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The utricles were then treated with a gamma-secretase inhibitor, followed by espin or control transduction and histochemistry. Although gamma-secretase inhibition increased the number of HCs (show HLCS Proteins), few had stereociliary arrays. In contrast, 46 h after espin1 transduction, a significant increase in hair-bundle-like structures was observed
The espin actin-filament-binding site has a major effect on the formation and dynamics of actin bundles.
human deafness and vestibular dysfunction co-segregated with either of two frameshift mutations in ESPN.
The results further strengthen the causative role of the espin gene in non-syndromic hearing loss and add new insights into espin structure and function.
Here, we report a new activity of the espins, one that depends on their enigmatic WH2 domain: the ability to assemble a large actin bundle when targeted to a specific subcellular location.
A recessive ESPN mutation causing congenital hearing loss in a Morocan family was reported.
Flies with mutations affecting the diaphanous,forked, and CG12026/TMHS (show LHFPL5 Proteins) genes displayed significant reductions in the amplitude of sound-evoked potentials compared to wild-type flies
We demonstrated for the first time that espin regulates both anchorage-dependent growth and anchorage-independent growth in melanoma cells through G1 arrest and modulates the expression and/or activity of p21Cip1 (show CDKN1A Proteins), p27Kip1 (show CDKN1B Proteins), Erk (show EPHB2 Proteins), and Akt (show AKT1 Proteins).
When myosin IIIB (MYO3B (show MYO3B Proteins)) is coexpressed with espin-1 (ESPN1), MYO3B (show MYO3B Proteins) targets and carries ESPN1 to COS7 cell filopodia tips. This tip localization is lost when the ESPN1 C terminus actin-binding site is removed.
espin actin-bundling proteins are required for the assembly and stabilization of the stereociliary parallel actin bundle.
Genetic and physical maps of jerker (Espn(je)) on mouse chromosome 4
Data show that espin actin-bundling proteins, which are the target of the jerker deafness mutation, caused a dramatic, concentration-dependent lengthening of LLC-PK1-CL4 cell microvilli and their parallel actin bundles.
This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement.
, autosomal recessive deafness type 36 protein
, ectoplasmic specialization protein
, actin cytoskeletal regulatory protein
, Jerker, deafness locus