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J Exp Zool B Mol Dev Evol 2024 May 01;3423:212-240. doi: 10.1002/jez.b.23222.
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Using Xenopus to discover new candidate genes involved in BOR and other congenital hearing loss syndromes.

Neal SJ , Rajasekaran A , Jusić N , Taylor L , Read M , Alfandari D , Pignoni F , Moody SA .

Hearing in infants is essential for brain development, acquisition of verbal language skills, and development of social interactions. Therefore, it is important to diagnose hearing loss soon after birth so that interventions can be provided as early as possible. Most newborns in the United States are screened for hearing deficits and commercially available next-generation sequencing hearing loss panels often can identify the causative gene, which may also identify congenital defects in other organs. One of the most prevalent autosomal dominant congenital hearing loss syndromes is branchio-oto-renal syndrome (BOR), which also presents with defects in craniofacial structures and the kidney. Currently, mutations in three genes, SIX1, SIX5, and EYA1, are known to be causative in about half of the BOR patients that have been tested. To uncover new candidate genes that could be added to congenital hearing loss genetic screens, we have combined the power of Drosophila mutants and protein biochemical assays with the embryological advantages of Xenopus, a key aquatic animal model with a high level of genomic similarity to human, to identify potential Six1 transcriptional targets and interacting proteins that play a role during otic development. We review our transcriptomic, yeast 2-hybrid, and proteomic approaches that have revealed a large number of new candidates. We also discuss how we have begun to identify how Six1 and co-factors interact to direct developmental events necessary for normal otic development.

PubMed ID: 37830236
PMC ID: PMC11014897
Article link: J Exp Zool B Mol Dev Evol
Grant support: [+]

Species referenced: Xenopus tropicalis Xenopus laevis
Genes referenced: anxa6 atoh1 c1qbp dach1 eya1 eya2 eya3 eya4 foxg1 foxl1 get1 hes4 hes5.4 hey1 hey2 id2 irx1 kcne5 kdm6b kpnb1 krt7 mcrs1 neurog1 pax2 pax3 pax6 pax8 pigy prox1 prss1 rai14 ralbp1 shh six1 six2 six3 six4 six6 sobp sox2 tbx1 tbx5 tle2 tle4 usp1 XB5850668 zmym2 zmym4
GO keywords: brain development [+]

Disease Ontology terms: branchiootic syndrome [+]

Article Images: [+] show captions
References [+] :
Abdelhak, Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. 1997, Pubmed