Functional Studies of "Deafness Genes" Essential for Hearing

National Institute On Deafness And Other Communication Disorders

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Abstract

Projects are being completed on the functions of MYO15 in stereocilia development and long term maintenance. We are also continuing to pursue studies of mouse models of human deafness genes that have been identified in the LMG. At least two of the three major isoforms of TRIOBP (TRIOBP-4 and TRIOBP-5) are necessary for normal hair cell stereocilia rootlet formation and the maintenance of stereocilia rootlets in the adult organ of Corti. Rootlets provide bundle stiffness necessary for the detection of sound. The function of TRIOBP-1, if any, in the auditory system has not been reported and is being examined using an exon 1 of Triobp flexed mouse. TRIOBP also provides stiffness in supporting cells of the organ of Corti. TRIOBP-1 is necessary for embryonic development and may have a role in development of hair cells. To explore that possibility, a conditional knockout of Triobp-1 is being studied as a body-wide ablation of the expression of TRIOBP-1 is lethal during development. Similar strategies will be used to study in mouse the function of genes necessary for hearing in human that are identified from genetic analyses of large families segregating deafness.