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Rare McArdle disease locus polymorphic site on 11q13 contains CpG sequence

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Summary

When probes throughout the McArdle disease (myophosphorylase) gene region were used to search for DNA polymorphisms, only an MspI polymorphism was found in 94 enzyme-probe combinations. Along with an insertion/deletion polymorphism more 3′ to the gene locus, these polymorphisms will be informative in 75% of at-risk patients. These results contrast strikingly to the six polymorphic sites detected in 15 enzyme-probe combinations in the homologous Her's disease (liver phosphorylase) gene region. This single MspI polymorphic site includes a CpG sequence of known increased mutability suggesting that DNA regions with rare polymorphisms will have most polymorphic sites at sequences with enhanced mutability. Fluorescence in situ hybridization sublocalized this gene to proximal band 11q13, establishing a point of cross-reference between the physical and genetic maps.

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References

  • Barker D, Schafer S, White R (1984) Restriction sites containing CpG show a higher frequency of polymorphism in human DNA. Cell 36:131–138

    Google Scholar 

  • Bird AP (1980) DNA methylation and the frequency of CpG in animal DNA. Nucleic Acids Res 8:1499–1504

    Google Scholar 

  • Bird AP (1986) CpG-rich islands and the function of DNA methylation. Nature 321:209–213

    Google Scholar 

  • Bishop DT, Williamson JA, Skolnick MH (1983) A model for restriction fragment length distributions. Am J Hum Genet 35:795–815

    Google Scholar 

  • Burke J, Hwang P, Anderson L, Lebo R, Gorin F, Fletterick RJ (1987) Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase. Proteins: structure, function, and genetics. Proteins 2:177–187

    Google Scholar 

  • Carlson M, Nakamura Y, Gillilan S, O'Connell PO, Lebo R, Gorin F, Lathrop CM, Lalouel J-M, White R (1988) Isolation and mapping of a polymorphic DNA sequence for human muscle glycosen phosphorylase (pMCMP1) on chromosome II. Nucleic Acids Res 16:10403

    Google Scholar 

  • Chakravarti A, Buetow KH (1985) A strategy for using multiple linked markers for genetic counseling. Am J Hum Genet 37:984–997

    Google Scholar 

  • Chandler ME, Kedes LH, Cohn RH, Yunis JJ (1979) Genes coding for histone proteins in man are located on the distal end of the long arm of chromosome 7. Science 205:908–910

    Google Scholar 

  • Choo KH, Filby G, Greco S, Lau Y-F, Kan YW (1986) Cosmid vestors for high efficiency DNA-mediated transformation and gene amplification in mammalian cells: studies with human growth hormone gene. Gene 46:277–286

    Google Scholar 

  • Coulondre C, Miller JH, Farabaugh PJ, Gilbert W (1978) Molecular basis of base substitution hotspots in Escherichia coli. Nature 274:775–780

    Google Scholar 

  • David ES, Crerar MM (1986) Quantitation of muscle glycogen phosphorylase mRNA and enzyme amounts in adult rat tissues. Biochim Biophys Acta 880:78–90

    Google Scholar 

  • DiMauro S, Hartlage PL (1978) Fatal infantile form of muscle phosphorylase deficiency. Neurology 28:1124–1129

    Google Scholar 

  • Gautron S, Daegelen D, Mennecier F, Dubocq D, Kahn A, Dreyfus J-C (1987) Molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). J Clin Invest 79:275–281

    Google Scholar 

  • Goossens M, Kan YW (1981) DNA analysis in the diagnosis of hemoglobin disorders. Methods Enzymol 76:805–817

    Google Scholar 

  • Grunfeld J-P, Ganeval D, Chanard J, Fardeau M, Dreyfus J-C (1972) Acute renal failure in McArdle's disease: report of two cases. N Engl J Med 286:1237–1241

    Google Scholar 

  • Kan YW, Dozy AM (1978) Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci USA 75:5631–5635

    Google Scholar 

  • Landegent JE, Jansen in de Wal N, Dirks RW, Baas F, Ploeg M van der (1987) Use of whole cosmid cloned genomic sequences for chromosomal localization by non-radioactive in situ hybridization. Hum Genet 77:366–370

    Google Scholar 

  • Layzer RB, Rowland LP, Ranney HM (1967) Muscle phosphofructokinase deficiency. Arch Neurol 17:512–523

    Google Scholar 

  • Lebo RV, Gorin F, Fletterick RJ, Kao F-T, Cheung MC, Bruce BD, Kan YW (1984) High-resolution chromosome sorting and DNA spot-blot analysis localize McArdle's syndrome to chromosome 11, Science 225:57–59

    Google Scholar 

  • Lebo RV, Tolan DR, Bruce BD, Cheung MC, Kan YW (1985) Spot blot analysis of sorted chromosomes assigns a fructose intolerance disease locus to chromosome 9. Cytometry 6:478–483

    Google Scholar 

  • Litt M, White RL (1985) A highly polymorphic locus in human DNA revealed by cosmid-derived probes. Proc Natl Acad Sci USA 82:6206–6210

    Google Scholar 

  • Martinuzzi A, Askansas V, Kobayashi T, Engel WK, DiMauro S (1986) Expression of muscle-gene-specific isozymes of phosphorylase and creatine kinase in innervated cultured human muscle. J Cell Biol 103:1423–1429

    Google Scholar 

  • McArdle B (1951) Myopathy due to a defect in muscle glycogen breakdown. Clin Sci 10:13–35

    Google Scholar 

  • Mommaerts WFHM, Illingworth B, Pearson CM, Guillory RJ, Seraydarian K (1959) A functional disorder of muscle associated with the absence of phosphorylase. Proc Natl Acad Sci USA 45:791–797

    Google Scholar 

  • Newgard CB, Nakano K, Hwang PK, Fletterick RJ (1986) Sequence analysis of the cDNA encoding human liver glycogen phosphorylase reveals tissue-specific codon usage. Proc Natl Acad Sci USA 83:8132–8136

    Google Scholar 

  • Newgard CB, Fletterick RJ, Anderson LA, Lebo RV (1987) The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14. Am J Hum Genet 40:351–364

    Google Scholar 

  • Newgard CB, Littman DR, Genderen C van, Fletterick RJ (1988) Human brain glycogen phosphorylase: cloning, sequence analysis, chromosomal mapping, tissue expression, and comparison with the human liver and muscle isozymes. J Biol Chem 263:3850–3857

    Google Scholar 

  • Pinkel D, Landegent J, Collins C, Fuscoe J, Segraves R, Lucas J, Gray J (1988) Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4. Proc Natl Acad Sci USA 85:9138–9142

    CAS  PubMed  Google Scholar 

  • Schane HP (1965) Molecular weight estimation of rat uterine phosphorylase. Anal Biochem 11:371–394

    Google Scholar 

  • Schmid R, Mahler R (1959) Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the uscle. J Clin Invest 38:2044–2058

    Google Scholar 

  • Schmid R, Robbins PW, Traut RR (1959) Glycogen synthesis in muscle lacking phosphorylase. Proc Natl Acad Sci USA 45:1236–1240

    Google Scholar 

  • Schmidt B, Servidei S, Gabbai AA, Silva AC, Sousa Bulle de, Oliveira A de, DiMauro S (1987) McArdle's disease in two generations: autosomal recessive transmission with manifesting heterozygote. Neurology 37:1558–1561

    Google Scholar 

  • Servidei S, Shanske S, Zeviani M, Lebo R, Fletterick R, DiMauro S (1988) McArdle disease: biochemical and molecular genetic studies. Ann Neurol 24:774–781

    Google Scholar 

  • Wallis PG, Sidbury JB Jr, Harris RC (1966) Hepatic phosphorylase defect. Studies on peripheral blood. Am J Dis Child 111:278–282

    Google Scholar 

  • Wosilait WD, Sutherland EW (1956) The relationship of epinephrine and glucagon to liver phosphorylase. II. Enzymatic inactivation of liver phosphorylase. J Biol Chem 218:469–481

    Google Scholar 

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Authors and Affiliations

  1. Departments of Obstetrics, Gynecology, and Pediatrics, University of California, 94143-0720, San Francisco, CA, USA

    Roger V. Lebo, Lee A. Anderson & Eric Lynch

  2. Department of Biochemistry and Biophysics, University of California, 94143-0720, San Francisco, CA, USA

    Peter Hwang & Robert Fletterick

  3. Department of Neurology, Columbia College of Physicians and Surgeons, 722 West 168th Street, 10032, New York, NY, USA

    Salvatore DiMauro

Authors
  1. Roger V. Lebo
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  2. Lee A. Anderson
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  3. Salvatore DiMauro
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  4. Eric Lynch
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  5. Peter Hwang
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  6. Robert Fletterick
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Lebo, R.V., Anderson, L.A., DiMauro, S. et al. Rare McArdle disease locus polymorphic site on 11q13 contains CpG sequence. Hum Genet 86, 17–24 (1990). https://doi.org/10.1007/BF00205166

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  • DOI: https://doi.org/10.1007/BF00205166

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