Journal article
miRNA Mutations are Not a Common Cause of Deafness
American journal of medical genetics. Part A, Vol.152A(3), pp.646-652
03/2010
DOI: 10.1002/ajmg.a.33299
PMCID: PMC2830307
PMID: 20186779
Abstract
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 family 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 family. 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 family are not a common cause of human hearing loss.
Details
- Title: Subtitle
- miRNA Mutations are Not a Common Cause of Deafness
- Creators
- Michael S Hildebrand - Department of Otolaryngology - Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USAP. Dane Witmer - McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USAShunbin Xu - Department of Ophthalmology and Neurological Sciences, Rush University Medical Center, Chicago, Illinois 60302Stephen S Newton - Department of Otolaryngology - Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USAKimia Kahrizi - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IranHossein Najmabadi - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IranDavid Valle - McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USARichard J.H Smith - Department of Otolaryngology - Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics. Part A, Vol.152A(3), pp.646-652
- DOI
- 10.1002/ajmg.a.33299
- PMID
- 20186779
- PMCID
- PMC2830307
- NLM abbreviation
- Am J Med Genet A
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- Language
- English
- Date published
- 03/2010
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984006425302771