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. 1985 Mar;37(2):235–249.

Localization of DNA sequences in region Xp21 of the human X chromosome: Search for molecular markers close to the duchenne muscular dystrophy locus

B de Martinville, L M Kunkel, G Bruns, F Morlé, M Koenig, J L Mandel, A Horwich, S A Latt, J F Gusella, D Housman, U Francke
PMCID: PMC1684559  PMID: 2984924

Abstract

Panels of somatic cell hybrid lines carrying various structural rearrangements of the human X chromosome short arm were analyzed with 21 X-chromosome-specific cloned DNA fragments. We mapped these molecular markers to five different regions of the short arm of the X chromosome. The results were confirmed by gene-dosage studies of human lymphoblasts with structurally abnormal X chromosomes. The ornithine transcarbamylase gene and four anonymous DNA sequences map within band Xp21, flanking the presumed locus for Duchenne muscular dystrophy.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Aldridge J., Kunkel L., Bruns G., Tantravahi U., Lalande M., Brewster T., Moreau E., Wilson M., Bromley W., Roderick T. A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet. 1984 May;36(3):546–564. [PMC free article] [PubMed] [Google Scholar]
  2. Bhattacharya S. S., Wright A. F., Clayton J. F., Price W. H., Phillips C. I., McKeown C. M., Jay M., Bird A. C., Pearson P. L., Southern E. M. Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature. 1984 May 17;309(5965):253–255. doi: 10.1038/309253a0. [DOI] [PubMed] [Google Scholar]
  3. Davies K. E., Pearson P. L., Harper P. S., Murray J. M., O'Brien T., Sarfarazi M., Williamson R. Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome. Nucleic Acids Res. 1983 Apr 25;11(8):2303–2312. doi: 10.1093/nar/11.8.2303. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Davies K. E., Young B. D., Elles R. G., Hill M. E., Williamson R. Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometry. Nature. 1981 Oct 1;293(5831):374–376. doi: 10.1038/293374a0. [DOI] [PubMed] [Google Scholar]
  5. Drayna D., Davies K., Hartley D., Mandel J. L., Camerino G., Williamson R., White R. Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms. Proc Natl Acad Sci U S A. 1984 May;81(9):2836–2839. doi: 10.1073/pnas.81.9.2836. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Emanuel B. S., Zackai E. H., Tucker S. H. Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD. J Med Genet. 1983 Dec;20(6):461–463. doi: 10.1136/jmg.20.6.461. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Francke U., Busby N., Shaw D., Hansen S., Brown M. G. Intrachromosomal gene mapping in man: assignment of nucleoside phosphorylase to region 14cen leads to 14q21 by interspecific hybridization of cells with a t(X;14) (p22;q21) translocation. Somatic Cell Genet. 1976 Jan;2(1):27–40. doi: 10.1007/BF01539240. [DOI] [PubMed] [Google Scholar]
  8. Francke U., George D. L., Brown M. G., Riccardi V. M. Gene dose effect: intraband mapping of the LDH A locus using cells from four individuals with different interstitial deletions of 11p. Cytogenet Cell Genet. 1977;19(4):197–207. doi: 10.1159/000130809. [DOI] [PubMed] [Google Scholar]
  9. Francke U. High-resolution ideograms of trypsin-Giemsa banded human chromosomes. Cytogenet Cell Genet. 1981;31(1):24–32. doi: 10.1159/000131622. [DOI] [PubMed] [Google Scholar]
  10. Francke U., Ochs H. D., de Martinville B., Giacalone J., Lindgren V., Distèche C., Pagon R. A., Hofker M. H., van Ommen G. J., Pearson P. L. Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet. 1985 Mar;37(2):250–267. [PMC free article] [PubMed] [Google Scholar]
  11. Francke U., Oliver N. Quantitative analysis of high-resolution trypsin-giemsa bands on human prometaphase chromosomes. Hum Genet. 1978 Dec 18;45(2):137–165. doi: 10.1007/BF00286957. [DOI] [PubMed] [Google Scholar]
  12. Francke U. Random X inactivation resulting in mosaic nullisomy of region Xp21.1----p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease. Cytogenet Cell Genet. 1984;38(4):298–307. doi: 10.1159/000132078. [DOI] [PubMed] [Google Scholar]
  13. Greenstein R. M., Reardon M. P., Chan T. S., Middleton A. B., Mulivor R. A., Greene A. E., Coriell L. L. An (X;11) translocation in a girl with Duchenne muscular dystrophy. Repository identification No. GM1695. Cytogenet Cell Genet. 1980;27(4):268–268. doi: 10.1159/000131496. [DOI] [PubMed] [Google Scholar]
  14. Harper P. S., O'Brien T., Murray J. M., Davies K. E., Pearson P., Williamson R. The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy. J Med Genet. 1983 Aug;20(4):252–254. doi: 10.1136/jmg.20.4.252. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Horwich A. L., Fenton W. A., Williams K. R., Kalousek F., Kraus J. P., Doolittle R. F., Konigsberg W., Rosenberg L. E. Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase. Science. 1984 Jun 8;224(4653):1068–1074. doi: 10.1126/science.6372096. [DOI] [PubMed] [Google Scholar]
  16. Jacobs P. A., Hunt P. A., Mayer M., Bart R. D. Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21. Am J Hum Genet. 1981 Jul;33(4):513–518. [PMC free article] [PubMed] [Google Scholar]
  17. Kapuściński J., Skoczylas B. Simple and rapid fluorimetric method for DNA microassay. Anal Biochem. 1977 Nov;83(1):252–257. doi: 10.1016/0003-2697(77)90533-4. [DOI] [PubMed] [Google Scholar]
  18. Kunkel L. M., Tantravahi U., Eisenhard M., Latt S. A. Regional localization on the human X of DNA segments cloned from flow sorted chromosomes. Nucleic Acids Res. 1982 Mar 11;10(5):1557–1578. doi: 10.1093/nar/10.5.1557. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Kunkel L. M., Tantravahi U., Kurnit D. M., Eisenhard M., Bruns G. P., Latt S. A. Identification and isolation of transcribed human X chromosome DNA sequences. Nucleic Acids Res. 1983 Nov 25;11(22):7961–7979. doi: 10.1093/nar/11.22.7961. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. LITTLEFIELD J. W. SELECTION OF HYBRIDS FROM MATINGS OF FIBROBLASTS IN VITRO AND THEIR PRESUMED RECOMBINANTS. Science. 1964 Aug 14;145(3633):709–710. doi: 10.1126/science.145.3633.709. [DOI] [PubMed] [Google Scholar]
  21. Lindenbaum R. H., Clarke G., Patel C., Moncrieff M., Hughes J. T. Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm. J Med Genet. 1979 Oct;16(5):389–392. doi: 10.1136/jmg.16.5.389. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Lindgren V., de Martinville B., Horwich A. L., Rosenberg L. E., Francke U. Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus. Science. 1984 Nov 9;226(4675):698–700. doi: 10.1126/science.6494904. [DOI] [PubMed] [Google Scholar]
  23. Meera Khan P. Enzyme electrophoresis on cellulose acetate gel: zymogram patterns in mgh-mouse and man--Chinese hamster somatic cell hybrids. Arch Biochem Biophys. 1971 Aug;145(2):470–483. doi: 10.1016/s0003-9861(71)80007-3. [DOI] [PubMed] [Google Scholar]
  24. Miller O. J., Drayna D., Goodfellow P. Report of the Committee on the Genetic Constitution of the X and Y Chromosomes. Cytogenet Cell Genet. 1984;37(1-4):176–204. doi: 10.1159/000132009. [DOI] [PubMed] [Google Scholar]
  25. Moser H. Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention. Hum Genet. 1984;66(1):17–40. doi: 10.1007/BF00275183. [DOI] [PubMed] [Google Scholar]
  26. Murray J. M., Davies K. E., Harper P. S., Meredith L., Mueller C. R., Williamson R. Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy. Nature. 1982 Nov 4;300(5887):69–71. doi: 10.1038/300069a0. [DOI] [PubMed] [Google Scholar]
  27. Norwood T. H., Zeigler C. J., Martin G. M. Dimethyl sulfoxide enhances polyethylene glycol-mediated somatic cell fusion. Somatic Cell Genet. 1976 May;2(3):263–270. doi: 10.1007/BF01538964. [DOI] [PubMed] [Google Scholar]
  28. Page D., de Martinville B., Barker D., Wyman A., White R., Francke U., Botstein D. Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes. Proc Natl Acad Sci U S A. 1982 Sep;79(17):5352–5356. doi: 10.1073/pnas.79.17.5352. [DOI] [PMC free article] [PubMed] [Google Scholar]
  29. Pai G. S., Sprenkle J. A., Do T. T., Mareni C. E., Migeon B. R. Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation. Proc Natl Acad Sci U S A. 1980 May;77(5):2810–2813. doi: 10.1073/pnas.77.5.2810. [DOI] [PMC free article] [PubMed] [Google Scholar]
  30. Pearson S. J., Tetri P., George D. L., Francke U. Activation of human alpha 1-antitrypsin gene in rat hepatoma x human fetal liver cell hybrids depends on presence of human chromosome 14. Somatic Cell Genet. 1983 Sep;9(5):567–592. doi: 10.1007/BF01574259. [DOI] [PubMed] [Google Scholar]
  31. Rigby P. W., Dieckmann M., Rhodes C., Berg P. Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. J Mol Biol. 1977 Jun 15;113(1):237–251. doi: 10.1016/0022-2836(77)90052-3. [DOI] [PubMed] [Google Scholar]
  32. Verellen-Dumoulin C., Freund M., De Meyer R., Laterre C., Frédéric J., Thompson M. W., Markovic V. D., Worton R. G. Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome. Hum Genet. 1984;67(1):115–119. doi: 10.1007/BF00270570. [DOI] [PubMed] [Google Scholar]
  33. Wieacker P., Wienker T. F., Dallapiccola B., Bender K., Davies K. E., Ropers H. H. Linkage relationships between Retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome. Hum Genet. 1983;64(2):143–145. doi: 10.1007/BF00327111. [DOI] [PubMed] [Google Scholar]
  34. Worton R. G., Duff C., Sylvester J. E., Schmickel R. D., Willard H. F. Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes. Science. 1984 Jun 29;224(4656):1447–1449. doi: 10.1126/science.6729462. [DOI] [PubMed] [Google Scholar]
  35. Zatz M., Vianna-Morgante A. M., Campos P., Diament A. J. Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus. J Med Genet. 1981 Dec;18(6):442–447. doi: 10.1136/jmg.18.6.442. [DOI] [PMC free article] [PubMed] [Google Scholar]
  36. de Martinville B., Blakemore K. J., Mahoney M. J., Francke U. DNA analysis of first-trimester chorionic villous biopsies: test for maternal contamination. Am J Hum Genet. 1984 Nov;36(6):1357–1368. [PMC free article] [PubMed] [Google Scholar]

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