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Expression of exon-8-skipped kindlin-1 does not compensate for defects of Kindler syndrome.
[kindler syndrome]
Kindler
syndrome
(
KS
)
is
a
rare
,
inherited
skin
disease
characterized
by
blister
formation
and
generalized
poikiloderma
.
Mutations
in
KIND
1
,
which
encodes
kindlin-
1
,
are
responsible
for
KS
.
c
.
1089
del
/
1089
+
1
del
is
a
recurrent
splice-site
deletion
mutation
in
KS
patients
.
To
elucidate
the
effects
of
c
.
1089
del
/
1089
+
1
del
at
the
mRNA
and
protein
level
.
Two
KS
patients
with
c
.
1089
del
/
1089
+
1
del
were
included
in
this
study
.
Immunofluorescence
analysis
of
KS
skin
samples
using
antibodies
against
the
dermo-epidermal
junction
proteins
was
performed
.
Exon-trapping
experiments
were
performed
to
isolate
the
mRNA
sequences
transcribed
from
genomic
DNA
harbouring
c
.
1089
del
/
1089
+
1
del
.
β
1
integrin
activation
in
HeLa
cells
transfected
with
truncated
KIND
1
cDNA
was
analyzed
.
Immunofluorescence
study
showed
positive
expression
of
kindlin-
1
in
KS
skin
with
c
.
1089
del
/
1089
+
1
del
mutation
.
We
identified
the
exon-
8
-
skipped
in
-frame
transcript
as
the
main
product
among
multiple
splicing
variants
derived
from
that
mutation
.
HeLa
cells
transfected
with
KIND
1
cDNA
without
exon
8
showed
impaired
β
1
integrin
activation
.
Exon-
8
-
coding
amino
acids
are
located
in
the
FERM
F
2
domain
,
which
is
conserved
among
species
,
and
the
unstructured
region
between
F
2
and
the
pleckstrin
homology
domain
.
This
study
suggests
that
exon-
8
-
skipped
truncated
kindlin-
1
is
functionally
defective
and
does
not
compensate
for
the
defects
of
KS
,
even
though
kindlin-
1
expression
in
skin
is
positive
.
Diseases
Validation
Diseases presenting
"skin samples"
symptom
child syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
kindler syndrome
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