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A random Abstract
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KMT2D maintains neoplastic cell proliferation and global histone H3 lysine 4 monomethylation.
[kabuki syndrome]
KMT
2
D
(
lysine
(
K
)
-
specific
methyltransferase
2
D
)
,
formerly
named
MLL
2
(
myeloid
/
lymphoid
or
mixed
-lineage
leukemia
2
,
also
known
as
ALR
/
MLL
4
)
,
is
a
histone
methyltransferase
that
plays
an
important
role
in
regulating
gene
transcription
.
In
particular
,
it
targets
histone
H
3
lysine
4
(
H
3
K
4
)
,
whose
methylations
serve
as
a
gene
activation
mark
.
Recently
,
KMT
2
D
has
emerged
as
one
of
the
most
frequently
mutated
genes
in
a
variety
of
cancers
and
in
other
human
diseases
,
including
lymphoma
,
medulloblastoma
,
gastric
cancer
,
and
Kabuki
syndrome
.
Mutations
in
KMT
2
D
identified
thus
far
point
to
its
loss
-of-function
in
pathogenesis
and
suggest
its
role
as
a
tumor
suppressor
in
various
tissues
.
To
determine
the
effect
of
a
KMT
2
D
deficiency
on
neoplastic
cells
,
we
used
homologous
recombination-
and
nuclease-mediated
gene
editing
approaches
to
generate
a
panel
of
isogenic
colorectal
and
medulloblastoma
cancer
cell
lines
that
differ
with
respect
to
their
endogenous
KMT
2
D
status
.
We
found
that
a
KMT
2
D
deficiency
resulted
in
attenuated
cancer
cell
proliferation
and
defective
cell
migration
.
Analysis
of
histone
H
3
modifications
revealed
that
KMT
2
D
was
essential
for
maintaining
the
level
of
global
H
3
K
4
monomethylation
and
that
its
enzymatic
SET
domain
was
directly
responsible
for
this
function
.
Furthermore
,
we
found
that
a
majority
of
KMT
2
D
binding
sites
are
located
in
regions
of
potential
enhancer
elements
.
Together
,
these
findings
revealed
the
role
of
KMT
2
D
in
regulating
enhancer
elements
in
human
cells
and
shed
light
on
the
tumorigenic
role
of
its
deficiency
.
Our
study
supports
that
KMT
2
D
has
distinct
roles
in
neoplastic
cells
,
as
opposed
to
normal
cells
,
and
that
inhibiting
KMT
2
D
may
be
a
viable
strategy
for
cancer
therapeutics
.
Diseases
Validation
Diseases presenting
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated