Tenascin-X deficiency is associated with Ehlers-Danlos syndrome

Nature Genetics

Volumn 17, Issue 1, 1997, Pages 104-108

  Burch, Grant H ^a   Gong, Yan ^a   Liu, Wenhui ^a   Dettman, Robert W ^a   Curry, Cynthia J ^b   Smith, Lynne ^c   Miller, Walter L ^a   Bristow, James ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b Valley Children's Hospital Fresno County   (United States)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

STEROID 21 MONOOXYGENASE; TENASCIN;

ADULT; ARTICLE; CASE REPORT; EHLERS DANLOS SYNDROME; GENE DELETION; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; SKIN FIBROBLAST; STEROID 21 MONOOXYGENASE DEFICIENCY;

ADULT; ALLELES; BIOPSY; CELLS, CULTURED; EHLERS-DANLOS SYNDROME; FEMALE; FIBROBLASTS; HUMANS; MALE; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE DELETION; SKIN; TENASCIN;

EID: 0030843025     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0997-104     Document Type: Article

References (31)

1. Morel, Y., Bristow, J., Gitelman, S.E. & Miller, W.L Transcript encoded on the opposite strand of the human steroid 21-hydroxylase/complement component C4 gene locus. Proc. Natl. Acad. Sci. USA 86, 6582-6586 (1989).
2. Bristow, J., Tee, M.K., Gitelman, S.E., Mellon, S.H. & Miller, W.L. Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B. J. Cell Biol. 122, 265-278 (1993).
3. Matsumoto, K. et al. Cluster of fibronectin type III repeats found in the human major histocompatibility complex class III region shows the highest homology with the repeats in an extracellular matrix protein, tenascin. Genomics 12, 485-491 (1992).
4. Erickson, H.P. & Iglesias, J.L. A six-armed oligomer isolated from cell surface fibronectin preparations. Nature 311, 267-269 (1984).
5. Chiquet-Ehrismann, R., Mackie, E.J., Pearson, C.A. & Sakakura, T. Tenascin: an extracellular matrix protein involved in tissue integrations during fetal development and oncogenesis. Cell 47, 131-139 (1986).
6. Jones, F.S. et al. A cDNA clone for cytotactin contains sequences similarto epidermal growth factor-like repeats and segments of fibronectin and fibrinogea Proc. Natl. Arad. Sci. USA 85, 2186-2190 (1988).
7. Nörenberg, U., Wille, H., Wolff, J.M., Frank, R. & Rathjen, F.G. The chicken neural extracellular matrix molecule restrictin: similarity with EGF-, fibronectin type III-, and fibrinogen-like motifs. Neuron 8, 849-863 (1992).
8. Fuss, B., Wintergerst, E. & Schachner, M. Molecular characterization of the neural recognition molecule J1-160/180: a modular structure similar to tenascin. J. Cell Biol. 120, 1237-1249 (1993).
9. Erickson, H.P. Tenascin-C, tenascin-R and tenascin-X: a family of talented proteins in search of functions. Cure Opin. Cell Biol. 5, 869-876 (1993).
10. Byers, P.M. Ehlers-Danlos syndrome: recent advances and current understanding of the clinical and genetic heterogeneity. J. Invest Dermatol. 103, 47S-52S (1994).
11. Matsumoto, K., Saga, Y., Ikemura, T., Sakakura, T. & Chiquet-Ehrismann, R. The distribution of tenascin-X is distinct and often reciprocal to that of tenascin-C J. Cell Biol. 125, 483-493 (1994).
12. Burch, G.H., Bedolli, M.A., McDonough, S., Rosenthal, S.M. & Bristow, J. Embryonic expression of tenascin-X suggests a role in limb, muscle, and heart development Dev. Dyn. 203, 491-504 (1995).
13. Geffrotin, C., Garrido, J.J., Tremet, L. & Vaiman, M. Distinct tissue distribution in pigs of tenascin-X and tenascin-C transcripts. Eur. J. Biochem. 231, 83-92 (1995).
14. Gitelman, S.E., Bristow, J. & Miller, W.L. Mechanism and consequences of the duplication of the human C4/P450c21/gene × locus. Mol. Cell. Biol. 12, 2124-2134 (1992).
15. Matsumoto, K., Ishihara, N., Ando, A., Inoko, H. & Ikemura, T. Extracellular matrix protein tenascin-like gene found in human MHC class III region, Immunogenetics 36, 400-403 (1992).
16. Hausser, I. & Anton-Lamprecht, I. Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types HV as a means of diagnostics and classification. Hum. Genet 93, 394-407 (1994).
17. White, P.C., Vitek, A., Dupont, B. & New, M.I. Characterization of frequent deletions causing steroid 21-hydroxylase deficiency. Proc. Natl. Acad. Sci. USA 85, 4436-4440 (1988).
18. Sinnott, P. et al. Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency. Proc. Natl. Acad. Sci. USA 87, 2107-2111 (1990).
19. Morel, Y. et al. Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia. J. Clin. Invest. 83, 527-536 (1989).
20. Saga, Y., Yagi, T., Ikawa, Y., Sakakura, T. & Aizawa, S. Mice develop normally without tenascin. Genes Dev. 6, 1821-1831 (1992).
21. Forsberg, E. et al. Skin wounds and severed nerves heal normally in mice lacking tenascin-C Proc. Natl. Acad. Sci. USA 93, 6594-6599 (1996).
22. Smith, L.T., Schwarze, U., Goldstein, J. & Byers, P.M. Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis. J. Invest Dermatol. 108, 241-247 (1997).
23. Eyre, D.R., Shapiro, F.D. & Aldridge, J.F. A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII: evidence for a deleted amino-telopeptide domain in the pro-alpha 2(l) chain. J. Biol Chem. 260, 11322-11329 (1985).
24. Wirtz, M.K., Glanville, R.W., Steinmann, B., Rao, V.H. & Hollister, D.W. Ehlers-Danlos syndrome type VIIB: deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain. J. Biol. Chem. 262, 16376-16385 (1987).
25. Toriello, H.V. et al. A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito. Nature Genet 13, 361-365 (1996).
26. De Paepe, A., Nuytinck, L., Hausser, I., Anton-Lamprecht, I. & Naeyaert, J.M. Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. Am. J. Hum. Genet 60, 547-554 (1997).
27. Wenstrup, R.J., Langland, G.T., Willing, M.C., D'Souza, V.N. & Cole, W.G. A splicejunction mutation in the region of COLSA1 that codes for the carboxyl propeptide of proa1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I). Hum. Mol. Genet 5, 1733-1736 (1996).
28. Pinnell, S.R., Krane, S.M., Kenzora, J.E. & Glimcher, M.J. A heritable disorder of connective tissue: hydroxylysine-deficient collagen disease. N. Engl. J. Med. 286, 1013-1020 (1972).
29. Smith, L.T. et al. Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen. Am. J. Hum. Genet 51, 235-244 (1992).
30. Bristow, J., Gitelman, S.E., Tee, M.K., Staels, B. & Miller, W.L. Abundant adrenal-specific transcription of the human P450c21A 'pseudogene'. J. Biol. Chem. 268, 12919-12924 (1993).
31. Collier, S. et al. Pulsed field gel electrophoresis identifies a high degree of variability in the number of tandem 21-hydroxylase and complement C4 gene repeats in 21-hydroxylase deficiency haplotypes. EMBO J. 8, 1393-1402 (1989).