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Distinct tissue-specific requirements for the zebrafish tbx5 genes during heart, retina and pectoral fin development.
[holt-oram syndrome]
The
transcription
factor
Tbx
5
is
expressed
in
the
developing
heart
,
eyes
and
anterior
appendages
.
Mutations
in
human
TBX
5
cause
Holt-
Oram
syndrome
,
a
condition
characterized
by
heart
and
upper
limb
malformations
.
Tbx
5
-
knockout
mouse
embryos
have
severely
impaired
forelimb
and
heart
morphogenesis
from
the
earliest
stages
of
their
development
.
However
,
zebrafish
embryos
with
compromised
tbx
5
function
show
a
complete
absence
of
pectoral
fins
,
while
heart
development
is
disturbed
at
significantly
later
developmental
stages
and
eye
development
remains
to
be
thoroughly
analysed
.
We
identified
a
novel
tbx
5
gene
in
zebrafish--tbx
5
b
--that
is
co
-expressed
with
its
paralogue
,
tbx
5
a
,
in
the
developing
eye
and
heart
and
hypothesized
that
functional
redundancy
could
be
occurring
in
these
organs
in
embryos
with
impaired
tbx
5
a
function
.
We
have
now
investigated
the
consequences
of
tbx
5
a
and
/
or
tbx
5
b
downregulation
in
zebrafish
to
reveal
that
tbx
5
genes
have
essential
roles
in
the
establishment
of
cardiac
laterality
,
dorsoventral
retina
axis
organization
and
pectoral
fin
development
.
Our
data
show
that
distinct
relationships
between
tbx
5
paralogues
are
required
in
a
tissue-
specific
manner
to
ensure
the
proper
morphogenesis
of
the
three
organs
in
which
they
are
expressed
.
Furthermore
,
we
uncover
a
novel
role
for
tbx
5
genes
in
the
establishment
of
correct
heart
asymmetry
in
zebrafish
embryos
.
Diseases
Validation
Diseases presenting
"limb malformations"
symptom
holt-oram syndrome
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