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Tbx4 and tbx5 acting in connective tissue are required for limb muscle and tendon patterning.
[holt-oram syndrome]
Proper
functioning
of
the
musculoskeletal
system
requires
the
precise
integration
of
bones
,
muscles
,
and
tendons
.
Complex
morphogenetic
events
ensure
that
these
elements
are
linked
together
in
the
appropriate
three
-dimensional
configuration
.
It
has
been
difficult
,
however
,
to
tease
apart
the
mechanisms
that
regulate
tissue
morphogenesis
.
We
find
that
deletion
of
Tbx
5
in
forelimbs
(
or
Tbx
4
in
hindlimbs
)
specifically
affects
muscle
and
tendon
patterning
without
disrupting
skeletal
development
,
thus
suggesting
that
distinct
cues
regulate
these
processes
.
We
identify
muscle
connective
tissue
as
the
site
of
action
of
these
transcription
factors
and
show
that
N-Cadherin
and
beta
-
Catenin
are
key
downstream
effectors
acting
in
muscle
connective
tissue
and
regulating
soft
-tissue
morphogenesis
.
In
humans
,
TBX
5
mutations
lead
to
Holt-
Oram
syndrome
,
which
is
characterized
by
forelimb
musculoskeletal
defects
.
Our
results
suggest
that
a
focus
on
connective
tissue
is
required
to
understand
the
etiology
of
diseases
affecting
soft
tissue
formation
.
Diseases
Validation
Diseases presenting
"soft tissue formation"
symptom
holt-oram syndrome
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