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Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci.
[dentin dysplasia]
Dentinogenesis
imperfecta
type
II
and
dentin
dysplasia
type
II
are
diseases
resulting
in
abnormal
dentin
formation
,
which
have
been
mapped
to
overlapping
regions
of
human
chromosome
4
q
defined
by
markers
D
4
S
2691
and
D
4
S
2692
(
6
.
6
cM
)
and
D
4
S
3291
and
SPP
1
(
14
.
1
cM
)
,
respectively
.
Recently
,
two
of
the
major
non-collagenous
proteins
of
dentin
,
dentin
sialoprotein
(
DSP
)
and
dentin
phosphoprotein
(
DPP
,
phosphophoryn
)
have
been
shown
to
be
encoded
by
a
single
gene
,
termed
dentin
sialophosphoprotein
(
DSPP
)
,
which
has
been
mapped
to
human
chromosome
4
.
The
purpose
of
this
study
was
to
perform
refined
mapping
of
DSPP
related
to
these
disease
loci
by
gene
content
mapping
,
as
well
as
to
place
the
DSPP
gene
on
the
physical
map
of
human
chromosome
4
by
sequence
tagged
site
(
STS
)
content
mapping
.
Human
genomic
DSPP
clones
were
isolated
,
and
gene
content
mapping
performed
with
specific
primers
for
dentin
matrix
protein
1
(
DMP
1
)
,
bone
sialoprotein
(
BSP
)
and
osteopontin
(
secreted
phosphoprotein
1
,
SPP
1
)
.
STS
content
mapping
was
then
performed
with
flanking
STS
markers
to
these
dentin
/
bone
gene
loci
.
Our
results
demonstrate
that
the
DSPP
and
DMP
1
genes
are
within
a
maximum
distance
of
110
kb
.
Both
DSPP
and
DMP-
1
have
been
placed
on
the
physical
map
of
human
chromosome
4
within
the
interval
defined
by
markers
D
4
S
564
and
D
4
S
1292
.
DSPP
is
thereby
strengthened
as
a
candidate
gene
for
both
DGI
-
II
and
DD-
II
.
Diseases
Validation
Diseases presenting
"which have been mapped to overlapping regions of human chromosome 4q defined by markers d4s2691 and d4s2692"
symptom
dentin dysplasia
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