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A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome.
[wolf-hirschhorn syndrome]
Diverse
histone
modifications
are
catalysed
and
recognized
by
various
specific
proteins
,
establishing
unique
modification
patterns
that
act
as
transcription
signals
.
In
particular
,
histone
H
3
trimethylation
at
lysine
36
(
H
3
K
36
me
3
)
is
associated
with
actively
transcribed
regions
and
has
been
proposed
to
provide
landmarks
for
continuing
transcription
;
however
,
the
control
mechanisms
and
functions
of
H
3
K
36
me
3
in
higher
eukaryotes
are
unknown
.
Here
we
show
that
the
H
3
K
36
me
3
-
specific
histone
methyltransferase
(
HMTase
)
Wolf-
Hirschhorn
syndrome
candidate
1
(
WHSC
1
,
also
known
as
NSD
2
or
MMSET
)
functions
in
transcriptional
regulation
together
with
developmental
transcription
factors
whose
defects
overlap
with
the
human
disease
Wolf-
Hirschhorn
syndrome
(
WHS
)
.
We
found
that
mouse
Whsc
1
,
one
of
five
putative
Set
2
homologues
,
governed
H
3
K
36
me
3
along
euchromatin
by
associating
with
the
cell-
type
-
specific
transcription
factors
Sall
1
,
Sall
4
and
Nanog
in
embryonic
stem
cells
,
and
Nkx
2
-
5
in
embryonic
hearts
,
regulating
the
expression
of
their
target
genes
.
Whsc
1
-
deficient
mice
showed
growth
retardation
and
various
WHS-like
midline
defects
,
including
congenital
cardiovascular
anomalies
.
The
effects
of
Whsc
1
haploinsufficiency
were
increased
in
Nkx
2
-
5
heterozygous
mutant
hearts
,
indicating
their
functional
link
.
We
propose
that
WHSC
1
functions
together
with
developmental
transcription
factors
to
prevent
the
inappropriate
transcription
that
can
lead
to
various
pathophysiologies
.
Diseases
Validation
Diseases presenting
"deficient mice"
symptom
achondroplasia
allergic bronchopulmonary aspergillosis
benign recurrent intrahepatic cholestasis
canavan disease
classical phenylketonuria
cystinuria
epidermolysis bullosa simplex
fabry disease
harlequin ichthyosis
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
junctional epidermolysis bullosa
kallmann syndrome
omenn syndrome
papillon-lefèvre syndrome
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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