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Functional characterization of the zebrafish WHSC1-related gene, a homolog of human NSD2.
[wolf-hirschhorn syndrome]
Methylation
of
specific
lysine
residues
of
histone
H
3
and
H
4
has
been
reported
to
be
important
in
the
structuring
of
chromatin
and
for
the
transcription
of
certain
genes
.
Proteins
with
SET
domains
have
been
shown
to
methylate
specific
lysine
residues
of
histone
H
3
and
H
4
.
We
isolated
a
SET
domain-containing
gene
from
the
zebrafish
(
Danio
rerio
)
.
The
gene
has
the
highest
sequence
similarity
to
human
NSD
2
,
also
known
as
Wolf-
Hirschhorn
syndrome
candidate
1
or
WHSC
1
,
and
therefore
,
was
named
DrWhsc
1
.
DrWhsc
1
mRNA
is
expressed
in
various
tissues
with
the
highest
level
in
testis
.
Morpholino
oligonucleotides
for
the
DrWhsc
1
gene
affected
early
embryogenesis
in
zebrafish
,
such
as
endbrain
enlargement
,
abnormal
cartilage
,
marked
reduction
of
bone
,
and
incomplete
motor
neuron
formation
.
Such
developmental
abnormalities
are
also
observed
in
Wolf-
Hirschhorn
syndrome
patients
and
Whsc
1
-
deficient
mice
.
In
addition
,
suppression
of
the
DrWhsc
1
gene
or
defect
in
the
SET
domain
of
DrWhsc
1
resulted
in
impairment
of
di
-methylation
of
histone
H
3
K
36
at
early
embryogenesis
.
These
results
indicate
that
DrWhsc
1
is
a
functional
homolog
of
WHSC
1
and
that
the
SET
domain
of
DrWhsc
1
is
essential
for
di
-methylation
of
histone
H
3
K
36
in
zebrafish
.
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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