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A deficiency in RFX3 causes hydrocephalus associated with abnormal differentiation of ependymal cells.
[hydrocephalus with stenosis of the aqueduct of sylvius]
Ciliated
ependymal
cells
play
central
functions
in
the
control
of
cerebrospinal
fluid
homeostasis
in
the
mammalian
brain
,
and
defects
in
their
differentiation
or
ciliated
properties
can
lead
to
hydrocephalus
.
Regulatory
factor
X
(
RFX
)
transcription
factors
regulate
genes
required
for
ciliogenesis
in
the
nematode
,
drosophila
and
mammals
.
We
show
here
that
Rfx
3
-
deficient
mice
suffer
from
hydrocephalus
without
stenosis
of
the
aqueduct
of
Sylvius
.
RFX
3
is
expressed
strongly
in
the
ciliated
ependymal
cells
of
the
subcommissural
organ
(
SCO
)
,
choroid
plexuses
(
CP
)
and
ventricular
walls
during
embryonic
and
postnatal
development
.
Ultrastructural
analysis
revealed
that
the
hydrocephalus
is
associated
with
a
general
defect
in
CP
differentiation
and
with
severe
agenesis
of
the
SCO
.
The
specialized
ependymal
cells
of
the
CP
show
an
altered
epithelial
organization
,
and
the
SCO
cells
lose
their
characteristic
ultrastructural
features
and
adopt
aspects
more
typical
of
classical
ependymal
cells
.
These
differentiation
defects
are
associated
with
changes
in
the
number
of
cilia
,
although
no
obvious
ultrastructural
defects
of
these
cilia
can
be
observed
in
adult
mice
.
Moreover
,
agenesis
of
the
SCO
is
associated
with
downregulation
of
SCO-spondin
expression
as
early
as
E
14
.
5
of
embryonic
development
.
These
results
demonstrate
that
RFX
3
is
necessary
for
ciliated
ependymal
cell
differentiation
in
the
mouse
.