ArticleThe Journal of biological chemistry2011
Ectopic mineralization in the middle ear and chronic otitis media with effusion caused by RPL38 deficiency in the Tail-short (Ts) mouse.
Article in The Journal of biological chemistry, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- A Systematic Review of Genes Affecting Endocochlear Potential.Journal of the Association for Research in Otolaryngology : JARO · 2026Pooled it
- Intra-host genomic variation of serologically nontypeableMicrobiology spectrum · 2025Article
- RpL38 modulates germ cell differentiation by controlling Bam expression in Drosophila testis.Science China. Life sciences · 2024Article
- The squiggle tail (squig) mutation in mice is associated with a deletion in the mesenchyme homeobox 1 (Meox1) gene.BMC research notes · 2022Article
- Transcriptome Analyses Provide Insights into the Auditory Function inAnimals : an open access journal from MDPI · 2022Article
- Trans-cortical vessels in the mouse temporal bulla bone are a means to recruit myeloid cells in chronic otitis media and limit peripheral leukogram changes.Frontiers in genetics · 2022Article
- The transcriptional landscape of the cultured murine middle ear epithelium in vitro.Biology open · 2021Article
- Sox9 Determines Translational Capacity During Early Chondrogenic Differentiation of ATDC5 Cells by Regulating Expression of Ribosome Biogenesis Factors and Ribosomal Proteins.Frontiers in cell and developmental biology · 2021Article
- Chronic otitis media is initiated by a bulla cavitation defect in the FBXO11 mouse model.Disease models & mechanisms · 2019Article
- Understanding the aetiology and resolution of chronic otitis media from animal and human studies.Disease models & mechanisms · 2017Review
- Panel 3: Genetics and Precision Medicine of Otitis Media.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2017Review
- Ectodysplasin signalling deficiency in mouse models of hypohidrotic ectodermal dysplasia leads to middle ear and nasal pathology.Human molecular genetics · 2016Article
- Ectopic Mineralization and Conductive Hearing Loss in Enpp1asj Mutant Mice, a New Model for Otitis Media and Tympanosclerosis.PloS one · 2016Article
- Increased susceptibility to otitis media in a Splunc1-deficient mouse model.Disease models & mechanisms · 2015Article
- A defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 Deletion Syndrome.Human molecular genetics · 2015Article
- What have we learned from murine models of otitis media?Current allergy and asthma reports · 2013Review
- Panel 4: Recent advances in otitis media in molecular biology, biochemistry, genetics, and animal models.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2013Review
- Pathological features in the LmnaDhe/+ mutant mouse provide a novel model of human otitis media and laminopathies.The American journal of pathology · 2012Article
- Cardiomyopathy is associated with ribosomal protein gene haplo-insufficiency in Drosophila melanogaster.Genetics · 2011Article
- Exome sequencing identifies a missense mutation in Isl1 associated with low penetrance otitis media in dearisch mice.Genome biology · 2011Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Inflammation of the middle ear cavity (otitis media) and the abnormal deposition of bone at the otic capsule are common causes of conductive hearing impairment in children and adults. Although a host of environmental factors can contribute to these conditions, a genetic predisposition has an important role as well. Here, we analyze the Tail-short (Ts) mouse, which harbors a spontaneous semi-dominant mutation that causes skeletal defects and hearing loss. By genetic means, we show that the Ts phenotypes arise from an 18-kb deletion/insertion of the Rpl38 gene, encoding a ribosomal protein of the large subunit. We show that Ts mutants exhibit significantly elevated auditory-brain stem response thresholds and reduced distortion-product otoacoustic emissions, in the presence of normal endocochlear potentials and typical inner ear histology suggestive of a conductive hearing impairment. We locate the cause of the hearing impairment to the middle ear, demonstrating over-ossification at the round window ridge, ectopic deposition of cholesterol crystals in the middle ear cavity, enlarged Eustachian tube, and chronic otitis media with effusion all beginning at around 3 weeks after birth. Using specific antisera, we demonstrate that Rpl38 is an ∼8-kDa protein that is predominantly expressed in mature erythrocytes. Finally, using an Rpl38 cDNA transgene, we rescue the Ts phenotypes. Together, these data present a previously uncharacterized combination of interrelated middle ear pathologies and suggest Rpl38 deficiency as a model to dissect the causative relationships between neo-ossification, cholesterol crystal deposition, and Eustachian tubes in the etiology of otitis media.
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