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A WW domain protein TAZ is a critical coactivator for TBX5, a transcription factor implicated in Holt-Oram syndrome.
[holt-oram syndrome]
The
T
-
box
transcription
factor
TBX
5
plays
essential
roles
in
cardiac
and
limb
development
.
Various
mutations
in
the
TBX
5
gene
have
been
identified
in
patients
with
Holt-
Oram
syndrome
,
which
is
characterized
by
congenital
defects
in
the
heart
and
upper
extremities
.
In
this
study
,
we
identified
a
WW-domain-containing
transcriptional
regulator
TAZ
as
a
potent
TBX
5
coactivator
.
TAZ
directly
associates
with
TBX
5
and
markedly
stimulates
TBX
5
-
dependent
promoters
by
interacting
with
the
histone
acetyltransferases
p
300
and
PCAF
.
YAP
,
a
TAZ
-related
protein
with
conserved
functional
domains
,
also
stimulates
TBX
5
-
dependent
transcription
,
possibly
by
forming
a
heterodimer
with
TAZ
.
TBX
5
lacks
a
PY
motif
,
which
mediates
the
association
of
other
proteins
with
TAZ
,
and
interacts
with
TAZ
through
multiple
domains
including
its
carboxyl-terminal
structure
.
Truncation
mutants
of
TBX
5
identified
in
patients
with
Holt-
Oram
syndrome
were
markedly
impaired
in
their
ability
to
associate
with
and
be
stimulated
by
TAZ
.
These
findings
reveal
key
roles
for
TAZ
and
YAP
in
the
control
of
TBX
5
-
dependent
transcription
and
suggest
the
involvement
of
these
coactivators
in
cardiac
and
limb
development
.