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Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population.
[dentin dysplasia]
Dentin
phosphoprotein
(
DPP
)
is
the
most
abundant
non-collagenous
protein
in
dentin
,
which
is
highly
phosphorylated
and
plays
key
roles
in
dentin
biomineralization
.
The
aetiology
of
isolated
hereditary
dentin
disorders
in
most
affected
families
is
largely
unknown
and
the
association
between
DPP
and
dentin
disorders
has
not
been
well
established
.
This
study
aims
to
determine
whether
there
are
some
involvements
for
DPP
mutations
in
inherited
dentin
disorders
and
to
clarify
the
sequence
variation
patterns
of
DPP
in
normal
population
.
G
enomic
DNA
was
analysed
in
eight
families
with
hereditary
dentin
disorders
and
110
individuals
in
the
normal
population
.
The
full
coding
sequence
of
DPP
was
amplified
by
polymerase
chain
reaction
(
PCR
)
and
screened
for
mutations
and
variations
by
direct
sequencing
and
TOPO
TA-cloning
sequencing
.
F
ive
frameshift
mutations
in
DPP
coding
region
were
identified
in
five
of
the
eight
families
.
The
mutations
co
-segregated
with
the
disease
phenotypes
in
affected
families
and
were
not
found
in
220
control
chromosomes
.
In
the
normal
population
,
we
revealed
14
in
-frame
indels
(
insertion
/
deletion
)
,
six
non-synonymous
single
nucleotide
polymorphisms
(
SNPs
)
,
and
five
synonymous
SNPs
in
the
DPP
coding
region
.
These
variants
display
extensive
linkage
disequilibrium
and
constitute
a
total
of
15
haplotypes
with
three
predominant
haplotypes
in
the
investigated
normal
population
.
Our
data
provide
the
first
evidence
that
DPP
mutations
can
cause
hereditary
dentin
disorders
and
suggest
that
in
-frame
length
variations
and
missense
SNPs
in
DPP
have
no
obvious
pathogenetic
effects
on
dentin
formation
.
Diseases
Validation
Diseases presenting
"first evidence"
symptom
congenital adrenal hyperplasia
dentin dysplasia
esophageal adenocarcinoma
fabry disease
homocystinuria without methylmalonic aciduria
krabbe disease
liposarcoma
phenylketonuria
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