bioRxiv (Cold Spring Harbor Laboratory),
Journal Year:
2024,
Volume and Issue:
unknown
Published: June 12, 2024
Many
essential
functions
of
organisms
are
encoded
in
highly
repetitive
genomic
regions,
including
histones
involved
DNA
packaging,
centromeres
that
core
components
chromosome
segregation,
ribosomal
RNA
comprising
the
protein
translation
machinery,
telomeres
ensure
integrity,
piRNA
clusters
encoding
host
defenses
against
selfish
elements,
and
virtually
entire
Y
chromosome.
These
formed
by
similar
tandem
arrays,
pose
significant
challenges
for
experimental
informatic
study,
impeding
sequence-level
descriptions
understanding
genetic
variation.
Here,
we
report
assembly
variation
analysis
such
regions
Nucleic Acids Research,
Journal Year:
2025,
Volume and Issue:
53(2)
Published: Jan. 11, 2025
Abstract
Large
genetic
variants
can
be
generated
via
homologous
recombination
(HR),
such
as
polymerase
theta-mediated
end
joining
(TMEJ)
or
single-strand
annealing
(SSA).
Given
that
these
HR-based
mechanisms
leave
specific
genomic
signatures,
we
developed
GDBr,
a
signature
interpretation
tool
for
DNA
double-strand
break
repair
using
high-quality
genome
assemblies.
We
applied
GDBr
to
draft
human
pangenome
reference.
found
78.1%
of
non-repetitive
insertions
and
deletions
11.0%
complex
substitutions
contained
signatures.
Of
these,
interpreted
98.7%
1.3%
the
were
TMEJ
SSA,
respectively,
all
TMEJ.
Since
population-level
datasets
are
being
dramatically
accumulated,
provide
mechanistic
insights
into
how
formed.
is
available
on
GitHub
at
https://github.com/Chemical118/GDBr.
Evolution Letters,
Journal Year:
2025,
Volume and Issue:
unknown
Published: Feb. 5, 2025
Our
ability
to
predict
the
emergence
of
novel
viruses
relies
on
there
being
generalisable
patterns
in
susceptibilities
hosts
infections.
Studies
investigating
variation
susceptibility
among
host
species
have
consistently
shown
that
closely
related
share
similar
a
given
virus.
However,
extent
which
such
phylogenetic
are
correlated
amongst
diverse
sets
is
unclear.
Here,
we
investigate
correlations
Drosophilidae
panel
eleven
different
invertebrate
viruses,
comprising
seven
unique
virus
species,
six
families,
and
both
RNA
DNA
viruses.
The
each
pair
tested
was
either
positively
across
or
did
not
show
evidence
correlation.
No
negative
correlations,
indicative
evolutionary
trade-offs
were
detected
between
any
pairs.
strength
generally
higher
same
family,
consistent
with
infectivity.
results
suggest
generalised
can
result
positive
even
highly
diverged
while
specialised
interactions
individual
cause
stepwise
decrease
correlation
from
within-species,
within-family,
across-family
level.
Abstract
Numerous
studies
have
revealed
a
signature
of
strong
adaptive
evolution
in
the
piwi-interacting
RNA
(piRNA)
machinery
Drosophila
melanogaster,
but
cause
this
pattern
is
not
understood.
Several
hypotheses
been
proposed.
One
hypothesis
that
transposable
element
(TE)
families
and
piRNA
are
co-evolving
under
an
evolutionary
arms
race,
perhaps
due
to
antagonism
by
TEs
against
machinery.
A
related,
though
co-evolutionary,
recurrent
TE
invasion
drives
adapt
novel
strategies.
third
ongoing
fluctuation
abundance
leads
adaptation
must
constantly
adjust
between
sensitivity
for
detecting
new
elements
specificity
avoid
cost
off-target
gene
silencing.
Rapid
may
also
be
driven
independently
TEs,
instead
from
other
functions
such
as
role
piRNAs
suppressing
sex-chromosome
meiotic
drive.
We
sought
evaluate
impact
on
D.
melanogaster
2
species
with
higher
repeat
content—Drosophila
ananassae
willistoni.
This
comparison
was
achieved
employing
likelihood-based
testing
framework
based
McDonald–Kreitman
test.
show
we
can
reject
faster
rate
these
species.
propose
high
either
recent
influx
occurred
during
range
expansion
or
selection
Genome biology,
Journal Year:
2025,
Volume and Issue:
26(1)
Published: March 18, 2025
Abstract
Background
The
Drosophila
genus
is
ideal
for
studying
genome
evolution
due
to
its
relatively
simple
chromosome
structure
and
small
size,
with
rearrangements
mainly
restricted
within
arms,
such
as
Muller
elements.
However,
work
on
the
rapidly
evolving
repetitive
genomic
regions,
composed
of
transposons
tandem
repeats,
have
been
hampered
by
lack
genus-wide
chromosome-level
assemblies.
Results
Integrating
long-read
sequencing
capture
technology,
here
we
produce
annotate
30
assemblies
genus.
Based
this
dataset,
reveal
evolutionary
dynamics
across
phylogeny,
including
identification
regions
that
show
comparatively
high
structural
stability
throughout
evolution.
Moreover,
ananassae
subgroup,
uncover
emergence
new
conformations
rapid
expansion
novel
satellite
DNA
sequence
families,
which
form
large
continuous
pericentromeric
domains
higher-order
repeat
structures
are
reminiscent
those
observed
in
human
Arabidopsis
genomes.
Conclusions
These
present
a
valuable
resource
future
research,
power
demonstrated
our
analysis
In
addition,
based
findings,
propose
subgroup
an
model
system
centromere
structure.
PLoS Genetics,
Journal Year:
2021,
Volume and Issue:
17(2), P. e1009373 - e1009373
Published: Feb. 26, 2021
Whether
hard
sweeps
or
soft
dominate
adaptation
has
been
a
matter
of
much
debate.
Recently,
we
developed
haplotype
homozygosity
statistics
that
(i)
can
detect
both
and
with
similar
power
(ii)
classify
the
detected
as
soft.
The
application
our
method
to
population
genomic
data
from
natural
Drosophila
melanogaster
(DGRP)
allowed
us
rediscover
three
known
cases
at
loci
Ace,
Cyp6g1,
CHKov1
be
driven
by
sweeps,
additional
candidate
for
recent
strong
sweeps.
Surprisingly,
all
top
50
candidates
showed
patterns
more
consistent
rather
than
Harris
et
al.
2018
criticized
this
work,
suggesting
statistics,
including
positive
controls,
are
unlikely
instead
these
easily
explained
complex
neutral
demographic
models.
They
also
claim
non-sweeps
likely
Here,
reanalyze
DGRP
using
range
admixture
models
reconfirm
original
published
results
majority
in
D.
first
true
second,
they
do
appear
Furthermore,
discuss
ways
take
work
forward
given
most
employed
such
analyses
necessarily
too
simple
capture
full
complexity,
while
realistic
inferred
correctly
because
require
large
number
free
parameters.
Molecular Biology and Evolution,
Journal Year:
2021,
Volume and Issue:
38(10), P. 4252 - 4267
Published: May 21, 2021
Transposable
elements
(TEs)
are
ubiquitous
and
mobile
repeated
sequences.
They
major
determinants
of
host
fitness.
Here,
we
characterized
the
TE
content
spotted
wing
fly
Drosophila
suzukii.
Using
a
recently
improved
genome
assembly,
reconstructed
sequences
de
novo
found
that
TEs
occupy
47%
mostly
located
in
gene-poor
regions.
The
majority
insertions
segregate
at
low
frequencies,
indicating
recent
probably
ongoing
activity.
To
explore
dynamics
context
biological
invasions,
studied
variation
abundance
genomic
data
from
16
invasive
six
native
populations
D.
We
large
increase
load
correlated
with
reduced
Watterson
estimate
genetic
diversity
θw^
proxy
effective
population
size.
did
not
find
any
correlation
between
contents
bioclimatic
variables,
minor
effect
environmentally
induced
A
genome-wide
association
study
revealed
ca.
2,000
regions
associated
abundance.
find,
however,
evidence
such
an
enrichment
for
genes
known
to
interact
activity
(e.g.,
transcription
factor
encoding
or
piRNA
pathway).
Finally,
insertion
frequencies
15
putatively
adaptive
insertions,
them
being
likely
invasion
history
species.
Genome Biology and Evolution,
Journal Year:
2022,
Volume and Issue:
14(5)
Published: April 30, 2022
Abstract
Satellite
DNAs
(SatDNA)
are
ubiquitously
present
in
eukaryotic
genomes
and
have
been
recently
associated
with
several
biological
roles.
Understanding
the
evolution
significance
of
SatDNA
requires
an
extensive
comparison
across
multiple
phylogenetic
depths.
We
combined
RepeatExplorer
pipeline
cytogenetic
approaches
to
conduct
a
comprehensive
identification
analysis
satellitome
37
species
from
genus
Drosophila.
identified
188
SatDNA-like
families,
112
them
being
characterized
for
first
time.
Repeat
within
framework
has
revealed
deeply
divergent
nature
sequences
Drosophila
genus.
The
content
varied
0.54%
D.
arizonae
genome
38.8%
albomicans
genome,
often
following
signal.
Monomer
size
guanine–cytosine-content
also
showed
extreme
variation
ranging
2–570
bp
9.1–71.4%,
respectively.
families
shared
among
closely
related
species,
consistent
library
hypothesis.
However,
we
uncovered
emergence
species-specific
through
amplification
unique
or
low
abundant
lineage.
Finally,
found
that
sizes
Sophophora
subgenus
positively
correlated
transposable
element
content,
whereas
is
SatDNA.
This
finding
indicates
could
be
driven
by
different
categories
repetitive
elements
each
subgenus.
Altogether,
conducted
most
perspective
generated
largest
catalog
date,
enabling
future
discoveries
architecture.
Nature Communications,
Journal Year:
2023,
Volume and Issue:
14(1)
Published: Nov. 13, 2023
Abstract
The
PIWI-interacting
RNA
(piRNA)
pathway
prevents
endogenous
genomic
parasites,
i.e.
transposable
elements,
from
damaging
the
genetic
material
of
animal
gonadal
cells.
Specific
regions
in
genome,
called
piRNA
clusters,
are
thought
to
define
each
species’
repertoire
and
therefore
its
capacity
recognize
silence
specific
transposon
families.
unistrand
cluster
flamenco
(
flam
)
is
essential
somatic
compartment
Drosophila
ovary
restrict
Gypsy
-family
transposons
infecting
neighbouring
germ
Disruption
results
de-repression
sterility,
yet
it
remains
unknown
whether
this
silencing
mechanism
present
more
widely.
Here,
we
systematically
characterise
119
species
identify
five
additional
-like
clusters
separated
by
up
45
million
years
evolution.
Small
RNA-sequencing
validated
these
as
bona-fide
expressed
cells
ovary,
where
they
selectively
target
family.
Together,
our
study
provides
compelling
evidence
a
widely
conserved
that
co-evolved
with
virus-like
transposons.
Proceedings of the National Academy of Sciences,
Journal Year:
2024,
Volume and Issue:
121(15)
Published: April 2, 2024
Transposable
element
invasions
have
a
profound
impact
on
the
evolution
of
genomes
and
phenotypes.
It
is
thus
an
important
open
question
how
often
such
TE
occur.
To
address
this
question,
we
utilize
historical
specimens,
sampled
about
200
y
ago.
We
found
that
LTR
retrotransposons
Blood,
Opus,
412
spread
in
Drosophila
melanogaster
19th
century.
These
constitute
second
waves,
as
degraded
fragments
were
for
all
three
TEs.
The
composition
Opus
412,
but
not
shows
pronounced
geographic
heterogeneity,
likely
due
to
founder
effects
during
invasions.
Finally,
identified
species
from
simulans
complex
origin
show
total,
seven
families
invaded
D.
last
200y,
thereby
increasing
genome
size
by
up
1.2Mbp.
suggest
high
rate
was
triggered
human
activity.
Based
analysis
strains
specimens
at
different
times,
provide
detailed
timeline
invasions,
making
first
organism
where
invasion
history
TEs
two
centuries
could
be
inferred.
Communications Biology,
Journal Year:
2024,
Volume and Issue:
7(1)
Published: Jan. 12, 2024
Abstract
Unique
patterns
of
inheritance
and
selection
on
Y
chromosomes
have
led
to
the
evolution
specialized
gene
functions.
We
report
CRISPR
mutants
in
Drosophila
Y-linked
gene,
WDY
,
which
is
required
for
male
fertility.
demonstrate
that
sperm
tails
beat
approximately
half
as
fast
those
wild-type
mutant
do
not
propel
themselves
within
ejaculatory
duct
or
female
reproductive
tract.
Therefore,
although
mature
are
produced
by
males,
transferred
females,
fail
enter
storage
organs.
genotype-dependent
regional
differences
motility
appear
break
correlation
between
tail
beating
propulsion.
Furthermore,
we
identify
a
significant
change
hydrophobicity
at
residue
putative
calcium-binding
site
orthologs
split
melanogaster
obscura
species
groups,
when
first
became
Y-linked.
This
suggests
major
functional
coincided
with
its
appearance
chromosome.
Finally,
show
another
PRY
also
defect
may
explain
their
subfertility.
Overall,
provide
direct
evidence
long-held
presumption
protein-coding
genes
regulate
motility.