Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies

Human Molecular Genetics

Volumn 9, Issue 3, 2000, Pages 363-366

  Azuma, Noriyuki ^a   Hirakiyama, Asami ^b,c   Inoue, Tadashi ^c   Asaka, Atsuko ^b   Yamada, Masao ^b  

^a NATIONAL CHILDREN S HOSPITAL   (Japan)

^b NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^c NIHON UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANTERIOR EYE SEGMENT; ARTICLE; CASE REPORT; CONGENITAL CATARACT; DNA SEQUENCE; DROSOPHILA; EYE; EYE DEVELOPMENT; EYE MALFORMATION; FEMALE; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; SINGLE STRAND CONFORMATION POLYMORPHISM; SYNDROME;

DROSOPHILA; INVERTEBRATA; VERTEBRATA;

EID: 0034639683     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.3.363     Document Type: Article

References (20)

1. Bonini, N.M., Leiserson, W.M. and Benzer, S. (1993) The eyes absent gene: genetic control of cell survival and differentiation in the developing Drosophila eye. Cell, 72, 379-395.
2. Bonini, N.M., Bui, Q.T., Gray-Board, G.L. and Warrick, J.M. (1997) The Drosophila eyes absent gene directs ectopic eye formation in a pathway conserved between flies and vertebrates. Development, 124, 4819-4826.
3. Abdelhak, S., Kalatzis, V., Heilig, R., Compain, S., Samson, D., Vincent, C., Weil, D., Cruaud, C., Sahly, I., Leibovici, M. et al. (1997) A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family. Nature Genet., 15, 157-164.
4. Abdelhak, S., Kalatzis, V., Heilig, R., Compain, S., Samson, D., Vincent, C., Levi-Acobas, F., Cruaud, C., Le Merrer, M., Mathieu, M. et al. (1997) Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum. Mol. Genet., 13, 2247-2255.
5. Xu, P.X., Cheng, J., Epstein, J.A. and Maas, R.L. (1997) Mouse Eya homologues of the Drosophila eyes absent gene require Pax6 for expression in lens and nasal placode. Development, 124, 219-231.
6. Vincent, C., Kalatzis, V., Abdelhak, S., Chaib, H., Compain, S., Helias, J., Vaneecloo, F.M. and Petit, C. (1997) BOR and BO syndromes are allelic defects of EYA1. Eur. J. Hum. Genet., 5, 242-246.
7. Kumar, S., Kimberling, W.J., Weston, M.D., Schaefer, B.G., Berg, M.A., Marres, H.A. and Cremers, C.W. (1998) Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. Hum. Mutat., 11, 443-449.
8. Xu, P.X., Adams, J., Peters, H., Brown, M.C., Heaney, S. and Maas, R. (1999) Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordial. Nature Genet., 23, 113-117.
9. Preisch, J.W., Bixler, D. and Ellis, F.D. (1985) Gustatory lacrimation in association with the branchio-oto-renal syndrome. Clin Genet., 27, 506-509.
10. Ozanics, V. and Jakobiec, F. A. (1985) Prenatal development of the eye and its adnexa. In Jakobiec, F.A. (ed.). Biomedical Foundations of Ophthalmology. Vol. 1. Ocular Anatomy, Embryology and Teratology. Harper & Row, Philadelphia, PA, pp. 79-81.
11. Duncan, M.K., Kos, L., Jenkins, N.A., Gilbert, D.J., Copeland, N.G. and Tomarev, S.I. (1997) Eyes absent: a gene family found in several metazoan phyla. Mamm. Genome, 8, 479-485.
12. Zimmerman, J.E., Bui, Q.T., Steingrimsson, E., Nagle, D.L., Fu, W., Genin, A., Spinner, N.B., Copeland, N.G., Jenkins, N.A., Bucan, M. and Bonini, N.M. (1997) Cloning and characterization of two vertebrate homologs of the Drosophila eyes absent gene. Genome Res., 7, 128-141.
13. Taylor, D. (1990) Pediatric Ophthalmology. Blackwell Science, Boston, MA, pp. 171-172.
14. Azuma, N., Nishina, S., Yanagisawa, H., Okuyama, T. and Yamada, M. (1996) PAX6 missense mutation in isolated foveal hypoplasia. Nature Genet., 13, 141-142.
15. Yamaguchi, Y., Sawada, J., Yamada, M., Handa, H. and Azuma, N. (1997) Autoregulation of Pax6 transcriptional activation by two distinct DNA-binding subdomains of the paired domain. Genes Cells, 2, 255-261.
16. Azuma, N. and Yamada, M. (1998) Missense mutation at the C-terminus of the PAX6 gene in ocular anterior segment anomalies. Invest. Ophthalmol. Vis. Sci., 39, 828-830.
17. Azuma, N., Hotta, Y., Tanaka, H. and Yamada, M. (1998) Missense mutations in the PAX6 gene in aniridia. Invest. Ophthalmol. Vis. Sci., 39, 2524-2528.
18. Azuma, N., Yamaguchi, Y., Handa, H., Hayakawa, M., Kanai, A. and Yamada, M. (1999) Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. Am. J. Hum. Genet., 65, 656-663.
19. Nagafuchi, S., Yanagisawa, H., Sato, K., Shirayama, T., Ohsaki, E., Bundo, M., Takeda, K., Tadokoro, K., Kondo, I., Maruyama, N. et al. (1994) Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet., 6, 14-18.
20. Yanagisawa, H., Fujii, K., Nagafuchi, S., Nakahori, Y., Nakagome, Y., Akane, A., Nakamura, M., Sano, A., Komure, O., Kondo, I. et al. (1996) A unique origin and multistep process for the generation of expanded DRPLA triplet repeats. Hum. Mol. Genet., 5, 373-389.