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Direct assessment of the effect of the Gly380Arg achondroplasia mutation on FGFR3 dimerization using quantitative imaging FRET.
[achondroplasia]
The
Gly
380
A
rg
mutation
in
FGFR
3
is
the
genetic
cause
for
achondroplasia
(
ACH
)
,
the
most
common
form
of
human
dwarfism
.
The
mutation
has
been
proposed
to
increase
FGFR
3
dimerization
,
but
the
dimerization
propensities
of
wild-
type
and
mutant
FGFR
3
have
not
been
compared
.
Here
we
use
quantitative
imaging
FRET
to
characterize
the
dimerization
of
wild-
type
FGFR
3
and
the
ACH
mutant
in
plasma
membrane-derived
vesicles
from
HEK
293
T
cells
.
We
demonstrate
a
small
,
but
statistically
significant
increase
in
FGFR
3
dimerization
due
to
the
ACH
mutation
.
The
data
are
consistent
with
the
idea
that
the
ACH
mutation
causes
a
structural
change
which
affects
both
the
stability
and
the
activity
of
FGFR
3
dimers
in
the
absence
of
ligand
.
