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Expression of the fragile (X) chromosome in an interspecific somatic cell hybrid

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Summary

Interspecific somatic cell hybrids were constructed between a Chinese hamster lung cell line deficient in hypoxanthine phosphoribosyltransferase and two lymphoblastoid cultures (GM 4025 and GM 3200) from unrelated males affected with the fragile (X) syndrome. Thirteen independent colonies survived selection in hypoxanthine-azaserine, while only one colony survived selection in hypoxanthine-aminopterin-thymidine. One hybrid formed from GM 4025 was found to contain a human X chromosome as the only detectable human chromosome in the majority of cells analyzed. Induction of fragile (X) expression in this hybrid at frequencies up to 20% was achieved by treatments with 5-fluoro-2′-deoxyuridine (5×10-8 M or 1×10-7 M) or methotrexate (5×10-6 or 1×10-5) for 12 h. Use of the somatic cell hybrid system may allow study of the fragile (X) from different patients on a homogeneous xenogeneic background and may provide a better system for characterization of the fragile (X) at the biochemical and molecular level.

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References

  • Alhadeff B, Velivasakis M, Siniscalco M (1977) Simultaneous identification of chromatid replication and of human chromosomes in metaphases of man-mouse somatic cell hybrids. Cytogenet Cell Genet 19:236–239

    Google Scholar 

  • Brookwell R, Daniel A, Turner G, Fishburn J (1982) The fragile (X) (q27) form of X-linked mental retardation: FUdR as an inducing agent for fra(X) (q27) expression in lymphocytes, fibroblasts, and amniocytes. Am J Med Genet 13:139–148

    Google Scholar 

  • Bryant EM, Hoehn H, Martin GM (1981) Expression of the fragile X in cuploid somatic cell hybrids?. Am J Hum Genet 33: 99A

  • Eberle G, Zankl M (1982a) Cocultivation studies with cells of patients bearing fragile X chromosomes. Hum Genet 61:163–164

    Google Scholar 

  • Eberle G, Zankl M, Zankl H (1982b) The expression of fragile X chromosomes in members of the same family at different times of examination. Hum Genet 61:254–255

    Google Scholar 

  • Fuscoe JC, Fenwick RG, Ledbetter DH, Caskey CT (1983) Deletion and amplification of the HPRT locus in Chinese hamster cells. J Mol Cell Biol 3:1086–1096

    Google Scholar 

  • Glover TW (1981) FUdR induction of the X chromosome fragile site. Am J Hum Genet 33:234–242

    Google Scholar 

  • Jacobs JA, Glover TW, Mayer M, Fox P, Gerrard JW, Dunn HG, Herbst DS (1980) X-linked mental retardation: a study of 7 families. Am J Med Genet 7:471–490

    Google Scholar 

  • Jacobs PA, Hunt PA, Mayer M, Wang J-C, Boss GR, Erbe RW (1982) Expression of the marker (X)(q28) in lymphoblastoid cell lines. 34:552–557

    Google Scholar 

  • Mattei MG, Mattei JF, Vidal I, Giraud F (1981) Expression in lymphocyte and fibroblast culture of the fragile X chromosome: A new technical approach. Hum Genet 59:166–169

    Google Scholar 

  • Seabright M (1971) A rapid banding technique for human chromosomes. Lancet ii:971–972

    Google Scholar 

  • Sutherland GR (1977) Fragile sites on human chromosomes: Demonstration of their dependence of the types of tissue culture medium. Science 197:265–266

    Google Scholar 

  • Sutherland GR (1979a) Heritable fragile sites on human chromosomes. I: Effect of composition of culture medium on expression. Am J Hum Genet 31:125–135

    Google Scholar 

  • Sutherland GR (1979b) Heritable fragile sites on human chromosomes. II: Distribution, phenotypic effects, and cytogenetics. Am J Hum Genet 31:136–148

    Google Scholar 

  • Sutherland GR (1979c) Heritable fragile sites on human chromosomes. III: Detection of fra(X)(q27) in males with X-linked mental retardation and in their female relatives. Hum Genet 53:23–27

    Google Scholar 

  • Tommerup N, Poulsen H, Brondum-Nielsen K (1981) 5-fluoro-2′-deoxyuridine induction of the fragile site on Xq28 associated with X-linked mental retardation. J Med Genet 18:374–376

    Google Scholar 

  • Turner G, Jacobs PA (to be published) Marker (X) linked mental retardation. Adv Hum Genet 13

  • Turner G, Daniel A, Frost M (1980) X-linked mental retardation, macro-orchidism, and the Xq27 fragile site. J Pediatr 96:837–841

    Google Scholar 

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Authors and Affiliations

  1. Howard Hughes Medical Institute Laboratory, Baylor College of Medicine, 77030, TX, Houston, USA

    R. L. Nussbaum

  2. Kleberg Cytogenetics Laboratory, Baylor College of Medicine, 77030, Houston, TX, USA

    Susan D. Airhart & D. H. Ledbetter

  3. Department of Medicine, Baylor College of Medicine, 77030, Houston, TX, USA

    R. L. Nussbaum, Susan D. Airhart & D. H. Ledbetter

Authors
  1. R. L. Nussbaum
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  2. Susan D. Airhart
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  3. D. H. Ledbetter
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Supported in part by the Howard Hughes Medical Institute, Muscular Dystrophy Association Center Grant Project 11 and the Robert J. Kleberg Center for Human Genetics

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Nussbaum, R.L., Airhart, S.D. & Ledbetter, D.H. Expression of the fragile (X) chromosome in an interspecific somatic cell hybrid. Hum Genet 64, 148–150 (1983). https://doi.org/10.1007/BF00327113

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  • DOI: https://doi.org/10.1007/BF00327113

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