Muscle-specific locus control region activity associated with the human desmin gene

Developmental Biology

Volumn 201, Issue 1, 1998, Pages 26-42

  Raguz, Selina ^a   Hobbs, Carl ^a   Yagüe, Ernesto ^a   Ioannou, Panayiotis A ^b   Walsh, Frank S ^a,c   Antoniou, Michael ^a  

^a GUY S HOSPITAL   (United Kingdom)

^b CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^c GLAXOSMITHKLINE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DESMIN;

ARTICLE; GENE EXPRESSION REGULATION; GENE LOCUS; GENETIC REGULATION; IMMUNOHISTOCHEMISTRY; MOLECULAR CLONING; MYOTOMY; PRIORITY JOURNAL; RNA ANALYSIS; TRANSGENE;

MURINAE; MUS MUSCULUS;

EID: 0032169330     PISSN: 00121606     EISSN: None     Source Type: Journal    
DOI: 10.1006/dbio.1998.8964     Document Type: Article

References (65)

1. Allen, R. E., Rankin, L. L., Greene, E. A., Boxhorn, L. K., Johnson, S. E., Taylor, R. G. and Pierce, P. R. (1991). Desmin is present in proliferating rat muscle satellite cells but not in bovine muscle satellite cells. J. Cell Physiol. 149, 525-535.
2. Alyonycheva, T., Cohen-Gould, L., Siewert, C., Fischman, D. A. and Mikawa, T. (1997). Skeletal muscle-specific myosin binding protein-H is expressed in Purkinje fibers of the cardiac conduction system. Circ. Res. 80, 665-672.
3. Antoniou, M., deBoer, E., and Grosveld, F. (1993). Fine mapping of genes: the characterization of the transcriptional unit. In "Human Genetic Disease Analysis. A Practical Approach" 2nd ed., (K. E. Davies, Ed.), pp. 83-108. IRL Press, Oxford, UK.
4. Auffray, C., and Rougeon, F. (1980). Purification of mouse immunoglobulin heavy-chain RNAs from total myeloma tumor RNA. Eur. J. Biochem. 107, 303-324.
5. Babai, F., Musevi-Aghdam, J., Schurch, W., Royal, A., and Gabbiani, G. (1990). Coexpression of α-sarcomeric actin, α-smooth muscle actin and desmin during myogenesis in rat and mouse embryos. I. Skeletal muscle. Differentiation 44, 132-142.
6. Bonifer, C., Yannoutsos, N., Kruger, G., Grosveld, F., and Sippel, A. E. (1994). Dissection of the locus control function of the chicken lysozyme gene domain in transgenic mice. Nucleic Acids Res. 22, 4202-4210.
7. Birnboim, H. C., and Dolly, J. (1979). A rapid alkaline extraction procedure for screening recombinant plasmid DNA. Nucleic Acids Res. 7, 1513.
8. Brennan, K. J., and Hardeman, E. C. (1993). Quantitative analysis of the human alpha-skeletal actin gene in transgenic mice. J. Biol. Chem. 268, 719-725.
9. Buckingham, M. (1992). Making muscle in mammals. Trends Genet. 8, 144-149.
10. Cammas, F. M., and Clark, A. J. L. (1996). S1 nuclease protection assay using streptavidin Dynabeads-purified single-stranded DNA. Anal. Biochem. 236, 182-184.
11. Capetanaki, Y., Ngai, J., Flytzanis, C. N., and Lazarides, E. (1984). Characterization and regulation in the expression of a gene coding for the intermediate filament protein desmin. Proc. Natl. Acad. Sci. USA 81, 6909-6912.
12. Carson, S., and Wiles, M. V. (1993). Far upstream regions of class II MHC Ea are necessary for position-independent, copy-dependent expression of Ea transgene. Nucleic Acids Res. 21, 2065-2072.
13. Chien, K. R., Zhu, H., Knowlton, K. U., Miller-Hance, W., van-Bilsen, M., O'Brien, T. X., and Evans, S. M. (1993). Transcriptional regulation during cardiac growth and development. Annu. Rev. Physiol. 55, 77-95.
14. Dillon, N., and Grosveld, F. (1994). Chromatin domains as potential units of eukaryotic gene function. Curr. Opin. Genet. Dev. 4, 260-264.
15. Diaz, P., Cado, D., and Winoto, A. (1994). A locus control region in the T cell receptor α/δ locus. Immunity 1, 207-217.
16. Dunwoodie, S. L., Joya, J. E., Arkell, R. M., and Hardeman, E. C. (1994). Multiple regions of the human cardiac actin gene are necessary for maturation-based expression in striated muscle. J. Biol. Chem. 269, 12212-12219.
17. Duprey, P., and Paulin, D. (1995). What can be learned from intermediate filament gene regulation in the mouse embryo. Int. J. Dev. Biol. 39, 443-457.
18. Ellis, J., Tan-Un, K. C., Harper, A., Michalovich, D., Yannoutsos, N., Philipsen, S., and Grosveld, F. (1996). A dominant chromatin-opening activity in 5′ hypersensitive site 3 of the human β-globin locus control region. EMBO J. 15, 562-568.
19. Ellis, J., Pasceri, P., Tan-Un, K. C., Wu, X., Harper, A., Fraser, P., and Grosveld, F. (1997). Evaluation of β-globin gene therapy constructs in single copy transgenic mice. Nucleic Acids Res. 25, 1296-1302.
20. Felsenfeld, G. (1992). Chromatin as an essential part of the transcriptional mechanism. Nature 355, 219-224.
21. Festenstein, R., Tolaini, M., Corbella, P., Mamalaki, C., Parrington, J., Fox, M., Miliou, A., Jones, M., and Kioussis, D. (1996). Locus control region function and heterochromatin-induced position effect variegation. Science 271, 1123-1125.
22. Fishman, M. C., and Chien, K. R. (1997). Fashioning the vertebrate heart: earliest embryonic decisions. Development 124, 2099-2117.
23. Fraser, P., Pruzina, S., Antoniou, M., and Grosveld, F. (1993). Each hypersensitive site of the human β- globin locus control region confers a different developmental pattern of expression on the globin genes. Genes Dev. 7, 106-113.
24. Frohman, M. A., Dush, M. K., and Martin, G. R. (1988). Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer. Proc. Natl. Acad. Sci. USA 85, 8998-9002.
25. Gao, J., Li, Z., and Paulin, D. (1998). A novel site, Mt, in the human desmin enhancer is necessary for maximal expression in skeletal muscle. J. Biol. Chem. 273, 6402-6409.
26. Greaves, D. R., Wilson, F. D., Lang, G., and Kioussis, D. (1989). Human CD2 3′-flanking sequences confer high-level, T cell specific, position-independent gene expression in transgenic mice. Cell 56, 979-986.
27. Grosveld, F., Blom van Assendelft, G. B., Greaves, D. R., and Kollias, G. (1987). Position-independent high level expression of the human β-globin gene in transgenic mice. Cell 51, 975-985.
28. Hashido, K., Arai, Y., Kajihara, S., Joh, K., Yatsuki, H., Hori, K., Miyazaki, J., Yamamura, K., and Mukai, T. (1995). Copy-dependent and position-independent expression of rat aldolase A gene. J. Biochem. 118, 601-606.
29. Hill, C. S., Duran, S., Lin, Z., Weber, K., and Holtzer, H. (1986). Titin and myosin, but not desmin, are linked during myofibrillogenesis in postmitotic mononucleated myoblasts. J. Cell. Biol. 103, 2185-2196.
30. Ioannou, P. A., Amemiya, C. T., Garnes, J., Kroisel, P. M., Shizuyu, H., Chen, C., Batzer, M. A., and de Jong, P. J. (1994). A new bacteriophage P1-derived vector for the propagation of large human DNA fragments. Nat. Genet. 6, 84-89.
31. Kaufman, S. J., and Foster, R. F. (1988). Replicating myoblasts express a muscle-specific phenotype. Proc. Natl. Acad. Sci. USA 85, 9606-9610.
32. Knotts, S., Rindt, H., and Robbins, J. (1995). Position independent expression and developmental regulation is directed by the β myosin heavy chain gene's 5′ upstream region in transgenic mice. Nucleic Acids Res. 23, 3301-3309.
33. Kuisk, I. R., Li H., Tran, D., and Capetanaki, Y. (1996). A single MEF-2 site governs desmin transcription in both heart and skeletal muscle during mouse embryogenesis. Dev. Biol. 174, 1-13.
34. Lescaudron, L., Li, Z., Paulin, D., and Fontaine-Perus, J. (1993). Desmin-lacZ transgene, a marker of regenerating skeletal muscle. Neuromusc. Disord. 3, 419-422.
35. Li, H., and Capetanaki, Y. (1993). Regulation of the mouse desmin gene: transactivation by MyoD, myogenin, MRF4 and Myf5. Nucleic Acids Res. 21, 335-343.
36. Li, H., and Capetanaki, Y. (1994). An Ebox in the desmin promoter co-operates with the E- box and MEF-2 sites of a distal enhancer to direct muscle-specific transcription. EMBO J. 13, 3580-3589.
37. Li, H., Choudhary, S.-C., Milner, D., Munir, M.-I., Kuisk, I., and Capetanaki, Y. G. (1994). Inhibition of desmin expression blocks myoblast fusion and interferes with the myogenic regulators myoD and myogenin. J. Cell. Biol. 124, 827-841.
38. Li, Z., Colucci-Guyon, E., Pincon-Raymond, M., Mericskay, M., Pournin, S., Paulin, D., and Babinet, C. (1996). Cardiovascular lesions and skeletal myopathy in mice lacking desmin. Dev. Biol. 175, 362-366.
39. Li, Z., Lilienbaum, A., Butler-Brown, G., and Paulin, D. (1989). Human desmin-coding gene: complete nucleotide sequence, characterisation and regulation of expression during myogenesis and development. Gene 78, 243-254.
40. Li, Z., Marchand, P., Humbert, J., Babinet, C., and Paulin, D. (1993). Desmin sequence elements regulating skeletal muscle-specific expression in transgenic mice. Development 111, 947-959.
41. Li, Z., Mattei, M. G., Mattei, J. F., and Paulin, D. (1990). Assignment of the mouse desmin gene to chromosome 1 band C3. Genet. Res. Camb. 55, 101-105.
42. Li, Z., and Paulin, D. (1991). High level desmin expression depends on a muscle-specific enhancer. J. Biol. Chem. 266, 6562-6570.
43. Li, Z., and Paulin, D. (1993). Different factors interact with myoblast-specific and myotube-specific enhancer regions of human desmin gene. J. Biol. Chem. 268, 10403-10415.
44. Lyons, G. E. (1994). In situ analysis of the cardiac muscle gene program during embryogenesis. Trends Cardiovasc. Med. 4, 70-77.
45. Mayo, M., Brinbas, M., Santos, V., Shum, L., and Slavkin, H. C. (1992). Desmin expression during early mouse tongue morphogenesis. J. Dev. Biol. 36, 255-263.
46. McHugh, K. M. (1995). Molecular analysis of smooth muscle development in the mouse. Dev. Dyn. 204, 278-290.
47. Milot, E., Strouboulis, J., Trimborn, T., Wijgerde, M., de Boer, E., Langeveld, A., Tan-Un, K., Vergeer, W., Yannoutsos, N., Grosveld, F., and Fraser, P. (1996). Heterochromatin effects on the frequency and duration of LCR-mediated gene transcription. Cell 87, 105-114.
48. Milner, D. J., Weitzer, G., Tran, D., Bradley, A., and Capetanaki, Y. (1996). Disruption of muscle architecture and myocardial degeneration in mice lacking desmin. J. Cell Biol. 134, 1255-1270.
49. Montoliu, L., Umland, T., and Schütz, G. (1996). A locus control region at -12 kb of the tyrosinase gene. EMBO J. 15, 6026-6034.
50. O'Brien, T. X., Lee, K. J., and Chien, K. R. (1993). Positional specification of the ventricular myosin light chain 2 expression in the primitive murine heart tube. Proc. Natl. Acad. Sci. USA 90, 5157-5161.
51. Ogilvy, S., Elefanty, A. G., Visvader, J., Bath, M. L., Harris, A. W., and Adams, J. M. (1998). Transcriptional regulation of vav, a gene expressed throughout the hematopoietic compartment. Blood 91, 419-430.
52. Olson, E. N., and Capetanaki, Y. G. (1989). Developmental regulation of intermediate filament and actin mRNAs during myogenesis is disrupted by oncogenic ras genes. Oncogene 4, 907-913.
53. Palmiter, R. D., and Brinster, R. L. (1986). Germ-line transformation of mice. Annu. Rev. Genet. 20, 465-499.
54. Pieper, F. R., Slobbe, R. L., Ramaekers, F. C. S., Cuypers, H. T., and Bloemendal, H. (1987). Upstream regions of the hamster desmin and vimentin genes regulate expression during in vitro myogenesis. EMBO J. 6, 3611-3618.
55. Quax, W., Meera Khan, P., Quax-Jeuken, Y., and Bloemendal, H. (1985). The human desmin and vimentin genes are located on different chromosomes. Gene 38, 181-196.
56. Rosen, B., and Beddington, R. S. P. (1993). Whole-mount in situ hybridization in the mouse embryo: gene expression in three dimensions. Trends Genet. 9, 162-167.
57. Salminen, M., Maire, P., Concordet, J.-P., Moch, C., Porteu, A., Kahn, A., and Daegelen, D. (1994). Fast-muscle-specific expression of human aldolase A transgenes. Mol. Cell. Biol. 14, 6797-6808.
58. Schaart, G., Viebahn, C., Langmann, W., and Ramaekers, F. (1989). Desmin and titin expression in early postimplantation mouse embryos. Development 107, 585-596.
59. Schedl, A., Larin, Z., Montoliu, L., Thies, E., Kelsey, G., Lehrach, H., and Schütz, G. (1993). A method for the generation of YAC transgenic mice by pronuclear injection. Nucleic Acids Res. 20, 4783-4787.
60. Stainier, D. Y. R., and Fishman, M. C. (1992). Patterning the zebrafish heart tube: Acquisition of the anteroposterior polarity. Dev. Biol. 153, 91-101.
61. Strouboulis, J., Dillon, N., and Grosveld, F. (1992). Developmental regulation of a complete 70-kb human β-globin locus in transgenic mice. Genes Dev. 6, 1857-1864.
62. Viegas-Pequignot, E., Li, Z. L., Dutrillaux, B., Apiou, F., and Paulin, D. (1989). Assignment of human desmin gene to band 2q35 by nonradioactive in situ hybridisation. Hum. Genet. 83, 33-36.
63. Weitzer, G., Milner, D. J., Kim, J. U., Bradley, A., and Capetanaki, Y. (1995). Cytoskeletal control of myogenesis: A desmin null mutation blocks the myogenic pathway during embryonic stem cell differentiation. Dev. Biol. 172, 422-439.
64. Wijgerde, M., Grosveld, F., and Fraser, P. (1995). Transcription complex stability and chromatin dynamics in vivo. Nature 377, 209-213.
65. Wilkinson, D. G. (1992). "In Situ Hybridisation: A Practical Approach," IRL Press, Oxford.