Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.
[oculocutaneous albinism]
The
basic-
helix
-loop-
helix
-leucine
zipper
(
bHLHZip
)
protein
MITF
(
microphthalmia-associated
transcription
factor
)
is
a
master
regulator
of
melanocyte
development
.
Mutations
in
the
MITF
have
been
found
in
patients
with
the
dominantly
inherited
hypopigmentation
and
deafness
syndromes
Waardenburg
syndrome
type
2
A
(
WS
2
A
)
and
Tietz
syndrome
(
TS
)
.
Additionally
,
both
somatic
and
germline
mutations
have
been
found
in
MITF
in
melanoma
patients
.
Here
,
we
characterize
the
DNA-binding
and
transcription
activation
properties
of
24
MITF
mutations
found
in
WS
2
A
,
TS
and
melanoma
patients
.
We
show
that
most
of
the
WS
2
A
and
TS
mutations
fail
to
bind
DNA
and
activate
expression
from
melanocyte-
specific
promoters
.
Some
of
the
mutations
,
especially
R
203
K
and
S
298
P
,
exhibit
normal
activity
and
may
represent
neutral
variants
.
Mutations
found
in
melanomas
showed
normal
DNA-binding
and
minor
variations
in
transcription
activation
properties
;
some
showed
increased
potential
to
form
colonies
.
Our
results
provide
molecular
insights
into
how
mutations
in
a
single
gene
can
lead
to
such
different
phenotypes
.
Diseases
Validation
Diseases presenting
"single gene"
symptom
aromatase deficiency
cadasil
dentin dysplasia
dentinogenesis imperfecta
dystrophic epidermolysis bullosa
familial mediterranean fever
monosomy 21
oculocutaneous albinism
werner syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom