Reduced epidermal growth factor receptor expression in hypohidrotic ectodermal dysplasia and Tabby mice

Journal of Clinical Investigation

Volumn 97, Issue 11, 1996, Pages 2426-2432

  Vargas, Gabriel A ^a   Fantino, Emanuelle ^a   George Nascimento, Carlos ^b   Gargus, J Jay ^a   Haigler, Harry T ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b NOVARTIS PHARMA AG   (Switzerland)

Author keywords

epidermal growth factor; epidermal growth factor receptor; hypohidrotic ectodermal dysplasia; morphogenesis; Tabby mouse

Indexed keywords

EPIDERMAL GROWTH FACTOR; EPIDERMAL GROWTH FACTOR RECEPTOR; MESSENGER RNA; RECEPTOR PROTEIN;

ANIMAL TISSUE; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DNA SYNTHESIS; FAMILY HISTORY; FIBROBLAST CULTURE; GENE EXPRESSION; HUMAN; HUMAN CELL; HYPOHIDROTIC ECTODERMAL DYSPLASIA; IMMUNOBLOTTING; INTERNALIZATION; LIVER MEMBRANE; MALE; MEDICAL RECORD; MOUSE; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; RECEPTOR BINDING; SIGNAL TRANSDUCTION; X CHROMOSOME LINKED DISORDER;

EID: 0029977754     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI118689     Document Type: Article

References (35)

1. Clarke, A., D. Phillips, R. Brown, and P. Harper. 1987. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Arch. Dis. Child. 62:989-996.
2. Zonana, J. 1993. Hypohidrotic (anhidrotic) ectodermal dysplasia: molecular genetic research and its clinical applications. Semin. Dermatol. 12:241-246.
3. Zonana, J., A. Clarke, M. Sarfarazi, N.S.T. Thomas, K. Roberts, K. Marymee, and P.S. Harper. 1988. X-linked hypohidrotic ectodermal dysplasia: localization within the region Xq11-21.1 by linkage analysis and implications for carrier detection and prenatal diagnosis. Am. J Hum. Genet. 43:75-85.
4. Zonana, J., M. Jones, D. Browne, M. Litt, P. Kramer, H.W. Becker, and N. Brockdorff. 1992. High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus. Am. J. Hum. Genet. 51:1036-1046.
5. Zonana, J., J. Gault, K.J.P. Davies, M. Jones, D. Browne, M. Litt, N. Brockdorff, S. Rastan, A. Clarke, and N.S.T. Thomas. 1993. Detection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment. Am. J. Hum. Genet. 52:78-84.
6. Zonana, J., K. Roberts, N.S.T. Thomas, and P.S. Harper. 1988. Recognition and reanalysis of a cell line from a manifesting female with X-linked hypohidrotic ectodermal dysplasia and an X;autosome balanced translocation. J. Med. Genet. 25:383-386.
7. J) mutations. In Handbook of Mouse Mutations with Skin and Hair Abnormalities. CRC Press, Inc., Boca Raton, FL. 455-462.
8. Kapalanga, J., and S.R. Blecher. 1990. Effect of the X-linked gene Tabby (Ta) on eyelid opening and incisor eruption in neonatal mice is opposite to that of EGF. Development (Camb.). 108:349-355.
9. Blecher, S.R., J. Kapalanga, and D. Lalonde. 1990. Induction of sweat glands by epidermal growth factor in murine X-linked anhidrotic ectodermal dysplasia. Nature (Lond.). 45:542-544.
10. Pathak, B.G., D.J. Gilbert, C.A. Harrison, N.C. Luetteke, X. Chen, M. Klagsbrun, G.D. Plowman, N.G. Copeland, N.A. Jenkins, and D.C. Lee. 1995. Mouse chromosomal location of three EGF receptor ligands: amphiregulin (Areg), betacellulin (Btc), and heparin-binding EGF (Hegf1). Genomics. 28:116-118.
11. MacDermot, K.D., and M. Hulten. 1990. Female with hypohidrotic ectodermal dysplasia and de novo X:9) translocation. Hum. Genet. 84:577-579.
12. 125I-labeled human epidermal growth factor. Binding, internalization, and degradation in human fibroblasts. J. Cell Biol. 71:159-171.
13. Jansson, J.-O., S. Ekberg, S.B. Hoath, W.G. Beamer, and L.A. Frohman. 1988. Growth hormone enhances hepatic EGFR concentration in mice. J. Clin. Invest. 82:1871-1876.
14. 125I-epidermal growth factor in Balb 3T3 cells. J. Biol. Chem. 255:1239-1241.
15. Haigler, H.T., J.A. McKanna, and S. Cohen. 1979. Direct visualization of the binding and internalization of a ferritin conjugate of epidermal growth factor in human carcinoma cells A-431. J. Cell Biol. 81:382-395.
16. 2 inhibitors. J. Biol. Chem. 262: 6921-6930.
17. Collins, F. 1992. Positional cloning, lets not call it reverse anymore. Nat. Genet. 1:3-6.
18. Carpenter, G. 1987. Receptors for EGF and other polypeptide mitogens. Annu. Rev. Biochem. 56:881-914.
19. Thomas, N.S.T., J. Chelly, J. Zonana, K.J.P. Davies, J. Gault, K.A. Rack, V.J. Buckle, N. Brockdorff, A. Clarke, and A. Monaco. 1993. Characterization of molecular DNA rearrangements within the Xq12-q13.1 region, in three patients with X-linked hypohidrotic ectodermal dysplasia (EDA). Hum. Mol. Genet. 2:1679-1685.
20. Wilson, G.N. 1993. Relevance of the genetics of embryologic development. Growth Genetics and Hormones. 9:1-5.
21. Leutteke, N.C., T.H. Qiu, R.L. Peiffer, P. Oliver, O. Smithies, and D.C. Lee. 1993. TGF-alpha deficiency results in hair follicle and eye abnormalities in targeted and Waved-1 mice. Cell. 73:263-278.
22. Leutteke, N.C., H.K. Phillips, T.H. Qiu, N.G. Copeland, H.S. Earp, N.A. Jenkins, and D.C. Lee. 1994. The mouse waved-2 phenotype results from a point mutation in the EGF receptor tyrosine kinase. Genes & Dev. 8:399-413.
23. Lillien, L. 1995. Changes in retinal cell fate induced by overexpression of EGF receptor. Nature (Lond.). 377:158-162.
24. Carpenter, G., and S. Cohen. 1990. Epidermal growth factor. J. Biol. Chem. 265:7709-7712.
25. Saga, K., and M. Takahashi. 1992. Immunoelectron microscopic localization of EGF in the eccrine and apocrine sweat glands. J. Histochem. Cytochem. 40:241-249.
26. Nanney, L.B., D.M. Stoscheck, L.E. King, Jr., R.A. Underwood, and K.A. Holbrook. 1990. Immunolocalization of EGF receptors in normal developing human skin. J. Invest. Dermatol. 94:742-748.
27. Miettinen, P., J.E. Berger, J. Meneses, Y. Phung, R.A. Pedersen, Z. Werb, and R. Derynck. 1995. Epithelial immaturity and multiorgan failure in mice lacking epidermal growth factor receptor. Nature (Lond.). 376:337-341.
28. Threadgill, D.W., A.A. Dlugosz, L.A. Hansen, T. Tennenbaum, U. Lichti, D. Yee, C. LaMantia, T. Mourton, K. Herrup, R.C. Harris, et al. 1995. Targeted disruption of mouse EGF receptor: effect of genetic background on mutant phenotype. Science (Wash. DC). 269:230-234.
29. Sibilia, M., and E.F. Wagner. 1995. Strain-dependent epithelial defects in mice lacking the EGF receptor. Science (Wash. DC). 269:234-238.
30. Hirata, Y., and D.M. Orth. 1979. Concentrations of epidermal growth factor, nerve growth factor, and submandibular gland renin in male and female mouse tissue and fluids. Endocrinology. 105:1382-1387.
31. Tsutsumi, O., H. Kurachi, and T. Oka. 1986. A physiological role of epidermal growth factor in male reproductive function. Science (Wash. DC). 233: 975-977.
32. Oka, Y., and D.N. Orth. 1983. Human plasma epidermal growth factor/ β-urogastrone is associated with blood platelets. J. Clin. Invest. 72:249-259.
33. Starkey, R.H., and D.N. Orth. 1977. Radioimmunoassay of human epidermal growth factor (urogastrone). J. Clin. Endocrinol. & Metab. 45:1144-1153.
34. Gregory, H., J.E. Holmes, and I.R. Willshire. 1977. Urogastrone levels in the urine of normal adult humans. J. Clin. Endocrinol. & Metab. 45:668-672.
35. Gates, R.E., and L.E. King, Jr. 1982. Calcium facilitates endogenous proteolysis of the EGF receplor-kinase. Mol. Cell. Endocrinol. 27:263-276.