Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti: The International Incontinentia Pigmenti (IP) Consortium

Nature

Volumn 405, Issue 6785, 2000, Pages 466-472

  Smahl, Asmae ^a   Courtols, G ^b   Vabres, P ^a   Yamaoka, S ^b   Heuertz, S ^a   Munnich, A ^a   Israel A ^b   Helss, Nina S ^c   Klauck, S M ^c   Kloschls, P ^c   Wiemann, S ^c   Poustka, A ^c   Esposlto, Teresa ^d   Bardaroll, T ^d   Gianfrancesco, Fernando ^d   Ciccodicola, A ^d   D'Urso, M ^d   Woffendln, Hayley ^e   Jaklns, T ^e   Donnal, D ^f   Stewart, H ^f   Kenwrick, S J ^e   Aradhya, Swaroop ^g   Yamagata, T ^g   Levy, M ^g   Lewis, R A ^g   Nelson, D L ^g   more..

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b INSTITUT PASTEUR   (France)

^c GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^d INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

^e UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^f ST MARY S HOSPITAL   (United Kingdom)

^g BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN ENHANCER BINDING PROTEIN;

ARTICLE; CONTROLLED STUDY; FEMALE; FETUS; GENE ACTIVATION; GENE EXPRESSION; GENE INACTIVATION; GENE LOCUS; GENE MUTATION; GENE REARRANGEMENT; GENETIC LINKAGE; HUMAN; HUMAN CELL; INCONTINENTIA PIGMENTI; MALE; PRIORITY JOURNAL; X CHROMOSOME DOMINANT DISORDER;

EID: 0034713270     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/35013114     Document Type: Article

References (30)

1. Landy, S. J. & Donnai, D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J. Med. Genet. 30, 53-59 (1993).
2. Parrish, J. E., Scheuerle, A. E., Lewis, R. A., Levy, M. L. & Nelson, D. L. Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2. Hum. Mol. Genet. 5, 1777-1783 (1996).
3. Smahi, A. et al. The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28. Hum. Mol. Genet. 3, 273-278 (1994).
4. Jin, D. Y. & Jeang, K. T. Isolation of full-length cDNA and chromosomal localization of human NF-kappaB modulator NEMO to Xq28. J. Biomed. Sci. 6, 115-120 (1999).
5. Rothwarf, D. M., Zandi, E., Natoli, G. & Karin, M. IKK-γ is an essential regulatory subunit of the IκB kinase complex. Nature 395, 297-300 (1998).
6. Rothwarf, D. & Karin, M. The NF-κB activation pathway: a paradigm in information transfer from membrane to nucleus. Science's Signal Transduction Knowledge Environment (cited 26 October 1999) (http:∥www.stke.org/cgi/content/full/OC_sigtrans;1999/5/rel) (1999).
7. Mercurio, F. et al. IκB kinase (IKK)-associated protein 1, a common component of the heterogeneous IKK complex. Mol. Cell. Biol. 19, 1526-1538 (1999).
8. Israel, A. The IKK complex: an integrator of all signals that activate NF-κB? Trends Cell Biol. 10, 129-133 (2000).
9. Yamaoka, S. et al. Complementation cloning of NEMO, a component of the IκB kinase complex essential for NF-kappaB activation. Cell 93, 1231-1240 (1998).
10. Li, Y. et al. Identification of a cell protein (FIP-3) as a modulator of NF-kappaB activity and as a target of an adenovirus inhibitor of tumor necrosis factor alpha-induced apoptosis. Proc. Natl Acad. Sci. USA 96, 1042-1047 (1999).
11. Jouet, M. et al. Linkage analysis in 16 families with incontinentia pigmenti. Eur. J. Hum. Genet. 5, 168-170 (1997).
12. Lupski, J. R. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet. 14, 417-422 (1998).
13. Lopes, J. et al. Sex-dependent rearrangements resulting in CMT1A and HNPP. Nature Genet. 17, 136-137 (1997).
14. Ghosh, S., May, M. J. & Kopp, E. B. NF-κB and rel proteins: Evolutionary conserved mediators of immune responses. Annu. Rev. Immunol. 16, 225-260 (1998).
15. Van Antwerp, D. J., Martin, S. J., Kafri, T., Green, D. R. & Verma, I. M. Suppression of TNF-α-induced apoptosis by NF-κB. Science 274, 787-789 (1996).
16. Rudolph, D. et al. Severe liver degeneration and lack of NF-κB activation in NEMO/IKKγ-deficient mice. Genes Dev. 14, 854-862 (2000).
17. Beg, A. A., Sha, W. C., Bronson, R. T., Ghosh, S. & Baltimore, D. Embryonic lethality and liver degeneration in mice lacking the RelA component of NF-κB. Nature 376, 167-170 (1995).
18. Doi, T. S. et al. Absence of tumor necrosis factor rescues RelA-deficient mice from embryonic lethality. Proc. Natl Acad. Sci. USA 96, 2994-2999 (1999).
19. Attar, R. M. et al. Genetic approaches to study rel/NF-κB/IκB function in mice. Semin. Cancer Biol. 8, 93-101 (1997).
20. Franzoso, G. et al. Requirement for NF-κB in osteoclast and B-cell development. Genes Dev. 11, 3482-3496 (1997).
21. Iotsova, V. et al. Osteopetrosis in mice lacking nf-kappa-b1 and nf-kappa-b2. Nature Med. 3, 1285-1289 (1997).
22. Hu, Y. I., et al. Abnormal morphogenesis but intact IKK activation in mice lacking the IKKα subunit of IκB kinase. Science 284, 316-320 (1999).
23. Li, Q. T. et al. IKK1-deficient mice exhibit abnormal development of skin and skeleton. Genes Dev. 13, 1322-1328 (1999).
24. Takeda, K. et al. Limb and skin abnormalities in mice lacking IKKα. Science 284, 313-316 (1999).
25. Hughes, A. E. et al. Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. Nature Genet. 24, 45-48 (2000).
26. Alonso, A., Martin, P., Albarran, C., Garcia, O. & Sancho, M. Rapid detection of sequence polymorphisms in the human mitochondrial DNA control region by polymerase chain reaction and single-strand conformation analysis in mutation detection enhancement gels. Electrophoresis 17, 1299-1301 (1996).
27. Ganguly, A., Rock, M. J. & Prockop, D, Conformation sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc. Natl Acad. Sci. USA 90, 10325-10329 (1993).
28. Rice, N. R., MacKichan, M. L. & Israël, A. The precursor of NF-κB p50 has IκB-like functions. Cell 71, 243-253 (1992).
29. Weil, R., Laurent-Winter, C. & Israël, A. Regulation of IκBβ degradation - similarities to and differences from IκBα. J. Biol. Chem. 272, 9942-9949 (1997).
30. Courtois, G., Whiteside, S.T., Sibley, C. H. & Israël, A. Characterization of a mutant cell line that does not activate NF-κB in response to multiple stimuli. Mol. Cell. Biol. 17, 1441-1449 (1997).