EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis.

ABSTRACT:

Background information

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.

Results

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

SUBMITTER: Li Y 

PROVIDER: S-EPMC2825735 | biostudies-literature | 2010 Feb

REPOSITORIES: biostudies-literature