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mutant deafwaddler ( dfw ). In the dfw 2J allele, a two-base-pair deletion is
present (Street et al. 1998). This mutation would be predicted to result in
a frame shift and a truncated protein. Northern analysis, however, con-
firmed that this small deletion resulted in the destabilization of the mRNA.
The mechanism whereby mRNAs that encode nonfunctional or truncated
proteins are recognized and degraded by the cell has not been elucidated.
5. Summary
The programmed expression of proteins is required for hearing. This
chapter describes the structure of chromosomes and genes and delineates
how the processes of DNA transcription and RNA translation are required
to form functional proteins. In cases of genetic hearing loss, mutations have
occurred in either transcription or translation of the genes that encode for
proteins crucial for the proper development, structure and function of the
inner ear. By identifying these genes, and defining the mutation in them
that cause deafness, a better understanding of the biology of hearing will
be attained. These studies may one day in the future enable the “correc-
tion” of genetic mutations through gene therapy, or regeneration of hair
cells. New sensory hair cells are not formed postnatally, and during aging
these important cells degenerate. Studies into why and how the inner ear
cells degenerate during “accelerated” hearing loss will likely provide clues
to what happens during the normal aging process.
Acknowledgments. The authors are supported by grants from the NIH/
Fogarty International Center Grant 1 R03 TW01108-01 and the European
Commission (QLG2-CT-1999-00988) (K.B.A.), and the Deafness Research
Foundation (T.H.).
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