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Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes.
[harlequin ichthyosis]
ABCA
12
is
an
ATP-binding
cassette
transporter
and
is
thought
to
act
as
a
transmembrane
lipid
transporter
.
We
reported
that
deleterious
ABCA
12
mutations
cause
a
disturbance
in
lamellar
granule
(
LG
)
lipid
transport
in
the
epidermal
granular
layer
keratinocytes
,
resulting
in
harlequin
ichthyosis
,
a
severe
genodermatosis
.
Detailed
localization
of
ABCA
12
in
comparison
with
glucosylceramide
and
Golgi
apparatus
markers
were
studied
in
order
to
obtain
clues
to
clarify
the
function
(
s
)
of
ABCA
12
in
human
skin
.
We
performed
double
-labelling
immunofluorescent
staining
using
antibodies
against
ABCA
12
,
glucosylceramide
and
two
Golgi
apparatus
markers
(
TGN
46
and
GM
130
)
in
normal
human
skin
and
cultured
keratinocytes
.
Immunogold
electron
microscopy
for
ABCA
12
and
glucosylceramide
was
studied
on
postembedding
and
cryoultrathin
sections
of
normal
human
skin
.
Confocal
laser
scanning
microscopy
demonstrated
that
ABCA
12
and
glucosylceramide
co
-
localized
in
the
granular
layer
keratinocytes
as
well
as
in
keratinocytes
cultured
in
high
Ca
2
+
conditions
through
the
Golgi
apparatus
to
the
cell
periphery
.
Postembedding
immunogold
electron
microscopy
revealed
that
both
ABCA
12
and
glucosylceramide
labellings
were
associated
with
the
LG
of
the
uppermost
granular
layer
keratinocytes
.
Using
cryoultramicrotomy
,
lamellar
structures
in
the
LG
were
more
clearly
observed
,
and
ultrastructural
localization
of
ABCA
12
and
glucosylceramide
was
better
demonstrated
to
LG
in
the
uppermost
granular
layer
cells
.
These
results
indicate
that
ABCA
12
plays
an
important
role
in
lipid
transport
from
the
Golgi
apparatus
to
LG
in
human
granular
layer
keratinocytes
.
Diseases
Validation
Diseases presenting
"ichthyosis"
symptom
child syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
hirschsprung disease
junctional epidermolysis bullosa
kallmann syndrome
lamellar ichthyosis
This symptom has already been validated