BMC Biology,
Journal Year:
2025,
Volume and Issue:
23(1)
Published: Feb. 6, 2025
During
oocyte
maturation,
DNA
double-strand
breaks
(DSBs)
can
decrease
quality
or
cause
mutations.
How
DSBs
are
repaired
in
dividing
oocytes
and
which
factors
influence
DSB
repair
not
well
understood.
By
analyzing
pathways
at
different
stages,
we
found
that
break-induced
replication
(BIR)
RAD51-mediated
homology-directed
(HDR)
were
highly
active
germinal
vesicle
breakdown
(GVBD)
but
suppressed
metaphase
II
(MII)
the
BIR
was
promoted
by
CDK1
activity.
culturing
media,
high-energy
such
as
DMEM,
decreased
protein
levels
HDR
MII
oocytes.
In
contrast,
53BP1-mediated
nonhomologous
end
joining
(NHEJ)
inhibited
(GV)
GVBD
oocytes,
NHEJ
affected
DMEM
medium
addition,
polymerase
theta-mediated
(TMEJ)
to
be
activity
media.
summary,
exhibit
high
heterogeneity
repair,
is
regulated
both
metabolic
These
results
only
expand
our
understanding
of
also
contribute
modification
vitro
maturation
for
Reproductive Medicine and Biology,
Journal Year:
2025,
Volume and Issue:
24(1)
Published: Jan. 1, 2025
Abstract
Background
Mitosis
maintains
a
genome's
genetic
information
in
daughter
cells
by
accurately
segregating
chromosomes.
However,
chromosome
aberrations
are
common
during
early
mammalian
embryogenesis.
Chromosomal
abnormalities
the
stages
of
embryogenesis
result
formation
mosaic
embryos,
wherein
with
normal
genomes
coexist
exhibiting
abnormal
genomes.
The
precise
frequency
and
etiology
such
remain
unclear.
It
is
postulated
that
these
contribute
to
number
conditions,
including
infertility
congenital
diseases
as
Down's
syndrome.
Methods
This
review
synthesizes
current
literature
data
elucidate
causes
implications
embryos.
places
particular
emphasis
on
identifying
patterns
mosaicism
investigating
underlying
mechanisms
responsible
for
abnormalities.
Main
Findings
embryos
were
examined
context
DNA
replication
embryonic
development.
Conclusion
A
deeper
understanding
could
help
develop
new
treatments
advance
research
cancers
caused
article
reviews
knowledge
gaps
segregation
future
directions
this
field.
Biology Open,
Journal Year:
2025,
Volume and Issue:
14(1)
Published: Jan. 15, 2025
ABSTRACT
Chromosomal
aneuploidies
are
a
major
cause
of
developmental
failure
and
pregnancy
loss.
To
investigate
the
possible
consequences
aneuploidy
on
early
embryonic
development
in
vitro,
we
focused
primed
pluripotent
stem
cells
that
relatable
to
epiblast
post-implantation
embryos
vivo.
We
used
human
induced
(iPSCs)
as
an
model
altered
chromosome
numbers
by
treating
with
reversine,
small-molecule
inhibitor
monopolar
spindle
1
kinase
(MSP1)
inactivates
assembly
checkpoint,
which
has
been
strongly
implicated
mis-segregation
generation.
Upon
reversine
treatment,
obtained
varied
chromosomal
content
retained
pluripotency
potential
differentiate
into
three
germ
lineages.
However,
these
displayed
lagging
chromosomes,
increased
micronuclei
content,
high
p53
expression
excessive
apoptotic
activity.
Cell
proliferation
was
not
affected.
Prolonged
vitro
culture
resulted
selective
pool
supernumerary
exhibited
cellular
hypertrophy,
enlarged
nuclei,
overproduction
total
RNAs
proteins.
conclude
DNA
damage
responses,
apoptosis,
improper
mass
functions
mechanisms
contribute
abnormal
development.
Communications Biology,
Journal Year:
2025,
Volume and Issue:
8(1)
Published: Jan. 26, 2025
Genomic
instability
is
the
main
cause
of
abnormal
embryo
development
and
abortion.
NLRP7
dysfunctions
affect
embryonic
lead
to
Hydatidiform
Moles,
but
underlying
mechanisms
remain
largely
elusive.
Here,
we
show
that
knockout
affects
genetic
stability,
resulting
in
increased
DNA
damage
both
human
stem
cells
blastoids,
making
blastoids
more
susceptible
apoptosis.
Mechanistically,
can
interact
with
factors
related
alternative
splicing
response,
including
DDX39B,
PRPF8,
THRAP3
PARP1.
Moreover,
dysfunction
leads
genes
involved
homologous
recombination
cells,
Such
as
Brca1
Rad51.
These
results
indicate
NLRP7-mediated
Alternative
potentially
required
for
maintenance
genome
integrity
during
early
embryogenesis.
Together,
this
study
uncovers
plays
an
essential
role
stability
by
regulating
recombination-related
genes.
BMC Biology,
Journal Year:
2025,
Volume and Issue:
23(1)
Published: Feb. 6, 2025
During
oocyte
maturation,
DNA
double-strand
breaks
(DSBs)
can
decrease
quality
or
cause
mutations.
How
DSBs
are
repaired
in
dividing
oocytes
and
which
factors
influence
DSB
repair
not
well
understood.
By
analyzing
pathways
at
different
stages,
we
found
that
break-induced
replication
(BIR)
RAD51-mediated
homology-directed
(HDR)
were
highly
active
germinal
vesicle
breakdown
(GVBD)
but
suppressed
metaphase
II
(MII)
the
BIR
was
promoted
by
CDK1
activity.
culturing
media,
high-energy
such
as
DMEM,
decreased
protein
levels
HDR
MII
oocytes.
In
contrast,
53BP1-mediated
nonhomologous
end
joining
(NHEJ)
inhibited
(GV)
GVBD
oocytes,
NHEJ
affected
DMEM
medium
addition,
polymerase
theta-mediated
(TMEJ)
to
be
activity
media.
summary,
exhibit
high
heterogeneity
repair,
is
regulated
both
metabolic
These
results
only
expand
our
understanding
of
also
contribute
modification
vitro
maturation
for
