Biological
differences
between
males
and
females
lead
to
many
in
physiology,
disease,
overall
health.
One
of
the
most
prominent
disparities
is
number
germline
mutations
passed
offspring:
human
transmit
three
times
as
do
females.
While
classic
explanation
for
this
pattern
invokes
post-puberty
replication
sexes,
recent
whole-genome
evidence
humans
other
mammals
has
cast
doubt
on
mechanism.
Here,
we
review
work
that
inconsistent
with
a
replication-driven
model
male-biased
mutation,
propose
an
alternative,
“faulty
male”
hypothesis.
Importantly,
suggest
new
mutation
may
also
help
explain
several
pronounced
sexes
cancer,
aging,
DNA
repair.
Although
detailed
contributions
genetic,
epigenetic,
hormonal
influences
biological
sex
remain
be
fully
understood,
reconsideration
mechanisms
underlying
these
will
deeper
understanding
evolution
disease.
Journal of Veterinary Internal Medicine,
Journal Year:
2024,
Volume and Issue:
38(3), P. 1418 - 1424
Published: April 13, 2024
Abstract
Background
X‐linked
dystrophin‐deficient
muscular
dystrophy
(MD)
is
a
form
of
MD
caused
by
variants
in
the
DMD
gene.
It
fatal
disease
characterized
progressive
weakness
and
degeneration
skeletal
muscles.
Hypothesis/Objectives
Identify
deleterious
genetic
whole‐genome
sequencing
(WGS)
using
next‐generation
sequencer.
Animals
One
MD‐affected
cat,
its
parents,
354
cats
from
breeding
colony.
Methods
We
compared
WGS
data
affected
cat
with
available
National
Center
for
Biotechnology
Information
database
searched
candidate
high‐impact
silico
analyses.
Next,
we
confirmed
Sanger
samples
parents
used
2
genome
assemblies,
standard
felCat9
(from
an
Abyssinian
cat)
novel
AnAms1.0
American
Shorthair
cat),
to
evaluate
assembly
differences.
Results
found
variants:
1‐bp
deletion
identical
nonsense
variant
AnAms1.0.
Whole
validation
showed
that
was
false
positive
because
misassembly.
Among
357
cats,
only
which
indicated
it
de
novo
variant.
Conclusion
Clinical
Importance
identified
sequencing‐based
genotyping
whole
gene
determined
be
necessary
did
not
have
risk
Animal Genetics,
Journal Year:
2024,
Volume and Issue:
55(3), P. 319 - 327
Published: Feb. 7, 2024
Abstract
With
the
advent
of
next‐generation
sequencing,
an
increasing
number
cases
de
novo
variants
in
domestic
animals
have
been
reported
scientific
literature
primarily
associated
with
clinically
severe
phenotypes.
The
emergence
new
at
each
generation
is
a
crucial
aspect
understanding
pathology
early‐onset
diseases
and
can
provide
valuable
insights
into
similar
humans.
aim
collecting
deleterious
animals,
we
searched
compiled
reports
on
42
31
genes
animals.
No
clear
disease‐associated
phenotype
has
established
humans
for
three
these
(
NUMB
,
ANKRD28
KCNG1
).
For
remaining
28
genes,
strong
similarity
between
animal
human
phenotypes
was
recognized
from
available
information
OMIM
OMIA,
revealing
importance
comparative
studies
supporting
use
as
natural
models
diseases,
line
One
Health
approach.
bioRxiv (Cold Spring Harbor Laboratory),
Journal Year:
2023,
Volume and Issue:
unknown
Published: June 1, 2023
Little
is
known
about
how
the
spectrum
and
etiology
of
germline
mutagenesis
might
vary
among
mammalian
species.
To
shed
light
on
this
mystery,
we
quantify
variation
in
mutational
sequence
context
biases
using
polymorphism
data
from
thirteen
species
mice,
apes,
bears,
wolves,
cetaceans.
After
normalizing
mutation
for
reference
genome
accessibility
Biological
differences
between
males
and
females
lead
to
many
in
physiology,
disease,
overall
health.
One
of
the
most
prominent
disparities
is
number
germline
mutations
passed
offspring:
human
transmit
three
times
as
do
females.
While
classic
explanation
for
this
pattern
invokes
post-puberty
replication
sexes,
recent
whole-genome
evidence
humans
other
mammals
has
cast
doubt
on
mechanism.
Here,
we
review
work
that
inconsistent
with
a
replication-driven
model
male-biased
mutation,
propose
an
alternative,
“faulty
male”
hypothesis.
Importantly,
suggest
new
mutation
may
also
help
explain
several
pronounced
sexes
cancer,
aging,
DNA
repair.
Although
detailed
contributions
genetic,
epigenetic,
hormonal
influences
biological
sex
remain
be
fully
understood,
reconsideration
mechanisms
underlying
these
will
deeper
understanding
evolution
disease.