BMC Genomics,
Journal Year:
2024,
Volume and Issue:
25(1)
Published: Nov. 25, 2024
Comprehensive
characterizations
of
genetic
diversity
and
demographic
models
ethnolinguistically
diverse
Chinese
populations
are
essential
for
elucidating
their
forensic
characteristics
evolutionary
past.
We
developed
a
114-plex
NGS
InDel
panel
to
genotype
114
genome-wide
markers
investigated
the
structures
Zhuang,
Hui,
Miao,
Li,
Tibetan,
Yi,
Mongolian
populations,
encompassing
five
language
families.
This
demonstrated
robust
performance,
with
exceptional
potential
individual
identification
paternity
testing,
evidenced
by
combined
power
discrimination
77
autosomal
InDels
(ranged
from
1-3.6400
×
10
Molecular Biology and Evolution,
Journal Year:
2024,
Volume and Issue:
41(7)
Published: June 17, 2024
Abstract
Large-scale
genomic
projects
and
ancient
DNA
innovations
have
ushered
in
a
new
paradigm
for
exploring
human
evolutionary
history.
However,
the
genetic
legacy
of
spatiotemporally
diverse
Eurasians
within
Chinese
paternal
lineages
remains
unresolved.
Here,
we
report
an
integrated
Y-chromosome
database
encompassing
15,563
individuals
from
both
modern
Eurasians,
including
919
newly
reported
individuals,
to
investigate
diversity.
The
high-resolution,
time-stamped
phylogeny
reveals
multiple
diversification
events
extensive
expansions
early
middle
Neolithic.
We
identify
four
major
population
movements,
each
associated
with
technological
that
shaped
landscape.
First,
expansion
East
Asians
millet
farmers
Yellow
River
Basin
predominantly
carrying
O2/D
subclades
significantly
influenced
formation
Sino-Tibetan
people
facilitated
permanent
settlement
Tibetan
Plateau.
Second,
dispersal
rice
Yangtze
Valley
O1
certain
O2
sublineages
reshapes
makeup
southern
Han
Chinese,
as
well
Tai-Kadai,
Austronesian,
Hmong-Mien,
Austroasiatic
people.
Third,
Neolithic
Siberian
Q/C
originated
proliferated
among
hunter-gatherers
on
Mongolian
Plateau
Amur
Basin,
leaving
significant
imprint
gene
pools
northern
China.
Fourth,
J/G/R
derived
western
Eurasia,
which
were
initially
spread
by
Yamnaya-related
steppe
pastoralists,
maintain
their
presence
primarily
northwestern
Overall,
our
research
provides
comprehensive
evidence
elucidating
impact
interactions
culturally
distinct
patterns
diversity
populations.
BMC Biology,
Journal Year:
2024,
Volume and Issue:
22(1)
Published: March 6, 2024
Abstract
Background
The
underrepresentation
of
human
genomic
resources
from
Southern
Chinese
populations
limited
their
health
equality
in
the
precision
medicine
era
and
complete
understanding
genetic
formation,
admixture,
adaptive
features.
Besides,
linguistical
evidence
supported
controversial
hypothesis
origin
processes.
One
hotspot
case
was
Guangxi
Pinghua
Han
people
(GPH),
whose
language
significantly
similar
to
dialects
but
uniparental
gene
pool
phylogenetically
associated
with
indigenous
Tai-Kadai
(TK)
people.
Here,
we
analyzed
genome-wide
SNP
data
619
four
families
56
geographically
different
populations,
which
261
21
distinct
were
first
reported
here.
Results
We
identified
significant
population
stratification
among
ethnolinguistically
diverse
suggesting
differentiated
admixture
GPH
shared
more
alleles
related
Zhuang
than
received
northern
ancestry
relative
Zhuang.
Admixture
models
estimates
distances
showed
that
had
a
close
relationship
TK
compared
Northern
Chinese,
supporting
hypothesis.
Further
time
demographic
history
reconstruction
formed
via
between
robust
signatures
lipid
metabolisms,
such
as
fatty
acid
desaturases
(FADS)
medically
relevant
loci
Mendelian
disorder
(GJB2)
complex
diseases.
also
explored
unique
selection
ethnically
linguistically
lineages
found
some
signals
immune
malaria
resistance.
Conclusions
Our
analysis
illuminated
language-related
fine-scale
structure
provided
support
can
explain
pattern
observed
diversity
formation
GPH.
This
work
presented
one
comprehensive
focused
on
demographical
adaptative
process,
for
personal
management
disease
risk
prediction
large-scale
whole-genome
sequencing
projects
would
provide
entire
landscape
southern
contributions
traits.
Journal of genetics and genomics/Journal of Genetics and Genomics,
Journal Year:
2024,
Volume and Issue:
unknown
Published: July 1, 2024
Genetic
genealogy
provides
crucial
insights
into
the
complex
biological
relationships
within
contemporary
and
ancient
human
populations
by
analyzing
shared
alleles
chromosomal
segments
that
are
identical
descent,
to
understand
kinship,
migration
patterns,
population
dynamics.
Within
forensic
science,
investigative
genetic
(FIGG)
has
gained
prominence
leveraging
next-generation
sequencing
technologies
population-specific
genomic
resources,
opening
new
avenues.
In
this
review,
we
synthesize
current
knowledge,
underscore
recent
advancements,
discuss
growing
role
of
FIGG
in
genomics.
been
pivotal
revitalizing
dormant
inquiries
offering
leads
numerous
cold
cases.
Its
effectiveness
relies
on
extensive
SNP
profiles
contributed
individuals
from
diverse
specialized
databases.
Advances
computational
genomics
growth
databases
have
spurred
a
profound
shift
application
across
forensics,
anthropology,
DNA
studies.
As
field
progresses,
is
evolving
nascent
practice
more
sophisticated
discipline,
shaping
future
investigations.
BMC Biology,
Journal Year:
2024,
Volume and Issue:
22(1)
Published: Jan. 25, 2024
Abstract
Background
The
underrepresentation
of
Hmong-Mien
(HM)
people
in
Asian
genomic
studies
has
hindered
our
comprehensive
understanding
the
full
landscape
their
evolutionary
history
and
complex
trait
architecture.
South
China
is
a
multi-ethnic
region
indigenously
settled
by
ethnolinguistically
diverse
HM,
Austroasiatic
(AA),
Tai-Kadai
(TK),
Austronesian
(AN),
Sino-Tibetan
(ST)
people,
which
regarded
as
East
Asia’s
initial
cradle
biodiversity.
However,
previous
fragmented
genetic
have
only
presented
fraction
diversity
this
region,
especially
lack
haplotype-based
resources.
deep
characterization
demographic
natural-selection-relevant
architecture
HM
was
necessary.
Results
We
reported
one
HM-specific
resource
comprehensively
explored
fine-scale
structure
adaptative
features
inferred
from
genome-wide
SNP
data
440
individuals
33
ethnolinguistic
populations,
including
previously
unreported
She.
identified
solid
differentiation
between
Han
Chinese
at
7.64‒15.86
years
ago
(kya)
split
events
southern
inland
(Miao/Yao)
coastal
(She)
middle
Bronze
Age
period
latter
obtained
more
gene
flow
Ancient
Northern
Asians.
Multiple
admixture
models
further
confirmed
that
extensive
surrounding
ST,
TK,
AN
entangled
forming
pool
people.
Genetic
findings
isolated
shared
unique
ancestral
components
based
on
sharing
alleles
haplotypes
deconstructed
Yungui
Plateau
carried
breadth
unknown
diversity.
direct
recent
connection
Southeast
they
most
extended
identity-by-descent
fragments,
supporting
long-distance
migration
hypothesis.
Uniparental
phylogenetic
topology
network-based
relationship
reconstruction
found
ancient
uniparental
founding
lineages
southwestern
Finally,
population-specific
biological
adaptation
study
differentiated
natural
selection
signatures
among
associated
with
physical
immune
functions.
allele
frequency
spectrum
cancer
susceptibility
pharmacogenomic
genes
showed
significant
differences
northern
Conclusions
Our
evidence
combined
historical
documents
supported
view
originated
regions
“Three-Miao
tribes”
descended
Daxi-Qujialing-Shijiahe
Then,
some
recently
migrated
rapidly
to
Asia,
eastward
mixed
respectively
indigenes,
Liangzhu-related
incoming
southward
ST
Generally,
population
migration,
admixture,
contributed
complicated
patterns
geographically
Heliyon,
Journal Year:
2024,
Volume and Issue:
10(8), P. e29235 - e29235
Published: April 1, 2024
Pathogen‒host
adaptative
interactions
and
complex
population
demographical
processes,
including
admixture,
drift,
Darwen
selection,
have
considerably
shaped
the
Neolithic-to-Modern
Western
Eurasian
structure
genetic
susceptibility
to
modern
human
diseases.
However,
footprints
of
evolutionary
events
in
East
Asia
remain
unknown
due
underrepresentation
genomic
diversity
design
large-scale
studies.
We
reported
one
aggregated
database
genome-wide
SNP
variations
from
796
Tai-Kadai
(TK)
genomes,
that
Bouyei
first
here,
explore
history,
structure,
biological
features
TK
people
southern
China
Southeast
Asia.
found
geography-related
substructure
among
using
state-of-the-art
reconstruction
techniques
based
on
allele
frequency
spectrum
haplotype-resolved
phased
fragments.
northern
Guizhou
harbored
TK-dominant
ancestry
maximized
people,
Thailand
were
more
influenced
by
Asians
indigenous
people.
reconstructed
fitted
admixture
models
demographic
graphs,
which
showed
received
gene
flow
ancient
rice
farmer-related
lineages
related
Hmong-Mien
Austroasiatic
millet
farmers
associated
with
Sino-Tibetan
Biological
adaptation
focused
our
identified
unique
Bouyei,
many
adaptive
signatures
conferring
Malaria
resistance
low-rate
lipid
metabolism.
Further
enrichment,
distribution
derived
alleles,
their
correlation
incidence
further
confirmed
BMC Genomics,
Journal Year:
2024,
Volume and Issue:
25(1)
Published: June 18, 2024
Abstract
Background
Ancient
northern
East
Asians
(ANEA)
from
the
Yellow
River
region,
who
pioneered
millet
cultivation,
play
a
crucial
role
in
understanding
origins
of
ethnolinguistically
diverse
populations
modern
China
and
entire
landscape
deep
genetic
structure
variation
discovery
Asians.
However,
direct
links
between
ANEA
geographically
proximate
populations,
as
well
biological
adaptive
processes
involved,
remain
poorly
understood.
Results
Here,
we
generated
genome-wide
SNP
data
for
264
individuals
different
Han
Shandong.
An
integrated
genomic
resource
encompassing
both
ancient
was
compiled
to
examine
fine-scale
population
admixture
scenarios
traits.
The
reconstruction
demographic
history
hierarchical
clustering
patterns
revealed
that
Shandong
Peninsula
share
close
affinity
with
ANEA,
indicating
long-term
continuity
mobility
lower
basin
since
early
Neolithic
period.
Biological
signatures,
including
those
related
immune
metabolic
pathways,
were
identified
through
analyses
haplotype
homozygosity
allele
frequency
spectra.
These
signatures
are
linked
complex
traits
such
height
body
mass
index,
which
may
be
associated
adaptations
cold
environments,
dietary
practices,
pathogen
exposure.
Additionally,
trajectories
over
time
network
two
highly
differentiated
genes,
ABCC11
SLC10A1
,
delineated.
axillary
odor
bilirubin
metabolism,
respectively,
illustrate
how
local
can
influence
diversification
Conclusions
Our
findings
provide
comprehensive
dataset
elucidates
evolutionary
trajectory
natural
selection
signals
disease
susceptibility
Chinese
populations.
This
study
serves
paradigm
integrating
spatiotemporally
genomes
era
medicine.
BMC Biology,
Journal Year:
2025,
Volume and Issue:
23(1)
Published: Jan. 21, 2025
The
advancements
in
second-/third-generation
sequencing
technologies,
alongside
computational
innovations,
have
significantly
enhanced
our
understanding
of
the
genomic
structure
Y-chromosomes
and
their
unique
phylogenetic
characteristics.
These
researches,
despite
challenges
posed
by
lack
population-scale
databases,
potential
to
revolutionize
approach
high-resolution,
population-specific
Y-chromosome
panels
databases
for
anthropological
forensic
applications.
This
study
aimed
develop
highest-resolution
Y-targeted
panel,
utilizing
time-stamped,
core
informative
mutations
identified
from
high-coverage
sequences
YanHuang
cohort.
panel
is
intended
provide
a
new
tool
complex
pedigree
search
paternal
biogeographical
ancestry
inference,
as
well
explore
general
patterns
fine-scale
evolutionary
history
ethnolinguistically
diverse
Chinese
populations.
performance
East
Asian-specific
Y-chromosomal
including
2999-core
SNP
variants,
was
found
be
robust
reliable.
YHSeqY3000
designed
capture
genetic
diversity
lineages
3500
years
ago,
identifying
408
terminal
2097
individuals
across
41
genetically
geographically
distinct
We
substructure
that
correlating
with
ancient
population
migrations
expansions.
New
evidence
provided
extensive
gene
flow
events
between
minority
ethnic
groups
Han
people,
based
on
integrative
Paternal
Genomic
Diversity
Database.
work
successfully
integrated
Y-chromosome-related
basic
science
translational
applications,
emphasizing
necessity
comprehensively
characterizing
genomically
under-representative
particularly
important
second
phase
medical
or
cohorts,
where
dense
sampling
strategies
are
employed.