Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Our Team
Translational control of SEPT9 isoforms is perturbed in disease.
[neuralgic amyotrophy]
A
common
feature
of
the
mammalian
septin
gene
family
is
complex
genomic
architecture
with
multiple
alternate
splice
variants
.
Septin
9
has
18
distinct
transcripts
encoding
15
polypeptides
,
with
two
transcripts
(
SEPT
9
_
v
4
and
v
4
*
)
encoding
the
same
polypeptide
.
We
have
previously
reported
that
the
ratio
of
these
distinct
transcripts
is
altered
in
neoplasia
,
with
the
v
4
transcript
being
the
usual
form
in
normal
cells
but
v
4
*
becoming
predominant
in
tumours
.
This
led
us
to
ask
what
the
functional
differences
between
these
two
transcripts
might
be
.
The
5
'
-
UTRs
of
v
4
and
v
4
*
have
distinct
5
'
ends
encoded
by
exons
1
beta
(
v
4
)
and
1
zeta
and
2
(
v
4
*
)
and
a
common
3
'
region
and
initiating
ATG
encoded
within
exon
3
.
Here
we
show
that
the
two
mRNAs
are
translated
with
different
efficiencies
and
that
cellular
stress
can
alter
this
.
A
putative
internal
ribosome
entry
site
can
be
identified
in
the
common
region
of
the
v
4
and
v
4
*
5
'
-
UTRs
and
translation
is
modulated
by
an
upstream
open
-reading
frame
in
the
unique
region
of
the
v
4
5
'
-
UTR
.
Germline
mutations
in
hereditary
neuralgic
amyotrophy
(
HNA
)
map
to
the
region
which
is
common
to
the
two
UTRs
.
These
mutations
dramatically
enhance
the
translational
efficiency
of
the
v
4
5
'
-
UTR
,
leading
to
elevated
SEPT
9
_
v
4
protein
under
hypoxic
conditions
.
Our
data
provide
a
mechanistic
insight
into
how
the
HNA
mutations
can
alter
the
fine
control
of
SEPT
9
_
v
4
protein
and
its
regulation
under
physiologically
relevant
conditions
and
are
consistent
with
the
episodic
and
stress-induced
nature
of
the
clinical
features
of
HNA
.
Diseases
Validation
Diseases presenting
"neoplasia"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
aniridia
carcinoma of the gallbladder
cholangiocarcinoma
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
hodgkin lymphoma, classical
liposarcoma
lymphangioleiomyomatosis
neuralgic amyotrophy
oligodontia
oral submucous fibrosis
pleomorphic liposarcoma
primary effusion lymphoma
pyomyositis
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
This symptom has already been validated
