Mutations in KERA, encoding keratocan, cause cornea plana

Nature Genetics

Volumn 25, Issue 1, 2000, Pages 91-95

  Pellegata, Natalia S ^a   Dieguez Lucena, Jose L ^b   Joensuu, Tarja ^b   Lau, Stephanie ^c   Montgomery, Kate T ^c   Krahe, Ralf ^a   Kivelä, Tero ^d   Kucherlapati, Raju ^c   Forsius, Henrik ^b   De La Chapelle, Albert ^a,b  

^a THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

^b FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^c ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^d HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; PROTEOGLYCAN;

ARTICLE; CORNEA DISEASE; DNA SEQUENCE; EXON; FINLAND; GENE CLUSTER; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; STOP CODON;

AMINO ACID SEQUENCE; COLLAGEN; CORNEA; CORNEAL DISEASES; EYE PROTEINS; FOUNDER EFFECT; HUMANS; LEUCINE; MOLECULAR SEQUENCE DATA; MUTATION; PHYSICAL CHROMOSOME MAPPING; PROTEOGLYCANS; SEQUENCE ALIGNMENT;

EID: 0034117963     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/75664     Document Type: Article

References (26)

1. Tralstad, R.L., Hayashi, K. & Toole, B.P. Epithelial collagens and glycosaminoglycans in the embryonic cornea. J. Cell. Biol. 62, 815-830 (1974).
2. Wilson, F.M. II. Congenital anomalies of the cornea and conjunctiva, in The Cornea (eds Smolin, G. & Thoft, R.A.) 539-540 (Little, Brown, Boston, 1994).
3. Eriksson, A.W., Lehmann, W. & Forsius, H., Congenital cornea plana in Finland. Clin. Genet. 4, 301-310 (1973).
4. Tahvanainen, E. et al. Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis. Genomics 26, 290-293 (1995).
5. Tahvanainen, E. et al. Linkage disequilibrium mapping of the cornea plana congenita gene CNA2. Genomics 30, 409-414 (1995).
6. Danielson, K.G. et al. The human decorin gene: intron-exon organization, discovery of two alternatively spliced exons in the 5′ untranslated region, and mapping of the gene to chromosome 12q23. Genomics 15, 146-160 (1993).
7. Vetter, U., Vogel, W., Just, W., Young, M.F. & Fisher, L.W. Human decorin gene; intron-exon junctions and chromosomal localization. Genomics 15, 161-168 (1993).
8. Grover, J., Chen, X.-N., Korenberg, J.R. & Roughley, P.J. The human lumican gene. Organization, chromosomal location and expression in articular cartilage. J. Biol. Chem. 270, 21942-21949 (1995).
9. Deere, M. et al. Characterization of human DSPG3, a small dermatan sulfate proteoglycan. Genomics 38, 399-404 (1996).
10. Tahvanainen, E., Sigler-Villanueva, A., Forsius, H., Salo, P. & de la Chapelle, A. Dominantly and recessively inherited cornea plana congenita map to the same small region of chromosome 12. Genome Res. 6, 249-254 (1996).
11. Tahvanainen, E. et al. The genetics of cornea plana congenita. J. Med. Genet. 33, 116-119 (1996).
12. Corpuz, L.M. et al. Molecular cloning and tissue distribution of keratocan. J. Biol. Chem, 271, 9759-9763 (1996).
13. Liu C.-Y. et al. The cloning of the mouse keratocan cDNA and genomic DNA and the characterization of its expression during eye development. J. Biol. Chem. 273, 22584-22588 (1998)
14. Hocking, A.M., Shinomure, T. & McQuillan, D. Leucine-rich repeat glycoproteins of the extracellular matrix. Matrix Biol. 17, 1-19 (1998).
15. Forsius, H. et al. Autosomal recessive cornea plana. A clinical and genetic study of 78 cases in Finland. Acta Ophthalmol. Scand. 76, 196-203 (1998).
16. Funderburgh, J.L. et al. Mimecan, the 25 kDa corneal keratan sulfate proteoglycan, is a product of the gene producing osteoglycin. J. Biol. Chem. 272, 28089-28095 (1997).
17. Spencer, W. H. Cornea. in Ophthalmic Pathology (ed. Spencer, W.H.) 159-177 (W.B. Saunders Company, Philadelphia, 1996).
18. Griffith, M. et al. Functional human corneal equivalents constructed from cell lines. Science 286, 2169-2172 (1999).
19. Sigler-Villanueva, A., Tahvanainen, E., Lindh, S., Dieguez-Lucena, J. & Forsius, H. Autosomal dominant cornea plana: clinical findings in a Cuban family and a review of the literature. Ophthalmic Genet. 18, 55-62 (1997).
20. Burge, C. & Karlin, S. Prediction of complete gene structures in human genomic DNA. J. Mol. Biol. 268, 78-94 (1997).
21. Uberbacher, E.C. & Mural, R.J. Locating protein-coding regions in human DNA sequences by a multiple sensor neural network approach. Proc. Natl Acad. Sci. USA 88, 11261-11265 (1992).
22. Thompson, J.D., Higgins, D.G. & Gibson, T.J. CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acid Res. 22, 4673-4660 (1994).
23. Deere, M. et al. Genomic characterization of human DSPG3. Genome Res. 9, 449-456 (1999).
24. Liechti-Gallati, S., Schneider, V., Neeser, D. & Kraemer, R. Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease. Eur. J. Hum. Genet. 7, 590-598 (1999).
25. Miano, J.M., Garcia, E. & Krahe, R. High resolution radiation hybrid (RH) mapping of human smooth muscle-restricted genes. in Molecular Biology of Vascular Diseases, Methods in Molecular Medicine Series (ed. Baker, A.H.) 25-35 (Humana Press, Tetowa, 1999).
26. Tasheva, E.S., Funderburgh, J.L., Funderburgh, M.L., Corpuz, L.M. & conrad, G.W. Structure and sequence of the gene encoding human keratocan DNA Seq. 10, 67-74 (1999).