Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2

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Abstract

Neurofibromatosis type 2 (NF2) is a monogenic dominantly inherited disease predisposing carriers to develop nervous system tumours. To identify the genetic defect, the region between two flanking polymorphic markers on chromosome 22 was cloned and several genes identified. One is the site of germ-line mutations in NF2 patients and of somatic mutations in NF2-related tumours. Its deduced product has homology with proteins at the plasma membrane and cytoskeleton Interface, a previously unknown site of action of tumour suppressor genes in humans.

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References

  1. 1

    Tos, M. & Thomsen, J. J. Lar. Otol. 98, 685–692 (1984).

  2. 2

    Martuza, R. L. & Eldridge, R. N. Engl. J. Med. 318, 684–688 (1988).

  3. 3

    Barker, D. et al. Science 236, 1100–1102 (1987).

  4. 4

    Seizinger, B. R. et al. Cell 49, 589–594 (1987).

  5. 5

    Rouleau, G. A. et al. Nature 329, 246–248 (1987).

  6. 6

    Narod, S. A. et al. Am J. hum. Genet. 51, 486–496 (1992).

  7. 7

    Seizinger, B. R., Martuza, R. L. & Gusella, J. F. Nature 332, 644–647 (1986).

  8. 8

    Couturier, J. et al. Cancer Genet. Cytogenet. 45, 55–62 (1990).

  9. 9

    Seizinger, B. R., de la Monte, S., Atkins, L., Gusella, J. F. & Martuza, R. L. Proc. natn. Acad. Sci. U.S.A. 84, 5419–5423 (1987).

  10. 10

    Dumanski, J. P., Carlbom, E., Collins, V. P. & Nordenskjöld, M. Proc. natn. Acad. Sci. U.S.A. 84, 9275–9279 (1987).

  11. 11

    Dumanski, J. P., Rouleau, G. A., Nordenskjöld, M. & Collins, V. P. Cancer Res. 50, 5863–5867 (1990).

  12. 12

    Ruttledge, M. H. et al. Neurology (in the press).

  13. 13

    Delattre, O. et al. Genomics 9, 721–727 (1991).

  14. 14

    Dumanski, J. P. et al. Hum. Genet. 84, 219–222 (1990).

  15. 15

    Zucman, J. et al. Genes Chrom. Cancer 5, 271–277 (1992).

  16. 16

    Lindsay, S. & Bird, A. P. Nature 327, 336–338 (1987).

  17. 17

    Delattre, O. et al. Nature 359, 162–165 (1992).

  18. 18

    Mattei, M. G. et al. Hum. Genet. 80, 293–295 (1988).

  19. 19

    Lees, J., Shneidman, P. S., Skuntz, S. F., Carden, M. J. & Lazzarini, R. A. EMBO J. 7, 1947–1955 (1988).

  20. 20

    Kozac, M. Nucleic Acids Res. 16, 8125–8130 (1966).

  21. 21

    Altshul, S. F. et al. J. molec. Biol. 215, 403–410 (1990).

  22. 22

    Lankes, W. T. & Furthmayr H. Proc. natn. Acad. Sci. U.S.A. 88, 8297–8301 (1991).

  23. 23

    Gould, K. L., Bretscher, A., Esch, F. S. & Hunter, T. EMBO J. 8, 4133–4142 (1989).

  24. 24

    Turunen, O. et al. J. biol. Chem. 264, 16727–16732 (1989).

  25. 25

    Yang, Q. & Tonks, N. K. Proc. natn. Acad. Sci. U.S.A. 88, 5949–5953 (1991).

  26. 26

    Conboy, J., Kan, Y. W., Shohet, S. B. & Mohandas, N. Proc. natn. Acad. Sci. U.S.A. 83, 9512–9516 (1986).

  27. 27

    Kahre, O., Ilves, H. & Speek, M. Molec. cell. Biol. 12, 4242–4248 (1992).

  28. 28

    Myer, R. M., Fisher, S. G., Lerman, L. S. & Maniatis T. Nucleic Acids Res. 13, 3131–3145 (1985).

  29. 29

    Rees, D. J. G., Ades, S. E., Singer, S. J. & Hynes, R. O. Nature 347, 685–689 (1990).

  30. 30

    Jenkins, R. B. et al. Cancer Genet. Cytogenet. 39, 253–279 (1989).

  31. 31

    Tanaka, N. et al. Genes Chrom. Cancer 5, 399–403 (1992).

  32. 32

    Okamoto, M. et al. Nature 331, 273–277 (1988).

  33. 33

    Chen, L. C., Kurisu, W., Ngo, J., Moore, D. & Smith, H. S. Cancer Res. 32, 300 (1991).

  34. 34

    Evans, D. G. R. et al. J. med. Genet. 29, 841–846 (1992).

  35. 35

    Lerman, L. S. & Silverstein, K. Meth. Enzym. 155, 482–501 (1987).

  36. 36

    NIH Consens Dev Conf Consens Statement 9(4), (Dec 11–13 1991).

  37. 37

    van Leewen, C. et al. Nucleic Acids Res. 19, 5805 (1991).

  38. 38

    Spirio, L., Joslyn, G., Nelson, L., Leppert, M. & White, R. Nucleic. Acids Res. 19, 6348 (1991).

  39. 39

    Fontaine, B. et al. Genomics 10, 280–283 (1992).

  40. 40

    Bijisma, E. et al. Genes Chrom. Cancer, 5, 201–205 (1992).

  41. 41

    Desmaze, C., Zucman, J., Delattre, O., Thomas, G. & Aurias, A. Genes Chrom. Cancer 5, 30–34 (1992).

  42. 42

    Maniatis, T., Fritsh, E. F. & Sambrook, J. Molecular Cloning, A Laboratory Manual (Cold Spring Harbor Laboratory Press, New York, 1989).

  43. 43

    Henikoff, S. GENE 28, 357 (1984).

  44. 44

    Olschwang, S., Laurent-Puig, P., Groden, J., White, R. & Thomas G. Am. J. hum Genet 52, 273–279 (1993).

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