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Neural crest deletion of Dlx3 leads to major dentin defects through down-regulation of Dspp.
[dentin dysplasia]
During
development
,
Dlx
3
is
expressed
in
ectodermal
appendages
such
as
hair
and
teeth
.
Thus
far
,
the
evidence
that
Dlx
3
plays
a
crucial
role
in
tooth
development
comes
from
reports
showing
that
autosomal
dominant
mutations
in
DLX
3
result
in
severe
enamel
and
dentin
defects
leading
to
abscesses
and
infections
.
However
,
the
normal
function
of
DLX
3
in
odontogenesis
remains
unknown
.
Here
,
we
use
a
mouse
model
to
demonstrate
that
the
absence
of
Dlx
3
in
the
neural
crest
results
in
major
impairment
of
odontoblast
differentiation
and
dentin
production
.
Mutant
mice
develop
brittle
teeth
with
hypoplastic
dentin
and
molars
with
an
enlarged
pulp
chamber
and
underdeveloped
roots
.
Using
this
mouse
model
,
we
found
that
dentin
sialophosphoprotein
(
Dspp
)
,
a
major
component
of
the
dentin
matrix
,
is
strongly
down-regulated
in
odontoblasts
lacking
Dlx
3
.
Using
ChIP-seq
,
we
further
demonstrate
the
direct
binding
of
Dlx
3
to
the
Dspp
promoter
in
vivo
.
Luciferase
reporter
assays
determined
that
Dlx
3
positively
regulates
Dspp
expression
.
This
establishes
a
regulatory
pathway
where
the
transcription
factor
Dlx
3
is
essential
in
dentin
formation
by
directly
regulating
a
crucial
matrix
protein
.
Diseases
Validation
Diseases presenting
"molars with an enlarged pulp chamber and underdeveloped roots"
symptom
dentin dysplasia
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