Science Advances,
Journal Year:
2024,
Volume and Issue:
10(14)
Published: April 5, 2024
Quantifying
the
structural
variants
(SVs)
in
nonhuman
primates
could
provide
a
niche
to
clarify
genetic
backgrounds
underlying
human-specific
traits,
but
such
resource
is
largely
lacking.
Here,
we
report
an
accurate
SV
map
population
of
562
rhesus
macaques,
verified
by
in-house
benchmarks
eight
macaque
genomes
with
long-read
sequencing
and
another
one
genome
assembly.
This
indicates
stronger
selective
constrains
on
inversions
at
regulatory
regions,
suggesting
strategy
for
prioritizing
them
most
important
functions.
Accordingly,
identified
75
prioritized
them.
The
top-ranked
have
substantially
shaped
human
transcriptome,
through
their
dual
effects
reconfiguring
ancestral
genomic
architecture
introducing
regional
mutation
hotspots
inverted
regions.
As
proof
concept,
linked
APCDD1
,
located
these
down-regulated
specifically
humans,
neuronal
maturation
cognitive
ability.
We
thus
highlight
shaping
uniqueness
brain
development.
Science,
Journal Year:
2022,
Volume and Issue:
377(6604), P. 399 - 405
Published: July 21, 2022
How
locally
adapted
ecotypes
are
established
and
maintained
within
a
species
is
long-standing
question
in
evolutionary
biology.
Using
forest
prairie
of
deer
mice
(
Nature Ecology & Evolution,
Journal Year:
2022,
Volume and Issue:
6(4), P. 469 - 481
Published: Feb. 17, 2022
Abstract
Supergenes
are
sets
of
genes
that
inherited
as
a
single
marker
and
encode
complex
phenotypes
through
their
joint
action.
They
identified
in
an
increasing
number
organisms,
yet
origins
evolution
remain
enigmatic.
In
Atlantic
cod,
four
megabase-scale
supergenes
have
been
linked
to
migratory
lifestyle
environmental
adaptations.
Here
we
investigate
the
origin
maintenance
these
analysis
whole-genome-sequencing
data,
including
new
long-read-based
genome
assembly
for
non-migratory
cod
individual.
We
corroborate
finding
chromosomal
inversions
underlie
all
supergenes,
show
they
originated
at
different
times
between
0.40
1.66
million
years
ago.
reveal
gene
flux
supergene
haplotypes
where
stationary
co-occur
conclude
this
is
driven
by
conversion,
on
basis
increase
GC
content
exchanged
sites.
Additionally,
find
evidence
double
crossover
haplotypes,
leading
exchange
~275
kilobase
fragment
with
potentially
involved
adaptation
low
salinity
Baltic
Sea.
Our
results
suggest
can
be
maintained
over
long
timescales
same
way
hybridizing
species,
selective
purging
introduced
genetic
variation.
Nature Ecology & Evolution,
Journal Year:
2022,
Volume and Issue:
6(12), P. 1965 - 1979
Published: Oct. 17, 2022
Abstract
Chromosomal
inversions
are
an
important
form
of
structural
variation
that
can
affect
recombination,
chromosome
structure
and
fitness.
However,
because
be
challenging
to
detect,
the
prevalence
hence
significance
segregating
within
species
remains
largely
unknown,
especially
in
natural
populations
mammals.
Here,
by
combining
population-genomic
long-read
sequencing
analyses
a
single,
widespread
deer
mouse
(
Peromyscus
maniculatus
),
we
identified
21
polymorphic
large
(1.5–43.8
Mb)
cause
near-complete
suppression
recombination
when
heterozygous
(0–0.03
cM
Mb
−1
).
We
found
inversion
breakpoints
frequently
occur
centromeric
telomeric
regions
often
flanked
long
inverted
repeats
(0.5–50
kb),
suggesting
they
probably
arose
via
ectopic
recombination.
By
genotyping
across
species’
range,
do
not
harbour
deleterious
mutational
loads,
many
likely
maintained
as
polymorphisms
divergent
selection.
Comparisons
forest
prairie
ecotypes
mice
revealed
13
contribute
differentiation
between
populations,
which
five
exhibit
significant
associations
with
traits
implicated
local
adaptation.
Taken
together,
these
results
show
have
impact
on
genome
genetic
diversity
facilitate
adaptation
range
this
species.
Journal of Evolutionary Biology,
Journal Year:
2023,
Volume and Issue:
36(12), P. 1761 - 1782
Published: Nov. 9, 2023
Abstract
Inversions
are
structural
mutations
that
reverse
the
sequence
of
a
chromosome
segment
and
reduce
effective
rate
recombination
in
heterozygous
state.
They
play
major
role
adaptation,
as
well
other
evolutionary
processes
such
speciation.
Although
inversions
have
been
studied
since
1920s,
they
remain
difficult
to
investigate
because
reduced
conferred
by
them
strengthens
effects
drift
hitchhiking,
which
turn
can
obscure
signatures
selection.
Nonetheless,
numerous
found
be
under
Given
recent
advances
population
genetic
theory
empirical
study,
here
we
review
how
different
mechanisms
selection
affect
evolution
inversions.
A
key
difference
between
mutations,
single
nucleotide
variants,
is
fitness
an
inversion
may
affected
larger
number
frequently
interacting
processes.
This
considerably
complicates
analysis
causes
underlying
We
discuss
extent
these
disentangled,
approach.
often
roles
adaptation
speciation,
but
direct
their
obscured
characteristic
makes
so
unique
(reduced
arrangements).
In
this
review,
examine
impact
evolution,
weaving
together
both
theoretical
studies.
emphasize
most
patterns
overdetermined
(i.e.
caused
multiple
processes),
highlight
new
technologies
provide
path
forward
towards
disentangling
mechanisms.
Science,
Journal Year:
2025,
Volume and Issue:
387(6732), P. 406 - 412
Published: Jan. 23, 2025
Androgens
are
pleiotropic
and
play
pivotal
roles
in
the
formation
variation
of
sexual
phenotypes.
We
show
that
differences
circulating
androgens
between
three
male
mating
morphs
ruff
sandpipers
linked
to
17-beta
hydroxysteroid
dehydrogenase
2
(HSD17B2),
encoded
by
a
gene
within
supergene
determines
morphs.
Low-testosterone
males
had
higher
HSD17B2
expression
blood
than
high-testosterone
males,
as
well
brain
areas
related
social
behaviors
testosterone
production.
Derived
isozymes,
which
absent
but
preferentially
expressed
low-testosterone
converted
androstenedione
faster
ancestral
isozyme.
Thus,
combination
evolutionary
changes
regulation,
sequence,
structure
single
introduces
endocrine
underlying
reproductive
Genome Biology and Evolution,
Journal Year:
2021,
Volume and Issue:
13(5)
Published: March 16, 2021
Supergenes
are
genomic
regions
containing
sets
of
tightly
linked
loci
that
control
multi-trait
phenotypic
polymorphisms
under
balancing
selection.
Recent
advances
in
genomics
have
uncovered
significant
variation
both
the
architecture
as
well
mode
origin
supergenes
across
diverse
organismal
systems.
Although
role
for
has
been
much
discussed,
differences
also
subsequently
affect
evolutionary
trajectory
and
rate
degeneration
supergene
haplotypes.
In
this
review,
we
synthesize
recent
work
historical
models
evolution,
highlighting
how
affects
their
fate.
We
discuss
findings
on
classic
involved
governing
ant
colony
social
form,
mimicry
butterflies,
heterostyly
flowering
plants
relate
to
theoretical
expectations.
Furthermore,
use
forward
simulations
demonstrate
supergenes.
Finally,
implications
evolution
haplotypes
long-term
fate
balanced
governed
by
Molecular Biology and Evolution,
Journal Year:
2021,
Volume and Issue:
38(9), P. 3953 - 3971
Published: May 5, 2021
Across
a
species
range,
multiple
sources
of
environmental
heterogeneity,
at
both
small
and
large
scales,
create
complex
landscapes
selection,
which
may
challenge
adaptation,
particularly
when
gene
flow
is
high.
One
key
to
multidimensional
adaptation
reside
in
the
heterogeneity
recombination
along
genome.
Structural
variants,
like
chromosomal
inversions,
reduce
recombination,
increasing
linkage
disequilibrium
among
loci
potentially
massive
scale.
In
this
study,
we
examined
how
inversions
shape
genetic
variation
across
range
ask
their
contribution
face
varies
geographic
scales.
We
sampled
seaweed
fly
Coelopa
frigida
bioclimatic
gradient
stretching
10°
latitude,
salinity
gradient,
heterogeneous,
patchy
habitats.
generated
chromosome-level
genome
assembly
analyze
1,446
low-coverage
whole
genomes
collected
those
gradients.
found
several
nonrecombining
genomic
regions,
including
putative
inversions.
contrast
collinear
low-recombining
regions
differentiated
populations
more
strongly,
either
an
ecogeographic
cline
or
fine-grained
These
were
associated
with
factors
adaptive
phenotypes,
albeit
contrasting
patterns.
Altogether,
our
results
highlight
importance
shaping
local
Proceedings of the National Academy of Sciences,
Journal Year:
2021,
Volume and Issue:
118(35)
Published: Aug. 18, 2021
Significance
Genomic
structural
variants
(SVs)
are
frequent
contributors
to
adaptation
and
speciation,
but
our
understanding
of
their
overall
fitness
consequences
is
limited,
with
data
analyses
primarily
available
for
humans
short-lived
domesticated
species.
Here,
we
use
31
high-quality
genome
assemblies
study
the
evolutionary
impact
SVs
among
natural
populations
Theobroma
cacao
.
We
find
that
most
deleterious
thus
constrain
adaptation.
These
detrimental
effects
likely
arise
as
a
direct
result
impaired
gene
function
an
indirect
suppressed
recombination.
Yet
detect
several
may
contribute
local
mainly
through
traits
involved
in
pathogen
resistance.
Overall,
provide
important
insight
into
processes
underlying
populations.
Philosophical Transactions of the Royal Society B Biological Sciences,
Journal Year:
2022,
Volume and Issue:
377(1856)
Published: June 13, 2022
Across
many
species
where
inversions
have
been
implicated
in
local
adaptation,
genomes
often
evolve
to
contain
multiple,
large
that
arise
early
divergence.
Why
this
occurs
has
yet
be
resolved.
To
address
gap,
we
built
forward-time
simulations
which
flexible
characteristics
and
can
invade
a
metapopulation
undergoing
spatially
divergent
selection
for
highly
polygenic
trait.
In
our
simulations,
typically
arose
divergence,
captured
standing
genetic
variation
upon
mutation,
then
accumulated
small-effect
loci
over
time.
Under
special
conditions,
could
also
late
adaptation
capture
locally
adapted
alleles.
Polygenic
behaved
similarly
single
supergene
of
effect
were
detectable
by
genome
scans.
Our
results
show
adaptive
found
empirical
studies
(e.g.
multiple
large,
old
are
F
ST
outliers,
sometimes
overlapping
with
other
inversions)
consistent
architecture,
do
not
need
any
large-effect
genes
play
an
important
role
adaptation.
By
combining
population
quantitative
framework,
give
deeper
understanding
the
specific
conditions
needed
involved
when
architecture
is
polygenic.
This
article
part
theme
issue
‘Genomic
supergenes:
causes
evolutionary
consequences’.