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The human cystatin M/E gene (CST6): exclusion candidate gene for harlequin ichthyosis.
[harlequin ichthyosis]
Cystatin
M
/
E
is
a
recently
discovered
cysteine
proteinase
inhibitor
whose
expression
is
largely
confined
to
cutaneous
epithelia
.
In
human
skin
it
is
expressed
in
sweat
glands
,
hair
follicles
,
and
stratum
granulosum
of
the
epidermis
where
it
presumably
acts
as
a
substrate
for
transglutaminase
.
Very
recently
we
reported
that
a
null
mutation
in
the
mouse
cystatin
M
/
E
gene
(
Cst
6
)
causes
the
murine
ichq
phenotype
,
which
is
characterized
by
abnormalities
in
cornification
and
desquamation
,
demonstrating
an
essential
role
for
cystatin
M
/
E
in
the
final
stages
of
epidermal
differentiation
.
We
here
obtained
the
complete
sequence
of
the
human
cystatin
M
/
E
gene
(
CST
6
)
,
which
provides
a
tool
to
investigate
CST
6
as
a
candidate
gene
in
skin
diseases
characterized
by
abnormal
cornification
.
The
involvement
of
CST
6
in
harlequin
ichthyosis
in
humans
was
evaluated
by
sequencing
the
entire
coding
region
and
intron-exon
boundaries
for
mutations
in
11
sporadic
harlequin
ichthyosis
patients
.
No
CST
6
mutations
were
detected
in
this
group
,
which
comprised
type
1
and
type
2
harlequin
ichthyosis
patients
.
Disturbed
transcription
/
translation
due
to
mutations
in
regulatory
and
noncoding
regions
of
cystatin
M
/
E
was
unlikely
because
cystatin
M
/
E
protein
expression
was
observed
in
all
patients
examined
,
as
assessed
by
immunohistochemistry
.
Although
our
results
indicate
that
CST
6
is
not
a
major
gene
contributing
to
type
1
and
2
harlequin
ichthyosis
,
these
data
may
facilitate
further
analysis
of
the
role
of
cystatin
M
/
E
in
normal
human
skin
and
other
genetic
disorders
of
cornification
.
Diseases
Validation
Diseases presenting
"ichthyosis in humans"
symptom
epidermolysis bullosa simplex
harlequin ichthyosis
lamellar ichthyosis
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