Identification of the gene responsible for gelatinous drop-like corneal dystrophy

Nature Genetics

Volumn 21, Issue 4, 1999, Pages 420-423

  Tsujikawa, Motokazu ^a   Kurahashi, Hiroki ^a   Tanaka, Toshihiro ^a   Nishida, Kohji ^a   Shimomura, Yoshikazu ^a   Tano, Yasuo ^a   Nakamura, Yusuke ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOIDOSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLINDNESS; CORNEA DYSTROPHY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCATION; GENETIC ANALYSIS; GENETIC LINKAGE; HAPLOTYPE; HUMAN; HUMAN CELL; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION;

AMYLOIDOSIS; ANIMALS; ANTIGENS, NEOPLASM; BINDING SITES; CELL ADHESION MOLECULES; CLONING, MOLECULAR; CORNEAL DYSTROPHIES, HEREDITARY; COS CELLS; FEMALE; GENETIC MARKERS; HELA CELLS; HOMOZYGOTE; HUMANS; JAPAN; LINKAGE DISEQUILIBRIUM; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHOSPHATIDYLINOSITOL 4,5-DIPHOSPHATE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RECOMBINANT PROTEINS; SEQUENCE ANALYSIS;

EID: 0032900158     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/7759     Document Type: Article

References (20)

1. Nakaizumi, G. A rare case of corneal dystrophy. Acta Soc. Ophthalmol. Jpn 18, 949-950 (1914).
2. Mondino, B.J., Rabb, M.F., Sugar, J., Sundar Raj, C.V. & Brown, S.I. Primary familial amyloidosis of the cornea. Am. J. Ophthalmol. 92, 732-736 (1981).
3. Weber, F.L. & Bable, J. Gelatinous drop-like dystrophy: a form of primary corneal amyloidosis. Arch. Ophthalmol. 98, 144-148 (1980).
4. Smolin, G. Corneal dystrophies and degenerations. in Cornea (eds Smolin, G. & Thoft, R.) 499-533 (Little, Brown Company, Boston, 1994).
5. Santo, R.M., Yamaguchi, T., Kanai, A., Okisaka, S. & Nakajima, A. Clinical and histopathologic features of corneal dystrophies in Japan. Ophthalmology 102, 557-567 (1995).
6. Tsujikawa, M. et al. Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy (GDLD) to chromosome 1p. Am. J. Hum. Genet. 63, 1073-1077 (1998).
7. Linnenbach, A.J. et al. Sequence investigation of the major gastrointestinal tumor-associated antigen gene family, GA733. Proc. Natl Acad Sci. USA 86, 27-31 (1989).
8. Miotti, S. et al. Characterization of human ovarian carcinoma-associated antigens defined by novel monoclonal antibodies with tumor-restricted specificity. Int. J. Cancer 39, 297-303(1987).
9. Stein, R., Basu, A., Chen, S., Shih, L.B. & Goldenberg, D.M. Specificity and properties of MAb RS7-3G11 and the antigen defined by this pancarcinoma monoclonal antibody. Int. J. Cancer 55, 938-946 (1993).
10. Malthiery, Y. & Lissitzky, S. Primary structure of human thyroglobulin deduced from the sequence of its 8448-base complementary DNA. Eur. J. Biochem. 165, 491-98 (1987).
11. Kiefer, M.C., Masiarz, F.R., Bauer, D.M. & Zapf, J. Identification and molecular cloning of two new 30-kDa insulin-like growth factor binding proteins isolated from adult human serum. J. Biol. Chem. 266, 9043-9049 (1991).
12. El-Sewedy, T., Fornaro, M. & Alberti, S. Cloning of the murine TROP2 gene: conservation of a PIP2-binding sequence in the cytoplasmic domain of TROP2. Int. J. Cancer 75, 324-330 (1998).
13. Yu, F.X., Sun, H.Q., Janmey, PA. & Yin, H.L. Identification of a polyphosphoinositide-binding sequence in an actin monomer-binding domain of gelsolin. J. Biol. Chem. 267, 14616-14621 (1992).
14. Pitcher, J.A. et al. Phosphatidylinositol 4,5-bisphosphate (PIP2)-enhanced G protein-coupled receptor kinase (GRK) activity. Location, structure, and regulation of the PIP2 binding site distinguishes the GRK subfamilies. J. Biol. Chem. 271, 249073-24913 (1996).
15. Lambrechts, A. et al. The mammalian profilin isoforms display complementary affinities for PIP2 and proline-rich sequences. EMBO J. 16, 484-494 (1997).
16. Basu, A., Goldenberg, D.M. & Stein, R. The epithelial/carcinoma antigen EGP-1, recognized by monoclonal antibody RS7-3G11, is phosphorylated on serine 303. Int. J. Cancer 62, 472-479 (1995).
17. de la Chapelle, A., Kere, J., Sack, G.H., Tolvanen, R. & Maury, C.P. Familial amyloidosis, Finnish type: G654 - a mutation of the gelsolin gene in Finnish families and an unrelated American family. Genomics 13, 898-901 (1992).
18. Haltia, M. et al. Gelsolin gene mutation - at codon 187 - in familial amyloidosis, Finnish: DNA-diagnostic assay. Am J. Med. Genet. 42, 357-359 (1992).
19. Munier, F.L. et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nature Genet. 15, 247-251 (1997).
20. Kawasaki, K. et al. One-megabase sequence analysis of the human immunoglobulin λ gene locus. Genome Res. 7, 250-261 (1997).