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TSHZ1-dependent gene regulation is essential for olfactory bulb development and olfaction.
[kallmann syndrome]
The
olfactory
bulb
(
OB
)
receives
odor
information
from
the
olfactory
epithelium
and
relays
this
to
the
olfactory
cortex
.
Using
a
mouse
model
,
we
found
that
development
and
maturation
of
OB
interneurons
depends
on
the
zinc
finger
homeodomain
factor
teashirt
zinc
finger
family
member
1
(
TSHZ
1
)
.
In
mice
lacking
TSHZ
1
,
neuroblasts
exhibited
a
normal
tangential
migration
to
the
OB
;
however
,
upon
arrival
to
the
OB
,
the
neuroblasts
were
distributed
aberrantly
within
the
radial
dimension
,
and
many
immature
neuroblasts
failed
to
exit
the
rostral
migratory
stream
.
Conditional
deletion
of
Tshz
1
in
mice
resulted
in
OB
hypoplasia
and
severe
olfactory
deficits
.
We
therefore
investigated
olfaction
in
human
subjects
from
families
with
congenital
aural
atresia
that
were
heterozygous
for
TSHZ
1
loss
-of-function
mutations
.
These
individuals
displayed
hyposmia
,
which
is
characterized
by
impaired
odor
discrimination
and
reduced
olfactory
sensitivity
.
Microarray
analysis
,
in
situ
hybridization
,
and
ChIP
revealed
that
TSHZ
1
bound
to
and
regulated
expression
of
the
gene
encoding
prokineticin
receptor
2
(
PROKR
2
)
,
a
G
protein
–coupled
receptor
essential
for
OB
development
.
Mutations
in
PROKR
2
lead
to
Kallmann
syndrome
,
characterized
by
anosmia
and
hypogonadotrophic
hypogonadism
.
Our
data
indicate
that
TSHZ
1
is
a
key
regulator
of
mammalian
OB
development
and
function
and
controls
the
expression
of
molecules
involved
in
human
Kallmann
syndrome
.
Diseases
Validation
Diseases presenting
"radial dimension"
symptom
kallmann syndrome
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