A role of the double-stranded RNA-binding protein PACT in mouse ear development and hearing.
To determine the physiological functions of the mammalian double-stranded RNA-binding protein PACT, the single-copy mouse Pact gene was disrupted and expression of the protein was completely ablated. The most notable phenotypes of the Pact(-/-) mouse were reduced size and severe microtia. As a result of the congenital abnormality of both outer and middle ears, these mice were hearing impaired. In situ hybridization revealed that PACT mRNA was expressed in specific regions of all three parts of the ear in adult and embryonic wild-type mice. Our study demonstrated an essential role of PACT in mammalian ear development and produced the first animal model for studying human microtia.
Rowe
Theresa M
TM
Departments of Molecular Genetics, Cleveland Clinic Foundation, Cleveland, OH 44195, USA.
Rizzi
Mark
M
Hirose
Keiko
K
Peters
Gregory A
GA
Sen
Ganes C
GC
D000818:Animals; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics / Q000502:physiology*; D003001:Cloning, Molecular; D017931:DNA Primers; D004423:Ear / Q000254:growth & development*; D005347:Fibroblasts / Q000502:physiology; D006309:Hearing / Q000502:physiology*; D051379:Mice; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000235:genetics
D002352:Carrier Proteins; D017931:DNA Primers; D012333:RNA, Messenger; C491290:Rbbp6 protein, mouse