Italian Journal of Animal Science,
Journal Year:
2023,
Volume and Issue:
22(1), P. 769 - 783
Published: Aug. 10, 2023
In
this
study
we
investigated
the
genetic
variability,
inbreeding
and
allele
frequencies
of
monogenic
traits
in
seven
herds
Holstein
breed
provided
insight
to
farmers
on
value
genomic
management
reproduction
their
herds.
A
total
3,953
cows
were
sampled
genotyped
with
Neogen
GGP
Bovine
100K
SNP
chip
within
activities
Regione
Lombardia
funded
GO-PEI
project
'GENOmic
tool
for
dairy
cattle
control
–
GENORIP'.
Principal
component
analysis
was
applied
analysing
variability
among
farms
using
SVS
software
Golden
Helix.
Run
Homozygosity
(ROH)
obtained
detectRUNS
package
R
software.
Genotype
mendelian
disease,
fertility
production
also
obtained.
458,267
ROH
identified
distributed
all
autosomes
an
average
length
2,703,811
bp
covering
12.7%
genome.
Several
regions
appear
under
selection,
while
a
specific
region
BTA4
one
herd,
harbouring
genes
mainly
related
selection
strategy
farmer.
The
FROH
values
considering
greater
than
16
Mb,
varied
from
0.004
0.325,
highest
0.136.
Among
heritable
diseases,
Haplotype
Cholesterol
Deficiency
largest
proportion
carrier
animals,
i.e.
5.6%.
herd-tailored
process
assist
released.
distribution
together
genotype
traits,
suggest
that
similar
directional
is
occurring
across
This
released
each
farmer
make-up
herd
used
jointly
gEBV
estimated
by
national
breeders'
association
(ANAFIBJ)
reproductive
management.
Genetics Selection Evolution,
Journal Year:
2022,
Volume and Issue:
54(1)
Published: April 28, 2022
Abstract
Background
The
importance
of
local
breeds
as
genetic
reservoirs
valuable
variation
is
well
established.
Pig
breeding
in
Central
and
South-Eastern
Europe
has
a
long
tradition
that
led
to
the
formation
several
pig
breeds.
In
present
study,
diversity
parameters
were
analysed
six
autochthonous
from
Slovenia,
Croatia
Serbia
(Banija
spotted,
Black
Slavonian,
Turopolje
pig,
Swallow-bellied
Mangalitsa,
Moravka
Krskopolje
pig).
Animals
each
these
genotyped
using
microsatellites
single
nucleotide
polymorphisms
(SNPs).
results
obtained
with
two
marker
systems
those
based
on
pedigree
data
compared.
addition,
we
estimated
inbreeding
levels
distribution
runs
homozygosity
(ROH)
identified
genomic
regions
under
selection
pressure
ROH
islands
integrated
haplotype
score
(iHS).
Results
lowest
heterozygosity
values
calculated
microsatellite
SNP
observed
pig.
was
higher
than
expected
Both
types
markers
allowed
us
distinguish
clusters
individuals
belonging
breed.
analysis
admixture
between
revealed
potential
gene
flow
Mangalitsa
Moravka,
but
no
introgression
events
detected
Banija
spotted
across
genome
not
uniform.
Analysis
an
extremely
high
frequency
shared
within
which
harboured
genes
associated
cholesterol
biosynthesis,
fatty
acid
metabolism
daily
weight
gain.
iHS
approach
detect
signatures
candidate
containing
roles
reproduction
traits
disease
resistance.
Conclusions
Based
estimation
population
three
sets,
showed
existence
relationships
among
here.
estimate
level
extent
homozygous
potentially
phenotypic
detection
pressure.
Scientific Reports,
Journal Year:
2022,
Volume and Issue:
12(1)
Published: May 5, 2022
Preserving
diversity
of
indigenous
pig
(Sus
scrofa)
breeds
is
a
key
factor
to
(i)
sustain
the
pork
chain
(both
at
local
and
global
scales)
including
production
high-quality
branded
products,
(ii)
enrich
animal
biobanking
(iii)
progress
conservation
policies.
Single
nucleotide
polymorphism
(SNP)
chips
offer
opportunity
for
whole-genome
comparisons
among
individuals
breeds.
Animals
from
twenty
European
pigs
breeds,
reared
in
nine
countries
(Croatia:
Black
Slavonian,
Turopolje;
France:
Basque,
Gascon;
Germany:
Schwabisch-Hällisches
Schwein;
Italy:
Apulo
Calabrese,
Casertana,
Cinta
Senese,
Mora
Romagnola,
Nero
Siciliano,
Sarda;
Lithuania:
Indigenous
Wattle,
White
Old
Type;
Portugal:
Alentejana,
Bísara;
Serbia:
Moravka,
Swallow-Bellied
Mangalitsa;
Slovenia:
Krškopolje
pig;
Spain:
Iberian,
Majorcan
Black),
three
commercial
(Duroc,
Landrace
Large
White)
were
sampled
genotyped
with
GeneSeek
Genomic
Profiler
(GGP)
70
K
HD
porcine
genotyping
chip.
A
dataset
51
Wild
Boars
was
also
added,
summing
up
1186
(~
49
pigs/breed).
The
aim
to:
investigate
individual
admixture
ancestries
assess
breed
traceability
via
discriminant
analysis
on
principal
components
(DAPC).
Albeit
mosaic
shared
found
Sarda
indicated
independent
evolvement
rest
High
prediction
accuracy
DAPC
mark
SNP
data
as
reliable
solution
breed-specific
products.
Genetics Selection Evolution,
Journal Year:
2025,
Volume and Issue:
57(1)
Published: March 6, 2025
Metabolomics
opens
novel
avenues
to
study
the
basic
biological
mechanisms
underlying
complex
traits,
starting
from
characterization
of
metabolites.
Metabolites
and
their
levels
in
a
biofluid
represent
simple
molecular
phenotypes
(metabotypes)
that
are
direct
products
enzyme
activities
relate
all
metabolic
pathways,
including
catabolism
anabolism
nutrients.
In
this
study,
we
demonstrated
utility
merging
metabolomics
genomics
pigs
uncover
large
list
genetic
factors
influence
mammalian
metabolism.
We
obtained
targeted
plasma
metabolome
more
than
1300
two
populations
Large
White
Duroc
pig
breeds.
The
metabolomic
profiles
these
were
used
identify
genetically
influenced
metabolites
by
estimating
heritability
level
188
Then,
combining
breed-specific
genome-wide
association
studies
single
ratios
across
breed
meta-analyses,
identified
total
97
metabolite
quantitative
trait
loci
(mQTL),
associated
with
126
Using
results,
constructed
human-pig
comparative
catalog
influencing
profile.
Whole
genome
resequencing
data
several
putative
causative
mutations
for
mQTL.
Additionally,
based
on
major
mQTL
kynurenine
level,
designed
nutrigenetic
feeding
piglets
carried
different
genotypes
at
candidate
gene
3-monooxygenase
(KMO)
varying
tryptophan
effect
factor
pathway.
Furthermore,
reconstruct
pathways
using
Gaussian
Graphical
Models,
which
included
perturbation
This
has
provided
first
affecting
describe
blood
metabolome,
links
important
opening
merge
genetics
nutrition
livestock
species.
results
relevant
applied
biology
evaluate
as
biomedical
model.
Genetically
can
be
further
exploited
approaches
pigs.
described
useful
dissect
traits
design
feeding,
breeding
selection
programs
Genes,
Journal Year:
2025,
Volume and Issue:
16(3), P. 316 - 316
Published: March 7, 2025
Background:
Quantifying
and
controlling
the
inbreeding
level
in
livestock
populations
is
crucial
for
long-term
sustainability
of
animal
husbandry.
However,
extent
has
not
been
fully
understood
sheep
on
a
global
scale.
Methods:
Here,
we
analyzed
high-depth
genomes
210
from
20
worldwide
breeds
to
identify
pattern
distribution
genome-wide
runs
homozygosity
(ROH)
detect
candidate
selected
genes
ROH
islands
agronomic
phenotypic
traits.
Results:
Leveraging
whole-genome
sequencing
data,
found
large
number
short
(e.g.,
<1.0
Mb)
all
observed
overall
higher
values
statistics
coefficient
European
than
Asian
Dorper
sheep.
We
identified
some
well-known
CAMK4,
HOXA
gene
family,
ALOX12,
FGF11,
MTOR)
40
novel
KLHL1,
FGFRL1,
WDR62,
GDF6,
KHDRBS2,
PAX1)
that
are
functionally
associated
with
fecundity,
body
size,
wool-related
traits
Based
genes,
revealed
different
genetic
bases
fecundity
Conclusions:
This
study
improves
resolution
detection
provides
new
insights
into
genomic
trait
architecture
as
well
useful
markers
future
breeding
practice.
Agriculture,
Journal Year:
2025,
Volume and Issue:
15(7), P. 761 - 761
Published: April 1, 2025
Researchers
focused
on
assessing
differences
in
gene
diversity
within
and
between
populations,
whether
cosmopolitan
or
local.
However,
the
identification
of
patterns
variation
non-random
heterozygous
genomic
stretches,
known
as
Heterozygosity-Rich
regions
(HRRs),
has
not
yet
been
determined
European
local
pig
breeds.
A
total
23
breeds
(20
3
cosmopolitan)
were
assessed
compared
terms
heterozygosity-rich
regions.
The
with
highest
number
HRRs
Large
White,
Lithuanian
Old
type,
Landrace,
followed
by
Native,
Mora
Romagnola,
Duroc.
lowest
Alentejana,
Iberian,
Majorcan
Black.
No
shared
HRR
islands
found
all
breeds,
but
enrichment
analysis
performed
most
common
revealed
several
biologically
important
genes
that
cluster
together
play
significant
roles,
primarily
related
to
immune
system.
Permutation
indicated
some
serve
true
reservoirs
genetic
diversity,
displaying
distinct
unique
characteristics
heterozygosity.
This
study
suggests
importance
investigating
heterozygosity
develop
a
comprehensive
picture
regardless
production
system,
country
origin,
population
size.
Frontiers in Veterinary Science,
Journal Year:
2022,
Volume and Issue:
9
Published: March 8, 2022
Runs
of
homozygosity
(ROH)
are
widely
used
to
investigate
genetic
diversity,
demographic
history,
and
positive
selection
signatures
livestock.
Commercial
breeds
provide
excellent
materials
reveal
the
landscape
ROH
shaped
during
intense
process.
Here,
we
GeneSeek
Porcine
50K
single-nucleotide
polymorphism
(SNP)
Chip
data
3,770
American
Duroc
(AD)
2,096
Canadian
(CD)
pigs
analyze
genome-wide
ROH.
First,
showed
that
AD
had
a
moderate
differentiation
with
CD
pigs,
more
abundant
diversity
significantly
lower
level
inbreeding
than
pigs.
In
addition,
sows
larger
levels
boars
in
These
differences
may
be
caused
by
selective
intensity.
Next,
hotspots
revealed
many
candidate
genes
putatively
under
for
growth,
sperm,
muscle
development
two
lines.
Population-specific
ROHs
inferred
have
special
female
reproduction,
while
immunity.
Moreover,
overlapping
populations,
observed
missense
mutation
(rs81216249)
located
growth
fat
deposition-related
supergene
(
Animal Genetics,
Journal Year:
2024,
Volume and Issue:
55(2), P. 193 - 205
Published: Jan. 8, 2024
Abstract
Large
genotyping
datasets,
obtained
from
high‐density
single
nucleotide
polymorphism
(SNP)
arrays,
developed
for
different
livestock
species,
can
be
used
to
describe
and
differentiate
breeds
or
populations.
To
identify
the
most
discriminating
genetic
markers
among
thousands
of
genotyped
SNPs,
a
few
statistical
approaches
have
been
proposed.
In
this
study,
we
applied
Boruta
algorithm,
wrapper
machine
learning
random
forest
on
database
23
European
pig
(20
autochthonous
three
cosmopolitan
breeds)
with
70k
SNP
chip,
pre‐select
informative
SNPs.
sets
these
pre‐selected
were
then
ranked
based
their
mean
decrease
accuracy
gene
indexes.
We
evaluated
efficiency
subsets
breed
classification
usefulness
approach
detect
candidate
genes
affecting
breed‐specific
phenotypes
relevant
production
traits
that
might
differ
breeds.
The
lowest
overall
error
(2.3%)
was
reached
subpanel
including
only
398
SNPs
(ranked
accuracy),
no
in
seven
using
up
49
Several
selected
subpanels
genomic
regions
which
previous
studies
had
identified
signatures
selection
associated
morphological
distinguish
analysed
Therefore,
even
if
not
originally
designed
selection,
results
showed
they
could
potentially
useful
purpose.
Journal of Dairy Science,
Journal Year:
2021,
Volume and Issue:
105(3), P. 2408 - 2425
Published: Dec. 23, 2021
Reggiana
and
Modenese
are
autochthonous
cattle
breeds,
reared
in
the
North
of
Italy,
that
can
be
mainly
distinguished
for
their
standard
coat
color
(Reggiana
is
red,
whereas
white
with
some
pale
gray
shades).
Almost
all
milk
produced
by
these
breeds
transformed
into
2
mono-breed
branded
Parmigiano-Reggiano
cheeses,
from
which
farmers
receive
economic
incomes
needed
sustainable
conservation
animal
genetic
resources.
After
setting
up
herd
books
1960s,
experienced
a
strong
reduction
population
size
was
subsequently
reverted
starting
1990s
(Reggiana)
or
more
recently
(Modenese)
reaching
at
present
total
about
2,800
500
registered
cows,
respectively.
Due
to
small
inbreeding
very
important
cause
concern
programs.
Inbreeding
traditionally
estimated
using
pedigree
data,
summarized
an
coefficient
calculated
individual
level
(FPED).
However,
incompleteness
information
registration
errors
affect
effectiveness
strategies.
High-throughput
SNP
genotyping
platforms
allow
investigation
genome
overcome
limits
data.
Several
approaches
have
been
proposed
estimate
genomic
inbreeding,
use
runs
homozygosity
(ROH)
considered
appropriate.
In
this
study,
several
parameters,
whole
book
populations
considering
(GeneSeek
GGP
Bovine
150K)
1,684
323
cattle,
were
compared.
Average
values
per
year
used
calculate
effective
size.
breed
had
generally
lower
than
breed.
The
low
correlation
between
pedigree-based
genomic-based
parameters
(ranging
0.187
0.195
0.319
0.323
respectively)
reflected
common
problems
local
records
not
complete.
high
proportion
short
ROH
over
number
indicates
no
major
recent
events
both
breeds.
islands
spread
(15
14
Modenese)
identified
signatures
selection.
Some
included
genes
affecting
production
traits,
stature,
body
conformation
traits
(with
main
island
on
BTA6
containing
ABCG2,
NCAPG,
LCORL
genes)
(on
BTA13
ASIP
gene).
conclusion,
work
provides
extensive
comparative
analysis
relevant
will
useful
strategies
iconic
Journal of Animal Breeding and Genetics,
Journal Year:
2022,
Volume and Issue:
139(3), P. 292 - 306
Published: Jan. 4, 2022
Natural
adaptation
and
artificial
selection
have
shaped
the
genome
of
modern
livestock
breeds.
Among
SNP-based
metrics
that
are
used
to
detect
signatures
at
genome-wide
level,
runs
homozygosity
(ROH)
getting
increasing
popularity.
In
this
paper,
ROH
distribution
features
a
sample
823
Sarda
breed
ewes
farmed
different
levels
altitude
analysed
investigate
effect
environment
on
patterns
homozygosity.
A
total
46,829
(33,087
unique)
were
detected.
OAR2
exhibited
largest
average
number
per
animal.
The
most
frequent
(OAR27,
38.9-44.2
Mb)
was
shared
by
327.
length
statistically
affected
(p
<
0.001)
both
temperature
place
where
flock
located.
highest
probability
SNP
falling
in
observed
for
hill
ewes,
whereas
smallest
one
mountain.
457
exceeded
99th
percentile
count
considered
significant.
These
markers
mapped
eight
chromosomes
they
clustered
into
17
islands,
80
candidate
genes
mapped.
Results
study
highlighted
differences
among
sheep
flocks
located
altitude,
confirming
role
environmental
adaptability
shaping
breed.
Animal Genetics,
Journal Year:
2023,
Volume and Issue:
54(5), P. 591 - 605
Published: June 28, 2023
Analysis
of
genomic
data
is
becoming
more
and
common
for
the
effective
management
livestock
breeding
programmes,
even
in
case
local
populations.
In
this
work,
genome-wide
Nero
Siciliano
pig
breed
were
compared
to
that
wild
boar,
Italian
cosmopolitan
breeds
investigate
its
genetic
structure,
runs
homozygosity
(ROH)
heterozygosity
patterns.
The
has
been
reported
have
highest
rate
diversity
among
breeds,
a
variability
comparable
breeds.
Analyses
structure
relationships
underlined
proximity
an
internal
substructure
probably
linked
different
family
lines.
showed
low
value
inbreeding
estimated
from
ROH,
index
if
lower
than
cosmopolitans.
Four
ROH
islands
three
chromosomes
(SSC8,
SSC11,
SSC14)
one
heterozygosity-rich
region
(SSC1)
identified
Siciliano,
highlighting
regions
related
productive
QTL.
Across
SSC8
SSC14
with
most
islands,
Mora
Romagnola
boar
showing
level
autozygosity.
Chromosomes
SSC2,
SSC6,
SSC13
majority
regions,
mainly
found
which
several
genes
associated
health-related
outlined
results
can
help
better
identify
profile
order
plan
matings,
maintain
adequate
exploit
production
system.