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Tbx1 is required autonomously for cell survival and fate in the pharyngeal core mesoderm to form the muscles of mastication.
[22q11.2 deletion syndrome]
Velo-cardio-
facial
/
DiGeorge
syndrome
,
also
known
as
22
q
11
.
2
deletion
syndrome
,
is
a
congenital
anomaly
disorder
characterized
by
craniofacial
anomalies
including
velo-pharyngeal
insufficiency
,
facial
muscle
hypotonia
and
feeding
difficulties
,
in
part
due
to
hypoplasia
of
the
branchiomeric
muscles
.
Inactivation
of
both
alleles
of
mouse
Tbx
1
,
encoding
a
T
-
box
transcription
factor
,
deleted
on
chromosome
22
q
11
.
2
,
results
in
reduction
or
loss
of
branchiomeric
muscles
.
To
identify
downstream
pathways
,
we
performed
gene
profiling
of
microdissected
pharyngeal
arch
one
(
PA
1
)
from
Tbx
1
(
+
/
+
)
and
Tbx
1
(
-
/
-
)
embryos
at
stages
E
9
.
5
(
somites
20
-
25
)
and
E
10
.
5
(
somites
30
-
35
)
.
Basic
helix
-loop-
helix
(
bHLH
)
transcription
factors
were
reduced
,
while
secondary
heart
field
genes
were
increased
in
expression
early
and
were
replaced
by
an
increase
in
expression
of
cellular
stress
response
genes
later
,
suggesting
a
change
in
gene
expression
patterns
or
cell
populations
.
Lineage
tracing
studies
using
Mesp
1
(
Cre
)
and
T
-Cre
drivers
showed
that
core
mesoderm
cells
within
PA
1
were
present
at
E
9
.
5
but
were
greatly
reduced
by
E
10
.
5
in
Tbx
1
(
-
/
-
)
embryos
.
Using
Tbx
1
(
Cre
)
knock-
in
mice
,
we
found
that
cells
are
lost
due
to
apoptosis
,
consistent
with
increase
in
expression
of
cellular
stress
response
genes
at
E
10
.
5
.
To
determine
whether
Tbx
1
is
required
autonomously
in
the
core
mesoderm
,
we
used
Mesp
1
(
Cre
)
and
T
-Cre
mesodermal
drivers
in
combination
with
inactivate
Tbx
1
and
found
reduction
or
loss
of
branchiomeric
muscles
from
PA
1
.
These
mechanistic
studies
inform
us
that
Tbx
1
is
required
upstream
of
key
myogenic
genes
needed
for
core
mesoderm
cell
survival
and
fate
,
between
E
9
.
5
and
E
10
.
5
,
resulting
in
formation
of
the
branchiomeric
muscles
.
Diseases
Validation
Diseases presenting
"apoptosis"
symptom
22q11.2 deletion syndrome
hodgkin lymphoma, classical
pendred syndrome
primary effusion lymphoma
systemic capillary leak syndrome
waldenström macroglobulinemia
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