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A random Abstract
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Our Team
Epigenetic mechanisms in cardiac development and disease.
[holt-oram syndrome]
During
mammalian
development
,
cardiac
specification
and
ultimately
lineage
commitment
to
a
specific
cardiac
cell
type
is
accomplished
by
the
action
of
specific
transcription
factors
(
TFs
)
and
their
meticulous
control
on
an
epigenetic
level
.
In
this
review
,
we
detail
how
cardiac
-
specific
TFs
function
in
concert
with
nucleosome
remodeling
and
histone-modifying
enzymes
to
regulate
a
diverse
network
of
genes
required
for
processes
such
as
cell
growth
and
proliferation
,
or
epithelial
to
mesenchymal
transition
(
EMT
)
,
for
instance
.
We
provide
examples
of
how
several
cardiac
TFs
,
such
as
Nkx
2
.
5
,
WHSC
1
,
Tbx
5
,
and
Tbx
1
,
which
are
associated
with
developmental
and
congenital
heart
defects
,
are
required
for
the
recruitment
of
histone
modifiers
,
such
as
Jarid
2
,
p
300
,
and
Ash
2
l
,
and
components
of
ATP-dependent
remodeling
enzymes
like
Brg
1
,
Baf
60
c
,
and
Baf
180
.
Binding
of
these
TFs
to
their
respective
sites
at
cardiac
genes
coincides
with
a
distinct
pattern
of
histone
marks
,
indicating
that
the
precise
regulation
of
cardiac
gene
networks
is
orchestrated
by
interactions
between
TFs
and
epigenetic
modifiers
.
Furthermore
,
we
speculate
that
an
epigenetic
signature
,
comprised
of
TF
occupancy
,
histone
modifications
,
and
overall
chromatin
organization
,
is
an
underlying
mechanism
that
governs
cardiac
morphogenesis
and
disease
.
Diseases
Validation
Diseases presenting
"congenital heart defects"
symptom
22q11.2 deletion syndrome
hirschsprung disease
holt-oram syndrome
kabuki syndrome
monosomy 21
phenylketonuria
wolf-hirschhorn syndrome
This symptom has already been validated