Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"cardiac progenitor cells from the second heart field"
symptom
22q11.2 deletion syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom