Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
XB-ART-50871
Comp Biochem Physiol C Toxicol Pharmacol 2015 Dec 01;178:16-24. doi: 10.1016/j.cbpc.2015.06.007.
Show Gene links Show Anatomy links

Using Xenopus to discover new genes involved in branchiootorenal spectrum disorders.



???displayArticle.abstract???
Congenital hearing loss is an important clinical problem because, without early intervention, affected children do not properly acquire language and consequently have difficulties developing social skills. Although most newborns in the US are screened for hearing deficits, even earlier diagnosis can be made with prenatal genetic screening. Genetic screening that identifies the relevant mutated gene can also warn about potential congenital defects in organs not related to hearing. We will discuss efforts to identify new candidate genes that underlie the Branchiootorenal spectrum disorders in which affected children have hearing deficits and are also at risk for kidney defects. Mutations in two genes, SIX1 and EYA1, have been identified in about half of the patients tested. To uncover new candidate genes, we have used the aquatic animal model, Xenopus laevis, to identify genes that are part of the developmental genetic pathway of Six1 during otic and kidney development. We have already identified a large number of potential Six1 transcriptional targets and candidate co-factor proteins that are expressed at the right time and in the correct tissues to interact with Six1 during development. We discuss the advantages of using this system for gene discovery in a human congenital hearing loss syndrome.

???displayArticle.pubmedLink??? 26117063
???displayArticle.pmcLink??? PMC4662879
???displayArticle.link??? Comp Biochem Physiol C Toxicol Pharmacol
???displayArticle.grants??? [+]

Species referenced: Xenopus laevis
Genes referenced: eya1 six1

References [+] :
Andersen, Drosophila MCRS2 associates with RNA polymerase II complexes to regulate transcription. 2010, Pubmed