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A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene.
[dentin dysplasia]
Within
nine
dentin
dysplasia
(
DD
)
(
type
II
)
and
dentinogenesis
imperfecta
(
type
II
and
III
)
patient
/
families
,
seven
have
1
of
4
net
-
1
deletions
within
the
approximately
2
-
kb
coding
repeat
domain
of
the
DSPP
gene
while
the
remaining
two
patients
have
splice-site
mutations
.
All
frameshift
mutations
are
predicted
to
change
the
highly
soluble
DSPP
protein
into
proteins
with
long
hydrophobic
amino
acid
repeats
that
could
interfere
with
processing
of
normal
DSPP
and
/
or
other
secreted
matrix
proteins
.
We
propose
that
all
previously
reported
missense
,
nonsense
,
and
splice-site
DSPP
mutations
(
all
associated
with
exons
2
and
3
)
result
in
dominant
phenotypes
due
to
disruption
of
signal
peptide-processing
and
/
or
related
biochemical
events
that
also
result
in
interference
with
protein
processing
.
This
would
bring
the
currently
known
dominant
forms
of
the
human
disease
phenotype
in
agreement
with
the
normal
phenotype
of
the
heterozygous
null
Dspp
(
-
/
+
)
mice
.
A
study
of
188
normal
human
chromosomes
revealed
a
hypervariable
DSPP
repeat
domain
with
extraordinary
rates
of
change
including
20
slip-replication
indel
events
and
37
predominantly
C-
to
-
T
transition
SNPs
.
The
most
frequent
transition
in
the
primordial
9
-
basepair
(
bp
)
DNA
repeat
was
a
sense-strand
CpG
site
while
a
CpNpG
(
CAG
)
transition
was
the
second
most
frequent
SNP
.
Bisulfite-sequencing
of
genomic
DNA
showed
that
the
DSPP
repeat
can
be
methylated
at
both
motifs
.
This
suggests
that
,
like
plants
and
some
animals
,
humans
methylate
some
CpNpG
sequences
.
Analysis
of
37
haplotypes
of
the
highly
variable
DSPP
gene
from
geographically
diverse
people
suggests
it
may
be
a
useful
autosomal
marker
in
human
migration
studies
.
Diseases
Validation
Diseases presenting
"currently known dominant forms of the human disease phenotype in agreement with the normal phenotype"
symptom
dentin dysplasia
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