medRxiv (Cold Spring Harbor Laboratory),
Год журнала:
2023,
Номер
unknown
Опубликована: Авг. 21, 2023
Abstract
Background
and
Objectives
The
two
most
common
neurodegenerative
diseases
are
Alzheimer’s
disease
(AD)
Parkinson’s
(PD),
both
related
to
age
affect
millions
of
people
across
the
world,
especially
as
life
expectancy
increases
in
certain
countries.
Here,
we
explore
potential
predictiveness
genetic
risk
AD
PD
separately
then
extent
underlying
shared
genetics
PD.
Methods
population
estimates
for
were
derived
using
a
previously
developed
specific
polygenic
score
(psPRS)
regression-based
SNP
filtering
method.
To
test
overlap
between
PD,
ran
regression
psPRSs
versus
prevalences
filtered
unfiltered
PRS
vice
versa.
We
assessed
gene-gene
interaction
pathway
involvement
KnowledgeBase
(
AlzKB
)
STRINGdb,
respectively.
Results
psPRS
was
moderately
predictive,
while
not.
After
filtering,
improved
strongly
explained
variation.
ability
predict
versa,
is
poor.
However,
AD,
highly
predictive.
Discussion
Our
results
suggest
that
there
correlation
allele
frequency
prevalence,
well
an
generally.
better
predictor
than
AD.
call
further
research
into
general
disease,
despite
previous
lack
evidence.
Cold Spring Harbor Perspectives in Biology,
Год журнала:
2024,
Номер
unknown, С. a041437 - a041437
Опубликована: Фев. 5, 2024
Michael
G.
Ritchie1
and
Roger
K.
Butlin2,3
1Centre
for
Biological
Diversity,
University
of
St.
Andrews,
College
Gate,
Andrews
KY16
9AJ,
United
Kingdom
2Ecology
Evolutionary
Biology,
School
Biosciences,
The
Sheffield,
Sheffield
S10
2TN,
3Department
Marine
Sciences,
Gothenburg,
405
30
Göteborg,
Sweden
Correspondence:
mgr{at}st-andrews.ac.uk;
r.k.butlin{at}sheffield.ac.uk
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
bioRxiv (Cold Spring Harbor Laboratory),
Год журнала:
2025,
Номер
unknown
Опубликована: Янв. 22, 2025
ABSTRACT
Despite
the
evolutionary
importance
of
supergenes,
their
properties
in
polyploids
remain
unexplored.
Polyploid
genomes
are
expected
to
undergo
chromosomal
rearrangements
and
gene
losses
over
time,
potentially
affecting
supergene
architecture.
The
iconic
distyly
(
S
-locus),
controlling
a
floral
heteromorphism
with
two
self-incompatible
morphs,
has
been
well-documented
diploids,
but
remains
unknown
polyploids.
Primula
,
classic
model
for
since
Darwin,
is
ancestrally
diploid
distylous,
yet
polyploid,
homostylous
species
single,
self-compatible
morph
evolved
repeatedly.
intraspecific
loss
associated
small
loss-of-function
mutations
-locus
CYP
T
style
length
female
self-incompatibility.
Over
longer
timescales,
relaxed
selection
on
should
generate
greater
accumulation
larger
mutations,
including
exon
loss.
By
analyzing
first
assembled
genome
an
allotetraploid,
grandis
)
comparative
framework,
we
discovered
two,
nearly
identical
alleles
same
subgenome,
suggesting
it
originated
via
inter-specific
hybridization
between
distylous
progenitor.
Conformant
predictions
from
theory,
macroevolutionary
coincided
considerable
degeneration
while
other
genes
remained
largely
unaffected,
shift
homostyly
preceded
facilitated
polyploid
establishment.
At
whole-genome
level,
found
minimal
subgenome
dominance
—
as
expected,
given
inferred
recent
origin
P.
highly
reduced
genetic
diversity,
congruently
its
narrow
distribution
self-compatibility.
This
study
provides
comparison
across
ploidy
levels
reproductive
systems,
contributing
new
knowledge
previously
fate
supergenes
SIGNIFICANCE
advances
evolution
by
elucidating
how
(clusters
tightly
linked
genes)
evolve
different
sets
chromosomes
systems.
newly
broad
provide
outcrossers
self-fertilizers.
We
one
pair
rather
than
per
revealing
cross
self-incompatibility
was
considerably
degenerated,
because
rest
unaffected.
Nature Communications,
Год журнала:
2025,
Номер
16(1)
Опубликована: Янв. 27, 2025
The
Thorny
Skate
(Amblyraja
radiata)
is
a
vulnerable
species
displaying
discrete
size-polymorphism
in
the
northwest
Atlantic
Ocean
(NWA).
We
conducted
whole
genome
sequencing
of
samples
collected
across
its
range.
Genetic
diversity
was
similar
at
all
sampled
sites,
but
we
discovered
~
31
megabase
bi-allelic
supergene
associated
with
size
polymorphism,
larger
allele
having
introgressed
last
~160,000
years
B.P.
While
both
Gulf
Maine
(GoM)
and
Canadian
(CAN)
populations
exhibit
detected
significant
deficit
heterozygotes
longer
stretches
homozygosity
GoM
population.
This
suggests
inbreeding
driven
by
assortative
mating
for
not
CAN.
Coalescent-based
demographic
modelling
reveals
strong
migration
between
regions
maintaining
genetic
variability
recombining
genome,
preventing
speciation
morphs.
study
highlights
short-term
context-dependent
evolutionary
consequences
size-determining
providing
new
insights
management
species.
thorny
skate
ocean
discreet
polymorphism.
Here,
authors
have
sequenced
49
individuals,
finding
locus
that
size.
bioRxiv (Cold Spring Harbor Laboratory),
Год журнала:
2024,
Номер
unknown
Опубликована: Окт. 25, 2024
Abstract
We
introduce
multiplex
Kompetitive
Allele-Specific
PCR
(mxKASP):
a
modification
of
‘classical’
KASP
genotyping
that
allows
zygosity
to
be
determined
in
diploid
organisms.
Rather
than
targeting
SNP
associated
with
single
marker,
mxKASP
targets
two
non-homologous
markers.
show
proof
concept
by
applying
the
balanced
lethal
system
Triturus
newts,
which
individuals
are
known
possess
either:
(1)
zero
copies
1A
version
chromosome
1
and
1B
version;
(2)
one
copy
1B;
or
(3)
1B.
is
successful
amplifying
both
marker
reaction
(if
present),
allowing
inferred.
independently
confirm
our
results
approach.
argue
can
applied
rapidly
economically
determine
zygostity
organisms,
for
large
number
samples
at
once.
Proceedings of the Royal Society B Biological Sciences,
Год журнала:
2023,
Номер
290(2008)
Опубликована: Окт. 11, 2023
Supergenes,
tightly
linked
sets
of
alleles,
offer
some
the
most
spectacular
examples
polymorphism
persisting
under
long-term
balancing
selection.
However,
we
still
do
not
understand
their
evolution
and
persistence,
especially
in
face
accumulation
deleterious
elements.
Here,
show
that
an
overdominant
supergene
seaweed
flies,
Coelopa
frigida,
modulates
male
traits,
potentially
facilitating
disassortative
mating
promoting
intraspecific
polymorphism.
Across
two
continents,
Cf-Inv(1)
strongly
affected
composition
cuticular
hydrocarbons
(CHCs)
but
only
weakly
CHC
females.
Using
gas
chromatography-electroantennographic
detection,
females
can
sense
CHCs
there
may
be
differential
perception
between
genotypes.
Combining
our
phenotypic
results
with
RNA-seq
data,
candidate
genes
for
biosynthesis
primarily
expression
males
Conversely,
odorant
detection
were
differentially
expressed
both
sexes
showed
high
levels
divergence
haplotypes.
We
suggest
reduced
recombination
haplotypes
have
led
to
rapid
mate
preferences
as
well
increasing
linkage
loci.
Together
this
probably
helped
maintain
despite
effects
homozygotes.
bioRxiv (Cold Spring Harbor Laboratory),
Год журнала:
2024,
Номер
unknown
Опубликована: Окт. 29, 2024
Abstract
High
throughput
sequencing
technologies
have
become
essential
in
the
fields
of
evolutionary
biology
and
genomics.
When
dealing
with
non-model
organisms
or
genomic
gigantism,
whole
genomes
is
still
relatively
costly
therefore
reduced-genome
representations
are
frequently
obtained,
for
instance
by
‘target
capture’
approaches.
While
computational
tools
exist
that
can
handle
target
capture
data
identify
small-scale
variants
such
as
single
nucleotide
polymorphisms
micro-indels,
options
to
large
scale
structural
limited.
To
meet
this
need,
we
introduce
PAV-spotter:
a
tool
presence/absence
variation
(PAV)
data.
PAV-spotter
conducts
signal
cross-correlation
calculation,
which
distribution
read
counts
per
between
samples
different
priori
defined
classes
–
e.g.
male
versus
female,
diseased
healthy
compared.
We
apply
test
our
methodology
studying
Triturus
newts:
salamanders
gigantic
currently
lack
an
annotated
reference
genome.
newts
suffer
from
hereditary
disease
kills
half
their
offspring
during
embryogenesis.
compare
two
types
embryos,
characterized
unique
deletions,
those
embryos.
Our
findings
show
helps
expose
variants,
even
face
medium
low
coverage
levels,
sample
sizes,
background
noise
due
mis-mapped
reads.
be
used
study
underlying
supergene
systems
absence
genome
assemblies.
The
code,
including
further
explanation
on
how
use
customize
it,
available
through
GitHub
repository:
https://github.com/Wielstra-Lab/PAVspotter
.