Nature 322, 32 - 38 (03 July 1986); doi:10.1038/322032a0

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

Brigitte Royer-Pokora^*, Louis M. Kunkel^†, Anthony P. Monaco^†, Sabra C. Goff^*, Peter E. Newburger^‡, Robert L. Baehner^*, F. Sessions Cole^§, John T. Curnutte & Stuart H. Orkin^*¶�

^*Division of Hematology-Oncology, The Children's Hospital, Dana-Farber Cancer Institute, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA
^†Division of Genetics, The Children's Hospital, Department of Pediatrics and the Program in Neuroscience, Harvard Medical School, Boston, Massachusetts 02115, USA
^§Division of Cell Biology, The Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA
^‡Division of Pediatric Hematology, Department of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts 01605, USA
Division of Pediatric Hematology, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA
^¶Howard Hughes Medical Institute, Children's Hospital, Boston, Massachusetts 02115, USA
^�To whom the correspondence should be addressed

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.

References

1.	Botstein, D., White, R. L., Skolnick, M. & Davis, R. W. Am. J. hum. Genet. 32, 314–331 (1980). | PubMed | ISI | ChemPort |
2.	Davies, K. E. et al. Nucleic Acids Res. 11, 2303–2312 (1983). | PubMed | ISI | ChemPort |
3.	Monaco, A. P. et al. Nature 316, 842–845 (1985). | Article | PubMed | ISI | ChemPort |
4.	Knowlton, R. G. et al. Nature 318, 380–382 (1985). | Article | PubMed | ISI | ChemPort |
5.	White, R. et al. Nature 318, 382–384 (1985). | Article | PubMed | ISI | ChemPort |
6.	Wainwright, B. J. et al. Nature 318, 384–385 (1985). | Article | PubMed | ISI | ChemPort |
7.	Gusella, J. F. et al. Nature 306, 234–238 (1983). | PubMed | ISI | ChemPort |
8.	Collins, F. & Weissman, S. Proc. natn. Acad. Sci. U.S.A. 81, 6812–6818 (1984). | ChemPort |
9.	Tauber, A. I., Borregaard, N., Simons, E. & Wright, J. Medicine 62, 286–309 (1983). | PubMed | ISI | ChemPort |
10.	Weening, R. S. et al. J. clin. Invest. 75, 915–920 (1985). | PubMed | ISI | ChemPort |
11.	Segal, A. W. et al. New Engl. J. Med. 308, 245–251 (1983). | PubMed | ISI | ChemPort |
12.	Markert, M., Glass, G. A. & Babior, B. M. Proc. natn. Acad. Sci. U.S.A. 82, 3144–3148 (1985). | ChemPort |
13.	Baehner, R.L. et al. Proc. natn. Acad. Sci. U.S.A. 83, 3398–3401 (1986). | ChemPort |
14.	Francke, U. et al. Am. J. hum. Genet. 37, 250–267 (1985). | PubMed | ISI | ChemPort |
15.	Kunkel, L. M. et al. Proc. natn. Acad. Sci. U.S.A. 82, 4778–4782 (1985). | ChemPort |
16.	Coilins, S. J., Ruscetti, F. W., Gallagher, R. E. & Gallo, R. C. Proc. natn. Acad. Sci. U.S.A. 75, 2458–2462 (1978). | ChemPort |
17.	Newburger, P.E. et al. J. biol. Chem. 259, 3771–3776 (1984). | PubMed | ISI | ChemPort |
18.	Young, R. A. & Davis, R. W. Proc. natn. Acad. Sci. U.S.A. 80, 1194–1198 (1983). | ChemPort |
19.	Gubler, U. & Hoffman, B. J. Gene 25, 263–279 (1983). | Article | PubMed | ISI | ChemPort |
20.	Ginsburg, D. et al. Science 228, 1401–1406 (1985). | PubMed | ISI | ChemPort |
21.	Rovera, G., Santoli, D. & Damsky, C. Proc. natn. Acad. Sci. U.S.A. 76, 2779–2783 (1979). | ChemPort |
22.	Volkman, D. J., Buescher, E. S., Gallin, J. I. & Fauci, A. S. J. Immun. 133, 3006–3009 (1984). | PubMed | ISI | ChemPort |
23.	Melton, D. A. et al. Nucleic Acids Res. 12, 7035–7056 (1984). | PubMed | ISI | ChemPort |
24.	Messing, J. Meth. Enzym. 101, 20–78 (1983). | Article | PubMed | ISI | ChemPort |
25.	Dale, R. M. K., McClure, B. A. & Houchins, J. P. Plasmid 13, 31–40 (1985). | PubMed | ISI | ChemPort |
26.	Kozak, M. Nucleic Acids Res. 12, 857–872 (1984). | PubMed | ISI | ChemPort |
27.	Proudfoot, N. J. & Brownless, G. G. Nature 263, 211–214 (1976). | PubMed | ISI | ChemPort |
28.	Nishioka, Y., Leder, A. & Leder, P. Proc. natn. Acad. Sci. U.S.A. 77, 2806–2809 (1980). | ChemPort |
29.	Sharp, P. A. Nature 301, 471–472 (1983). | PubMed | ISI | ChemPort |
30.	Harper, A. M., Chaplin, M. F. & Segal, A. W. Biochem. J. 227, 783–788 (1985). | PubMed | ISI | ChemPort |
31.	Segal, A. W. Lancet i, 1378–1382 (1985). | Article |
32.	Davis, M. Proc. natn. Acad. Sci. U.S.A. 81, 2194–2198 (1984). | ChemPort |
33.	Southern, E. M. J. molec. Biol. 98, 503–517 (1975). | PubMed | ISI | ChemPort |
34.	Michelson, A. M., Markham, A. F. & Orkin, S. H. Proc. natn. Acad. Sci. U.S.A. 80, 472–476 (1983). | ChemPort |
35.	Chirwin, J. M., Przygyla, A. E., MacDonald, R. J. & Rutter, W. J. Biochemistry 18, 5294–5298 (1979). | PubMed |
36.	Maniatis, T., Fritsch, E. & Sambrook, J. Molecular Cloning: a Laboratory Manual (Cold Spring Harbor Laboratory, New York, 1982).
37.	Feinberg, A. P. & Vogelstein, B. Analyt. Biochem. 132, 6–13 (1983).
38.	Strunk, R. C., Whitehead, A. S. & Cole, F. S. J. clin. Invest. 76, 985–990 (1985). | PubMed | ISI | ChemPort |
39.	Sanger, F., Nicklen, S. & Coulson, A. R. Proc. natn. Acad. Sci. U.S.A. 74, 5463–5467 (1977). | ChemPort |
40.	Maxam, A. M. & Gilbert, W. Meth. Enzym. 65, 499–580 (1980). | Article | PubMed | ChemPort |
41.	Treisman, R., Proudfoot, N. J., Shander, M. & Maniatis, T. Cell 29, 903–911 (1982). | Article | PubMed | ISI | ChemPort |
42.	Francke, U. CytoGenet. Cell Genet. 38, 298–307 (1984). | PubMed | ISI | ChemPort |