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James R.
Bartles
Rank: Professor
Research area: Espin actin-bundling proteins, hair cell
stereocilia, the actin cytoskeleton of sensory and neuronal cells
Degree: Ph.D., Washington
University
Voice: 312.503.1545
Fax: 312.503.7912
e-mail: j-bartles@northwestern.edu
Detailed research
description:
The research in my lab is
centered on the “espins,” a novel family of actin-bundling
proteins, and the elucidation of their roles in the stereocilia of
sensory hair cells in the inner ear. Espins are produced in multiple
isoforms from a single gene. They are present at high concentration in
the parallel actin bundle scaffold at the core of hair cell stereocilia
and are the target of deafness mutations in mice and humans. For example,
the jerker mutation in the mouse espin gene causes recessive hereditary
deafness and vestibular dysfunction and results in malformed hair cell
stereocilia, which are abnormally short and thin. Beyond hair cell
stereocilia, espins are present at high concentration in the
microvillus-based specializations of other sensory cells (taste receptor
cells, solitary chemoreceptor cells, vomeronasal sensory neurons and
Merkel cells) and in the dendritic spines of cerebellar Purkinje cells,
suggesting that the proteins also play important roles in the F-actin-rich
specializations of other sensory and neuronal cells. Espins show no
obvious sequence similarities to other confirmed actin-bundling proteins,
but show limited sequence homology to the forked proteins of Drosophila.
Espins differ from most other actin-bundling proteins in that they bind
F-actin with high affinity, exert a potent cooperative effect on the
twist of actin filaments in parallel actin bundles, and are not inhibited
by Ca2+. In cells, espins bring about the elongation of
parallel actin bundles and, thereby, help to determine the steady-state
length of structures like stereocilia and microvilli. In fact,
heterologous expression of espins in epithelial cell lines causes a
dramatic elongation of microvilli to produce stereocilium facsimiles
suitable for reconstitution studies. Espins also bind actin monomer via
their Wiskott-Aldrich Syndrome protein homology 2 (WH2) domain and can
assemble actin bundles in cells. Certain espin isoforms can also bind
phosphatidylinositol 4,5-bisphosphate, profilins or SH3 proteins. This
constellation of biological activities may make espins especially
well-suited for regulating the actin cytoskeleton in sensory and neuronal
cells.
Representative
publications:
Zheng, L., G.
Sekerková G, K. Vranich, L.G. Tilney, E. Mugnaini and, J.R.
Bartles (2000) The deaf jerker mouse has a mutation in the gene
encoding the espin actin-bundling proteins of hair cell stereocilia and
lacks espins. Cell 102, 377-385.
Loomis, P.A., L. Zheng, G.
Sekerková, B. Changyaleket, E. Mugnaini,
and J.R. Bartles (2003) Espin cross-links cause the elongation of
microvillus-type parallel actin bundles in vivo. J. Cell Biol. 163, 1045-1055.
Sekerková, G., L.
Zheng, P.A. Loomis, B. Changyaleket, D.S. Whitlon, E. Mugnaini, and J.R. Bartles (2004) Espins are multifunctional actin
cytoskeletal regulatory proteins in the microvilli of chemosensory and
mechanosensory cells. J.
Neurosci. 24, 5445-5456.
Loomis, P.A., A.E. Kelly, L.
Zheng, B. Changyaleket, G. Sekerková, E. Mugnaini, A. Ferreira,
R.D. Mullins, and J.R. Bartles (2006) Targeted wild-type and
jerker espins reveal a novel, WH2 domain-dependent way to make actin
bundles in cells. J. Cell
Sci.119, 1655-1665.
Purdy, K.R., J.R.
Bartles, and G.C. Wong (2007) Structural polymorphism of the
actin-espin system: a prototypical system of filaments and linkers in
stereocilia. Phys. Rev. Lett. 98, 058105.
Sekerková, G., L.
Zheng, E. Mugnaini, and J.R. Bartles (2008) Espin
actin-cytoskeletal proteins are in rat type-I spiral ganglion neurons and
include splice-isoforms with a functional nuclear localization signal. J.
Comp. Neurol. 509, 661-676.
Shin, H., K.R. Purdy Drew,
J.R. Bartles, G.C. Wong, and G.M. Grason (2009) Cooperativity and frustration
in protein-mediated parallel actin bundles. Phys. Rev. Lett. 103, 238102.
Zheng, L., J. Zheng, D.S.
Whitlon, J. García-Añoveros, and J.R. Bartles (2010)
Targeting of the hair cell proteins cadherin 23, harmonin, myosin XVa,
espin, and prestin in an epithelial cell model. J. Neurosci. 30,
7187-7201.
Sekerková, G.,
C.-P. Richter, and J.R. Bartles (2011) Roles of the espin
actin-bundling proteins in the morphogenesis and stabilization of hair
cell stereocilia revealed in CBA/CaJ congenic jerker mice. PLoS Genet.
7(3): e1002032.
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