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Skin fragility and impaired desmosomal adhesion in mice lacking all keratins.
[epidermolysis bullosa simplex]
Keratins
perform
major
structural
and
regulatory
functions
in
epithelia
.
Owing
to
redundancy
,
their
respective
contribution
to
epidermal
integrity
,
adhesion
,
and
cell
junction
formation
has
not
been
addressed
in
full
.
Unexpectedly
,
the
constitutive
deletion
of
type
II
keratins
in
mice
was
embryonic
lethal
∼
E
9
.
5
without
extensive
tissue
damage
.
This
prompted
us
to
analyze
keratin
functions
in
skin
where
keratins
are
best
characterized
.
Here
,
we
compare
the
mosaic
and
complete
deletion
of
all
type
II
keratins
in
mouse
skin
,
with
distinct
consequences
on
epidermal
integrity
,
adhesion
,
and
organismal
survival
.
Mosaic
knockout
(
KO
)
mice
survived
∼
12
days
while
global
KO
mice
died
perinatally
because
of
extensive
epidermal
damage
.
Coinciding
with
absence
of
keratins
,
epidermal
fragility
,
inflammation
,
increased
epidermal
thickness
,
and
increased
proliferation
were
noted
in
both
strains
of
mice
,
accompanied
by
significantly
smaller
desmosomes
.
Decreased
desmosome
size
was
due
to
accumulation
of
desmosomal
proteins
in
the
cytoplasm
,
causing
intercellular
adhesion
defects
resulting
in
intercellular
splits
.
Mixing
different
ratios
of
wild-
type
and
KO
keratinocytes
revealed
that
∼
60
%
of
keratin-expressing
cells
were
sufficient
to
maintain
epithelial
sheets
under
stress
.
Our
data
reveal
a
major
contribution
of
keratins
to
the
maintenance
of
desmosomal
adhesion
and
epidermal
integrity
with
relevance
for
the
treatment
of
epidermolysis
bullosa
simplex
and
other
keratinopathies
.
Diseases
Validation
Diseases presenting
"causing intercellular adhesion defects resulting in intercellular splits"
symptom
epidermolysis bullosa simplex
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