Abstract
X-linked adrenal hypoplasia congenita is a developmental disorder of the human adrenal gland that results in profound hormonal deficiencies and is lethal if untreated. We have isolated the gene responsible for the disease, DAX-1, which is deleted or mutated in X-linked adrenal hypoplasia patients. DAX-1 encodes a new member of the nuclear hormone receptor super-family displaying a novel DNA-binding domain. The DAX-1 product acts as a dominant negative regulator of transcription mediated by the retinoic acid receptor.
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References
Kelch, R. P. et al. Pediatr. Adolesc. Endocrinol. 13, 156–161 (1984).
McKusick, V. A. Mendelian Inheritance in Man 10th edn 1841–1843 (Johns Hopkins Univ. Press, Baltimore, 1992).
Kletter, G. B., Gorski, J. L. & Kelch, R. P. Trends Endocrin. Metab. 2, 123–128 (1991).
Walker, A. P. et al. Hum. molec. Genet. 1, 579–585 (1992).
Worley, K. C. et al. Genomics 13, 957–961 (1992).
Worley, K. C. et al. Genomics 16, 407–416 (1993).
Bardoni, B. et al. Nature Genet. 7, 497–501 (1994).
Stephen, A. F., Gish, W., Miller, W., Myers, E. W. & Lipman, D. J. J. molec. Biol. 215, 403–410 (1990).
Mangelsdorf, D. J., Ong, E. S., Dyck, J. A. & Evans, R. M. Nature 345, 224–229 (1990).
Leid, M. et al. Cell 68, 377–395 (1992).
Mangelsdorf, D. J. et al. Genes Dev. 6, 329–344 (1992).
Oro, A. E., McKeown, M. & Evans, R. M. Nature 347, 298–301 (1990).
Miyajima, N. et al. Nucleic Acids Res. 16, 11057–11066 (1988).
Mlodzik, M., Hiromi, Y., Weber, U., Goodman, C. S. & Rubin, G. M. Cell 60, 211–224 (1990).
Matharu, P. J. & Sweeney, G. E. Biochim. biophys. Acta 1129, 331–334 (1992).
Wang, L-H. et al. Nature 340, 163–166 (1989).
Ladias, J. A. A. & Karathanatis, S. K. Science 251, 561–565 (1991).
Martin, M. M. & Martin, A. L. A. Int. J. adol. Med. Hlth. 1, 119–137 (1985).
Studier, F. W., Rosenberg, A. M., Dunn, J. J. & Dubendorff, J. W. Meth. Enzyme. 185, 60–89 (1990).
Green, S., Issermann, I. & Sheer, E. Nucleic Acids Res. 16, 369 (1988).
Mader, S. et al. EMBO J. 12, 5029–5041 (1993).
de Verneuil, H. & Metzger, D. Nucleic Acids Res. 18, 4489–4497 (1990).
Goonewardena, P., Dahl, N., Ritzen, M., van Ommen, G. J. B. & Petterson, U. Clin. Genet. 35, 5–12 (1989).
Lala, D. S., Rice, D. A. & Parker, K. Molec. Endocrin. 6, 1249–1258 (1992).
Luo, X., Ikeda, Y. & Parker, K. Cell 77, 481–490 (1994).
Leid, M., Kastner, P. & Chambon, P. Trends biochem. Sci. 17, 427–433 (1992).
Kastner, P., Chambon, P. & Leid, M. in Vitamin A in Health and Disease (ed. Blomhoff, R.) 189–238 (Dekker, New York, 1994).
Forman, B. M. & Samuels, H. H. Molec. Endocrin. 4, 1293–1301 (1990).
Nauber, U. et al. Nature 336, 489–492 (1988).
Oro, A. E. et al. R. M. Nature 336, 493–496 (1988).
Rothe, M., Nauber, U. & Jackle, H. EMBO J. 8, 3087–3094 (1989).
Laudet, V., Hanni, C., Coll, J., Catzeflis, F. & Stehelin, D. EMBO J. 11, 1003–1013 (1992).
Laudet, V. et al. Nucleic Acids Res. 19, 1105–1112 (1991).
Liu, C. & Linney, E. Molec. Endocrin. 7, 651–658 (1992).
Ryseck, R-P., Macdonald-Bravo, H., Mattei, M-G., Ruppert, S. & Bravo, R. EMBO J. 8, 3327–3335 (1989).
van der Leede, B., Folkers, G. E., Kruyt, F. A. E. & van der Saag, P. T. Biochem. biophys. Res. Commun. 188, 695–702 (1992).
Kozak, M. J. biol. Chem. 268, 19867–19870 (1991).
Kozak, M. Nucleic Acids Res. 15, 8125–8148 (1987).
Sambrook, J., Fritsch, E. F. & Maniatis, T. Molecular Cloning: A Laboratory Manual (Cold Spring Harbor Laboratory Press, New York, 1989).
Carle, G. F. & Olson, M. V. Nucleic Acids Res. 12, 5647–5664 (1984).
Ballabio, A., Bardoni, B., Guioli, S., Basler, E. & Camerino, G. Genomics 8, 263–270 (1990).
Franco, B. et al. Nature 353, 529–536 (1991).
Mavitio, F. et al. Nature 324, 664–668 (1986).
Molina, C. A., Foulkes, N. S., Lalli, E. & Sassone-Corsi, P. Cell 75, 875–886 (1993).
Foulkes, N. S., Borrelli, E. & Sassone-Corsi, P. Cell 64, 739–749 (1991).
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Zanaria, E., Muscatelli, F., Bardoni, B. et al. An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 372, 635–641 (1994). https://doi.org/10.1038/372635a0
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DOI: https://doi.org/10.1038/372635a0
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