Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia - Nature Genetics
- ️Maas, Richard
- ️Wed Sep 01 1999
References
Abdelhak, S. et al. 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 (1997).
Abdelhak, S. et al. Clustering of mutations reponsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum. Mol. Genet. 6, 2247–2255 (1997).
Kumar, S., Marres, H.A.M., Cremers, C.W.R.J. & Kimberling, W.J. Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. Hum. Mutat. 11, 443–449 (1998).
Vincent, C. et al. BOR and BO syndromes are allelic defects of EYA1. Eur. J. Hum. Genet. 5, 242–246 (1997).
Durbec, P. et al. GDNF signalling through the Ret receptor tyrosine kinase. Nature 381, 789–793 (1996).
Vega, Q.C., Worby, C.A., Lechner, M.S., Dixon, J. & Dressler, G.R. Glial cell-derived neurotrophic factor activates the receptor tyrosine kinase RET and promotes kidney morphogenesis. Proc. Natl Acad. Sci. USA 93, 10657–10661 (1996).
Sanicola, M. et al. Glial cell line-derived neurotrophic factor-dependent RET activation can be mediated by two different cell-surface accessory proteins. Proc. Natl Acad. Sci. USA 94, 6238–6243 (1997).
Trupp, M. et al. Functional receptor for GDNF encoded by the c-ret proto-oncogene. Nature 381, 785–789 (1996).
Xu, P.-X., Woo, I., Her, H., Beier, D. & Maas, R.L. Mouse homologues of the Drosophila eyes absent gene require Pax6 for expression in lens and nasal placodes. Development 124, 219–231 (1997).
Pignoni, F. et al. The eye-specification proteins So and Eya form a complex and regulate multiple steps in Drosophila eye development. Cell 91, 881–891 (1997).
Halder, G. et al. Eyeless initiates the expression of both sine oculis and eyes absent during Drosophila compound eye development. Development 125, 2181–2191 (1998).
Torres, M., Gomez-Pardo, E. & Gruss, P. Pax2 contributes to inner ear patterning and optic nerve trajectory. Development 121, 4057–4065 (1996).
Borycki, A.G., Li, J., Jin, F., Emerson, C.P. & Epstein, J.A. Pax3 functions in cell survival and in pax7 regulation. Development 126, 1665–1674 (1999).
Oliver, G. et al. Homeobox genes and connective tissue patterning. Development 121, 693–705 (1995).
Mansour, S.L., Goddard, J.M. & Capecchi, M.R. Mice homozygous for a targeted disruption of the proto-oncogene int-2 have developmental defects in the tails and inner ear. Development 117, 13–28 (1993).
Wilkinson, D.G., Peters, G., Dickson, C. & McMahon, A.P. Expression pattern of the fgf-related proto-oncogene int-2 suggests multiple roles in fetal development. Development 105, 131–136 (1989).
Fraser, F.C., Sproule, J.R. & Halal, F. Frequency of the branchio-to-renal syndrome in children with profound hearing loss. Am. J. Med. Genet. 7, 341–349 (1980).
Chen, A. et al. Phenotypic manifestations of branchiootorenal syndrome. Am. J. Med. Genet. 58, 365–370 (1995).
Heimler, A. & Lieber, E. Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred. Am. J. Med. Genet. 25, 15–27 (1986).
König, R., Fuchs, S. & Dukiet, C. Branchio-oto-renal (BOR) syndrome: variable expressivity in a five generation pedigree. Eur. J. Pediatr. 153, 446–450 (1994).
Keller, S.A. et al. Kidney and retinal defects (Krd), a transgene-induced mutation with a deletion of mouse chromosome 19 that includes the Pax2 locus. Genomics 23, 309–320 (1994).
Sanyanusin, P. et al. Mutation of Pax2 gene in a family with optic nerve colobomas, renal anormalies and vesiculoureteral reflux. Nature Genet. 9, 358–363 (1995).
Torres, M., Gomez-Pardo, E., Dressler, G.R. & Gruss, P. Pax2 controls multiple steps of urogenital development. Development 121, 4057–4065 (1995).
Favor, J. et al. The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney. Proc. Natl Acad. Sci. USA 93, 13870–13875 (1996).
Dressler, G.R., Deutsch, U., Chowdhury, K., Nornes, H.O. & Gruss, P. Pax2, a new murine paired-box-containing gene and its expression in the developing excretory system. Development 109, 787–795 (1990).
Peters, H., Neubuser, A., Kratochwil, K. & Balling, R. Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities. Genes Dev. 12, 2735–2747 (1998).
Kreidberg, J.A. et al. WT-1 is required for early kidney development. Cell 74, 679–691 (1993).
Pachnis, V., Mankoo, B. & Costantini, F. Expression of the c-ret proto-oncogene during mouse embryogenesis. Development 119, 1005–1017 (1993).
Schuchardt, A., D'Agati, V., Larsson, L., Constantini, F. & Pachnis, V. Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor ret. Nature 367, 380–383 (1994).
Johnson, K.R. et al. Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome. Hum. Mol. Genet. 8, 645–653 (1999).