ArticlePloS one2011
A mutation in synaptojanin 2 causes progressive hearing loss in the ENU-mutagenised mouse strain Mozart.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses that pooled it.
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Who cites it
23 citing papers in PubMed, 2 syntheses or guidelines pooled it, 45 citations in OpenAlex.
- Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.Communications biology · 2022Pooled it
- Biological insights from multi-omic analysis of 31 genomic risk loci for adult hearing difficulty.PLoS genetics · 2020Pooled it
- The power of five - inositol polyphosphate 5-phosphatase gene mutations at the intersection of development and disease.FEBS letters · 2026Review
- Comprehensive transcriptome and scRNA-seq analyses uncover the expression and underlying mechanism of SYNJ2 in papillary thyroid carcinoma.IET systems biology · 2024Article
- Rare-variant association analysis reveals known and new age-related hearing loss genes.European journal of human genetics : EJHG · 2023Article
- A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens.BMC medicine · 2021Article
- Glucose hypometabolism in the Auditory Pathway in Age Related Hearing Loss in the ADNI cohort.NeuroImage. Clinical · 2021Article
- PTEN and Other PtdIns(3,4,5)PInternational journal of molecular sciences · 2020Review
- Deficiency of SCAMP5 leads to pediatric epilepsy and dysregulation of neurotransmitter release in the brain.Human genetics · 2020Article
- Synaptojanin2 Mutation Causes Progressive High-frequency Hearing Loss in Mice.Frontiers in cellular neuroscience · 2020Article
- GWAS Identifies 44 Independent Associated Genomic Loci for Self-Reported Adult Hearing Difficulty in UK Biobank.American journal of human genetics · 2019Article
- Water Waves to Sound Waves: Using Zebrafish to Explore Hair Cell Biology.Journal of the Association for Research in Otolaryngology : JARO · 2019Review
- Transmission Disrupted: Modeling Auditory Synaptopathy in Zebrafish.Frontiers in cell and developmental biology · 2018Review
- The Synaptojanins in the murine small and large intestine.Journal of bioenergetics and biomembranes · 2016Article
- The structure of phosphoinositide phosphatases: Insights into substrate specificity and catalysis.Biochimica et biophysica acta · 2015Review
- Resistance to noise-induced hearing loss in 129S6 and MOLF mice: identification of independent, overlapping, and interacting chromosomal regions.Journal of the Association for Research in Otolaryngology : JARO · 2014Article
- The Sac domain-containing phosphoinositide phosphatases: structure, function, and disease.Frontiers in biology · 2013Article
- Phosphoinositides: tiny lipids with giant impact on cell regulation.Physiological reviews · 2013Review
- Eeyore: a novel mouse model of hereditary deafness.PloS one · 2013Article
- Phosphoinositides and vesicular membrane traffic.Biochimica et biophysica acta · 2012Review
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHearing impairment is the most common sensory impairment in humans, affecting 1:1,000 births. We have identified an ENU generated mouse mutant, Mozart, with recessively inherited, non-syndromic progressive hearing loss caused by a mutation in the synaptojanin 2 (Synj2), a central regulatory enzyme in the phosphoinositide-signaling cascade. METHODOLOGY/PRINCIPAL
findingsThe hearing loss in Mozart is caused by a p.Asn538Lys mutation in the catalytic domain of the inositol polyphosphate 5-phosphatase synaptojanin 2. Within the cochlea, Synj2 mRNA expression was detected in the inner and outer hair cells but not in the spiral ganglion. Synj2(N538K) mutant protein showed loss of lipid phosphatase activity, and was unable to degrade phosphoinositide signaling molecules. Mutant Mozart mice (Synj2(N538K/N538K)) exhibited progressive hearing loss and showed signs of hair cell degeneration as early as two weeks of age, with fusion of stereocilia followed by complete loss of hair bundles and ultimately loss of hair cells. No changes in vestibular or neurological function, or other clinical or behavioral manifestations were apparent. CONCLUSIONS/SIGNIFICANCE: Phosphoinositides are membrane associated signaling molecules that regulate many cellular processes including cell death, proliferation, actin polymerization and ion channel activity. These results reveal Synj2 as a critical regulator of hair cell survival that is essential for hair cell maintenance and hearing function.
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