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Septin9 is involved in septin filament formation and cellular stability.
[neuralgic amyotrophy]
Septin
9
(
Sept
9
)
is
a
member
of
the
filament-forming
septin
family
of
structural
proteins
and
is
associated
with
a
variety
of
cancers
and
with
hereditary
neuralgic
amyotrophy
.
We
have
generated
mice
with
constitutive
and
conditional
Sept
9
knockout
alleles
.
Homozygous
deletion
of
Sept
9
results
in
embryonic
lethality
around
day
10
of
gestation
whereas
mice
homozygous
for
the
conditional
allele
develop
normally
.
Here
we
report
the
consequences
of
homozygous
loss
of
Sept
9
in
immortalized
murine
embryonic
fibroblasts
.
Proliferation
rate
was
not
changed
but
cells
without
Sept
9
had
an
altered
morphology
compared
to
normal
cells
,
particularly
under
low
serum
stress
.
Abnormal
,
fragmented
,
and
multiple
nuclei
were
more
frequent
in
cells
without
Sept
9
.
Cell
migration
,
as
measured
by
gap-filling
and
filter-invasion
assays
,
was
impaired
,
but
individual
cells
did
not
move
less
than
wild-
type
cells
.
Sept
9
knockout
cells
showed
a
reduced
resistance
to
hypo-osmotic
stress
.
Stress
fiber
and
vinculin
staining
at
focal
adhesion
points
was
less
prominent
.
Long
septin
filaments
stained
for
Sept
7
disappeared
.
Instead
,
staining
was
found
in
short
,
often
curved
filaments
and
rings
.
Furthermore
,
Sept
7
was
no
longer
localized
to
the
mitotic
spindle
.
Together
,
these
data
reveal
the
importance
of
Sept
9
for
septin
filament
formation
and
general
cell
stability
.
Diseases
Validation
Diseases presenting
"often curved filaments"
symptom
neuralgic amyotrophy
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