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Diverse functions of kindlin/fermitin proteins during embryonic development in Xenopus laevis.
[kindler syndrome]
The
kindlin
/
fermitin
family
includes
three
proteins
involved
in
regulating
integrin
ligand-binding
activity
and
adhesion
.
Loss
-of-function
mutations
in
kindlins
1
and
3
have
been
implicated
in
Kindler
Syndrome
and
Leukocyte
Adhesion
Deficiency
III
(
LAD-
III
)
respectively
,
whereas
kindlin
2
null
mice
are
embryonic
lethal
.
Post
translational
regulation
of
cell-cell
and
cell-
ECM
adhesion
has
long
been
presumed
to
be
important
for
morphogenesis
,
however
,
few
specific
examples
of
activation-dependent
changes
in
adhesion
molecule
function
in
normal
development
have
been
reported
.
In
this
study
,
antisense
morpholinos
were
used
to
reduce
expression
of
individual
kindlins
in
Xenopus
laevis
embryos
in
order
to
investigate
their
roles
in
early
development
.
Kindlin
1
knockdown
resulted
in
developmental
delays
,
gross
malformations
of
the
gut
and
eventual
lethality
by
tadpole
stages
.
Kindlin
2
morphant
embryos
displayed
late
stage
defects
in
vascular
maintenance
and
angiogenic
branching
consistent
with
kindlin
2
loss
of
function
in
the
mouse
.
Antisense
morpholinos
were
also
used
to
deplete
maternal
kindlin
2
protein
in
oocytes
and
eggs
.
Embryos
lacking
maternal
kindlin
2
arrested
at
early
cleavage
stages
due
to
failures
in
cytokinesis
.
Kindlin
3
morphant
phenotypes
included
defects
in
epidermal
ciliary
beating
and
partial
paralysis
at
tailbud
stages
but
these
embryos
recovered
eventually
as
morpholino
levels
decayed
.
These
results
indicate
a
remarkably
diverse
range
of
kindlin
functions
in
vertebrate
development
.
Diseases
Validation
Diseases presenting
"partial paralysis at tailbud stages but these embryos recovered eventually as morpholino levels decayed"
symptom
kindler syndrome
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