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Disrupted SOX10 function causes spongiform neurodegeneration in gray tremor mice.
[hirschsprung disease]
Mice
homozygous
for
the
gray
tremor
(
gt
)
mutation
have
a
pleiotropic
phenotype
that
includes
pigmentation
defects
,
megacolon
,
whole
body
tremors
,
sporadic
seizures
,
hypo-
and
dys-myelination
of
the
central
nervous
system
(
CNS
)
and
peripheral
nervous
system
,
vacuolation
of
the
CNS
,
and
early
death
.
Vacuolation
similar
to
that
caused
by
prions
was
originally
reported
to
be
transmissible
,
but
subsequent
studies
showed
the
inherited
disease
was
not
infectious
.
The
gt
mutation
mapped
to
distal
mouse
chromosome
15
,
to
the
same
region
as
Sox
10
,
which
encodes
a
transcription
factor
with
essential
roles
in
neural
crest
survival
and
differentiation
.
As
dominant
mutations
in
mouse
or
human
SOX
10
cause
white
spotting
and
intestinal
aganglionosis
,
we
screened
the
Sox
10
coding
region
for
mutations
in
gt
/
gt
DNA
.
An
adenosine
to
guanine
transversion
was
identified
in
exon
2
that
changes
a
highly
conserved
glutamic
acid
residue
in
the
SOX
10
DNA
binding
domain
to
glycine
.
This
mutant
allele
was
not
seen
in
wildtype
mice
,
including
the
related
GT
/
Le
strain
,
and
failed
to
complement
a
Sox
10
null
allele
.
Gene
expression
analysis
revealed
significant
down-regulation
of
genes
involved
in
myelin
lipid
biosynthesis
pathways
in
gt
/
gt
brains
.
Knockout
mice
for
some
of
these
genes
develop
CNS
vacuolation
and
/
or
myelination
defects
,
suggesting
that
their
down-regulation
may
contribute
to
these
phenotypes
in
gt
mutants
and
could
underlie
the
neurological
phenotypes
associated
with
peripheral
demyelinating
neuropathy
-
central
dysmyelinating
leukodystrophy
-
Waardenburg
syndrome
-
Hirschsprung
disease
,
caused
by
mutations
in
human
SOX
10
.
Diseases
Validation
Diseases presenting
"but subsequent studies showed the inherited disease was not infectious"
symptom
hirschsprung disease
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