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Analysis of Nsdhl-deficient embryos reveals a role for Hedgehog signaling in early placental development.
[child syndrome]
The
X-
linked
Nsdhl
gene
encodes
a
sterol
dehydrogenase
involved
in
cholesterol
biosynthesis
.
Mutations
in
this
gene
cause
the
male
lethal
phenotypes
in
human
CHILD
syndrome
and
bare
patches
(
Bpa
)
mice
.
Affected
male
embryos
for
several
mutant
Nsdhl
alleles
die
in
mid-gestation
with
a
thin
and
poorly
vascularized
placental
labyrinth
.
The
timing
and
specific
abnormalities
noted
suggest
a
defect
in
one
or
more
developmental
signaling
pathways
as
a
possible
mechanism
.
Here
,
we
examined
the
possible
involvement
of
the
hedgehog
signaling
pathway
in
the
placental
pathology
of
Nsdhl
mutants
using
a
transgenic
mouse
line
(
Ptch
1
(
tm
1
Mps
)
)
that
contains
a
lacZ
reporter
under
the
control
of
the
promoter
for
Ptch
1
,
the
gene
that
encodes
the
major
hedgehog
receptor
.
We
demonstrate
expression
of
Ptch
1
in
allantoic
mesoderm
of
the
placenta
from
wild-
type
mid-gestation
embryos
.
The
evidence
suggests
that
the
signaling
is
induced
by
Indian
hedgehog
that
is
produced
by
distal
(
ectoplacental
)
visceral
endoderm
cells
that
migrate
into
the
allantoic
mesoderm
before
embryonic
day
10
.
0
.
Using
a
ubiquitously
expressed
,
X-
linked
lacZ
transgene
that
undergoes
normal
X-
inactivation
,
we
demonstrate
that
the
placental
defects
in
Nsdhl
/
+
female
embryos
are
non-cell
autonomous
.
Further
,
affected
placentas
from
mutant
Nsdhl
(
Bpa-
8
H
)
male
embryos
demonstrate
markedly
decreased
or
no
Ptch
1
-
lacZ
staining
and
no
migration
of
Ihh
expressing
cells
into
the
developing
placenta
.
These
data
strongly
implicate
the
hedgehog
signaling
pathway
in
the
pathogenesis
of
the
placental
defects
in
NSDHL
deficiency
and
provide
evidence
for
a
role
for
the
hedgehog
pathway
in
the
development
of
a
functional
mammalian
placenta
.
Diseases
Validation
Diseases presenting
"specific abnormalities"
symptom
adrenomyeloneuropathy
child syndrome
kabuki syndrome
monosomy 21
omenn syndrome
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