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Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis.
[harlequin ichthyosis]
Zebrafish
(
Danio
rerio
)
can
serve
as
a
model
system
to
study
heritable
skin
diseases
.
The
skin
is
rapidly
developed
during
the
first
5
-
6
days
of
embryonic
growth
,
accompanied
by
expression
of
skin
-
specific
genes
.
Transmission
electron
microscopy
(
TEM
)
of
wild-
type
zebrafish
at
day
5
reveals
a
two
-cell-layer
epidermis
separated
from
the
underlying
collagenous
stroma
by
a
basement
membrane
with
fully
developed
hemidesmosomes
.
Scanning
electron
microscopy
(
SEM
)
reveals
an
ordered
surface
contour
of
keratinocytes
with
discrete
microridges
.
To
gain
insight
into
epidermal
morphogenesis
,
we
have
employed
morpholino-mediated
knockdown
of
the
abca
12
and
snap
29
genes
,
which
are
crucial
for
secretion
of
lipids
and
intracellular
trafficking
of
lamellar
granules
,
respectively
.
Morpholinos
,
when
placed
on
exon-intron
junctions
,
were
>
90
%
effective
in
preventing
the
corresponding
gene
expression
when
injected
into
one
-
to
four
-cell-
stage
embryos
.
By
day
3
,
TEM
of
abca
12
morphants
showed
accumulation
of
lipid-containing
electron-
dense
lamellar
granules
,
whereas
snap
29
morphants
showed
the
presence
of
apparently
empty
vesicles
in
the
epidermis
.
Evaluation
of
epidermal
morphogenesis
by
SEM
revealed
similar
perturbations
in
both
cases
in
the
microridge
architecture
and
the
development
of
spicule-like
protrusions
on
the
surface
of
keratinocytes
.
These
morphological
findings
are
akin
to
epidermal
changes
in
harlequin
ichthyosis
and
CEDNIK
syndrome
,
autosomal
recessive
keratinization
disorders
due
to
mutations
in
the
ABCA
12
and
SNAP
29
genes
,
respectively
.
The
results
indicate
that
interference
of
independent
pathways
involving
lipid
transport
in
the
epidermis
can
result
in
phenotypically
similar
perturbations
in
epidermal
morphogenesis
,
and
that
these
fish
mutants
can
serve
as
a
model
to
study
the
pathomechanisms
of
these
keratinization
disorders
.
Diseases
Validation
Diseases presenting
"stage embryos"
symptom
harlequin ichthyosis
oculocutaneous albinism
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