N ATU RE N EU RO SCI EN CE VOLUME 7 | NUMBER 12 | DECEMBER 2004 1303
ARTICLES
The assembly of neural connections depends on the precision with which
growth cones navigate to their synaptic partners. En route to their tar-
gets, growth cones encounter a series of choice points, at which indi-
vidual growth cones choose a path specific for their neuronal subtype.
Specialized cells at the central nervous system midline provide a well-
characterized repertoire of signals that control divergent axonal behav-
iors
1,2
. In contrast, much less is known about the cell types and molecules
that direct individual motor axons at peripheral choice points. It is clear
that trajectory choice by motor axons is dictated by neuronal expression
of cell-specific transcription factors, but also critically depends on extrin-
sic cues
3,4
. For example, the plexus region at the base of the avian limb
serves as an intermediate target at which individual motor neuron popu-
lations make divergent pathway choices
5
. Elegant microsurgical manipu-
lations in the chick have suggested the existence of guidance cues in this
area
6,7
. However, with a few exceptions such as mesenchymal ephrin A
directing EphA-positive motor axons
8,9
, little is known about extrinsic
signals that control vertebrate motor axon guidance.
Studies on motor pathway choice in the zebrafish have the advantage of
single-cell resolution. Each of the three segmental primary motor neurons
projecting into axial muscle has a distinct spinal cord position, expresses a
unique combination of LIM homeodomain transcription factors and has
a stereotyped axonal trajectory
10
. Initially, all three motor growth cones
extend along the medial surface of the somites toward a somitic choice
point
11,12
. Here, all growth cones first pause and make extensive contacts
with specialized cells called muscle pioneers
13,14
, then select a cell-type
specific path to ventral, dorsal or medial myotomal regions ( Fig. 1a).
We have previously shown that the unplugged gene, through a non–cell-
autonomous mechanism, provides competence for motor growth cones
to navigate this choice point
15
. In unplugged-null mutants, two of the three
motor neurons fail to select their cell type–specific path. Chimera studies
showed that unplugged is dispensable in muscle pioneer cells located at the
choice point but is required in dorsal adaxial cells
15
. Initially, these dorsal
adaxial cells delineate the axonal path leading to the choice point, but as
motor growth cones approach, they migrate away
16,17
(Fig. 1). Based on
these results, we proposed that, before their migration, unplugged enables
dorsal adaxial cells to modify the extracellular matrix (ECM) adjacent to
the choice point, thereby providing competence to growth cones to select
the correct path before reaching the upcoming choice point
15
(Fig. 1).
Here, we report the positional cloning of the unplugged gene and show
that it encodes a receptor tyrosine kinase most similar to MuSK and their
related orphan receptors (RORs)
18
. In mammals, MuSK is essential for
the assembly of neuromuscular junctions, where it responds to agrin
signals to recruit the intracellular linker rapsyn and cluster acetylcho-
line receptors (AChRs)
19,20
. We show in the zebrafish that functional
neuromuscular synapses develop in complete absence of the unplugged
gene. We find that alternative splicing generates three different unplugged
transcripts, and that one of these isoforms lacks the extracellular modules
mediating agrin-induced AChR clustering. We demonstrate that signal-
ing through this unplugged isoform occurs independently of rapsyn and is
essential for motor axons to choose their future path. Our results uncover
a specific and previously unknown role of MuSK homologs in motor
axonal pathway selection.
RESULTS
Positional cloning of unplugged
We had previously mapped the unplugged locus to a small interval
1
Department of Cell and Developmental Biology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104-6058, USA.
2
Present address:
Whitehead Institute for Biomedical Research, Cambridge, Massachusetts, USA.
3
These authors contributed equally to this work. Correspondence should be addressed
to M.G. (granatom@mail.med.upenn.edu).
Published online 14 November 2004; doi:10.1038/nn1350
Zebrafish unplugged reveals a role for muscle-
specific kinase homologs in axonal pathway choice
Jing Zhang
1–3
, Julie L Lefebvre
1,3
, Shuxia Zhao
1,3
& Michael Granato
1
En route to their target, pioneering motor growth cones repeatedly encounter choice points at which they make pathway decisions.
In the zebrafish mutant unplugged, two of the three segmental motor axons make incorrect decisions at a somitic choice point.
Using positional cloning, we show here that unplugged encodes a homolog of muscle-specific kinase (MuSK) and that, unlike
mammalian MuSK, unplugged has only a limited role in neuromuscular synaptogenesis. We demonstrate that unplugged is
transiently expressed in cells adjacent to the choice point and that unplugged signaling before the arrival of growth cones induces
changes in the extracellular environment. In addition, we find that the unplugged locus generates three different transcripts.
The splice variant 1 (SV1) isoform lacks the extracellular modules essential for agrin responsiveness, and signaling through this
isoform mediates axonal pathfinding, independent of the MuSK downstream component rapsyn. Our results demonstrate a new
role for MuSK homologs in axonal pathway selection.
© 2004 Nature Publishing Group http://www.nature.com/natureneuroscience