Widely spaced alternative promoters, conserved between human and rodent, control expression of the opitz syndrome gene MID1

Genomics

Volumn 80, Issue 5, 2002, Pages 499-508

  Landry, Josette Renée ^a   Mager, Dixie L ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

5 untranslated region; Alternative promoters; Gene regulation; Long terminal repeat; Molecular evolution; Splicing

Indexed keywords

5' UNTRANSLATED REGION; ARTICLE; EXON; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC DISORDER; HUMAN; MAMMAL; MID1 GENE; NONHUMAN; NUCLEOTIDE SEQUENCE; OPITZ SYNDROME; PRIORITY JOURNAL; PROMOTER REGION; RODENT; TISSUE SPECIFICITY; TRANSCRIPTION INITIATION SITE; TRANSCRIPTION REGULATION; ALTERNATIVE RNA SPLICING; ANIMAL; BIOSYNTHESIS; DNA FLANKING REGION; GENETICS; METABOLISM; MOLECULAR GENETICS; SEQUENCE HOMOLOGY; SMITH LEMLI OPITZ SYNDROME; TISSUE DISTRIBUTION; X CHROMOSOME;

MAMMALIA; RODENTIA;

DNA; LIGASE; MICROTUBULE PROTEIN; MID1 PROTEIN, HUMAN; NUCLEAR PROTEIN; TRANSCRIPTION FACTOR; ZINC FINGER PROTEIN;

5' FLANKING REGION; 5' UNTRANSLATED REGIONS; ALTERNATIVE SPLICING; ANIMALS; BASE SEQUENCE; DNA; EXONS; GENE EXPRESSION; HUMANS; LIGASES; MICROTUBULE PROTEINS; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; PROMOTER REGIONS (GENETICS); RODENTIA; SEQUENCE HOMOLOGY; SMITH-LEMLI-OPITZ SYNDROME; TISSUE DISTRIBUTION; TRANSCRIPTION FACTORS; X CHROMOSOME; ZINC FINGERS;

EID: 0036430553     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0888-7543(02)96863-1     Document Type: Article

References (29)

1. Opitz, J. M. (1987). G syndrome (hypertelorism with esophageal abnormality and hypospadias, or hypospadias-dysphagia, or "Opitz-Frias" or "Opitz-G"; syndrome)-perspective in 1987 and bibliography. Am. J. Med. Genet. 28: 275-285.
2. Robin, N. H.,et al. (1995). Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nat. Genet. 11: 459-461.
3. Robin, N. H., Opitz, J. M., and Muenke, M. (1996). Opitz G/BBB syndrome: Clinical comparisons of families linked to Xp22 and 22q, and a review of the literature. Am. J. Med. Genet. 62: 305-317.
4. Quaderi, N. A.,et al. (1997). Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat. Genet. 17: 285-291.
5. Gaudenz, K.,et al. (1998). Opitz G/BBB syndrome in Xp22: Mutations in the MID1 gene cluster in the carboxy-terminal domain. Am. J. Hum. Genet. 63: 703-710.
6. Cox, T. C.,et al. (2000). New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. Hum. Mol. Genet. 9: 2553-2562.
7. Cainarca, S., Messali, S., Ballabio, A., and Meroni, G. (1999). Functional characterization of the Opitz syndrome gene product (midin): Evidence for homodimerization and association with microtubules throughout the cell cycle. Hum. Mol. Genet. 8: 1387-1396.
8. Schweiger, S.,et al. (1999). The Opitz syndrome gene product, MID1, associates with microtubules. Proc. Natl. Acad. Sci. USA 96: 2794-2799.
9. Liu, J., Prickett, T. D., Elliott, E., Meroni, G., and Brautigan, D. L. (2001). Phosphorylation and microtubule association of the Opitz syndrome protein mid-1 is regulated by protein phosphatase 2A via binding to the regulatory subunit alpha 4. Proc. Natl. Acad. Sci. USA 98: 6650-6655.
10. Trockenbacher, A.,et al. (2001). MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation. Nat. Genet. 29: 287-294.
11. Landry, J.-R., Rouhi, A., Medstrand, P., and Mager, D. L. (2002). The Opitz syndrome gene Mid1 is transcribed from a human endogenous retroviral promoter. Mol. Biol. Evol. (in press).
12. Perry, J., Feather, S., Smith, A., Palmer, S., and Ashworth, A. (1998). The human FXY gene is located within Xp22.3: Implications for evolution of the mammalian X chromosome. Hum. Mol. Genet. 7: 299-305.
13. Van den Veyver, I. B., Cormier, T. A., Jurecic, V., Baldini, A., and Zoghbi, H. Y. (1998). Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22. Genomics 51: 251-261.
14. Ayoubi, T. A., and Van De Ven, W. J. (1996). Regulation of gene expression by alternative promoters. Faseb J. 10:453-460.
15. Munoz-Sanjuan, I., Smallwood, P. M., and Nathans, J. (2000). Isoform diversity among fibroblast growth factor homologous factors is generated by alternative promoter usage and differential splicing. J. Biol. Chem. 275: 2589-2597.
16. Esterbauer, H., Oberkofler, H., Krempler, F., Strosberg, A. D., and Patsch, W. (2000). The uncoupling protein-3 gene is transcribed from tissue-specific promoters in humans but not rodents. J. Biol. Chem. 275: 36394-36399.
17. Bonham, K., Ritchie, S. A., Dehm, S. M., Snyder, K., and Boyd, F. M. (2000). An alternative, human SRC promoter and its regulation by hepatic nuclear factor-1 alpha. J. Biol. Chem. 275: 37604-37611.
18. Anusaksathien, O.,et al. (2001). Tissue-specific and ubiquitous promoters direct the expression of alternatively spliced transcripts from the calcitonin receptor gene. J. Biol. Chem. 276: 22663-22674.
19. Chretien, S.,et al. (1988). Alternative transcription and splicing of the human porpho-bilinogen deaminase gene result either in tissue-specific or in housekeeping expression. Proc. Natl. Acad. Sci. USA 85: 6-10.
20. Kozak, M. (1991). An analysis of vertebrate mRNA sequences: Intimations of translational control. J. Cell. Biol. 115: 887-903.
21. Kozak, M. (1995). Adherence to the first-AUG rule when a second AUG codon follows closely upon the first. Proc. Natl. Acad. Sci. USA 92: 2662-2666.
22. Makalowski, W., Zhang, J., and Boguski, M. S. (1996). Comparative analysis of 1196 orthol-ogous mouse and human full-length mRNA and protein sequences. Genome Res. 6: 846-857.
23. Tatiana, A. T., and Madden, T. L. (1999). Blast 2 sequences - A new tool for comparing protein and nucleotide sequences. FEMS Microbiol. Lett. 174: 247-250.
24. Thompson, J. D., Higgins, D. G., and Gibson, T. J. (1994). CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position specific gap penalties and weight matrix choice. Nucleic Acids Res. 22: 4673-4680.
25. Nicholas, K. B., Nicholas, H. B. J., and Deerfield, D. W. I. (1997). GeneDoc: Analysis and visualization of genetic variation. EMBNEW News 4: 14.
26. Medstrand, P., Lindeskog, M., and Blomberg, J. (1992). Expression of human endogenous retroviral sequences in peripheral blood mononuclear cells of healthy individuals. J. Gen. Virol. 73: 2463-2466.
27. Zhang, Y., and Frohman, M. A. (1997). Using rapid amplification of cDNA ends (RACE) to obtain full-length cDNAs. Methods Mol. Biol. 69: 61-87.
28. Mager, D. L., McQueen, K. L., Wee, V., and Freeman, J. D. (2001). Evolution of natural killer cell receptors: coexistence of functional Ly49 and KIR genes in baboons. Curr. Biol. 11: 626-630.
29. Goodchild, N. L., Wilkinson, D. A., and Mager, D. L. (1993). Recent evolutionary expansion of a subfamily of RTVL-H human endogenous retrovirus-like elements. Virology 196: 778-788.