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Human Molecular Genetics, 2000, Vol. 9, No. 12 1729-1738
© 2000 Oxford University Press

The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells

David W. Anderson1,+, Frank J. Probst3,+, Inna A. Belyantseva6,+, Robert A. Fridell1,§, Lisa Beyer4, Donna M. Martin5, Doris Wu2, Bechara Kachar6, Thomas B. Friedman1, Yehoash Raphael4 and Sally A. Camper,3,¶

1Laboratory of Molecular Genetics and 2Laboratory of Cell Biology, NIDCD, Rockville, MD 20850, USA, 3Department of Human Genetics, 4Department of Otolaryngology and 5Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109-0638, USA and 6Laboratory of Cellular Biology, NIDCD, Bethesda, MD 20892, USA

Recessive mutations in myosin 15, a class XV unconventional myosin, cause profound congenital deafness in humans and both deafness and vestibular dysfunction in mice homozygous for the shaker 2 and shaker 2J alleles. The shaker 2 allele is a previously described missense mutation of a highly conserved residue in the motor domain of myosin XV. The shaker 2J lesion, in contrast, is a 14.7 kb deletion that removes the last six exons from the 3"-terminus of the Myo15 transcript. These exons encode a FERM (F, ezrin, radixin and moesin) domain that may interact with integral membrane proteins. Despite the deletion of six exons, Myo15 mRNA transcripts and protein are present in the post-natal day 1 shaker 2J inner ear, which suggests that the FERM domain is critical for the development of normal hearing and balance. Myo15 transcripts are first detectable at embryonic day 13.5 in wild-type mice. Myo15 transcripts in the mouse inner ear are restricted to the sensory epithelium of the developing cristae ampularis, macula utriculi and macula sacculi of the vestibular system as well as to the developing organ of Corti. Both the shaker 2 and shaker 2J alleles result in abnormally short hair cell stereocilia in the cochlear and vestibular systems. This suggests that Myo15 may be important for both the structure and function of these sensory epithelia.

+ These authors contributed equally to this work

§ Present address: Virology, Department 106, Bristol-Myers Squibb, 5 Research Parkway, Wallingford, CT 06492, USA

To whom correspondence should be addressed at: Department of Human Genetics, 4301 MSRB III, 1150 West Medical Center Drive, University of Michigan, Ann Arbor, MI 48109-0638, USA. Tel: +1 734 763 0682; Fax: +1 734 763 7672; Email: scamper@umich.edu


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