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Development 2021 Sep 01;14817:. doi: 10.1242/dev.199684.
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Sobp modulates the transcriptional activation of Six1 target genes and is required during craniofacial development.

Tavares ALP , Jourdeuil K , Neilson KM , Majumdar HD , Moody SA .

Branchio-oto-renal syndrome (BOR) is a disorder characterized by hearing loss, and craniofacial and/or renal defects. Variants in the transcription factor Six1 and its co-factor Eya1, both of which are required for otic development, are linked to BOR. We previously identified Sobp as a potential Six1 co-factor, and SOBP variants in mouse and humans cause otic phenotypes; therefore, we asked whether Sobp interacts with Six1 and thereby may contribute to BOR. Co-immunoprecipitation and immunofluorescence experiments demonstrate that Sobp binds to and colocalizes with Six1 in the cell nucleus. Luciferase assays show that Sobp interferes with the transcriptional activation of Six1+Eya1 target genes. Experiments in Xenopus embryos that either knock down or increase expression of Sobp show that it is required for formation of ectodermal domains at neural plate stages. In addition, altering Sobp levels disrupts otic vesicle development and causes craniofacial cartilage defects. Expression of Xenopus Sobp containing the human variant disrupts the pre-placodal ectoderm similar to full-length Sobp, but other changes are distinct. These results indicate that Sobp modifies Six1 function and is required for vertebrate craniofacial development, and identify Sobp as a potential candidate gene for BOR.

PubMed ID: 34414417
PMC ID: PMC8451943
Article link: Development
Grant support: [+]

Species referenced: Xenopus tropicalis Xenopus laevis
Genes referenced: cdca8 dach1 dlx5 eya1 foxd3 krt12.4 krt12.5 myc pax2 six1 sobp sox2
GO keywords: nucleus [+]
Antibodies: Flag Ab5 HA Ab30 HA Ab31 Myc-Tag Ab18
Morpholinos: sobp MO1
gRNAs referenced: sobp gRNA2

Disease Ontology terms: branchiootorenal syndrome
Phenotypes: Xla Wt + sobp (Fig.4.B) [+]

Article Images: [+] show captions
References [+] :
Ahmed, Eya1-Six1 interaction is sufficient to induce hair cell fate in the cochlea by activating Atoh1 expression in cooperation with Sox2. 2012, Pubmed