Abstract
Using both chromosomal in situ hybridization and molecular techniques, we report the genetic localization of the gene coding for the alpha 1 subunit of the skeletal slow Ca2+ current channel/DHP receptor gene (Cchl1a3) on human Chromosome (Chr) 1 (1q31–1q32 region) and on mouse Chr 1 region (F-G). On the basis of single-strand conformation polymorphism (SSCP-PCR) analysis in an interspecific backcross, we have determined that the Cchl1a3=mdg (muscular dysgenesis) locus is very closely linked to the myogenin (Myog) locus.
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Beam, K.G., Knusdon, C.M., Powell, J.A. (1986). A lethal mutation in mice eliminates the slow calcium current in skeletal muscle cells. Nature 320, 168–170.
Bonhomme, F., Guénet, J.-L. (1989). The wild house mouse and its relatives. In Genetic Variants and Strains of the Laboratory Mouse, 2nd ed., M.F. Lyon, A.G. Searle, eds. (New York: Oxford Univ. Press), pp. 649–662.
Borsotto, M., Barhanin, J., Fosset, M., Lazdunski, M. (1985). The 1–4 dihydropyridine receptor associated with the skeletal muscle voltage dependent calcium channel: purification and subunit composition. J. Biol. Chem. 260, 14255–14263.
Bowden-Essien, F. (1972). An in vitro study of normal and mutant myogenesis in the mouse. Dev. Biol. 27, 351–364.
Catteral, W.A. (1991). Functional subunit structure of voltage-gated calcium channels. Science 253, 1499–1500.
Catterall, W.A., Seager, M.J., Takahashi, M. (1988). Molecular properties of dihydropyridine-sensitive calcium channels in skeletal muscle. J. Biol. Chem. 263, 3535–3538.
Chaudhari, N. (1992). A single nucleotide deletion in the skeletal muscle-specific calcium channel transcript of muscular dysgenesis (mdg) mice. J. Biol. Chem. 267, 25636–25639.
Chin, H., Krall, M., Kim, H.L., Kozak, C.A., Mock, B. (1992). The gene for the α1 subunit of the skeletal muscle dihydropyridine-sensitive calcium channel (Cchl1a3) maps to mouse chromosome 1. Genomics 14, 1089–1091.
Ellis, S. B., Williams, M.E., Ways, N.R., Brenner, R., Sharp, A.H., Leung, A.T., Campbell, K.P., McKenna, E., Koch, W.J., Hui, A., Schwartz, A., Harpold, M.M. (1988). Sequence and expression of mRNAs encoding the α1 and α2 subunits of a DHP sensitive calcium channel. Science 241, 19661–19664.
Gluecksohn-Waelsch, S. (1963). Lethal genes analysis of differentiation. Science 142, 1269–1273.
Hata, A., Robertson, M., Emi, M., Lalouel, J.M. (1990). Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene. Nucleic Acids Res. 18, 5407–5411.
Hearne, C., McAleer, M., Love, J., Aitman, T., Cornall, R., Ghosh, S., Knight, A., Prins, J.B., Todd, J. (1991). Additional microsatellites markers for mouse genome mapping. Mammalian Genome 1, 273–282.
Knudson, C.M., Chaudhari, N., Sharp, A.H., Powell, J.A., Beam, K.G., Campbell, K.P. (1989). Specific absence of the α1 subunit of the dihydropyridine receptor in mice with muscular dysgenesis. J. Biol. Chem. 264, 1345–1348.
Koide, T., Ishiura, M., Hazumi, N., Shiroishi, T., Okada, Y., Uchida, T. (1990). Amplification of a long sequence that includes a processed pseudogene for elongation factor 2 in the mouse. Genomics 6, 80–88.
Love, J., Knight, A., McAleer, M., Todd, J. (1990). Towards construction of a high resolution map of the mouse genome using PCR analysed microsatellites. Nucleic Acids Res. 18, 4123–4130.
Mattei, M.G., Philip, N., Passage, E., Moissan, J.P., Mandel, J.L., Mattei, J.F. (1985). DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosome. Hum. Genet. 69, 268–271.
Montagutelli, X., Serikawa, T., Guénet, J.-L. (1991). PCR-analysed microsatellites: data concerning laboratory and wild-derived mouse inbred stains. Mammalian Genome 1, 255–259.
Murray, J.C., Nishimusa, D.Y., Buetow, K.H., Ardinger, N.H., Spence, M.A., Sparkes, R.S., Falk, R.E., Falk, P.M., Gardner, J.M., Harkness, E.M., Glinski, L.P., Pauli, R.M., Nakamura, Y., Green, P.P., Schinzel, A. (1990). Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome 1q. Am. J. Hum. Genet. 46, 486–491.
Olson, E., Edmondson, D., Wright, W.E., Li, V.K., Guénet, J.-L., Simon-Chazottes, D., Thompson, L.H., Stallings, R.L., Schroeder, W.T., Duvic, M., Brock, D., Helin, D., Siciliano, M.J. (1990). Myogenin is in an evolutionarily conserved linkage group on human chromosome 1q31–q41 and unlinked to other mapped muscle regulatory factory genes. Genomics 8, 427–434.
Orita, M., Iwahana, H., Kanazawa, H., Hayashi, K., Sekiva, T. (1989a). Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. Natl. Acad. Sci. USA 86, 2766–2770.
Orita, M., Suzuki, Y., Sekiva, T., Hayashi, K. (1989b). Rapid and sensitive detection of point mutation and DNA polymorphisms using the polymerase chain reaction. Genomics 5, 874–879.
Paï, A.C. (1965). Developmental genetics of a lethal mutation muscular dysgenesis (mdg) in the mouse. I. Genetic analysis and gross morphology. Dev. Biol. 11, 82–92.
Pinçon-Raymond, M., Rieger, F., Fosset, M., Lazdunski, M. (1985). Abnormal transverse tubule and abnormal amount of the receptors for Ca2+ channel inhibitors of the dihydropyridine family in the skeletal muscle from mice with embryonic muscular dysgenesis. Dev. Biol. 112, 458–466.
Purmann, L., Plass, C., Gruneberg, M., Winking, H., Traut, W. (1992). A long-range repeat cluster in chromosome 1 of the house mouse, Mus musculus, and its relation to a germline homogeneously staining region. Genomics 12, 80–88.
Rieger, F., Bournaud, R., Shimara, T., Garcia, L., Pinçon-Raymond, M., Romey, G., Lazdunski, M. (1987). Restoration of dysgenic muscle contraction and calcium channel function by coculture with normal spinal cord neurons. Nature 330, 563–566.
Rios, E., Pizarro, G. (1988). Voltage sensors and calcium channels of excitation-contraction coupling. News Physiol. Sci. 3, 223–227.
Sambrook, J., Fritsch, E.F., Maniatis, T. (1989). Molecular Cloning: A Laboratory Manual, 2nd ed. Cold Spring Harbor, N.Y.: Cold Spring Harbor Laboratory Press.
Seldin, M.F. (1992). Mouse Chromosome 1. Mammalian Genome 3, Suppl., S1-S19.
Tanabe, T., Takeshima, H., Mikami, A., Flockerzi, V., Takahashi, H., Kangawa, K., Kojima, M., Matsuo, H., Hirose, T., Numa, S. (1987). Primary structure of the receptor for calcium channel blockers from skeletal muscle. Nature 28, 313–318.
Tanabe, T., Beam, K., Powell, J., Numa, S. (1988). Restoration of the excitation-contraction coupling and slow calcium curuent in dysgenic muscle by dihydropyridine receptor complementary DNA. Nature 336, 313–318.
Van der Woude, X. (1954). Fistula labii inferioris congenita and its association with cleft lip and palate. Am. J. Hum. Genet. 6, 244.
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Drouet, B., Garcia, L., Simon-Chazottes, D. et al. The gene coding for the α1 subunit of the skeletal dihydropyridine receptor (Cchl1a3=mdg) maps to mouse Chromosome 1 and human 1q32. Mammalian Genome 4, 499–503 (1993). https://doi.org/10.1007/BF00364784
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DOI: https://doi.org/10.1007/BF00364784