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Viewing report
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Characterization of KCTD12/PFET1. Edition No. 1
VDM Publishing House, March 2009, Pages: 112
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.
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