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The testis anion transporter TAT1 (SLC26A8) physically and functionally interacts with the cystic fibrosis transmembrane conductance regulator channel: a potential role during sperm capacitation.
[pendred syndrome]
The
Slc
26
gene
family
encodes
several
conserved
anion
transporters
implicated
in
human
genetic
disorders
,
including
Pendred
syndrome
,
diastrophic
dysplasia
and
congenital
chloride
diarrhea
.
We
previously
characterized
the
TAT
1
(
testis
anion
transporter
1
;
SLC
26
A
8
)
protein
specifically
expressed
in
male
germ
cells
and
mature
sperm
and
showed
that
in
the
mouse
,
deletion
of
Tat
1
caused
male
sterility
due
to
a
lack
of
sperm
motility
,
impaired
sperm
capacitation
and
structural
defects
of
the
flagella
.
Ca
(
2
+
)
,
Cl
(
-
)
and
HCO
(
3
)
(
-
)
influxes
trigger
sperm
capacitation
events
required
for
oocyte
fertilization
;
these
events
include
the
intracellular
rise
of
cyclic
adenosine
monophosphate
(
cAMP
)
and
protein
kinase
A
(
PKA
)
-
dependent
protein
phosphorylation
.
The
cystic
fibrosis
transmembrane
conductance
regulator
(
CFTR
)
is
expressed
in
mature
sperm
and
has
been
shown
to
contribute
to
Cl
(
-
)
and
HCO
(
3
)
(
-
)
movements
during
capacitation
.
Furthermore
,
several
members
of
the
SLC
26
family
have
been
described
to
form
complexes
with
CFTR
,
resulting
in
the
reciprocal
regulation
of
their
activities
.
We
show
here
that
TAT
1
and
CFTR
physically
interact
and
that
in
Xenopus
laevis
oocytes
and
in
CHO
-K
1
cells
,
TAT
1
expression
strongly
stimulates
CFTR
activity
.
Consistent
with
this
,
we
show
that
Tat
1
inactivation
in
mouse
sperm
results
in
deregulation
of
the
intracellular
cAMP
content
,
preventing
the
activation
of
PKA-dependent
downstream
phosphorylation
cascades
essential
for
sperm
activation
.
These
various
results
suggest
that
TAT
1
and
CFTR
may
form
a
molecular
complex
involved
in
the
regulation
of
Cl
(
-
)
and
HCO
(
3
)
(
-
)
fluxes
during
sperm
capacitation
.
In
humans
,
mutations
in
CFTR
and
/
or
TAT
1
may
therefore
be
causes
of
asthenozoospermia
and
low
fertilizing
capacity
of
sperm
.
Diseases
Validation
Diseases presenting
"diarrhea"
symptom
acute rheumatic fever
adrenomyeloneuropathy
benign recurrent intrahepatic cholestasis
cutaneous mastocytosis
esophageal carcinoma
fabry disease
familial mediterranean fever
hirschsprung disease
kabuki syndrome
legionellosis
lymphangioleiomyomatosis
omenn syndrome
pendred syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
scrub typhus
systemic capillary leak syndrome
triple a syndrome
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
wiskott-aldrich syndrome
This symptom has already been validated
