Endogenous retroviruses mediate transcriptional rewiring in response to oncogenic signaling in colorectal cancer
Science Advances,
Год журнала:
2024,
Номер
10(29)
Опубликована: Июль 17, 2024
Cancer
cells
exhibit
rewired
transcriptional
regulatory
networks
that
promote
tumor
growth
and
survival.
However,
the
mechanisms
underlying
formation
of
these
pathological
remain
poorly
understood.
Through
a
pan-cancer
epigenomic
analysis,
we
found
primate-specific
endogenous
retroviruses
(ERVs)
are
rich
source
enhancers
displaying
cancer-specific
activity.
In
colorectal
cancer
other
epithelial
tumors,
oncogenic
MAPK/AP1
signaling
drives
activation
derived
from
ERV
family
LTR10.
Functional
studies
in
revealed
LTR10
elements
regulate
tumor-specific
expression
multiple
genes
associated
with
tumorigenesis,
such
as
ATG12
XRCC4
.
Within
human
population,
individual
germline
somatic
structural
variation
resulting
highly
mutable
internal
tandem
repeat
region,
which
affects
AP1
binding
Our
findings
reveal
ERV-derived
contribute
to
dysregulation
response
shape
evolution
networks.
Язык: Английский
A comprehensive tandem repeat catalog of the human genome
medRxiv (Cold Spring Harbor Laboratory),
Год журнала:
2024,
Номер
unknown
Опубликована: Июнь 20, 2024
With
the
increasing
availability
of
long-read
sequencing
data,
high-quality
human
genome
assemblies,
and
software
for
fully
characterizing
tandem
repeats,
genome-wide
genotyping
repeat
loci
on
a
population
scale
becomes
more
feasible.
Such
efforts
not
only
expand
our
knowledge
landscape
in
but
also
enhance
ability
to
differentiate
pathogenic
mutations
from
benign
polymorphisms.
To
this
end,
we
analyzed
272
genomes
assembled
using
datasets
three
public
initiatives
that
employed
different
technologies.
Here,
report
catalog
over
18
million
loci,
many
which
were
previously
unannotated.
Some
these
are
highly
polymorphic,
them
reside
within
coding
sequences.
Язык: Английский
Disco‐Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder
Movement Disorders,
Год журнала:
2025,
Номер
unknown
Опубликована: Янв. 24, 2025
Abstract
Background
Trinucleotide
repeat
expansions
are
an
emerging
class
of
genetic
variants
associated
with
various
movement
disorders.
Unbiased
genome‐wide
analyses
can
reveal
novel
genotype–phenotype
associations
and
provide
a
diagnosis
for
patients
families.
Objective
The
aim
was
to
identify
the
cause
severe
progressive
disorder
phenotype
in
2
affected
brothers.
Methods
A
family
brothers
unaffected
parents
had
extensive
phenotyping
since
birth.
Whole‐genome
long‐read
sequencing
methods
characterized
methylation
status.
Results
Two
male
siblings
CGG
expansion
5′‐untranslated
region
(UTR)
disco‐interacting
protein
homolog
B
(
DIP2B
)
presented
phenotype,
including
neurodevelopmental
disability,
dysmorphic
traits,
(chorea,
dystonia,
ataxia).
Conclusions
This
is
first
report
5′‐UTR.
©
2025
International
Parkinson
Movement
Disorder
Society.
article
has
been
contributed
by
U.S.
Government
employees
their
work
public
domain
USA.
Язык: Английский
DIP2B CGG repeat expansion in siblings with neurodevelopmental disability and progressive movement disorder
medRxiv (Cold Spring Harbor Laboratory),
Год журнала:
2024,
Номер
unknown
Опубликована: Июнь 5, 2024
Abstract
Background
Trinucleotide
repeat
expansions
are
an
emerging
class
of
genetic
variants
associated
with
several
movement
disorders.
Unbiased
genome-wide
analyses
can
reveal
novel
genotype-phenotype
associations
and
provide
a
diagnosis
for
patients
families.
Objectives
To
identify
the
cause
severe
progressive
disorder
phenotype
in
two
affected
brothers.
Methods
A
family
brothers
unaffected
parents
had
extensive
phenotyping
natural
history
followed
since
birth.
Whole-genome
long-read
sequencing
methods
were
used
to
characterize
methylation
status.
Results:
We
describe
CGG
expansion
5’-untranslated
region
DIP2B
male
siblings
presenting
including
neurodevelopmental
disability,
dysmorphic
traits,
(prominent
chorea,
dystonia,
ataxia).
Conclusions
This
is
first
report
attributed
5’-UTR.
Язык: Английский
Genetic Analysis of GCA Repeats in the GLS Gene: Implications for Undiagnosed Ataxia and Spinocerebellar Ataxia 3 in Mainland China
Movement Disorders,
Год журнала:
2024,
Номер
unknown
Опубликована: Дек. 19, 2024
Recent
studies
have
reported
that
expanded
GCA
repeats
in
the
GLS
gene
can
cause
glutaminase
deficiency
with
ataxia
phenotype.
However,
to
data,
no
investigated
distribution
and
role
of
Chinese
individuals.
The
aim
was
investigate
individuals,
including
undiagnosed
patients
for
identifying
causal
factors,
healthy
controls
determining
normal
range,
ATX-ATXN3
(spinocerebellar
type
3,
SCA3)
exploring
genetic
modifiers.
We
combined
whole-genome
sequencing
(WGS),
repeat-primed
polymerase
chain
reaction,
capillary
electrophoresis
(RP-PCR/CE),
ExpansionHunter
screen
349
1505
controls,
1236
(SCA3)
from
mainland
China.
No
were
detected
across
any
samples.
average
number
11
(range:
8-31),
12
6-33),
6-33)
patients,
SCA3
respectively.
intermediate
repeat
size
(9
<
≤
13)
nonexpanded
allele
associated
later
disease
onset
patients.
Abnormal
expansions
are
rare
population.
intermediate-length
sizes
may
influence
age
at
(AAO)
©
2024
International
Parkinson
Movement
Disorder
Society.
Язык: Английский