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Identification and characterisation of the developmental expression pattern of tbx5b, a novel tbx5 gene in zebrafish.
[holt-oram syndrome]
Tbx
5
is
a
T
-
box
transcription
factor
that
has
been
characterised
in
most
vertebrate
lineages
and
is
widely
expressed
during
the
development
of
various
embryonic
structures
,
including
the
heart
,
the
eyes
and
the
anterior
set
of
paired
appendages
(
tetrapod
forelimbs
and
fish
pectoral
fins
)
.
Mutations
in
TBX
5
cause
Holt-
Oram
syndrome
,
an
autosomal
dominant
human
"
heart
-
hand
"
condition
characterised
by
upper
limb
and
heart
malformations
.
In
zebrafish
,
embryos
with
compromised
tbx
5
function
show
a
complete
absence
of
pectoral
fins
,
whereas
heart
and
eye
development
are
not
so
highly
disturbed
.
Here
,
we
identify
a
new
tbx
5
gene
in
zebrafish
that
we
have
called
tbx
5
b
.
This
duplicate
gene
is
present
in
all
teleost
genomes
whose
sequence
is
available
,
suggesting
it
resulted
from
the
teleost-
specific
genome
duplication
event
that
took
place
during
fish
evolution
.
We
show
that
tbx
5
b
has
lost
the
characteristic
forelimb
/
pectoral
fin
expression
of
Tbx
5
genes
but
has
retained
the
eye
and
heart
expression
,
partially
overlapping
with
that
of
its
paralogue
,
now
referred
to
as
tbx
5
a
.
Functional
redundancy
of
tbx
5
a
and
tbx
5
b
in
the
eye
and
heart
would
therefore
explain
the
mild
phenotypes
observed
during
development
of
these
organs
in
fish
embryos
with
compromised
tbx
5
a
function
.