Genes Causing Hearing Loss in Waardenburg Syndrome and Target of PAX3

Deafness &Other Communication Disorders

Investigators

Linked publications & trials

Abstract

The goal of this project is to identify the target genes regulated by PAX3. Information obtained from studying PAX3 expression in a mouse model (Splotch) will be used to identify candidate PAX3 target genes. Genes regulated by PAX3 are being identified by WGPCR. Some of these genes are expected to be targets of PAX3 and expressed in the inner ear. Other targets of PAX3 that we identify may be important in understanding alveolar rhabdomyocarcoma since this form of childhood cancer results from a fusion of the DNA binding domain of PAX3 and the carbox-terminus transcription activation domain of the forked-head gene due to a causative translocation event in alveolar rhabdomyocarcoma cancer cells.