Mamm. Genome 6: 820-822.