Characterizing the Rates and Patterns of De Novo Germline Mutations in the Aye-Aye (Daubentonia madagascariensis)
Molecular Biology and Evolution,
Journal Year:
2025,
Volume and Issue:
42(3)
Published: March 1, 2025
Given
the
many
levels
of
biological
variation
in
mutation
rates
observed
to
date
primates-spanning
from
species
individuals
genomic
regions-future
steps
our
understanding
rate
evolution
will
not
only
be
aided
by
a
greater
breadth
coverage
across
primate
clade
but
also
depth
as
afforded
an
evaluation
multiple
trios
within
individual
species.
In
order
help
bridge
these
gaps,
we
here
present
analysis
representing
one
most
basal
splits
on
tree
(aye-ayes),
combining
whole-genome
sequencing
seven
parent-offspring
three-generation
pedigree
with
novel
computational
pipeline
that
takes
advantage
recently
developed
pan-genome
graphs,
thereby
circumventing
application
(highly
subjective)
quality
metrics
has
previously
been
shown
result
notable
differences
detection
de
novo
mutations
and
ultimately
estimates
rates.
This
deep
sampling
enabled
both
detailed
picture
parental
age
effects
sex
dependency
rates,
which
compare
studied
primates,
provided
unique
insights
into
nature
genetic
endangered
primates
planet.
Language: Английский
Characterizing the rates and patterns ofde novogermline mutations in the aye-aye (Daubentonia madagascariensis)
bioRxiv (Cold Spring Harbor Laboratory),
Journal Year:
2024,
Volume and Issue:
unknown
Published: Nov. 11, 2024
Given
the
many
levels
of
biological
variation
in
mutation
rates
observed
to
date
primates
-
spanning
from
species
individuals
genomic
regions
future
steps
our
understanding
rate
evolution
will
be
aided
by
both
a
greater
breadth
coverage
across
primate
clade,
but
also
depth
as
afforded
an
evaluation
multiple
trios
within
individual
species.
In
order
help
bridge
these
gaps,
we
here
present
analysis
representing
one
most
basal
splits
on
tree
(aye-ayes),
combining
whole-genome
sequencing
seven
parent-offspring
three-generation
pedigree
with
novel
computational
pipeline
that
takes
advantage
recently
developed
pan-genome
graphs,
thereby
circumventing
application
(highly
subjective)
quality
metrics
has
previously
been
shown
result
notable
differences
detection
Language: Английский
Convergent evolution of epigenome recruited DNA repair across the Tree of Life
Published: April 17, 2025
Mutations
fuel
evolution
while
also
causing
diseases
like
cancer.
Epigenome-targeted
DNA
repair
can
help
organisms
protect
important
genomic
regions
from
mutation.
However,
the
adaptive
value,
mechanistic
diversity,
and
of
epigenome-targeted
systems
across
tree
life
remain
unresolved.
Here,
we
investigated
histone
reader
domains
fused
to
protein
MSH6
(MutS
Homolog
6)
over
4,000
eukaryotes.
We
uncovered
a
paradigmatic
example
convergent
evolution:
has
independently
acquired
distinct
domains;
PWWP
(metazoa)
Tudor
(plants),
previously
shown
target
modifications
in
active
genes
humans
(H3K36me3)
Arabidopsis
(H3K4me1).
Conservation
shows
signatures
natural
selection,
particularly
for
amino
acids
that
bind
specific
modifications.
Species
have
gained
or
retained
readers
tend
larger
genome
sizes,
especially
marked
by
significantly
more
introns
genic
regions.
These
patterns
support
previous
theoretical
predictions
about
co-evolution
architectures
mutation
rate
heterogeneity.
The
implications
evolution,
health,
mutational
origins
genetic
diversity
life.
Language: Английский
Convergent evolution of epigenome recruited DNA repair across the Tree of Life
Published: April 17, 2025
Mutations
fuel
evolution
while
also
causing
diseases
like
cancer.
Epigenome-targeted
DNA
repair
can
help
organisms
protect
important
genomic
regions
from
mutation.
However,
the
adaptive
value,
mechanistic
diversity,
and
of
epigenome-targeted
systems
across
tree
life
remain
unresolved.
Here,
we
investigated
histone
reader
domains
fused
to
protein
MSH6
(MutS
Homolog
6)
over
4,000
eukaryotes.
We
uncovered
a
paradigmatic
example
convergent
evolution:
has
independently
acquired
distinct
domains;
PWWP
(metazoa)
Tudor
(plants),
previously
shown
target
modifications
in
active
genes
humans
(H3K36me3)
Arabidopsis
(H3K4me1).
Conservation
shows
signatures
natural
selection,
particularly
for
amino
acids
that
bind
specific
modifications.
Species
have
gained
or
retained
readers
tend
larger
genome
sizes,
especially
marked
by
significantly
more
introns
genic
regions.
These
patterns
support
previous
theoretical
predictions
about
co-evolution
architectures
mutation
rate
heterogeneity.
The
implications
evolution,
health,
mutational
origins
genetic
diversity
life.
Language: Английский
Convergent evolution of epigenome recruited DNA repair across the Tree of Life
bioRxiv (Cold Spring Harbor Laboratory),
Journal Year:
2024,
Volume and Issue:
unknown
Published: Oct. 18, 2024
Abstract
Mutations
fuel
evolution
while
also
causing
diseases
like
cancer.
Epigenome-targeted
DNA
repair
can
help
organisms
protect
important
genomic
regions
from
mutation.
However,
the
adaptive
value,
mechanistic
diversity,
and
of
epigenome-targeted
systems
across
tree
life
remain
unresolved.
Here,
we
investigated
histone
reader
domains
fused
to
protein
MSH6
(MutS
Homolog
6)
over
4,000
eukaryotes.
We
uncovered
a
paradigmatic
example
convergent
evolution:
has
independently
acquired
distinct
domains;
PWWP
(metazoa)
Tudor
(plants),
previously
shown
target
modifications
in
active
genes
humans
(H3K36me3)
Arabidopsis
(H3K4me1).
Conservation
shows
signatures
natural
selection,
particularly
for
amino
acids
that
bind
specific
modifications.
Species
have
gained
or
retained
readers
tend
larger
genome
sizes,
especially
marked
by
significantly
more
introns
genic
regions.
These
patterns
support
previous
theoretical
predictions
about
co-evolution
architectures
mutation
rate
heterogeneity.
The
implications
evolution,
health,
mutational
origins
genetic
diversity
life.
Short
Summary
Fusions
between
mismatch
evolved
multiple
times
Eukaryotes
show
evidence
providing
insight
into
forces
shaping
Language: Английский