miRNA mutations are not a common cause of deafness
Open accessAbstract
Mutations in miRNA genes have been implicated in hearing loss in human families and mice. It is also possible that mutations in miRNA binding sites of inner ear targets alter gene expression levels and lead to hearing loss. To investigate these possibilities we screened predicted target genes of the miR‐183 miRNA cluster known to be expressed in the inner ear sensory epithelium. In one Iranian family segregating autosomal recessive non‐syndromic hearing loss (ARNSHL), we identified a homozygous variant in a predicted miR‐96/182 binding site in the 3′UTR of the RDX (DFNB24) gene. However, in vitro functional studies showed that this site is not a functional target for miR‐96/182. We extended our study to include the miR‐183 genes themselves and 24 additional predicted target genes of the miRNA‐183 cluster. Screening these miRNAs and target sequences in numerous families segregating either autosomal dominant non‐syndromic deafness (ADNSHL) or ARNSHL did not identify any potential deafness‐causing mutations. These results suggest that mutations disrupting gene regulation by the miR‐183 cluster are not a common cause of human hearing loss. © 2010 Wiley‐Liss, Inc.
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Mutations within miR-96 are not a common cause of deafness.
“Even though mutations within miR-96 are not a common cause of deafness, as evidenced by this and previous works (14,17), the description of novel causative variants might help in elucidating the pathogenic mechanisms underlying the DFNA50-associated phenotype.”
From A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing (2012) · cites this paper as [17]
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Ray, M., Rath, S. N., Sarkar, S., & Sable, M. (2022) · Genomics & Informatics · doi:10.5808/gi.21070
- Authors
- Hildebrand, M. S., Witmer, P. D., Xu, S., Newton, S. S., Kahrizi, K., Najmabadi, H., Valle, D., & Smith, R. J. H.
- Affiliations
- University of Iowa (US)
- Johns Hopkins University (US)
- Rush University Medical Center (US)
- University of Social Welfare and Rehabilitation Sciences (IR)
- Corresponding author
- Smith, Richard J.H.
- ORCID
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2010-02-22
- Volume
- 152A
- Issue
- 3
- Pages
- 646-652
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- PMC
- PMC2830307
- OpenAlex
- W1977029764
- Cited by
- 14
- References
- 19
- Citations by year
- 2023: 1 · 2022: 1 · 2017: 1 · 2016: 2 · 2014: 1 · 2013: 1 · 2012: 2
- FWCI
- 1.45
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute on Deafness and Other Communication Disorders (R01DC003544, R01DC02842, R01DC03544, R01DC002842)
- Topics
- Life Sciences › Neuroscience › Sensory Systems › Hearing, Cochlea, Tinnitus, Genetics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › MicroRNA in disease regulation
- Health Sciences › Medicine › Genetics › Congenital Ear and Nasal Anomalies
- Keywords
- non-syndromic hearing loss, deafness, microRNA binding sites, 3' untranslated region, miRNA target genes, gene expression regulation
- MeSH terms
- Animals, Base Sequence, Binding Sites, Cytoskeletal Proteins, Deafness, Female, Genes, Dominant, Genes, Recessive, Multigene Family, Homozygote, Humans, Male, Membrane Proteins, Mutation, Pedigree, Sequence Homology, Nucleic Acid, DNA Primers, 3' Untranslated Regions, MicroRNAs, Mice
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