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An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice

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Lewis, Morag A & Quint, Elizabeth & Glazier, Anne M & Fuchs, Helmut & Hrabé De Angelis, Martin & Langford, Cordelia & van Dongen, Stijn & Abreu Goodger, Cei & Piipari, Matias & Redshaw, Nick & Dalmay, Tamas & Moreno Pelayo, Miguel Angel & Enright, Anton J & Steel, Karen P (2009-05 ) .An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice.

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Lewis, Morag A & Quint, Elizabeth & Glazier, Anne M & Fuchs, Helmut & Hrabé De Angelis, Martin & Langford, Cordelia & van Dongen, Stijn & Abreu Goodger, Cei & Piipari, Matias & Redshaw, Nick & Dalmay, Tamas & Moreno Pelayo, Miguel Angel & Enright, Anton J & Steel, Karen P. 2009-05 .An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice.

https://hdl.handle.net/20.500.12080/39728
dc.contributor.author Lewis, Morag A
dc.contributor.author Quint, Elizabeth
dc.contributor.author Glazier, Anne M
dc.contributor.author Fuchs, Helmut
dc.contributor.author Hrabé De Angelis, Martin
dc.contributor.author Langford, Cordelia
dc.contributor.author van Dongen, Stijn
dc.contributor.author Abreu Goodger, Cei
dc.contributor.author Piipari, Matias
dc.contributor.author Redshaw, Nick
dc.contributor.author Dalmay, Tamas
dc.contributor.author Moreno Pelayo, Miguel Angel
dc.contributor.author Enright, Anton J
dc.contributor.author Steel, Karen P
dc.date.accessioned 2024-02-12T15:03:39Z
dc.date.available 2024-02-12T15:03:39Z
dc.date.created 2009-05
dc.date.issued 2009-05
dc.identifier.uri https://hdl.handle.net/20.500.12080/39728
dc.description.abstract Progressive hearing loss is common in the human population, but little is known about the molecular basis. We report a new ENU-induced mouse mutant, diminuendo, with a single base change in the seed region of Mirn96. Heterozygotes show progressive loss of hearing and hair cell anomalies, while homozygotes have no cochlear responses. Most microRNAs are believed to downregulate target genes by binding to specific sites on their mRNAs, so mutation of the seed should lead to target gene upregulation. Microarray analysis revealed 96 transcripts with significantly altered expression in homozygotes; notably, Slc26a5, oncomodulin, Gfi1, Ptprq and Pitpnm1 were downregulated. Hypergeometric p-value analysis showed hundreds of genes were upregulated in mutants. Different genes, with target sites complementary to the mutant seed, were downregulated. This is the first microRNA found associated with deafness, and diminuendo represents a model for understanding and potentially moderating progressive hair cell degeneration in hearing loss more generally. es_ES
dc.format application/pdf es_ES
dc.language eng es_ES
dc.rights CC-BY es_ES
dc.rights.uri http://creativecommons.org/licenses/by/4.0/deed.es es_ES
dc.title An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice es_ES
dc.type info:eu-repo/semantics/article es_ES
dc.rights.accessrights info:eu-repo/semantics/openAccess es_ES
dc.identifier.location N/A es_ES


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