Abstract
Human genetics has provided a wealth of information regarding the mechanisms and pathology of hearing loss. Mutations in almost 100 genes have been implicated in hereditary hearing loss found in families worldwide. Genomic tools, including high throughput sequencing, have accelerated the pace of gene discovery. The identification of these genes, and the subsequent study of the proteins they encode, has led to elucidation of mechanisms leading to hearing impairment. Many of the genes, including those encoding transcription factors and microRNAs, are expressed during the development of the inner ear. The proteins, including some forming structural components, are essential in the morphogenesis and differentiation of hair cells and other inner ear structures. Due to the limitations in accessing human experimental material, mouse models for human deafness have played a key role in determining the function of the proteins and functional pathways in the mammalian inner ear.
Original language | English |
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Title of host publication | Development of Auditory and Vestibular Systems |
Subtitle of host publication | Fourth Edition |
Publisher | Elsevier Inc. |
Pages | 107-127 |
Number of pages | 21 |
ISBN (Electronic) | 9780124081086 |
ISBN (Print) | 9780124080881 |
DOIs | |
State | Published - 2 Jun 2014 |
Keywords
- Deafness
- Hair cells
- High throughput sequencing
- Mice
- Mutations
All Science Journal Classification (ASJC) codes
- General Medicine
- General Neuroscience