Permanent correction of an inherited ectodermal dysplasia with recombinant EDA

Nature Medicine

Volumn 9, Issue 5, 2003, Pages 614-618

  Gaide, Olivier ^a   Schneider, Pascal ^a  

^a UNIVERSITY OF LAUSANNE   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ECTODYSPLASIN A; RECOMBINANT PROTEIN; TUMOR NECROSIS FACTOR RECEPTOR; UNCLASSIFIED DRUG;

ALTERNATIVE RNA SPLICING; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BLOOD PLACENTA BARRIER; CONTROLLED STUDY; EMBRYO; FEMALE; FEVER; GENE MUTATION; HAIR; HUMAN; HUMAN CELL; HYPOHIDROTIC ECTODERMAL DYSPLASIA; MALE; NEWBORN; NONHUMAN; PHENOTYPE; PREGNANCY; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN ENGINEERING; SKIN APPENDAGE; SWEAT GLAND; SYMPTOMATOLOGY; TOOTH; X CHROMOSOME LINKAGE;

AMINO ACID SEQUENCE; ANIMALS; ECTODERMAL DYSPLASIA; FEMALE; MEMBRANE PROTEINS; MICE; MOLECULAR SEQUENCE DATA; PREGNANCY; RECOMBINANT FUSION PROTEINS;

ANIMALIA;

EID: 0037573629     PISSN: 10788956     EISSN: None     Source Type: Journal    
DOI: 10.1038/nm861     Document Type: Article

References (25)

1. Pinheiro, M. & Freire-Maia, N. Ectodermal dysplasias: a clinical classification and a causal review. Am. J. Med. Genet. 53, 153-162 (1994).
2. Clarke, A., Phillips, D.I., Brown, R. & Harper, P.S. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Arch. Dis. Child. 62, 989-996 (1987).
3. Monreal, A.W., Zonana, J. & Ferguson, B. Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. Am. J. Hum. Genet. 63, 380-389 (1998).
4. Srivastava, A.K. et al. The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains. Proc. Natl. Acad. Sci. USA 94, 13069-13074 (1997).
5. Yan, M. et al. Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors. Science 290, 523-527 (2000).
6. Laurikkala, J. et al. Regulation of hair follicle development by the TNF signal ectodysplasin and its receptor Edar. Development 129, 2541-2553 (2002).
7. Schneider, P. et al. Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A. J. Biol. Chem. 276, 18819-18827 (2001).
8. Tucker, A.S. et al. Edar/Eda interactions regulate enamel knot formation in tooth morphogenesis. Development 127, 4691-4700 (2000).
9. Thesleff, I. & Mikkola, M.L. Death receptor signaling giving life to ectodermal organs. Science STKE 2002, PE22 (2002).
10. Srivastava, A.K. et al. Ectodysplasin-A1 is sufficient to rescue both hair growth and sweat glands in Tabby mice. Hum. Mol. Genet. 10, 2973-2981 (2001).
11. Rennert, P.D., Browning, J.L. & Hochman, P.S. Selective disruption of lymphotoxin ligands reveals a novel set of mucosal lymph nodes and unique effects on lymph node cellular organization. Int. Immunol. 9, 1627-1639 (1997).
12. Colcher, D. et al. Pharmacokinetics and biodistribution of genetically-engineered antibodies. Q. J. Nucl. Med. 42, 225-241 (1998).
13. Holler, N. et al. Two adjacent trimeric Fas ligands are required for Fas signaling and formation of a death-inducing signaling complex. Mol. Cell. Biol. 23, 1428-1440 (2002).
14. Kojima, T. et al. TROY, a newly identified member of the tumor necrosis factor receptor superfamily, exhibits a homology with Edar and is expressed in embryonic skin and hair follicles. J. Biol. Chem. 275, 20742-20747 (2000).
15. Kristenova-Cermakova, P., Peterka, M., Lisi, S., Lesot, H. & Peterkova, R. Postnatal lower jaw dentition in different phenotypes of tabby mice. Connect. Tissue Res. 43, 283-288 (2002).
16. Lesot, H. et al. Mouse molar morphogenesis revisited by three-dimensional reconstruction. II. Spatial distribution of mitoses and apoptosis in cap to bell staged first and second upper molar teeth. Int. J. Dev. Biol. 40, 1017-1031 (1996).
17. Monreal, A.W. et al. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat. Genet. 22, 366-369 (1999).
18. Naito, A. et al. TRAF6-deficient mice display hypohidrotic ectodermal dysplasia. Proc. Natl. Acad. Sci. USA 99, 8766-8771 (2002).
19. Headon, D.J. et al. Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature 414, 913-916 (2001).
20. Schmidt-Ullrich, R. et al. Requirement of NF-κB/Rel for the development of hair follicles and other epidermal appendices. Development 128, 3843-3853 (2001).
21. Doffinger, R. et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling. Nat. Genet. 27, 277-285 (2001).
22. Montonen, O. et al. The gene defective in anhidrotic ectodermal dysplasia is expressed in the developing epithelium, neuroectoderm, thymus, and bone. J. Histochem. Cytochem. 46, 281-289 (1998).
23. Jauniaux, E. et al. Materno-fetal immunoglobulin transfer and passive immunity during the first trimester of human pregnancy. Hum. Reprod. 10, 3297-3300 (1995).
24. Ersch, J. & Stallmach, T. Assessing gestational age from histology of fetal skin: an autopsy study of 379 fetuses. Obstet. Gynecol. 94, 753-757 (1999).
25. Schneider, P. Production of recombinant TRAIL and TRAIL receptor: Fc chimeric proteins. Meth. Enzymol. 322, 325-345 (2000).