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A reporter-based screen to identify potent 3' trans-splicing molecules for endogenous RNA repair.
[dystrophic epidermolysis bullosa]
In
the
treatment
of
genetic
disorders
,
repairing
defective
pre-m
RNAs
by
RNA
trans-splicing
has
become
an
emerging
alternative
to
conventional
gene
therapy
.
Previous
studies
have
made
clear
that
the
design
of
the
binding
domains
of
the
corrective
RNA
trans-splicing
molecules
(
RTMs
)
is
crucial
for
their
optimal
functionality
.
We
established
a
reporter-based
screening
method
that
allows
for
selection
of
highly
functional
RTMs
from
a
large
pool
of
variants
.
The
efficiency
and
functionality
of
the
screen
were
validated
in
the
COL
7
A
1
gene
,
in
which
mutations
are
the
cause
of
the
skin
disease
dystrophic
epidermolysis
bullosa
.
Comparison
of
RTMs
containing
different
binding
domains
hybridizing
to
COL
7
A
1
intron
64
/
exon
65
revealed
highly
different
trans-splicing
efficiencies
.
Isolated
RTMs
were
then
adapted
for
endogenous
trans-splicing
in
a
recessive
dystrophic
epidermolysis
bullosa
(
RDEB
)
keratinocyte
cell
line
expressing
reduced
levels
of
COL
7
A
1
mRNA
.
Our
results
confirm
the
applicability
and
relevance
of
prescreening
reporter
RTMs
,
as
significant
levels
of
endogenous
COL
7
A
1
mRNA
repair
were
seen
with
RTMs
identified
as
being
highly
efficient
in
our
screening
system
.
Diseases
Validation
Diseases presenting
"made clear that the design of the binding domains"
symptom
dystrophic epidermolysis bullosa
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