Partial defects in transcriptional activity of two novel DAX-1 mutations in childhood-onset adrenal hypoplasia congenita

Clinical Endocrinology

Volumn 65, Issue 5, 2006, Pages 681-686

  Laissue, Paul ^a   Copelli, Silvia ^b   Bergada, Ignacio ^c   Bergada, Cesar ^c   Barrio, Gabriel ^b   Karaboga, Sinan ^d   Wurtz, Jean Marie ^d   Fellous, Marc ^a   Lalli, Enzo ^e   Veitia, Reiner A ^a,f  

^a INSERM   (France)

^b Universidad CAECE   (Argentina)

^c HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

^d INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^e INSTITUT DE PHARMACOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^f E21 INSERM Hôpital Cochin Pavillon Baudelocque ^*  (France)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN; FOLLITROPIN; HYDROCORTISONE; LUTEINIZING HORMONE; NUCLEAR RECEPTOR DAX 1;

ADRENAL CORTEX ATROPHY; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CELLULAR DISTRIBUTION; CONGENITAL ADRENAL HYPOPLASIA; DAX 1 GENE; EPIGENETICS; GENE; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; IMMUNOCYTOCHEMISTRY; IN VITRO SELECTION; IN VITRO STUDY; LIGAND BINDING; MALE; MOLECULAR INTERACTION; NEWBORN; ONSET AGE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN LOCALIZATION; STRUCTURE ACTIVITY RELATION; TRANSCRIPTION REGULATION;

ADRENAL GLANDS; ADRENAL INSUFFICIENCY; CHILD; CHILD, PRESCHOOL; DAX-1 ORPHAN NUCLEAR RECEPTOR; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; HELA CELLS; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; MALE; MUTATION; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, RETINOIC ACID; REPRESSOR PROTEINS; STRUCTURE-ACTIVITY RELATIONSHIP; TRANSCRIPTION, GENETIC; TRANSFECTION;

EID: 33750083295     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2006.02649.x     Document Type: Article

References (18)

1. Muscatelli, F., Strom, T.M., Walker, A.P., Zanaria, E., Recan, D., Meindl, A., Bardon, B., Guioli, S., Zehetner, G., Rabl, W., Schwarz, H.P., Kaplan, J.C., Camerino, G., Meitinger, T. & Monaco, A.P. (1994) Mutations in the DAX1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature, 372, 672-676.
2. Zanaria, E., Muscatelli, F., Bardoni, B., Strom, T.M., Guioli, S., Guo, W., Lalli, E., Moser, C., Walker, A.P., McCabe, E.R.B., Meitinger, T., Monaco, A.P., Sassone-Corsi, P. & Camerino, G. (1994) An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature, 372, 635-641.
3. Bardoni, B., Zanaria, E., Guioli, S., Floridia, G., Worley, K.C., Tonini, G., Ferrante, E., Chiumello, G., McCabe, E.R.B., Fraccaro, M., Zuffardi, O. & Camerino, G. (1994) A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nature Genetics, 7, 497-501.
4. Reutens, A.T., Achermann, J.C., Ito, M., Ito, M., Gu, W.X., Habiby, R.L., Donohoue, P.A., Pang, S., Hindmarsh, P.C. & Jameson, J.L. (1999) Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. Journal of Clinical Endocrinology and Metabolism, 84, 504-511.
5. Phelan, J.K. & McCabe, E.R. (2001) Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita. Human Mutation, 18, 472-487.
6. Lalli, E. & Sassone-Corsi, P. (2003) DAX-1, an unusual orphan receptor at the crossroads of steroidogenic function and sexual differentiation. Molecular Endocrinology, 17, 1445-1453.
7. Lalli, E., Bardoni, B., Zazopoulos, E., Wurtz, J.M., Strom, T.M., Moras, D. & Sassone-Corsi, P. (1997) A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita. Molecular Endocrinology, 11, 1950-1960.
8. Zhang, Y.-H., Guo, W., Wagner, R.L., Huang, B.-L., McCabe, L., Vilain, E., Burris, T.P., Anyane-Yeboa, K., Burghes, H.M., Chitayat, D., Chudley, A.E., Genel, M., Gertner, J.M., Klingensmith, G.J., Levine, S.N., Nakamoto, J., New, M.I., Pagon, R.A., Pappas, J.G., Quigley, C.A., Rosenthal, I.M., Baxter, J.D., Fletterick, R.J. & McCabe, E.R.B. (1998) DAX1 mutations map to putative structural domains in a deduced threedimensional model. American Journal of Human Genetics, 62, 855-864.
9. Lehmann, S.G., Lalli, E. & Sassone-Corsi, P. (2002) X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein. Proceedings of the National Academy of Sciences of the USA, 99, 8225-8230.
10. Lehmann, S.G., Wurtz, J.M., Renaud, J.P., Sassone-Corsi, P. & Lalli, E. (2003) Structure-function analysis reveals the molecular determinants of the impaired biological function of DAX-1 mutants in AHC patients. Human Molecular Genetics, 12, 1063-1072.
11. Tamai, K.T., Monaco, L., Alastalo, T.P., Lalli, E., Parvinen, M. & Sassone-Corsi, P. (1996) Hormonal and developmental regulation of DAX-1 expression in Sertoli cells. Molecular Endocrinology, 10, 1561-1569.
12. Caburet, S., Demarez, A., Moumne, L., Fellous, M., De Baere, E. & Veitia, R.A. (2004) A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation. Journal of Medical Genetics, 41, 932-936.
13. Ozisik, G., Mantovani, G., Achermann, J.C., Persani, L., Spada, A., Weiss, J., Beck-Peccoz, P. & Jameson, J.L. (2003) An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita. Journal of Clinical Endocrinology and Metabolism, 88, 417-423.
14. Zazopoulos, E., Lalli, E., Stocco, D.M. & Sassone-Corsi, P. (1997) DNA binding and transcriptional repression by DAX-1 blocks steroidogenesis. Nature, 390, 311-315.
15. Nakae, J., Tajima, T., Kusuda, S., Kohda, N., Okabe, T., Shinohara, N., Kato, M., Murashita, M., Mukai, T., Imanaka, K. & Fujieda, K. (1996) Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita. Journal of Clinical Endocrinology and Metabolism, 81, 3680-3685.
16. Yanase, T., Takayanagi, R., Oba, K., Nishi, Y., Ohe, K. & Nawata, H. (1996) New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. Journal of Clinical Endocrinology and Metabolism, 81, 530-535.
17. Tabarin, A., Achermann, J.C., Recan, D., Bex, V., Bertagna, X., Christin-Maitre, S., Ito, M., Jameson, J.L. & Bouchard, P. (2000) A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. Journal of Clinical Investigation, 105, 321-328.
18. Achermann, J.C., Ito, M., Silverman, B.L., Habiby, R.L., Pang, S., Rosler, A. & Jameson, J.L. (2001) Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression. Journal of Clinical Endocrinology and Metabolism, 86, 3171-3175.