Article
A novel allele of myosin VIIa reveals a critical function for the C-terminal FERM domain for melanosome transport in retinal pigment epithelial cells.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 16 Dec 2009
Schwander Martin, Lopes Vanda, Sczaniecka Anna, Gibbs Daniel, Lillo Concepcion, Delano David, Tarantino Lisa M, Wiltshire Tim, Williams David S, Müller Ulrich
Abstract excerpt
Mutations in the head and tail domains of the motor protein myosin VIIA (MYO7A) cause deaf-blindness (Usher syndrome type 1B, USH1B) and nonsyndromic deafness (DFNB2, DFNA11). The head domain binds to F-actin and serves as the MYO7A motor domain, but little is known about the function of the tail domain. In a genetic screen, we have identified polka mice, which carry a mutation (c.5742 + 5G > A) that affects...
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