ArticleHuman molecular genetics2008
Eya1 gene dosage critically affects the development of sensory epithelia in the mammalian inner ear.
Article in Human molecular genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 1 of them a synthesis that pooled it.
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Who cites it
63 citing papers in PubMed, 1 synthesis or guideline pooled it, 102 citations in OpenAlex.
- Genome-wide analysis implicates inner ear development in Ménière disease.American journal of human genetics · 2026Pooled it
- Clinical and Genetic Features inDiagnostics (Basel, Switzerland) · 2026Article
- Branchio-oto-renal syndrome: a narrative review.Childhood kidney diseases · 2026Review
- Genome-wide analysis implicates inner ear development in Ménière's disease.medRxiv : the preprint server for health sciences · 2026Article
- The first case of Branchio-oto-renal (BOR) syndrome caused by a deep intronic variant in EYA1.Molecular genetics and genomics : MGG · 2025Article
- A Novel EYA1 Splicing Mutation in a Chinese Family With Branchio-Oto Syndrome: A Functional Analysis and Reproductive Intervention.Clinical and experimental otorhinolaryngology · 2025Article
- Comparative genomics sheds light on mammalian and avian gene regulation and phenotypic evolution.Nature communications · 2025Article
- Direct reprogramming of fibroblasts into spiral ganglion neurons by defined transcription factors.Cell proliferation · 2025Article
- Targets of the transcription factor Six1 identify previously unreported candidate deafness genes.Development (Cambridge, England) · 2025Article
- Evolutionary analysis of genes associated with the sense of balance in semi-aquatic mammals.BMC ecology and evolution · 2025Article
- Protein phosphatase EYA1 regulates the dephosphorylation and turnover of BCL2L12 to promote glioma development.International journal of biological sciences · 2025Article
- Shared features in ear and kidney development - implications for oto-renal syndromes.Disease models & mechanisms · 2024Article
- SoxC transcription factors shape the epigenetic landscape to establish competence for sensory differentiation in the mammalian organ of Corti.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Development and evolution of the vestibular apparatuses of the inner ear.Journal of anatomy · 2021Review
- The Eyes Absent proteins in development and in developmental disorders.Biochemical Society transactions · 2021Review
- Chromatin remodelers and lineage-specific factors interact to target enhancers to establish proneurosensory fate within otic ectoderm.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Otic Neurogenesis inFrontiers in neuroanatomy · 2021Article
- FOXF2 is required for cochlear development in humans and mice.Human molecular genetics · 2019Article
- The first case of NSHL by direct impression onIranian journal of basic medical sciences · 2018Article
- Gene, cell, and organ multiplication drives inner ear evolution.Developmental biology · 2017Review
3 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
Haploinsufficiency of the transcription co-activator EYA1 causes branchio-oto-renal syndrome, congenital birth defects that account for as many as 2% of profoundly deaf children; however, the underlying cause for its dosage requirement and its specific role in sensory cell development of the inner ear are unknown. Here, an allelic series of Eya1 were generated to study the basis of Eya1 dosage requirements for sensory organ development. Our results show different threshold requirements for the level of Eya1 in different regions of the inner ear. Short and disorganized hair cell sterocilia was observed in wild-type/null heterozygous or hypomorphic/hypomorphic homozygous cochleae. Patterning and gene-marker analyses indicate that in Eya1 hypomorphic/null heterozygous mice, a reduction of Eya1 expression to 21% of normal level causes an absence of cochlear and vestibular sensory formation. Eya1 is initially expressed in the progenitors throughout the epithelium of all six sensory regions, and later on during sensory cell differentiation, its expression becomes restricted to the differentiating hair cells. We provide genetic evidence that Eya1 activity, in a concentration-dependent manner, plays a key role in the regulation of genes known to be important for sensory development. Furthermore, we show that Eya1 co-localizes with Sox2 in the sensory progenitors and both proteins physically interact. Together, our results indicate that Eya1 appears to be upstream of very early events during the sensory organ development, hair cell differentiation and inner-ear patterning. These results also provide a molecular mechanism for understanding how hypomorphic levels of EYA1 cause inner-ear defects in humans.
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Registered trials
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