A genomic region encompassing a newly identified exon provides enhancing activity sufficient for normal myo7aa expression in zebrafish sensory hair cells

摘要: MYO7A is an unconventional myosin involved in the structural organization of hair bundles at apex sensory cells (SHCs) where it serves mechanotransduction process hearing and balance. Mutations are responsible for abnormal shaping bundles, resulting human deafness murine deafness/circling behavior. Myo7aa, expressed SHCs inner ear lateral line zebrafish, causes circling behavior cell function when deficient mariner mutant. This work identifies a new cell-specific enhancer, highly conserved between species, located within Intron 2-3 zebrafish 7a (myo7aa) gene. enhancer contained 761-bp DNA fragment that encompasses newly identified Exon myo7aa whose activity does not depend on orientation. Compensation mutation by expression mCherry-Myo7aa fusion protein under control this results recovery balance, normal bundle shape restored function. Two smaller adjacent fragments (344-bp 431-bp), extracted from fragment, both show enhancing activity, with apparently reduced intensity coverage. These data should help understand role Myo7aa differentiation They provide tools to decipher how gene regulated allowing identification potential transcription factors process. The discovered could represent target deafness-causing mutations affecting MYO7A.