Annals of the Rheumatic Diseases,
Journal Year:
2024,
Volume and Issue:
83(8), P. 1048 - 1059
Published: March 13, 2024
Osteoarthritis
is
a
complex
disease
with
huge
public
health
burden.
Genome-wide
association
studies
(GWAS)
have
identified
hundreds
of
osteoarthritis-associated
sequence
variants,
but
the
effector
genes
underpinning
these
signals
remain
largely
elusive.
Understanding
chromosome
organisation
in
three-dimensional
(3D)
space
essential
for
identifying
long-range
contacts
between
distant
genomic
features
(e.g.,
and
regulatory
elements),
tissue-specific
manner.
Here,
we
generate
first
whole
genome
conformation
analysis
(Hi-C)
map
primary
osteoarthritis
chondrocytes
identify
novel
candidate
disease.
Nature Communications,
Journal Year:
2023,
Volume and Issue:
14(1)
Published: Dec. 13, 2023
Abstract
There
is
currently
little
information
about
the
evolution
of
gene
clusters,
genome
architectures
and
karyotypes
in
early
branching
animals.
Slowly
evolving
anthozoan
cnidarians
can
be
particularly
informative
these
features.
Here
we
report
chromosome-level
assemblies
two
related
anthozoans,
sea
anemones
Nematostella
vectensis
Scolanthus
callimorphus
.
We
find
a
robust
set
15
chromosomes
with
clear
one-to-one
correspondence
between
species.
Both
genomes
show
chromosomal
conservation,
allowing
us
to
reconstruct
ancestral
cnidarian
metazoan
blocks,
consisting
at
least
19
16
linkage
groups,
respectively.
that,
contrast
Bilateria,
Hox
NK
clusters
investigated
are
largely
disintegrated,
despite
presence
staggered
hox/gbx
expression
This
loss
microsynteny
conservation
may
facilitated
by
shorter
distances
cis-regulatory
sequences
their
cognate
transcriptional
start
sites.
no
evidence
for
topologically
associated
domains,
suggesting
fundamental
differences
long-range
regulation
compared
vertebrates.
These
data
suggest
that
large
sets
genes
have
been
retained
groups
some
extant
lineages;
yet,
higher
order
3D
architecture
evolved
only
after
cnidarian-bilaterian
split.
Nature Communications,
Journal Year:
2023,
Volume and Issue:
14(1)
Published: March 6, 2023
Abstract
Canonical
three-dimensional
(3D)
genome
structures
represent
the
ensemble
average
of
pairwise
chromatin
interactions
but
not
single-allele
topologies
in
populations
cells.
Recently
developed
Pore-C
can
capture
multiway
contacts
that
reflect
regional
single
chromosomes.
By
carrying
out
high-throughput
Pore-C,
we
reveal
extensive
regionally
restricted
clusters
aggregate
into
canonical
3D
two
human
cell
types.
We
show
fragments
multi-contact
reads
generally
coexist
same
TAD.
In
contrast,
a
concurrent
significant
proportion
span
multiple
compartments
type
over
megabase
distances.
Synergistic
looping
between
sites
is
rare
compared
to
interactions.
Interestingly,
topology
are
type-specific
even
inside
highly
conserved
TADs
different
types
summary,
HiPore-C
enables
global
characterization
at
an
unprecedented
depth
elusive
folding
principles.
Nature Methods,
Journal Year:
2023,
Volume and Issue:
20(7), P. 1037 - 1047
Published: June 19, 2023
Abstract
Technology
for
measuring
3D
genome
topology
is
increasingly
important
studying
gene
regulation,
assembly
and
mapping
of
rearrangements.
Hi-C
other
ligation-based
methods
have
become
routine
but
specific
biases.
Here,
we
develop
multiplex-GAM,
a
faster
more
affordable
version
architecture
(GAM),
ligation-free
technique
that
maps
chromatin
contacts
genome-wide.
We
perform
detailed
comparison
multiplex-GAM
using
mouse
embryonic
stem
cells.
When
examining
the
strongest
detected
by
either
method,
find
only
one-third
these
are
shared.
The
specifically
found
in
GAM
often
involve
‘active’
regions,
including
many
transcribed
genes
super-enhancers,
whereas
they
contain
‘inactive’
regions.
Our
work
shows
active
genomic
regions
involved
extensive
complex
currently
underestimated
approaches,
highlights
need
orthogonal
advances
genome-wide
contact
technologies.
Cell Reports,
Journal Year:
2024,
Volume and Issue:
43(1), P. 113663 - 113663
Published: Jan. 1, 2024
The
transcription
factor
ZNF143
contains
a
central
domain
of
seven
zinc
fingers
in
tandem
array
and
is
involved
3D
genome
construction.
However,
the
mechanism
by
which
functions
chromatin
looping
remains
unclear.
Here,
we
show
that
directionally
recognizes
diverse
range
genomic
sites
directly
within
enhancers
promoters
required
for
between
these
sites.
In
addition,
located
CTCF
cohesin
at
numerous
sites,
removal
narrows
space
cohesin.
Moreover,
genetic
deletion
ZNF143,
conjunction
with
acute
degradation,
reveals
collaborate
to
regulate
higher-order
topological
organization.
Finally,
depletion
enlarges
direct
looping.
Thus,
recruited
CTCF/cohesin
configuration
TAD
(topologically
associating
domain)
formation,
whereas
directional
recognition
DNA
motifs
itself
regulates
promoter
activity
via
Annals of the Rheumatic Diseases,
Journal Year:
2024,
Volume and Issue:
83(8), P. 1048 - 1059
Published: March 13, 2024
Osteoarthritis
is
a
complex
disease
with
huge
public
health
burden.
Genome-wide
association
studies
(GWAS)
have
identified
hundreds
of
osteoarthritis-associated
sequence
variants,
but
the
effector
genes
underpinning
these
signals
remain
largely
elusive.
Understanding
chromosome
organisation
in
three-dimensional
(3D)
space
essential
for
identifying
long-range
contacts
between
distant
genomic
features
(e.g.,
and
regulatory
elements),
tissue-specific
manner.
Here,
we
generate
first
whole
genome
conformation
analysis
(Hi-C)
map
primary
osteoarthritis
chondrocytes
identify
novel
candidate
disease.