Rare Diseases Symptoms Automatic Extraction
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Wolf-Hirschhorn syndrome candidate 1 is involved in the cellular response to DNA damage.
[wolf-hirschhorn syndrome]
Wolf-
Hirschhorn
syndrome
(
WHS
)
is
a
malformation
syndrome
associated
with
growth
retardation
,
mental
retardation
,
and
immunodeficiency
resulting
from
a
hemizygous
deletion
of
the
short
arm
of
chromosome
4
,
called
the
WHS
critical
region
(
WHSC
)
.
The
WHSC
1
gene
is
located
in
this
region
,
and
its
loss
is
believed
to
be
responsible
for
a
number
of
WHS
characteristics
.
We
identified
WHSC
1
in
a
genetic
screen
for
genes
involved
in
responding
to
replication
stress
,
linking
Wolf-
Hirschhorn
syndrome
to
the
DNA
damage
response
(
DDR
)
.
Here
,
we
report
that
the
WHSC
1
protein
is
a
member
of
the
DDR
pathway
.
WHSC
1
localizes
to
sites
of
DNA
damage
and
replication
stress
and
is
required
for
resistance
to
many
DNA-damaging
and
replication
stress-inducing
agents
.
Through
its
SET
domain
,
WHSC
1
regulates
the
methylation
status
of
the
histone
H
4
K
20
residue
and
is
required
for
the
recruitment
of
53
BP
1
to
sites
of
DNA
damage
.
We
propose
that
Wolf-
Hirschhorn
syndrome
results
from
a
defect
in
the
DDR
.
