Proceedings of the National Academy of Sciences,
Journal Year:
2024,
Volume and Issue:
121(26)
Published: June 18, 2024
Neandertals
and
Denisovans,
having
inhabited
distinct
regions
in
Eurasia
possibly
Oceania
for
over
200,000
y,
experienced
ample
time
to
adapt
diverse
environmental
challenges
these
presented.
Among
present-day
human
populations,
Papua
New
Guineans
(PNG)
stand
out
as
one
of
the
few
carrying
substantial
amounts
both
Neandertal
Denisovan
DNA,
a
result
past
admixture
events
with
archaic
groups.
This
study
investigates
distribution
introgressed
DNA
within
two
PNG
residing
highlands
Mt
Wilhelm
lowlands
Daru
Island.
These
locations
exhibit
unique
features,
some
which
may
parallel
that
humans
once
confronted
adapted
to.
Our
results
show
highlanders
carry
higher
levels
compared
lowlanders.
Denisovan-like
haplotypes
frequencies
highlander
those
exhibiting
greatest
frequency
difference
lowlander
populations
also
demonstrate
more
pronounced
differences
population
than
frequency-matched
nonarchaic
variants.
Two
five
most
highly
differentiated
reside
genomic
areas
linked
brain
development
genes.
Conversely,
frequent
lowlanders
overlap
genes
associated
immune
response
processes.
findings
suggest
has
provided
genetic
variation
biology
genomes,
might
have
facilitated
adaptive
processes
challenges.
Nature,
Journal Year:
2024,
Volume and Issue:
633(8028), P. 165 - 173
Published: Aug. 14, 2024
The
intimate
relationship
between
the
epithelium
and
immune
system
is
crucial
for
maintaining
tissue
homeostasis,
with
perturbations
therein
linked
to
autoimmune
disease
cancer
Nature Communications,
Journal Year:
2025,
Volume and Issue:
16(1)
Published: Feb. 10, 2025
Genomic
structural
variants
(SVs)
are
a
major
source
of
genetic
diversity
in
humans.
Here,
through
long-read
sequencing
945
Han
Chinese
genomes,
we
identify
111,288
SVs,
including
24.56%
unreported
variants,
many
with
predicted
functional
importance.
By
integrating
human
population-level
phenotypic
and
multi-omics
data
as
well
two
humanized
mouse
models,
demonstrate
the
causal
roles
SVs:
one
SV
that
emerges
at
common
ancestor
modern
humans,
Neanderthals,
Denisovans
GSDMD
for
bone
mineral
density
modern-human-specific
WWP2
impacting
height,
weight,
fat,
craniofacial
phenotypes
immunity.
Our
results
suggest
could
serve
rapid
cost-effective
biomarker
assessing
risk
cisplatin-induced
acute
kidney
injury.
The
conservation
from
to
widespread
signals
positive
natural
selection
both
SVs
likely
influence
local
adaptation,
diversity,
disease
susceptibility
across
diverse
populations.
Genetic
studies
individuals
have
been
performed,
but
mostly
short
read
sequencing,
limiting
types
can
be
identified.
authors
perform
long
han
individuals,
finding
under
those
associated
traits
evolutionary
history.
Nature Communications,
Journal Year:
2025,
Volume and Issue:
16(1)
Published: March 26, 2025
Chromatin
topology
can
impact
gene
regulation,
but
how
evolutionary
divergence
in
chromatin
has
shaped
regulatory
landscapes
for
distinctive
human
traits
remains
poorly
understood.
CTCF
sites
determine
by
forming
domains
and
loops.
Here,
we
show
CTCF-mediated
at
the
domain
loop
scales
during
primate
evolution,
elucidating
distinct
mechanisms
shaping
landscapes.
Human-specific
divergent
lead
to
a
broad
rewiring
of
transcriptional
Divergent
loops
concord
with
species-specific
enhancer
activity,
influencing
connectivity
target
genes
concordant
yet
constrained
manner.
Under
this
mechanism,
establish
role
human-specific
isoform
diversity,
functional
implications
disease
susceptibility.
Furthermore,
validate
function
these
using
forebrain
organoids.
This
study
advances
our
understanding
genetic
evolution
from
perspective
genome
architecture.
regulation.
Wu
et
al.
that
changes
structure,
particularly
loops,
drive
diversity
contributing
traits.
Biology,
Journal Year:
2023,
Volume and Issue:
12(6), P. 788 - 788
Published: May 30, 2023
AD
is
a
complex,
progressive,
age-related
neurodegenerative
disorder
representing
the
most
common
cause
of
senile
dementia
and
neurological
dysfunction
in
our
elderly
domestic
population.
The
widely
observed
heterogeneity
reflection
complexity
process
itself
altered
molecular-genetic
mechanisms
operating
diseased
human
brain
CNS.
One
key
players
this
complex
regulation
gene
expression
pathological
neurobiology
are
microRNAs
(miRNAs)
that,
through
their
actions,
shape
transcriptome
cells
that
normally
associate
with
very
high
rates
genetic
activity,
transcription
messenger
RNA
(mRNA)
generation.
analysis
miRNA
populations
characterization
abundance,
speciation
can
further
provide
valuable
clues
to
understanding
process,
especially
sporadic
forms
disorder.
Current
in-depth
analyses
high-quality
age-
gender-matched
control
tissues
providing
pathophysiological
miRNA-based
signatures
serve
as
basis
for
expanding
mechanistic
future
design
miRNA-
related
RNA-based
therapeutics.
This
focused
review
will
consolidate
findings
from
multiple
laboratories
which
abundant
species,
both
free
exosome-bound
CNS,
species
appear
be
prominently
affected
by
recent
developments
advancements
signaling
hippocampal
CA1
region
AD-affected
brains.
The EMBO Journal,
Journal Year:
2024,
Volume and Issue:
43(8), P. 1388 - 1419
Published: March 21, 2024
Abstract
Neocortex
expansion
during
evolution
is
linked
to
higher
numbers
of
neurons,
which
are
thought
result
from
increased
proliferative
capacity
and
neurogenic
potential
basal
progenitor
cells
development.
Here,
we
show
that
EREG
,
encoding
the
growth
factor
EPIREGULIN,
expressed
in
human
developing
neocortex
gorilla
cerebral
organoids,
but
not
mouse
neocortex.
Addition
EPIREGULIN
increases
proliferation
cells,
whereas
ablation
cortical
organoids
reduces
subventricular
zone.
Treatment
with
promotes
a
further
increase
cells.
competes
epidermal
(EGF)
promote
proliferation,
inhibition
EGF
receptor
abrogates
EPIREGULIN-mediated
Finally,
identify
putative
cis-regulatory
elements
may
contribute
observed
inter-species
differences
expression.
Our
findings
suggest
species-specific
regulation
expression
size
primates
by
providing
tunable
pro-proliferative
signal
