Heterogeneity and uniqueness of ornithine aminotransferase mutations found in Japanese gyrate atrophy patients

Current Eye Research

Volumn 15, Issue 7, 1996, Pages 792-796

  Mashima, Yukihiko ^a,b   Shiono, Takashi ^c   Tamai, Makoto ^c   Inana, George ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b KEIO UNIVERSITY   (Japan)

^c TOHOKU UNIVERSITY   (Japan)

Author keywords

Gyrate atrophy; Heterogeneity; Japanese; Mutations; Ornithine aminotransferase

Indexed keywords

ORNITHINE OXOACID AMINOTRANSFERASE; PYRIDOXINE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA DETERMINATION; ENZYME DEFICIENCY; EXON; FIBROBLAST; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPERORNITHINEMIA; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRIORITY JOURNAL; RETINA GYRATE ATROPHY;

EID: 0029761982     PISSN: 02713683     EISSN: None     Source Type: Journal    
DOI: 10.3109/02713689609003464     Document Type: Article

References (20)

1. Takki, K. and Simell, O. (1974) Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinemia. Br. J. Ophthalmol. 58, 907-916.
2. Mitchell, G. A., Brody, L. C., Looney, J., Steel, G., Suchanek, M., Dowling, C., Der Kaloustian, V., Kaiser-Kupfer, M. I. and Valle, D. (1988) An initiator codon mutation in ornithine-δ-aminotransferase causing gyrate atrophy of the choroid and retina. J. Clin. Invest. 81, 630-633.
3. Mitchell, G. A., Brody, L. C., Sipila, I., Looney, J. E., Wong, C., Engelhardt, J. F., Patel, A. S., Steel, G., Obie, C., Kaiser-Kupfer, M. I. and Valle, D. (1989) At least two mutant alleles of orinithine δ-aminotransferase cause gyrate atrophy of the choroid and retina in Finns. Proc. Natl. Acad. Sci. USA, 86, 197-201.
4. Mitchell, G. A., Labuda, D., Fontaine, G., Saudubray, J. M., Bonnefont, J. P., Lyonnet, S., Brody, L. C., Steel, G., Obie, C. and Valle, D. (1991) Splice-mediated insertion of Alu sequence inactivates ornithine δ-aminotransferase: a role for Alu elements in human mutation. Proc. Natl. Acad. Sci. USA, 88, 815-819.
5. Ramesh, V., McClatchy, A. I., Ramesh, N., Benoit, L. A., Berson, E. L., Shih, V. E. and Gusella, J. F. (1988) Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy. Proc. Natl. Acad. Sci. USA, 85, 3777-3780.
6. Inana, G., Chambers, C., Hotta, Y., Inouye, L., Filpula, D., Pulford, S. and Shiono, T. (1989) Point mutation affecting processing of the orinithine aminotransferase precursor protein in gyrate atrophy. J. Biol. Chem. 264, 17432-17436.
7. McClatchey, A. I., Kauffman, D. L., Berson, E. L., Tobin, A. J., Shih, V. E., Gusella, J. F. and Ramesh, V. (1990) Splicing defect at the orinithine aminotransferase (OAT) locus in gyrate atrophy. Am. J. Hum. Genet. 47, 790-794.
8. Mashima, Y., Murakami, A., Weleber, R. G., Kennaway, N. G., Clarke, L., Shiono, T. and Inana, G. (1992) Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy. Am. J. Hum. Genet. 51, 81-91.
9. Mashima, Y., Weleber, R. G., Kennaway, N. G. and Inana, G. (1992) A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy. Hum. Genet. 90, 305-307.
10. Akaki, Y., Hotta, Y., Mashima, Y., Murakami, A., Kennaway, N. G., Weleber, R. G. and Inana, G. (1992) A deletion in the ornithine aminotransferase gene in gyrate atrophy. J. Biol. Chem. 267, 12950-12954.
11. Brody, L. C., Mitchell, G. A., Obie, C., Michaud, J., Steel, G., Fontaine, G., Robert, M.-F., Kaiser-Kupfer, M. and Valle, D. (1992) Ornithine δ-aminotransferase mutations in gyrate atrophy: allelic heterogeneity and functional consequences. J. Biol. Chem. 267, 3302-3307.
12. Park, J. K., Herron, B. J., O'Donnel, J. J., Shih, V. E. and Ramesh, V. (1992) Three novel mutations of the ornithine aminotransferase (OAT) gene in gyrate atrophy. Genomics, 14, 553-554.
13. Dietz, H. C., Valle, D., Francomano, C. A., Kendzior, R. J., Pyeritz, R. E. and Cutting, G. R. (1993) The skipping of constitutive exons in vivo induced by nonsense mutations. Science, 259, 680-683.
14. Kennaway, N. G., Stankova, L., Wirtz, M. K. and Weleber, R. G. (1989) Gyrate atrophy of the choroid and retina: characterization of mutant ornithine aminotransferase and mechanism of response to vitamin B6. Am. J. Hum. Genet. 44, 344-352.
15. Weleber, R. G., Wirtz, M. K. and Kennaway, N. G. (1982) Gyrate atrophy of the choroid and retina: clinical and biochemical heterogeneity and response to vitamin B6. Birth Defects, 18, 219-230.
16. Takki, K. and Milton, R. C. (1981) The natural history of gyrate atrophy of the choroid and retina. Ophthalmology, 88, 292-301.
17. Nevanlinna, H. R. (1980) Population Structure and Genetic Disorders, (Eds. Eriksson, A. W., Forsius, H. R., Nevanlinna, H. R., Workman, P. L. and Norio, R. K.). Pp. 569-576. Academic, London.
18. Nakajima, H., Hayasaka, S., Shiono, T., Watanabe, S., Mizuno, K., Saito, T., Tada, K., Watanabe, S. and Ohba, N. (1981) A case of gyrate atrophy of the choroid and retina associated with hyperornithinemia. Jpn. J. Ophthalmol. 25, 495-500.
19. Hayasaka, S., Saito, T., Nakajima, H., Takaku, Y., Shiono, T., Mizuno, K., Ohmura, K. and Tada, K. (1981) Gyrate atrophy with hyperornithinaemia: different types of responsiveness to vitamin B6. Brit. J. Ophthalmol. 65, 478-483.
20. Hayasaka, S., Shoji, K., Kanno, C. -I., Oura, F. and Mizuno, K. (1985) Differential diagnosis of diffuse choroidal atrophies: diffuse choriocapillaris atrophy, choroideremia, and gyrate atrophy of the choroid and retina. Retina, 5, 30-37.