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A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification.
[harlequin ichthyosis]
Cystatin
M
/
E
(
CST
6
)
,
a
new
member
of
the
cystatin
gene
family
,
has
a
restricted
expression
pattern
in
humans
,
which
is
largely
limited
to
cutaneous
epithelia
.
Although
cystatin
M
/
E
possesses
two
distinct
biochemical
properties
,
being
a
cysteine
proteinase
inhibitor
and
a
substrate
for
transglutaminase
,
its
physiological
function
is
unknown
.
Here
we
report
the
isolation
and
characterization
of
the
mouse
Cst
6
orthologue
and
the
assignment
of
the
chromosomal
localization
to
the
proximal
end
of
mouse
chromosome
19
.
This
region
corresponds
to
the
locus
of
the
spontaneous
harlequin
ichthyosis
(
ichq
)
mouse
mutation
,
for
which
no
causative
gene
has
been
identified
so
far
.
We
found
a
nonsense
mutation
in
the
Cst
6
gene
of
BALB
/
cJ-ichq
/
+
mice
,
which
precludes
the
synthesis
of
functional
protein
.
Immunohistochemistry
confirmed
the
absence
of
cystatin
M
/
E
at
the
protein
level
in
ichq
/
ichq
mice
.
Mice
that
are
homozygous
for
two
null
alleles
display
a
hyperplastic
,
hyperkeratotic
epidermis
and
abnormal
hair
follicles
,
and
die
between
5
and
12
days
of
age
.
In
wild-
type
mice
,
cystatin
M
/
E
was
found
in
the
stratum
granulosum
and
in
the
infundibulum
of
the
hair
follicle
indicating
that
the
anatomical
site
in
the
skin
where
cystatin
M
/
E
is
normally
expressed
correlates
with
the
abnormalities
at
the
tissue
level
in
ichq
/
ichq
mice
.
Our
data
provide
evidence
that
cystatin
M
/
E
is
required
for
viability
and
for
correct
formation
of
cornified
layers
in
the
epidermis
and
hair
follicles
.
The
ichq
mouse
mutation
may
serve
as
a
model
for
human
type
2
harlequin
ichthyosis
.
Diseases
Validation
Diseases presenting
"spontaneous harlequin ichthyosis"
symptom
harlequin ichthyosis
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