Heliyon,
Год журнала:
2024,
Номер
10(23), С. e40686 - e40686
Опубликована: Ноя. 26, 2024
The
change
of
morphokinetic
pattern
in
aneuploid
embryos
will
facilitate
the
non-invasive
selection
euploid
embryos.
In
this
study,
we
investigated
impact
different
chromosomal
abnormalities
on
patterns
embryonic
development.
Cell stem cell,
Год журнала:
2023,
Номер
30(12), С. 1569 - 1584
Опубликована: Окт. 18, 2023
Studies
of
mammalian
development
have
advanced
our
understanding
the
genetic,
epigenetic,
and
cellular
processes
that
orchestrate
embryogenesis
uncovered
new
insights
into
unique
aspects
human
embryogenesis.
Recent
studies
now
produced
first
epigenetic
maps
early
embryogenesis,
stimulating
ideas
about
reprogramming,
cell
fate
control,
potential
mechanisms
underpinning
developmental
plasticity
in
embryos.
In
this
review,
we
discuss
these
regulation
importance
for
safeguarding
development.
We
also
highlight
unanswered
questions
key
challenges
remain
to
be
addressed.
Clinical Epigenetics,
Год журнала:
2024,
Номер
16(1)
Опубликована: Окт. 17, 2024
Epigenetic
modifications
control
gene
expression
and
are
essential
for
turning
genes
on
off
to
regulate
maintain
differentiated
cell
types.
Epigenetics
also
modified
by
a
multitude
of
environmental
exposures,
including
diet
pollutants,
allowing
an
individual's
environment
influence
resultant
phenotypes
clinical
outcomes.
These
epigenetic
due
gene-environment
interactions
can
be
transmitted
across
generations,
raising
the
possibility
that
influences
occurred
in
one
generation
may
beyond
second
generation,
exerting
long-lasting
effect.
In
this
review,
we
cover
known
mechanisms
modification
acquisition,
reprogramming
persistence,
animal
models
human
studies
used
understand
multigenerational
transmission,
examples
environmentally
induced
change
its
transmission
generations.
We
highlight
importance
health
not
only
current
population
but
future
generations
will
experience
outcomes
through
inheritance.
Clinical Epigenetics,
Год журнала:
2024,
Номер
16(1)
Опубликована: Авг. 1, 2024
Abstract
Background
Imprinting
disorders
are
rare
diseases
resulting
from
altered
expression
of
imprinted
genes,
which
exhibit
parent-of-origin-specific
patterns
regulated
through
differential
DNA
methylation.
A
subgroup
patients
with
imprinting
have
methylation
changes
at
multiple
loci,
a
condition
referred
to
as
multi-locus
disturbance
(MLID).
MLID
is
recognised
in
most
but
not
all
and
also
found
individuals
atypical
clinical
features;
the
presence
often
alters
management
or
prognosis
affected
person.
Some
cases
caused
by
trans-acting
genetic
variants,
frequently
their
mothers,
counselling
implications.
There
currently
no
consensus
on
definition
MLID,
indications
prompting
testing,
molecular
procedures
methods
for
epigenetic
diagnosis,
recommendations
laboratory
reporting,
considerations
counselling,
implications
management.
The
purpose
this
study
thus
cover
unmet
need.
Methods
comprehensive
literature
search
was
conducted
identification
more
than
100
articles
formed
basis
discussions
two
working
groups
focusing
diagnosis
(n
=
12
members)
testing
19
members).
Following
eight
months
preparations
regular
online
discussions,
experts
11
countries
compiled
preliminary
documentation
determined
questions
be
addressed
during
face-to-face
meeting
held
attendance
together
four
representatives
patient
advocacy
organisations.
Results
In
light
available
evidence
expert
consensus,
we
formulated
16
propositions
8
interim
guidance
MLID.
Conclusions
designation,
phenotypes,
propose
alternative
term
syndrome.
Due
intrinsic
variability
guidelines
underscore
importance
involving
various
fields
ensure
confident
approach
care.
authors
advocate
global,
collaborative
efforts
both
basic
translational
research
tackle
numerous
crucial
that
lack
answers,
suggest
reconvening
within
next
3–5
years
evaluate
advancements
update
needed.
Human Molecular Genetics,
Год журнала:
2025,
Номер
unknown
Опубликована: Янв. 17, 2025
Abstract
Genomic
imprinting
is
the
parent-of-origin
dependent
monoallelic
expression
of
genes
often
associated
with
regions
germline-derived
DNA
methylation
that
are
maintained
as
differentially
methylated
(gDMRs)
in
somatic
tissues.
This
form
epigenetic
regulation
highly
conserved
mammals
and
thought
to
have
co-evolved
placentation.
Tissue-specific
gDMRs
been
identified
human
placenta,
suggesting
species-specific
on
unorthodox
establishment
or
maintenance
may
be
more
widespread
than
previously
anticipated.
Non-canonical
imprinting,
reliant
differential
allelic
H3K27me3
enrichment,
has
reported
mouse
rat
pre-implantation
embryos,
overlapping
long
terminal
repeat
(LTR)-derived
promoters.
These
non-canonical
imprints
lose
parental
allele-specific
specificity,
subsequently
gaining
same
allele
extra-embryonic
tissues
resulting
placenta-specific,
somatically
acquired
maternal
DMRs.
To
determine
if
similar
present
we
interrogated
for
a
selected
number
loci,
including
(i)
orthologues
imprinted
rat,
(ii)
promoters
LTR-derived
transcripts,
(iii)
CpG
islands
intermediate
placenta-specific
unmethylated
gametes
embryos.
We
failed
identify
any
placenta
whole
villi
samples.
Furthermore,
assayed
were
shown
biallelically
expressed
indicating
they
not
at
earlier
time
points.
Together,
our
work
reiterates
continued
evolution
mammals,
which
suggest
linked
differences
during
maternal-to-embryo
transition
integration
retrotransposable
elements.
Frontiers in Cell and Developmental Biology,
Год журнала:
2025,
Номер
13
Опубликована: Фев. 6, 2025
In
mammalian
embryonic
development,
blastocyst
hatching
is
essential
for
normal
implantation
and
development
of
the
fetus.
We
reported
previously
that
blastocysts
out
zona
pellucida
(ZP)
exhibited
site
preferences
were
associated
with
pregnancy
outcomes.
To
characterize
these
differences,
we
analyzed
transcriptomes
in
following
developing
mouse
within
16
h
hatching:
expanding
(E),
from
A-site
(A),
B-site
(B),
C-site
(C),
hatched
(H),
non-hatching
(N).
By
principal
component
analysis
hierarchical
cluster
analysis,
determined
gene
expression
profiles
A
B
blastocysts,
which
resulted
good
fertility,
clustered
closely.
C
N
poor
closely,
but
distantly
B.
Embryos
at
B-
vs.
C-sites,
pregnancy,
showed
178
differentially
expressed
genes
(DEGs),
mainly
involved
immunity,
correlated
positively
birth
rate.
These
DEGs
primarily
regulated
by
transcription
factors
TCF24
DLX3.
During
hatching,
immune-related
regulated,
such
as
Ptgs1,
Lyz2,
Il-α,
Cfb
(upregulated)
Cd36
(downregulated).
immunofluorescence
staining,
found
C3
IL-1β
on
extra-luminal
surface
trophectoderm
blastocyst,
suggesting
they
play
a
role
maternal-fetal
interactions.
As
developed
to
fully
state,
307
either
upregulated
factor
ATOH8
or
downregulated
SPIC
switch
immune
pathways.
Based
outcome,
identified
three
patterns
complex
changes
transcriptional
regulation
network
failed
successfully
blastocysts.
LASSO
regression-based
model
using
Cd36,
Cfb,
Cyp17a1
predict
success.
This
study
revealed
diverse,
multidimensional
developmental
fates
during
short-term
indicated
properties
embryo
had
major
effect
suggest
their
preimplantation
affect
implantation.
contributes
our
understanding