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Northwestern researchers map gene mutation that makes mice deaf and causes them to dance

A gene defect that makes some mice appear to be dancing to their own tune has been mapped to a specific gene, according to an article in the Aug. 4 issue of the journal Cell.

A group led by Northwestern University Medical School researcher James R. Bartles mapped the deafness mutation in "jerker" mice to a gene that makes cells produce a protein called espin. The espin protein, which is present in a number of places in the nervous system, is a key component of stereocilia of hair cells, the apparatus in the inner ear that detects sound and motion and helps control balance in the body.

The espin gene mutation Bartles and colleagues found in the jerker mouse causes hair cell degeneration, deafness and vestibular (inner ear) dysfunction.

Jerker mice also exhibit such behaviors as hyperactivity, running in tight circles and head tossing, which are presumed to be the result of defects in the hair cells of the vestibular system.

Bartles believes that in these mice, the mutated espin gene causes vestibular hair cells to send false signals to the brain, in effect telling the animal it is falling or circling in one direction (for example, to the left), when it really isnt. To compensate, the brain tells the mouse to turn in the opposite direction (in this case, to the right).

Interestingly, the mutated form of the espin gene is a single-point mutation, that is, a change of one base in the proteins DNA sequence.

"I personally find it fascinating that this single point mutation in the espin gene can give rise to such pronounced deficits at the behavioral level," Bartles said.

Bartles and his laboratory team discovered espins several years ago, first in intercellular junctions in the testis and later in the kidney and intestine.

"Because espins were originally discovered in these organs, we never would have guessed that these proteins would be so important for the functioning of hair cells in the inner ear," Bartles said.

Bartles and co
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Contact: Stephanie Clemson
s-clemson@northwestern.edu
847-491-4888
Northwestern University
3-Aug-2000


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