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Werner complex deficiency in cells disrupts the Nuclear Pore Complex and the distribution of lamin B1.
[werner syndrome]
From
the
surrounding
shell
to
the
inner
machinery
,
nuclear
proteins
provide
the
functional
plasticity
of
the
nucleus
.
This
study
highlights
the
nuclear
association
of
Pore
membrane
(
POM
)
protein
NDC
1
and
Werner
protein
(
WRN
)
,
a
RecQ
helicase
responsible
for
the
DNA
instability
progeria
disorder
,
Werner
Syndrome
.
In
our
previous
publication
,
we
connected
the
DNA
damage
sensor
Werner
's
Helicase
Interacting
Protein
(
WHIP
)
,
a
binding
partner
of
WRN
,
to
the
NPC
.
Here
,
we
confirm
the
association
of
the
WRN
/
WHIP
complex
and
NDC
1
.
In
established
WRN
/
WHIP
knockout
cell
lines
,
we
further
demonstrate
the
interdependence
of
WRN
/
WHIP
and
Nucleoporins
(
Nups
)
.
These
changes
do
not
completely
abrogate
the
barrier
of
the
Nuclear
Envelope
(
NE
)
but
do
affect
the
distribution
of
FG
Nups
and
the
RAN
gradient
,
which
are
necessary
for
nuclear
transport
.
Evidence
from
WRN
/
WHIP
knockout
cell
lines
demonstrates
changes
in
the
processing
and
nucleolar
localization
of
lamin
B
1
.
The
appearance
of
"
RAN
holes
"
void
of
RAN
corresponds
to
regions
within
the
nucleolus
filled
with
condensed
pools
of
lamin
B
1
.
From
WRN
/
WHIP
knockout
cell
line
extracts
,
we
found
three
forms
of
lamin
B
1
that
correspond
to
mature
holoprotein
and
two
potential
post-translationally
modified
forms
of
the
protein
.
Upon
treatment
with
topoisomerase
inhibitors
lamin
B
1
cleavage
occurs
only
in
WRN
/
WHIP
knockout
cells
.
Our
data
suggest
the
link
of
the
NDC
1
and
WRN
as
one
facet
of
the
network
between
the
nuclear
periphery
and
genome
stability
.
Loss
of
WRN
complex
leads
to
multiple
alterations
at
the
NPC
and
the
nucleolus
.
Diseases
Validation
Diseases presenting
"the nucleolus"
symptom
werner syndrome
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