Article | Published:

Cloning the gene for an inherited human disorder—chronic granulomatous disease—on the basis of its chromosomal location

Naturevolume 322pages3238 (1986) | Download Citation

Subjects

Abstract

The gene that is abnormal in the X-linked form of the phagocytic disorder chronic granulomatous disease has been cloned without reference to a specific protein by relying on its chromosomal map position. The transcript of the gene is expressed in the phagocytic lineage of haematopoietic cells and is absent or structurally abnormal in four patients with the disorder. The nucleotide sequence of complementary DNA clones predicts a polypeptide of at least 468 amino acids with no homology to proteins described previously.

Access optionsAccess options

Rent or Buy article

Get time limited or full article access on ReadCube.

from$8.99

All prices are NET prices.

References

  1. 1

    Botstein, D., White, R. L., Skolnick, M. & Davis, R. W. Am. J. hum. Genet. 32, 314–331 (1980).

  2. 2

    Davies, K. E. et al. Nucleic Acids Res. 11, 2303–2312 (1983).

  3. 3

    Monaco, A. P. et al. Nature 316, 842–845 (1985).

  4. 4

    Knowlton, R. G. et al. Nature 318, 380–382 (1985).

  5. 5

    White, R. et al. Nature 318, 382–384 (1985).

  6. 6

    Wainwright, B. J. et al. Nature 318, 384–385 (1985).

  7. 7

    Gusella, J. F. et al. Nature 306, 234–238 (1983).

  8. 8

    Collins, F. & Weissman, S. Proc. natn. Acad. Sci. U.S.A. 81, 6812–6818 (1984).

  9. 9

    Tauber, A. I., Borregaard, N., Simons, E. & Wright, J. Medicine 62, 286–309 (1983).

  10. 10

    Weening, R. S. et al. J. clin. Invest. 75, 915–920 (1985).

  11. 11

    Segal, A. W. et al. New Engl. J. Med. 308, 245–251 (1983).

  12. 12

    Markert, M., Glass, G. A. & Babior, B. M. Proc. natn. Acad. Sci. U.S.A. 82, 3144–3148 (1985).

  13. 13

    Baehner, R.L. et al. Proc. natn. Acad. Sci. U.S.A. 83, 3398–3401 (1986).

  14. 14

    Francke, U. et al. Am. J. hum. Genet. 37, 250–267 (1985).

  15. 15

    Kunkel, L. M. et al. Proc. natn. Acad. Sci. U.S.A. 82, 4778–4782 (1985).

  16. 16

    Coilins, S. J., Ruscetti, F. W., Gallagher, R. E. & Gallo, R. C. Proc. natn. Acad. Sci. U.S.A. 75, 2458–2462 (1978).

  17. 17

    Newburger, P.E. et al. J. biol. Chem. 259, 3771–3776 (1984).

  18. 18

    Young, R. A. & Davis, R. W. Proc. natn. Acad. Sci. U.S.A. 80, 1194–1198 (1983).

  19. 19

    Gubler, U. & Hoffman, B. J. Gene 25, 263–279 (1983).

  20. 20

    Ginsburg, D. et al. Science 228, 1401–1406 (1985).

  21. 21

    Rovera, G., Santoli, D. & Damsky, C. Proc. natn. Acad. Sci. U.S.A. 76, 2779–2783 (1979).

  22. 22

    Volkman, D. J., Buescher, E. S., Gallin, J. I. & Fauci, A. S. J. Immun. 133, 3006–3009 (1984).

  23. 23

    Melton, D. A. et al. Nucleic Acids Res. 12, 7035–7056 (1984).

  24. 24

    Messing, J. Meth. Enzym. 101, 20–78 (1983).

  25. 25

    Dale, R. M. K., McClure, B. A. & Houchins, J. P. Plasmid 13, 31–40 (1985).

  26. 26

    Kozak, M. Nucleic Acids Res. 12, 857–872 (1984).

  27. 27

    Proudfoot, N. J. & Brownless, G. G. Nature 263, 211–214 (1976).

  28. 28

    Nishioka, Y., Leder, A. & Leder, P. Proc. natn. Acad. Sci. U.S.A. 77, 2806–2809 (1980).

  29. 29

    Sharp, P. A. Nature 301, 471–472 (1983).

  30. 30

    Harper, A. M., Chaplin, M. F. & Segal, A. W. Biochem. J. 227, 783–788 (1985).

  31. 31

    Segal, A. W. Lancet i, 1378–1382 (1985).

  32. 32

    Davis, M. Proc. natn. Acad. Sci. U.S.A. 81, 2194–2198 (1984).

  33. 33

    Southern, E. M. J. molec. Biol. 98, 503–517 (1975).

  34. 34

    Michelson, A. M., Markham, A. F. & Orkin, S. H. Proc. natn. Acad. Sci. U.S.A. 80, 472–476 (1983).

  35. 35

    Chirwin, J. M., Przygyla, A. E., MacDonald, R. J. & Rutter, W. J. Biochemistry 18, 5294–5298 (1979).

  36. 36

    Maniatis, T., Fritsch, E. & Sambrook, J. Molecular Cloning: a Laboratory Manual (Cold Spring Harbor Laboratory, New York, 1982).

  37. 37

    Feinberg, A. P. & Vogelstein, B. Analyt. Biochem. 132, 6–13 (1983).

  38. 38

    Strunk, R. C., Whitehead, A. S. & Cole, F. S. J. clin. Invest. 76, 985–990 (1985).

  39. 39

    Sanger, F., Nicklen, S. & Coulson, A. R. Proc. natn. Acad. Sci. U.S.A. 74, 5463–5467 (1977).

  40. 40

    Maxam, A. M. & Gilbert, W. Meth. Enzym. 65, 499–580 (1980).

  41. 41

    Treisman, R., Proudfoot, N. J., Shander, M. & Maniatis, T. Cell 29, 903–911 (1982).

  42. 42

    Francke, U. CytoGenet. Cell Genet. 38, 298–307 (1984).

Download references

Author information

Affiliations

  1. Division of Hematology-Oncology, The Children's Hospital, Dana-Farber Cancer Institute, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, 02115, USA

    • Brigitte Royer-Pokora
    • , Sabra C. Goff
    • , Robert L. Baehner
    •  & Stuart H. Orkin
  2. Division of Genetics, The Children's Hospital, Department of Pediatrics and the Program in Neuroscience, Harvard Medical School, Boston, Massachusetts, 02115, USA

    • Louis M. Kunkel
    •  & Anthony P. Monaco
  3. Division of Cell Biology, The Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, 02115, USA

    • F. Sessions Cole
  4. Division of Pediatric Hematology, Department of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts, 01605, USA

    • Peter E. Newburger
  5. Division of Pediatric Hematology, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan, 48109, USA

    • John T. Curnutte
  6. Howard Hughes Medical Institute, Children's Hospital, Boston, Massachusetts, 02115, USA

    • Stuart H. Orkin

Authors

  1. Search for Brigitte Royer-Pokora in:

  2. Search for Louis M. Kunkel in:

  3. Search for Anthony P. Monaco in:

  4. Search for Sabra C. Goff in:

  5. Search for Peter E. Newburger in:

  6. Search for Robert L. Baehner in:

  7. Search for F. Sessions Cole in:

  8. Search for John T. Curnutte in:

  9. Search for Stuart H. Orkin in:

About this article

Publication history

Received

Accepted

Issue Date

DOI

https://doi.org/10.1038/322032a0

Further reading

Comments

By submitting a comment you agree to abide by our Terms and Community Guidelines. If you find something abusive or that does not comply with our terms or guidelines please flag it as inappropriate.