References
Akli, S., Chelly, J., Lacorte, J.M., Poenaru, L., Kahn, A. (1991). Seven Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments. Genomics 11, 124–134.
Barnea, E., Zuk, D., Simantov, R., Nudel, N., Yaffe, D. (1990). Specificity of expression of the muscle and brain dystrophin gene promoters in muscle and brain cells. Neuron 5, 881–888.
Black, D.L. (1992). Neuron-specific splicing by an unsual RNA element in vivo and in vitro. Cell 69, 795–807.
Blake, D.J., Love, D.R., Tinsley, J., Morris, G.E., Turley, H., Gatter, K., Dickson, G., Edwards, Y.H., Davies, K.E. (1992). Characterization of a 4.8 kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells. Hum. Mol. Genet. 1, 103–109.
Boyce, F., Beggs, A., Feener, C., Kunkel, L.M. (1991). Dystrophin is transcribed in brain from a distant upstream promoter. Proc. Natl. Acad. Sci. USA 88, 1276–1280.
Chelly, J., Hamard, G., Koulakoff, A., Kaplan, J.C., Kahn, A., Berwald-Netter, Y. (1990). Dystrophin gene transcribed from different promoters in neuronal and glial cells. Nature 344, 64–65.
Den Dunnen, J., Casula, L., Markover, A., Bakker, B., Yaffe, D., Nudel, U., Van Ommen, G. (1991). Mapping of dystrophin brain promoter: a deletion of this region is compatible with normal intellect. Neuromuscular Disorders 1, 327–332.
Feener, C.A., Koenig, M., Kunkel, L.M. (1989). Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus. Nature 338, 509–511.
Gilgenkrantz, H., Hugnot, J.P., Lambert, M., Chafey, P., Kaplan, J.C., Kahn, A. (1992). Positive and negative regulatory elements including a CCArGG box are involved in the cell-type specific expression of the human dystrophin gene. J. Biol. Chem. 267, 10823–10830.
Gorecki, L., Monaco, A.P., Derry, J.M.J., Walker, A.P., Barnard, E.A., Barnard, P.J. (1992). Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters. Hum. Mol. Genet. 1, 505–510.
Hansen, R.S., Ellis, N.A., Gartler, S.M. (1988). Demethylation of specific sites in the 5′ region of the inactive X-linked human phosphoglycerate kinase gene correlates with the appearance of nuclease sensitivity and gene expression. Mol. Cell. Biol. 8, 4692–4699.
Heilig, R., Lemaire, C., Mandel, J.L. (1987). A 230 kb cosmid walk in the Duchenne muscular dystrophy gene: detection of a conserved sequence and of a possible deletion prone region. Nucleic Acids Res. 15, 9129–9142.
Hugnot, J.P., Gilgenkrantz, H., Vincent, N., Chafey, P., Morris, G.E., Monaco, A.P., Berwald-Netter, Y., Koulakoff, A., Kaplan, J.C., Kahn, A. (1992). Distal transcript of the dystrophin gene initiated from an alternative first exon and encoding a 75-kDa protein widely distributed in nonmuscle tissues. Proc. Natl. Acad. Sci. USA 89, 7506–7510.
Jeanpierre, M. (1987). A simple method for DNA extraction. Nucleic Acids Res. 22, 967.
Kozak, M. (1987). An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs. Nucleic Acids Res. 15, 8125–8148.
Lederfein, D., Levy, Z., Augier, N., Mornet, D., Morris, G.E., Fuchs, O., Yaffe, D., Nudel, N. (1992). A 71 kDa protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues. Proc. Natl. Acad. Sci. USA 89, 5346–5350.
Lemaire, C., Heilig, R., Mandel, J.L. (1988). The chicken dystrophin cDNA: striking conservation of the C-terminal coding and 3′ untranslated regions between man and chicken. EMBO J. 7, 4157–4162.
Markover, A., Zuk, D., Breakstone, J., Yaffe, D., Nudel, U. (1991). Brain-type and muscle-type promoters of the dystrophin gene differ greatly in structure. Neuromuscular Disorders 1, 39–45.
Monaco, A.P., Kunkel, L.M. (1988). Cloning of the Duchenne/Becker muscular dystrophy locus. Adv. Hum. Genet. 17, 61–98.
Mowry, K.L., Melton, D.A. (1992). Vegetal messenger RNA localization directed by a 340-nt RNA sequence element in Xenopus oocytes. Science 255, 991–994.
Nudel, U., Zuk, D., Zeelon, E., Levy, Z., Neuman, S., Yaffe, D. (1989). Duchenne muscular dystrophy gene product is not identical in muscle and brain. Nature 337, 76–78.
Parker, J.D., Rabinovitch, P.S., Burmer, G.C. (1991). Targeted gene walking polymerase chain reaction. Nucleic Acids Res. 19, 3055–3060.
Prats, A.C., Vagner, S., Prats, H., Amalric, F. (1992). Cis-acting elements involved in the alternative translation initiation process of human basic fibroblast growth factor mRNA. Mol. Cell. Biol. 12, 4796–4805.
Rahmsdorf, H.J., Schönthal, A., Angel, P., Liftin, M., Rüther, U., Herrlich, P. (1987). Posttranscriptional regulation of c-fos mRNA expression. Nucleic Acids Res. 15, 1643–1659.
Rapaport, D., Passos-Bueno, M., Takata, R.I., Campiotto, S., Eggers, S., Vainzof, M., Markover, A., Nudel, U., Yaffe, D., Zatz, M. (1992). A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation. Neuromuscular Disorders 2, 117–120.
Sauerwald, A., Hoesche, C., Oschwald, R., Kilimann, M.W. (1990). The 5′-flanking region of the Synapsin I gene. J. Biol. Chem. 265, 14932–14937.
Schowalter, D.B., Sommer, S.S. (1989). The generation of radiolabeled DNA and RNA probes with polymerase chain reaction. Anal. Biochem. 177, 90–94.
Vibert, M., Henry, J., Kahn, A., Skala, H. (1989). The brain-specific gene for rat aldolase C possesses an unusual housekeeping-type promoter. Eur. J. Biochem. 181, 33–39.
Worton, R.C. (1988). Genetics of Duchenne muscular dystrophy. Annu. Rev. Genet. 22, 601–620.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Hugnot, JP., Gilgenkrantz, H., Jeanpierre, M. et al. Striking conservation of the brain-specific region of the dystrophin gene. Mammalian Genome 4, 393–396 (1993). https://doi.org/10.1007/BF00360592
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00360592