Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Molecular cloning and characterization of AAAS-V2, a novel splice variant of human AAAS.
[triple a syndrome]
Triple-
A
syndrome
(
MIM
231550
;
also
known
as
Allgrove
syndrome
)
is
an
autosomal
recessive
disorder
characterized
by
adrenocorticotropin
hormone
(
ACTH
)
-
resistant
adrenal
insufficiency
,
achalasia
of
the
oesophageal
cardia
and
alacrima
.
Much
initial
molecular
analysis
supported
that
Triple-
A
syndrome
was
caused
by
mutations
in
AAAS
,
a
WD-repeat
protein
gene
.
Here
we
report
cloning
and
characterization
of
a
novel
splice
variant
of
human
AAAS
,
which
we
named
AAAS
-v
2
,
which
is
located
on
the
human
chromosome
12
p
13
.
The
cDNA
is
1703
bp
,
encoding
a
513
-
amino
acid
polypeptide
,
which
contains
three
WD
40
domains
,
one
less
than
the
original
which
we
called
AAAS
-v
1
(
Gen
Bank
:
NM
_
015665
.
3
)
.
RT-PCR
analysis
in
our
work
revealed
that
AAAS
-v
2
and
AAAS
-v
1
were
ubiquitously
detected
in
human
multiple
tissue
cDNA
(
MTC
)
panels
(
CLONTECH
)
.