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ATP8B1 gene expression is driven by a housekeeping-like promoter independent of bile acids and farnesoid X receptor.
[benign recurrent intrahepatic cholestasis]
Mutations
in
ATP
8
B
1
gene
were
identified
as
a
cause
of
low
γ-glutamyltranspeptidase
cholestasis
with
variable
phenotype
,
ranging
from
Progressive
Familial
Intrahepatic
Cholestasis
to
Benign
Recurrent
Intrahepatic
Cholestasis
.
However
,
only
the
coding
region
of
ATP
8
B
1
has
been
described
.
The
aim
of
this
research
was
to
explore
the
regulatory
regions
,
promoter
and
5
'
untranslated
region
,
of
the
ATP
8
B
1
gene
.
5
'
Rapid
Amplification
of
cDNA
Ends
using
human
liver
and
intestinal
tissue
was
performed
to
identify
the
presence
of
5
'
untranslated
exons
.
Expression
levels
of
ATP
8
B
1
transcripts
were
determined
by
quantitative
reverse-transcription
PCR
and
compared
with
the
non-variable
part
of
ATP
8
B
1
.
Three
putative
promoters
were
examined
in
vitro
using
a
reporter
gene
assay
and
the
main
promoter
was
stimulated
with
chenodeoxycholic
acid
.
Four
novel
untranslated
exons
located
up
to
71
kb
upstream
of
the
previously
published
exon
1
and
twelve
different
splicing
variants
were
found
both
in
the
liver
and
the
intestine
.
Multiple
transcription
start
sites
were
identified
within
exon
-
3
and
the
proximal
promoter
upstream
of
this
transcription
start
site
cluster
was
proven
to
be
an
essential
regulatory
element
responsible
for
70
%
of
total
ATP
8
B
1
transcriptional
activity
.
In
vitro
analysis
demonstrated
that
the
main
promoter
drives
constitutive
ATP
8
B
1
gene
expression
independent
of
bile
acids
.
The
structure
of
the
ATP
8
B
1
gene
is
complex
and
the
previously
published
transcription
start
site
is
not
significant
.
The
basal
expression
of
ATP
8
B
1
is
driven
by
a
housekeeping-like
promoter
located
71
kb
upstream
of
the
first
protein
coding
exon
.
Diseases
Validation
Diseases presenting
"cholestasis"
symptom
benign recurrent intrahepatic cholestasis
carcinoma of the gallbladder
congenital toxoplasmosis
erythropoietic protoporphyria
familial mediterranean fever
megacystis-microcolon-intestinal hypoperistalsis syndrome
neonatal adrenoleukodystrophy
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated
