Article
Characterization of new otic enhancers of the pou3f4 gene reveal distinct signaling pathway regulation and spatio-temporal patterns.
PloS one - 31 Dec 2010
Robert-Moreno Àlex, Naranjo Silvia, de la Calle-Mustienes Elisa, Gómez-Skarmeta José Luis, Alsina Berta
Abstract excerpt
POU3F4 is a member of the POU-homedomain transcription factor family with a prominent role in inner ear development. Mutations in the human POU3F4 coding unit leads to X-linked deafness type 3 (DFN3), characterized by conductive hearing loss and progressive sensorineural deafness. Microdeletions found 1 Mb 5' upstream of the coding region also displayed the same phenotype, suggesting that cis-regulatory elements...
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