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Book synopsis

The prevalence of severe to profound bilateral§congenital hearing loss is estimated at 1 in 1000§births, at least half of which can be attributed to a§genetic cause. As of 2005, mutations in at least 67§genes have been associated with hearing loss.§Discovery of these genes has revealed fundamental§processes within the ear, and enabled diagnosis and§implementation of genetic counseling in affected§patients. As a part of the continuing effort to study§genes important for hearing and deafness, this thesis§reports the identification and characterization of a§novel cochlear transcript with predominantly fetal§expression (PFET1/KCTD12) from the Morton fetal§cochlear cDNA library. KCTD12/Kctd12 is an§evolutionarily conserved intronless gene encoding a 6§kb transcript in human and three transcripts of§approximately 4, 4.5 and 6 kb in mouse. The protein,§pfetin, is predicted to contain a voltage-gated§potassium channel tetramerization (T1) domain.§Experimental data from tissue and cellular expression§profiling, and genetic and functional analysis§suggests KCTD12 and its orthologs playing a crucial§role in the developmental of the auditory sense organ.

Book details

Book category Books in English Mathematics & science Biology, life sciences Life sciences: general issues

• Full title: Characterization of KCTD12/PFET1
• Author: Sharon F. Kuo
• Language: English
• Binding: Paperback
• Number of pages: 112
• EAN: 9783639104288
• ISBN: 3639104285
• ID: 06819405
• Publisher: VDM Verlag
• Weight: 177 g
• Dimensions: 229 × 152 × 7 mm
• Date of publishing: 20. March 2009

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