Human Gene Discovery for Understanding Development of the Inner Ear and Hearing Loss

Yoni Bhonker*, Kathy Ushakov, Karen B. Avraham

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

2 Scopus citations


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 languageEnglish
Title of host publicationDevelopment of Auditory and Vestibular Systems
Subtitle of host publicationFourth Edition
PublisherElsevier Inc.
Number of pages21
ISBN (Electronic)9780124081086
ISBN (Print)9780124080881
StatePublished - 2 Jun 2014


FundersFunder number
I-CORE Gene Regulation in Complex Human Disease Center41/11
TEVA Pre-doctoral Neuroscience Scholarship
National Institutes of Health
National Institute on Deafness and Other Communication DisordersR01DC011835
Israel Science Foundation1320/11, RGP0012/2012


    • Deafness
    • Hair cells
    • High throughput sequencing
    • Mice
    • Mutations


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