International Journal of Biological Sciences,
Год журнала:
2022,
Номер
18(5), С. 1933 - 1943
Опубликована: Янв. 1, 2022
About
10%
of
reproductive-aged
couples
suffer
from
infertility.However,
the
genetic
causes
human
infertility
cases
are
largely
unknown.Meiosis
produces
haploid
gametes
for
fertilization
and
errors
in
meiosis
associated
with
both
males
females.Successful
relies
on
assembly
synaptonemal
complex
(SC)
between
paired
homologous
chromosomes
during
meiotic
prophase.The
SC
is
ultrastructurally
functionally
conserved,
promoting
inter-homologous
recombination
crossover
formation,
thus
critical
accurate
chromosome
segregation.With
whole-genome/exome
sequencing
mouse
models,
a
list
mutations
coding
genes
has
been
linked
to
infertility.Here
we
summarize
those
findings.We
also
analyzed
gene
variants
present
general
population
presented
interaction
networks
components.Whether
combination
variations
environmental
factors
demands
further
investigations.
PLoS Genetics,
Год журнала:
2024,
Номер
20(6), С. e1011329 - e1011329
Опубликована: Июнь 24, 2024
Precise
regulation
of
chromosome
dynamics
in
the
germline
is
essential
for
reproductive
success
across
species.
Yet,
mechanisms
underlying
meiotic
chromosomal
events
such
as
homolog
pairing
and
segregation
are
not
fully
understood
many
Here,
we
employ
Oligopaint
DNA
FISH
to
investigate
holocentric
pantry
moth,
Plodia
interpunctella
,
compare
our
findings
new
previous
studies
silkworm
Bombyx
mori
which
diverged
from
P
.
over
100
million
years
ago.
We
find
that
both
spermatogenesis
initiated
at
gene-rich
ends.
Additionally,
species
form
rod
shaped
cruciform-like
bivalents
metaphase
I.
However,
unlike
telomere-oriented
mechanism
observed
can
orient
multiple
different
ways
Surprisingly,
kinetochores
consistently
assemble
non-telomeric
loci
toward
center
chromosomes
regardless
where
centers
located
bivalent.
sister
do
seem
be
paired
these
Instead,
four
distinct
easily
Despite
this,
clear
end-on
microtubule
attachments
lateral
co-orienting
separated
kinetochores.
These
challenge
classical
view
paired,
poleward-facing
required
accurate
separation
meiosis
Our
here
highlight
importance
exploring
fundamental
processes
non-model
systems,
employing
novel
organisms
lead
discovery
biology.
PLoS Genetics,
Год журнала:
2023,
Номер
19(2), С. e1010347 - e1010347
Опубликована: Фев. 10, 2023
Recombination
is
often
suppressed
at
sex-determining
loci
in
plants
and
animals,
self-incompatibility
or
mating-type
fungi.
In
fungal
ascomycetes,
recombination
suppression
around
the
locus
associated
with
pseudo-homothallism,
i
.
e
production
of
self-fertile
dikaryotic
sexual
spores
carrying
two
opposite
mating
types.
This
has
been
well
studied
species
complexes
from
different
families
Sordariales
:
Podospora
anserina
Neurospora
tetrasperma
However,
it
unclear
whether
this
intriguing
association
holds
other
species.
We
show
here
that
Schizothecium
tetrasporum
,
a
fungus
third
family
order
also
produces
mostly
was
due
to
high
frequency
second
meiotic
division
segregation
locus,
indicating
occurrence
single
systematic
crossing-over
event
between
centromere,
as
P
The
typical
organization,
plus
MAT1-1-1
pseudogene
MAT1-2
haplotype.
High-quality
genome
assemblies
types
analyses
revealed
region
1.47
Mb
locus.
detected
three
evolutionary
strata,
stepwise
extension
suppression.
strata
displayed
no
rearrangement
transposable
element
accumulation
but
gene
losses
disruptions
were
present,
precisely
margins.
Our
findings
indicate
convergent
evolution
across
multiple
ascomycete
particular
pattern
had
extended
stepwise.
pseudo-homothallism
lineages
presence
disruption
limits
are
consistent
recently
proposed
mechanism
sheltering
deleterious
alleles
explain
Molecular Biology and Evolution,
Год журнала:
2024,
Номер
41(3)
Опубликована: Фев. 29, 2024
Abstract
Polyploidy,
a
significant
catalyst
for
speciation
and
evolutionary
processes
in
both
plant
animal
kingdoms,
has
been
recognized
long
time.
However,
the
exact
molecular
mechanism
that
leads
to
polyploid
formation,
especially
vertebrates,
is
not
fully
understood.
Our
study
aimed
elucidate
this
phenomenon
using
zebrafish
model.
We
successfully
achieved
an
effective
knockout
of
cyclin
N-terminal
domain
containing
1
(cntd1)
CRISPR/Cas9
technology.
This
resulted
impaired
formation
meiotic
crossovers,
leading
cell-cycle
arrest
during
metaphase
triggering
apoptosis
spermatocytes
testes.
Despite
these
defects,
mutant
(cntd1−/−)
males
were
still
able
produce
limited
amount
sperm
with
normal
ploidy
function.
Interestingly,
females,
it
was
capacity
egg
production
altered.
haploid,
aneuploid,
unreduced
gametes.
alteration
enabled
us
obtain
triploid
tetraploid
from
cntd1−/−
cntd1−/−/−
respectively.
Furthermore,
tetraploid-heterozygous
produced
reduced-diploid
gametes
yielded
all-triploid
or
all-tetraploid
offspring
when
crossed
wild-type
(WT)
zebrafish,
Collectively,
our
findings
provide
direct
evidence
supporting
crucial
role
crossover
defects
process
polyploidization.
particularly
evident
generation
eggs
fish
and,
potentially,
other
vertebrate
species.
PLoS Genetics,
Год журнала:
2024,
Номер
20(3), С. e1011185 - e1011185
Опубликована: Март 15, 2024
The
segregation
of
homologous
chromosomes
during
meiosis
typically
requires
tight
end-to-end
chromosome
pairing.
However,
in
Drosophila
spermatogenesis,
male
flies
segregate
their
without
classic
synaptonemal
complex
formation
and
recombination,
instead
compartmentalizing
homologs
into
subnuclear
domains
known
as
territories
(CTs).
How
find
each
other
the
nucleus
are
separated
CTs
has
been
one
biggest
riddles
biology.
Here,
we
discuss
our
current
understanding
pairing
CT
review
recent
data
on
how
linked
partitioned
flies.
Molecular Biology and Evolution,
Год журнала:
2024,
Номер
41(9)
Опубликована: Авг. 24, 2024
Abstract
Meiotic
recombination
through
chromosomal
crossing-over
is
a
fundamental
feature
of
sex
and
an
important
driver
genomic
diversity.
It
ensures
proper
disjunction,
allows
increased
selection
responses,
prevents
mutation
accumulation;
however,
it
also
mutagenic
can
break
up
favorable
haplotypes.
This
cost–benefit
dynamic
likely
to
vary
depending
on
mechanistic
evolutionary
contexts,
indeed,
rates
show
huge
variation
in
nature.
Identifying
the
genetic
architecture
this
key
understanding
its
causes
consequences.
Here,
we
investigate
individual
rate
wild
house
sparrows
(Passer
domesticus).
We
integrate
pedigree
data
identify
autosomal
crossover
counts
(ACCs)
intrachromosomal
allelic
shuffling
(r¯intra)
13,056
gametes
transmitted
from
2,653
individuals
their
offspring.
Females
had
1.37
times
higher
ACC,
1.55
r¯intra
than
males.
ACC
were
heritable
females
males
(ACC
h2
=
0.23
0.11;
0.12
0.14),
but
cross-sex
additive
correlations
low
(rA
0.29
0.32
for
r¯intra).
Conditional
bivariate
analyses
showed
that
all
measures
remained
after
accounting
values
opposite
sex,
indicating
sex-specific
evolve
somewhat
independently.
Genome-wide
models
are
polygenic
driven
by
many
small-effect
loci,
which
act
trans
as
global
modifiers.
Our
findings
have
different
potential
birds,
providing
compelling
mechanism
evolution
sexual
dimorphism
recombination.
G3 Genes Genomes Genetics,
Год журнала:
2023,
Номер
13(4)
Опубликована: Фев. 3, 2023
Abstract
Recombination
is
essential
for
physical
attachments
and
genetic
diversity.
The
Han
Chinese
population
the
largest
ethnic
group
worldwide,
therefore,
construction
of
a
map
regarding
recombination
essential.
In
this
study,
164
240
couples
who
underwent
preimplantation
testing
monogenic
diseases
or
segmental
rearrangement
were
included
in
analysis.
Blastocysts
probands
from
by
single
nucleotide
polymorphism
array
location
was
determined
haplotype
phase
transitions
parent-offspring
pairs
at
loci
where
parents
heterozygous.
vitro
fertilization
embryos
constructed
expectation–maximization
algorithm
with
chip-level
data.
Our
results
confirmed
that
homologous
occurred
more
often
maternal
chromosomes,
age
effect
significant
recombination.
A
total
6,494
hotspots
(32.3%)
identified
genes
Online
Mendelian
Inheritance
Man.
uniform
association
between
aneuploidy
not
established.
addition,
carriers
breakpoints
reciprocal
translocations
analyzed,
locations
found
partly
overlapped
hotspots,
implying
possible
similar
mechanism
behind
both
events.
This
study
highlights
significance
constructing
map,
which
may
improve
accuracy
analysis
diseases.
Overlapping
translocation
are
worthy
further
investigation.
bioRxiv (Cold Spring Harbor Laboratory),
Год журнала:
2024,
Номер
unknown
Опубликована: Янв. 11, 2024
During
prophase
of
meiosis
I,
programmed
double
strand
breaks
(DSBs)
are
processed
into
crossovers,
a
critical
requirement
for
segregation
homologous
chromosomes
(homologs)
and
genome
haploidization
in
sexually
reproducing
organisms.
Crossovers
form
via
recombination
close
temporospatial
association
with
morphogenesis
the
synaptonemal
complex
(SC),
proteinaceous
structure
that
connects
paired
homologs
along
their
length
during
pachytene
stage.
Synapsis
paradigm
interplay
between
higher
order
chromosome
DNA
metabolism,
yet
temporal
functional
relationship
remains
poorly
understood.
Probing
linkage
these
processes
budding
yeast,
we
show
SC
assembly
is
associated
distinct
threshold
number
unstable
D-loops.
The
transition
from
bona
fide
paranemic
D-loops
to
plectonemic
DSB
single
end
invasions
(SEIs)
completed
midpachynema,
when
fully
assembled.
Double
Holliday
junctions
(dHJs)
at
time
desynapsis
resolved
crossovers
diplonema.
central
element
component
Zip1
shepherds
through
three
transitions,
including
first
exchange
second
capture,
as
well
dHJ
resolution.
mediates
SEI
formation
independent
its
polymerization
whereas
precocious
interferes
junction
Together,
our
findings
indicate
controls
while
assembled
but
also
beyond
disassembly,
possibly
by
establishing
spatial
constraints
sites.
bioRxiv (Cold Spring Harbor Laboratory),
Год журнала:
2024,
Номер
unknown
Опубликована: Янв. 31, 2024
The
classical
phenomenon
of
crossover
interference
is
a
one-dimensional
spatial
patterning
process
that
produces
evenly
spaced
crossovers
during
meiosis.
Quantitative
analysis
diagnostic
molecules
along
budding
yeast
chromosomes
reveals
this
also
sets
up
second,
interdigitated
pattern
related
but
longer
periodicity,
in
"two-tiered"
process.
second
tier
corresponds
to
previously
mysterious
minority
set
crossovers.
Thus,
toto,
the
two
tiers
account
for
all
detected
events.
Both
spatially
clustered
assemblies
three
types
("triads")
representing
major
components
meiotic
(crossover
recombination
complexes
and
chromosome
axis
synaptonemal
complex
components),
give
focal
domainal
signals,
respectively.
Roles
are
suggested.
All
observed
effects
economically
synthetically
explained
if
mediated
by
mechanical
forces
prophase
chromosomes.
Intensity
levels
triad
further
modulated,
dynamically,
conserved
protein
remodeler
Pch2/TRIP13.
Nucleic Acids Research,
Год журнала:
2024,
Номер
52(8), С. 4375 - 4392
Опубликована: Фев. 27, 2024
Accurate
chromosome
segregation
during
meiosis
requires
the
establishment
of
at
least
one
crossover
(CO)
between
each
pair
homologous
chromosomes.
CO
formation
depends
on
a
group
conserved
pro-CO
proteins,
which
colocalize
CO-designated
sites
late
meiotic
prophase
I.
However,
it
remains
unclear
whether
these
proteins
form
functional
complex
and
how
they
promote
in
vivo.
Here,
we
show
that
COSA-1,
key
component
required
for
formation,
interacts
with
other
factors,
MSH-5
ZHP-3,
via
its
N-terminal
disordered
region.
Point
mutations
impair
interactions
do
not
affect
designation,
but
strongly
hinder
accumulation
COSA-1
result
defective
formation.
These
defects
can
be
partially
bypassed
by
artificially
tethering
an
interaction-compromised
derivate
to
ZHP-3.
Furthermore,
revealed
into
distinct
foci
is
assemble
'recombination
nodules'.
prevent
early
recombination
intermediates
from
being
dismantled
RTEL-1
helicase
protect
intermediates,
such
as
Holliday
junctions,
until
are
resolved
CO-specific
resolvases.
Altogether,
our
findings
provide
insight
mediated
assembly
contribution
Journal of Cell Science,
Год журнала:
2024,
Номер
137(13)
Опубликована: Июль 1, 2024
ABSTRACT
Interactions
between
parental
chromosomes
during
the
formation
of
gametes
can
lead
to
entanglements,
entrapments
and
interlocks
unrelated
chromosomes.
If
unresolved,
these
topological
constraints
misregulation
exchanges
chromosome
mis-segregation.
Interestingly,
configurations
are
largely
resolved
by
time
aligned
pachytene.
In
this
Review,
we
highlight
inevitability
topologically
complex
discuss
possible
mechanisms
resolve
them.
We
focus
on
dynamic
nature
a
conserved
chromosomal
interface
–
synaptonemal
movements
that
accompany
meiosis
as
potential
constraints.
advantages
nematode
Caenorhabditis
elegans
for
understanding
biophysical
features
axis
could
contribute
underlying
interlock
resolution.
addition,
using
zebrafish,
Danio
rerio,
model
understand
how
entanglements
avoided
resolved.