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Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse.
[child syndrome]
NSDHL
(
NAD
(
P
)
H
sterol
dehydrogenase-like
)
,
is
a
3
beta
-hydroxysterol
dehydrogenase
thought
to
function
in
the
demethylation
of
sterol
precursors
in
one
of
the
later
steps
of
cholesterol
biosynthesis
.
Mutations
in
the
X-
linked
NSDHL
gene
cause
CHILD
syndrome
in
humans
,
and
the
male-
lethal
bare
patches
(
Bpa
)
phenotype
in
mice
.
The
relative
level
of
NSDHL
expression
among
different
mouse
tissues
at
several
stages
of
embryogenesis
and
postnatal
development
was
analyzed
by
immunohistochemistry
.
In
wild
type
(
WT
)
embryos
,
the
highest
levels
of
expression
were
seen
in
the
liver
,
dorsal
root
ganglia
,
central
nervous
system
,
retina
,
adrenal
gland
and
testis
.
Heterozygous
Bpa
(
1
H
)
females
are
mosaic
for
NSDHL
expression
due
to
normal
random
X-
inactivation
.
NSDHL
-
deficient
cells
were
detected
in
the
developing
cerebral
cortex
and
retina
of
Bpa
(
1
H
)
female
embryos
.
In
postnatal
WT
and
Bpa
(
1
H
)
animals
,
we
compared
the
expression
pattern
of
NSDHL
in
skin
,
an
affected
tissue
;
liver
,
a
main
site
of
cholesterol
synthesis
;
and
brain
,
a
tissue
dependent
on
endogenous
synthesis
of
cholesterol
due
to
lack
of
transport
across
the
blood
-
brain
barrier
.
Clonal
populations
of
mutant
cells
were
visible
in
the
brain
,
skin
and
liver
of
Bpa
(
1
H
)
pups
.
In
the
liver
,
the
proportion
of
NSDHL
negative
cells
dropped
from
approximately
50
%
at
postnatal
day
6
to
approximately
20
%
at
one
year
of
age
.
In
the
brain
,
which
showed
the
highest
expression
in
cerebral
cortical
and
hippocampal
neurons
,
the
proportion
of
NSDHL
negative
cells
also
dropped
dramatically
over
the
first
year
of
life
.
Our
results
suggest
that
while
NSDHL
-
deficient
cells
in
the
mosaic
Bpa
(
1
H
)
female
are
able
to
survive
and
differentiate
during
embryonic
development
,
they
are
subject
to
negative
selection
over
the
life
of
the
animal
.
Diseases
Validation
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"first year"
symptom
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phenylketonuria
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waldenström macroglobulinemia
wolf-hirschhorn syndrome
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