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Histone H3 lysine 36 methyltransferase Whsc1 promotes the association of Runx2 and p300 in the activation of bone-related genes.
[wolf-hirschhorn syndrome]
The
orchestration
of
histone
modifiers
is
required
to
establish
the
epigenomic
status
that
regulates
gene
expression
during
development
.
Whsc
1
(
Wolf
-
Hirschhorn
Syndrome
candidate
1
)
,
a
histone
H
3
lysine
36
(
H
3
K
36
)
trimethyltransferase
,
is
one
of
the
major
genes
associated
with
Wolf
-
Hirshhorn
syndrome
,
which
is
characterized
by
skeletal
abnormalities
.
However
,
the
role
of
Whsc
1
in
skeletal
development
remains
unclear
.
Here
,
we
show
that
Whsc
1
regulates
gene
expression
through
Runt-related
transcription
factor
(
Runx
)
2
,
a
transcription
factor
central
to
bone
development
,
and
p
300
,
a
histone
acetyltransferase
,
to
promote
bone
differentiation
.
Whsc
1
-
/
-
embryos
exhibited
defects
in
ossification
in
the
occipital
bone
and
sternum
.
Whsc
1
knockdown
in
pre-osteoblast
cells
perturbed
histone
modification
patterns
in
bone
-related
genes
and
led
to
defects
in
bone
differentiation
.
Whsc
1
increased
the
association
of
p
300
with
Runx
2
,
activating
the
bone
-related
genes
Osteopontin
(
Opn
)
and
Collagen
type
Ia
(
Col
1
a
1
)
,
and
Whsc
1
suppressed
the
overactivation
of
these
genes
via
H
3
K
36
trimethylation
.
Our
results
suggest
that
Whsc
1
fine-tunes
the
expression
of
bone
-related
genes
by
acting
as
a
modulator
in
balancing
H
3
K
36
trimethylation
and
histone
acetylation
.
Our
results
provide
novel
insight
into
the
mechanisms
by
which
this
histone
methyltransferase
regulates
gene
expression
.
Diseases
Validation
Diseases presenting
"and p300"
symptom
wolf-hirschhorn syndrome
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