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Directed expression of a chimeric type II keratin partially rescues keratin 5-null mice.
[epidermolysis bullosa simplex]
The
crucial
role
of
structural
support
fulfilled
by
keratin
intermediate
filaments
(
IFs
)
in
surface
epithelia
likely
requires
that
they
be
organized
into
cross-linked
networks
.
For
IFs
comprised
of
keratins
5
and
14
(
K
5
and
K
14
)
,
which
occur
in
basal
keratinocytes
of
the
epidermis
,
formation
of
cross-linked
bundles
is
,
in
part
,
self-driven
through
cis-acting
determinants
.
Here
,
we
targeted
the
expression
of
a
bundling-competent
KRT
5
/
KRT
8
chimeric
cDNA
(
KRT
8
bc
)
or
bundling-
deficient
wild
type
KRT
8
as
a
control
to
the
epidermal
basal
layer
of
Krt
5
-
null
mice
to
assess
the
functional
importance
of
keratin
IF
self-organization
in
vivo
.
Such
targeted
expression
of
K
8
bc
rescued
Krt
5
-
null
mice
with
a
47
%
frequency
,
whereas
K
8
completely
failed
to
do
so
.
This
outcome
correlated
with
lower
than
expected
levels
of
K
8
bc
and
especially
K
8
mRNA
and
protein
in
the
epidermis
of
E
18
.
5
replacement
embryos
.
Ex
vivo
culture
of
embryonic
skin
keratinocytes
confirmed
the
ability
of
K
8
bc
to
form
IFs
in
the
absence
of
K
5
.
Additionally
,
electron
microscopy
analysis
of
E
18
.
5
embryonic
skin
revealed
that
the
striking
defects
observed
in
keratin
IF
bundling
,
cytoarchitecture
,
and
mitochondria
are
partially
restored
by
K
8
bc
expression
.
As
young
adults
,
viable
KRT
8
bc
replacement
mice
develop
alopecia
and
chronic
skin
lesions
,
indicating
that
the
skin
epithelia
are
not
completely
normal
.
These
findings
are
consistent
with
a
contribution
of
self-mediated
organization
of
keratin
IFs
to
structural
support
and
cytoarchitecture
in
basal
layer
keratinocytes
of
the
epidermis
and
underscore
the
importance
of
context-dependent
regulation
for
keratin
genes
and
proteins
in
vivo
.
Diseases
Validation
Diseases presenting
"basal keratinocytes of the epidermis"
symptom
epidermolysis bullosa simplex
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