Skip to main content
SpringerLink
Log in

Comparative mapping on the mouse X Chromosome defines a myotubular myopathy equivalent region

  • Original Contribution
  • Published:
Mammalian Genome Aims and scope Submit manuscript

Abstract

The gene for X-linked myotubular myopathy (MTM1) has been localized to a 300-kb critical region in human Xq28 between IDS and GABRA3. As part of an effort to clone this gene, we developed a YAC contig on the mouse X Chromosome (Chr) which includes loci homologous to those within the human MTM1 critical region. The murine contig consists of 18 YACs and spans 2.5–3.0 Mb. We have aligned the human and murine physical maps by isolating conserved mouse genomic fragments, including CpG islands and trapped exons. We believe that the simultaneous isolation of genes from both mouse and human and continued comparative mapping will prove helpful in the eventual identification of MTM1 and other genes in the region.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Amar, L., Dandolo, L., Hanauer, A., Cook, A.R., Arnaud, D., Mandel, J.L., Avner, P. (1988). Conservation and reorganization of loci on the mammalian X chromosome: a molecular framework for the identification of homologous subchromosomal regions in man and mouse. Genomics 2, 220–230.

    Article  PubMed  CAS  Google Scholar 

  • Andersson, B., Lu, F., Muzny, D., Warren, S., Gibbs, R. (1995). Complete sequence of a 38.4-kb human cosmid insert containing the polymorphic marker DXS455 from Xq28. DNA Seq. 5, 219–223.

    Article  PubMed  CAS  Google Scholar 

  • Bell, M., Bloomfield, J., McKinley, M., Patterson, M., Barnard, E., Davies, K. (1989). Physical linkage of a GABAA receptor subunit gene to the DXS374 locus in human Xq28. Am. J. Hum. Gent. 45, 883–888.

    CAS  Google Scholar 

  • Bellané-Chantelot, C., Lacroix, B., Ougen, P., Billault, A., Beaufils, S., Bertrand, S., Georges, I., Gilbert, F., Gros, I., Lucotte, G., Susini, L., Codani, J.J., Gesnouin, P., Pook, S., Vaysseix, G., Lu-Kuo, J., Ried, T., Ward, D., Chumakov, I., Le Paslier, D., Barillot, E., and Cohen, D. (1992). Mapping the whole human genome by fingerprinting yeast artificial chromosomes. Cell 70, 1059–1068.

    Article  Google Scholar 

  • Chartier, F.L., Keer, J.T., Sutcliffe, M.J., Henriques, D.A., Mileham, P., Brown, S.D.M. (1992). Construction of a mouse yeast artificial chromosome library in a recombination-deficient strain of yeast. Nature Genet. 1, 132–136.

    Article  PubMed  CAS  Google Scholar 

  • Chatterjee, A., Faust, C.J., Herman, G.E. (1993). Genetic and physical mapping of the biglycan gene on the mouse X chromosome. Mamm. Genome 4, 33–36.

    Article  PubMed  CAS  Google Scholar 

  • Chatterjee, A., Faust, C.J., Molinari-Storey, L., Kioschis, P., Poustka, A., Herman, G.E. (1994). A 2.3 Mb yeast artificial chromosome contig spanning from Gabra3 to G6pd on the mouse X chromosome. Genomics 21, 49–57.

    Article  PubMed  CAS  Google Scholar 

  • Coy, J.F., Kioschis, P., Sedlacek, Z., Poustka, A. (1994). Identification of tissue-specific expressed sequences in human band Xq28 with complex pig cDNA probes. Mamm. Genome 5, 131–137.

    Article  PubMed  CAS  Google Scholar 

  • Dahl, N., Samson, F., Thomas, N.S.T., Hu, L.J., Gong, W., Herman, G.E., Laporte, J., Kioschis, P., Poustka, A., Mandel, J.L. (1994). X-linked myotubular myopathy (MTM1) mapped between DXS304-DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684). J. Med. Genet. 31, 922–924.

    Article  PubMed  CAS  Google Scholar 

  • Dahl, N., Hu, L.J., Chery, M., Fardeau, M., Gilgenkrantz, S., Nivelon-Chevallier, A., Sidaner-Noisette, I., Mugneret, F., Gouyon, J.B., Gal, A., Kioschis, P., d’Urso, M., Mandel, J.L. (1995). Myotubular myopathy in a girl with a deletion at Xq27–q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region. Am. J. Hum. Genet. 56, 1108–1115.

    PubMed  CAS  Google Scholar 

  • Daniele, A., Faust, C, Herman, G.E., Di Natale, P., Ballabio, A. (1993). Cloning and characterization of the cDNA for the murine iduronate sulfatase gene. Genomics 16, 755–757.

    Article  PubMed  CAS  Google Scholar 

  • DeAngelis, M.S., Palmucci, L., Leone, M., Doriguzzi, C. (1991). Centro-nuclear myopathy: clinical, morphological and genetic characters. A review of 288 cases. J. Neurol. Sci. 103, 2–9.

    Article  CAS  Google Scholar 

  • de Gouyon, B., Chatterjee, A., Herman, G.E. (1994). Fine genetic and physical mapping of thirteen mouse X chromosome microsatellites. Mouse Genome 92, 516–519.

    Google Scholar 

  • Dietrich, W., Katz, H., Lincoln, S.E., Shin, H.S., Friedman, J., Dracopoli, N., Lander, E.S. (1992). A genetic map of the mouse suitable for typing intraspecific crosses. Genetics 131, 421–445.

    Google Scholar 

  • Faust, C.J., Herman, G.E. (1991). Physical mapping of the loci Gabra3, DXPas8, CamL1, and Rsvp in a region of the mouse X chromosome homologous to human Xq28. Genomics 11, 154–164.

    Article  PubMed  CAS  Google Scholar 

  • Faust, C.J., Verkerk, A.J.M.H., Wilson, P.J., Hopwood, J.J., Oostra, B.A., Herman, G.E. (1992a). Genetic mapping on the mouse X chromosome homologous to human Xq28 and identification of an exception to conserved linkage. Genomics 12, 814–817.

    Article  PubMed  CAS  Google Scholar 

  • Faust, C.J., Levinson, B., Gitschier, J., Herman, G.E. (1992b). Extension of the physical map in the region of the mouse X chromosome homologous to human Xq28 and identification of an exception to conserved linkage. Genomics 13, 1289–1295.

    Article  PubMed  CAS  Google Scholar 

  • Feinberg, A.P., Vogelstein, B. (1984). A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity: addendum. Anal. Biochem. 137, 266–277.

    Article  PubMed  CAS  Google Scholar 

  • Gonsalez, G., Stayton, C., Freimer, N., Goonewardena, P., Brown, W., Gilliam, T., Warren, S. (1992). Isolation and characterization of a highly polymorphic human locus (DXS455) in proximal Xq28. Genomics 12, 710–714.

    Article  Google Scholar 

  • Guo, W., Worley, K., Adams, V., Mason, J., Sylvester-Jackson, D., Zhang, Y.H., Towbin, J.A., Fogt, D.D., Madu, S., Wheeler, D.A., McCabe, E.R.B. (1993). Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene. Nature Gent. 4, 367–371.

    Article  CAS  Google Scholar 

  • Hamerton, J., Wany, H., Riddell, D., Beckett, J., Holden, J., Mulligan, L., Phillips, A., Simpson, N., White, B., Wrogemann, K. (1984). Assignment and regional localization of series of X chromosome specific DNA probes. Cytogenet. Cell Genet. 37, 486–487.

    Article  Google Scholar 

  • Heckmatt, J.Z., Sewry, C.A., Hodes, D., Dubowitz, V. (1985). Congenital centronuclear (myotubular) myopathy: a clinical, pathological and genetic study in eight children. Brain 108, 941–964.

    Article  PubMed  Google Scholar 

  • Herman, G.E., Faust, C.J., Darlison, M.G., Barnard, E.A. (1991a). Genetic mapping of the mouse X chromosome in the region homologous to human Xq27–Xq28. Genomics 9, 670–677.

    Article  PubMed  CAS  Google Scholar 

  • Herman, G.E., Berry, M., Munro, E., Craig, I.W., Levy, E.R. (1991b). The construction of human somatic cell hybrids containing portions of the mouse X chromosome and their use to generate DNA probes via interspersed repetitive sequence polymerase chain reaction. Genomics 10, 961–970.

    Article  PubMed  CAS  Google Scholar 

  • Herman, G.E., Boyd, Y., Chapman, V., Chatterjee, A., Brown, S.D.M. (1994). The mouse X chromosome. Mamm. Genome 5 (Suppl.), S276-S288.

    PubMed  CAS  Google Scholar 

  • Hu, L.J., Laporte, J., Kress, W., Kioschis, P., Poustka, A., Fardeau, M., Metzenberg, A., Janssen, E.A., Thomas, N., Mandel, J.L., Dahl, N. (1995). Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development restrict the MTM1 candidate region to 430kb. Hum. Mol. Genet. 5, 139–144.

    Article  Google Scholar 

  • Joseph, M., Pai, S., Holden, K.R., Herman, G.E. (1995). X-linked myotubular myopathy: Clinical observations in ten additional patients. Am. J. Med. Genet. 59, 168–173.

    Article  PubMed  CAS  Google Scholar 

  • Kusumi, K., Smith, J.S., Segre, J.A., Koos, D.S., Lander, E.S. (1993). Construction of a large-insert yeast artificial chromosome library of the mouse genome. Mamm. Genome 4, 391–392.

    Article  PubMed  CAS  Google Scholar 

  • Larin, Z., Monaco, A.P., Lehrach, H. (1991). Yeast artificial chromosome libraries containing large inserts from mouse and human DNA. Proc. Natl. Acad. Sci. USA 88, 4123–4127.

    Article  PubMed  CAS  Google Scholar 

  • Lehesjoki, A.E., Sankila, E.M., Miao, J., Somer, M., Salonen, R., Rapola, J., de la Chapelle, A. (1990). X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28. J. Med. Genet. 27, 288–291.

    Article  PubMed  CAS  Google Scholar 

  • Lyon, M.F., Searle, A.G. (1989). Genetic Variants and Strains of the Laboratory Mouse (Oxford: Oxford University Press).

    Google Scholar 

  • Nelson, D.L., Ledbetter, S.A., Corbo, L., Victoria, M.F., Ramirez-Solis, R., Webster, T.D., Ledbetter, D.H., Caskey, C.T. (1989). Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources. Proc. Natl. Acad. Sci. USA 86, 6686–6690.

    Article  PubMed  CAS  Google Scholar 

  • Nelson, D.L., Ballabio, A., Cremers, F., Monaco, A.P., Schlessinger, D. (1995). Report of the sixth international workshop on X chromosome mapping 1995. Cytogenet. Cell Genet., in press.

  • Palmieri, G., Romano, G., Ciccodicola, A., Casamassimi, A., Campanile, C, Esposito, T., Cappa, V., Lania, A., Johnson, S., Reinbold, R., Poustka, A., Schlessinger, D., Urso, M. (1994). YAC contig organization and CpG island analysis in Xq28. Genomics 24, 149–158.

    Article  PubMed  CAS  Google Scholar 

  • Parrish, J., Oostra, B., Verkerk, A., Richards, C.S., Reynolds, J., Spikes, A., Shaffer, L., Nelson, D. (1994). Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Nature Genet. 8, 229–235.

    Article  PubMed  CAS  Google Scholar 

  • Patterson, M., Bell, M., Bloomfield, J., Flint, T., Dorkins, H., Thibodeau, S., Schaid, D., Bren, G., Schwartz, C, Wieringa, B., Ropers, H., Callen, D., Sutherland, G., Froster-Iskenius, U., Vissing, H., Davies, K. (1989). Genetic and physical mapping of a novel region close to the fragile X site on the human X chromosome. Genomics 4, 570–578.

    Article  PubMed  CAS  Google Scholar 

  • Rogner, U., Kioschis, P., Wilke, K., Gong, W., Pick, E., Dietrich, A., Zechner, U., Hameister, H., Pragliola, A., Herman, G.E., Yates, J., Lehrach, H., Poustka, A. (1994). A YAC clone map spanning 7.5 megabases of human chromosome band Xq28. Hum. Mol. Genet. 3, 2137–2146.

    Article  PubMed  CAS  Google Scholar 

  • Rossi, J., Burke, D., Leung, J., Koos, D., Chen, H., Tilghman, S. (1992). Genomic analysis using a yeast artificial chromosome library with mouse DNA inserts. Proc. Natl. Acad. Sci. USA 89, 2456–2460.

    Article  PubMed  CAS  Google Scholar 

  • Samson, F., Mesnard, L., Heimburger, M., Hanauer, A., Chevallay, M., Mercadier, J.J., Pelissier, J.F., Feingold, N., Junien, C., Mandel, J.L., Fardeau, M. (1995). Genetic linkage heterogeneity in myotubular myopathy. Am. J. Hum. Genet. 57, 120–126.

    PubMed  CAS  Google Scholar 

  • Starr, J., Lamont, M., Iselius, L, Harvey, J., Heckmatt, J. (1990). A linkage study of a large pedigree with X linked centronuclear myopathy. J. Med. Genet. 27, 281–283.

    Article  PubMed  CAS  Google Scholar 

  • Thomas, N.S.T., Williams, H., Cole, G., Roberts, K., Clarke, A., Liechti-Gallati, S., Braga, S., Gerber, A., Meier, C, Moser, H., Harper, P.S. (1990). X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci. J. Med. Genet. 27, 284–287.

    Article  PubMed  CAS  Google Scholar 

  • Timms, K., Lu, F., Shen, Y., Pierson, C, Muzny, D., Gu, Y., Nelson, D., Gibbs, R. (1995). 130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus. Genome Res. 5, 71–78.

    Article  PubMed  CAS  Google Scholar 

  • Wallgren-Pettersson, C., Clarke, A., Samson, F., Fardeau, M., Dubowitz, V., Moser, H., Grimm, T., Barohn, R.J., Barth, P. (1995) The myotubular myopathies: differential diagnosis of the X-linked recessive, au-tosomal dominant and autosomal recessive forms and present state of the DNA studies. J. Med. Genet. 32, 673–679.

    Article  PubMed  CAS  Google Scholar 

  • Warren, S.T., Knight, S.J.L., Peters, J.F., Stayton, C.L., Consalez, G.G., Zhang, F. (1990). Isolation of the human chromosomal band Xq28 within somatic cell hybrids by fragile X site breakage. Proc. Natl. Acad. Sci. USA 87, 3856–3860.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza 821T, 77030, Houston, TX, USA

    B. de Gouyon, A. Chatterjee & G. E. Herman

  2. Department of Pediatrics, Baylor College of Medicine, 77030, Houston, TX, USA

    G. E. Herman

  3. Wellcome Trust Centre for Human Genetics, University of Oxford, 0X3 7BN, Oxford, UK

    A. Monaco

  4. Department of Biochemistry and Molecular Genetics, St. Mary’ s Hospital, W2 1PG, London, UK

    N. Quaderi & S. D. M. Brown

Authors
  1. B. de Gouyon
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. A. Chatterjee
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. A. Monaco
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. N. Quaderi
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. S. D. M. Brown
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. G. E. Herman
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

de Gouyon, B., Chatterjee, A., Monaco, A. et al. Comparative mapping on the mouse X Chromosome defines a myotubular myopathy equivalent region. Mammalian Genome 7, 575–579 (1996). https://doi.org/10.1007/s003359900172

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s003359900172

Keywords

Search

Navigation