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Tbx1 coordinates addition of posterior second heart field progenitor cells to the arterial and venous poles of the heart.
[22q11.2 deletion syndrome]
Cardiac
progenitor
cells
from
the
second
heart
field
(
SHF
)
contribute
to
rapid
growth
of
the
embryonic
heart
,
giving
rise
to
right
ventricular
and
outflow
tract
(
OFT
)
myocardium
at
the
arterial
pole
of
the
heart
,
and
atrial
myocardium
at
the
venous
pole
.
Recent
clonal
analysis
and
cell-tracing
experiments
indicate
that
a
common
progenitor
pool
in
the
posterior
region
of
the
SHF
gives
rise
to
both
OFT
and
atrial
myocytes
.
The
mechanisms
regulating
deployment
of
this
progenitor
pool
remain
unknown
.
To
evaluate
the
role
of
TBX
1
,
the
major
gene
implicated
in
congenital
heart
defects
in
22
q
11
.
2
deletion
syndrome
patients
,
in
posterior
SHF
development
.
Using
transcriptome
analysis
,
genetic
tracing
,
and
fluorescent
dye-labeling
experiments
,
we
show
that
Tbx
1
-
dependent
OFT
myocardium
originates
in
Hox-expressing
cells
in
the
posterior
SHF
.
In
Tbx
1
null
embryos
,
OFT
progenitor
cells
fail
to
segregate
from
this
progenitor
cell
pool
,
leading
to
failure
to
expand
the
dorsal
pericardial
wall
and
altered
positioning
of
the
cardiac
poles
.
Unexpectedly
,
addition
of
SHF
cells
to
the
venous
pole
of
the
heart
is
also
impaired
,
resulting
in
abnormal
development
of
the
dorsal
mesenchymal
protrusion
,
and
partially
penetrant
atrioventricular
septal
defects
,
including
ostium
primum
defects
.
Tbx
1
is
required
for
inflow
as
well
as
OFT
morphogenesis
by
regulating
the
segregation
and
deployment
of
progenitor
cells
in
the
posterior
SHF
.
Our
results
provide
new
insights
into
the
pathogenesis
of
congenital
heart
defects
and
22
q
11
.
2
deletion
syndrome
phenotypes
.
Diseases
Validation
Diseases presenting
"failure to expand the dorsal pericardial wall"
symptom
22q11.2 deletion syndrome
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