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Kindlin-1 and -2 have overlapping functions in epithelial cells implications for phenotype modification.
[kindler syndrome]
Kindlins
are
a
novel
family
of
intracellular
adaptor
proteins
in
integrin-containing
focal
adhesions
.
Kindlin-
1
and
-
2
are
expressed
in
the
skin
,
but
whether
and
how
they
cooperate
in
adult
epithelial
cells
have
remained
elusive
.
We
uncovered
the
overlapping
roles
of
kindlin-
1
and
-
2
in
maintaining
epithelial
integrity
and
show
that
the
phenotype
of
kindlin-
1
-
deficient
cells
can
be
modulated
by
regulating
kindlin-
2
gene
expression
and
vice
versa
.
The
experimental
evidence
is
provided
by
use
of
human
keratinocyte
cell
lines
that
express
both
kindlins
,
just
kindlin-
1
or
kindlin-
2
,
or
none
of
them
.
Double
deficiency
of
kindlin-
1
and
-
2
had
significant
negative
effects
on
focal
adhesion
formation
and
actin
cytoskeleton
organization
,
cell
adhesion
,
survival
,
directional
migration
,
and
activation
of
β
(
1
)
integrin
,
whereas
deficiency
of
one
kindlin
only
showed
variable
perturbation
of
these
functions
.
Cell
motility
and
formation
of
cell-cell
contacts
were
particularly
affected
by
lack
of
kindlin-
2
.
These
results
predict
that
kindlin-
1
and
-
2
can
functionally
compensate
for
each
other
,
at
least
in
part
.
The
high
physiologic
and
pathologic
significance
of
the
compensation
was
emphasized
by
the
discovery
of
environmental
regulation
of
kindlin-
2
expression
.
UV-B
irradiation
induced
loss
of
kindlin-
2
in
keratinocytes
.
This
first
example
of
environmental
regulation
of
kindlin
expression
has
implications
for
phenotype
modulation
in
Kindler
syndrome
,
a
skin
disorder
caused
by
kindlin-
1
deficiency
.
Diseases
Validation
Diseases presenting
"deficiency of kindlin-1"
symptom
kindler syndrome
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