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XB-ART-40756
Biol Cell February 17, 2010; 102 (5): 277-92.
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EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis.

Li Y , Manaligod JM , Weeks DL .


Abstract
The BOR (branchio-oto-renal) syndrome is a dominant disorder most commonly caused by mutations in the EYA1 (Eyes Absent 1) gene. Symptoms commonly include deafness and renal anomalies.We have used the embryos of the frog Xenopus laevis as an animal model for early ear development to examine the effects of different EYA1 mutations. Four eya1 mRNAs encoding proteins correlated with congenital anomalies in human were injected into early stage embryos. We show that the expression of mutations associated with BOR, even in the presence of normal levels of endogenous eya1 mRNA, leads to morphologically abnormal ear development as measured by overall otic vesicle size, establishment of sensory tissue and otic innervation. The molecular consequences of mutant eya1 expression were assessed by QPCR (quantitative PCR) analysis and in situ hybridization. Embryos expressing mutant eya1 showed altered levels of multiple genes (six1, dach, neuroD, ngnr-1 and nt3) important for normal ear development.These studies lend support to the hypothesis that dominant-negative effects of EYA1 mutations may have a role in the pathogenesis of BOR.

PubMed ID: 19951260
PMC ID: PMC2825735
Article link: Biol Cell
Grant support: [+]

Species referenced: Xenopus laevis
Genes referenced: actl6a cdca8 dach1 eya1 mcf2l.2 neurod1 neurog2 ntf3 six1
GO keywords: ear development

Disease Ontology terms: branchiootorenal syndrome
OMIMs: BRANCHIOOTORENAL SYNDROME 1; BOR1

Article Images: [+] show captions
References [+] :
Abdelhak, A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. 1997, Pubmed