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The histone methyltransferase MMSET regulates class switch recombination.
[wolf-hirschhorn syndrome]
Wolf-
Hirschhorn
syndrome
(
WHS
)
is
a
genetic
disease
with
characteristic
facial
features
and
developmental
disorders
.
Of
interest
,
loss
of
the
MMSET
gene
(
also
known
as
WHSC
1
)
is
considered
to
be
responsible
for
the
core
phenotypes
of
this
disease
.
Patients
with
WHS
also
display
Ab
deficiency
,
although
the
underlying
cause
of
this
deficiency
is
unclear
.
Recent
studies
suggest
that
the
histone
methyltransferase
activity
of
MMSET
plays
an
important
role
in
the
DNA
damage
response
by
facilitating
the
recruitment
of
53
BP
1
to
sites
of
DNA
damage
.
We
hypothesize
that
MMSET
also
regulates
class
switch
recombination
(
CSR
)
through
its
effect
on
53
BP
1
.
In
this
study
,
we
show
that
MMSET
indeed
plays
an
important
role
in
CSR
through
its
histone
methyltransferase
activity
.
Knocking
down
MMSET
expression
impaired
53
BP
1
recruitment
as
well
as
the
germline
transcription
of
the
Igh
switch
regions
,
resulting
in
defective
CSR
but
no
effect
on
cell
growth
and
viability
.
These
results
suggest
that
defective
CSR
caused
by
MMSET
deficiency
could
be
a
cause
of
Ab
deficiency
in
WHS
patients
.
Diseases
Validation
Diseases presenting
"also display"
symptom
familial hypocalciuric hypercalcemia
wolf-hirschhorn syndrome
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