Independent expansion, selection and hypervariability of theTBC1D3gene family in humans
Genome Research,
Journal Year:
2024,
Volume and Issue:
34(11), P. 1798 - 1810
Published: Aug. 6, 2024
is
a
primate-specific
gene
family
that
has
expanded
in
the
human
lineage
and
been
implicated
neuronal
progenitor
proliferation
expansion
of
frontal
cortex.
The
its
expression
have
challenging
to
investigate
because
it
embedded
high-identity
highly
variable
segmental
duplications.
We
sequenced
assembled
using
long-read
sequencing
data
from
34
humans
11
nonhuman
primate
species.
Our
analysis
shows
this
particular
independently
duplicated
at
least
five
lineages,
loci
are
enriched
sites
large-scale
chromosomal
rearrangements
on
Chromosome
17.
find
all
copy-number
variation
maps
two
distinct
clusters
located
17q12
structurally
locus,
differing
by
as
many
20
copies
∼1
Mbp
length
depending
haplotypes.
also
show
evidence
positive
selection,
well
significant
change
predicted
TBC1D3
protein
sequence.
Last,
we
that,
despite
multiple
duplications,
Language: Английский
Advancing evolutionary medicine with complete primate genomes and advanced biotechnologies
Trends in Genetics,
Journal Year:
2024,
Volume and Issue:
unknown
Published: Dec. 1, 2024
Language: Английский
Deciphering the role of structural variation in human evolution: a functional perspective
Current Opinion in Genetics & Development,
Journal Year:
2024,
Volume and Issue:
88, P. 102240 - 102240
Published: Aug. 8, 2024
Advances
in
sequencing
technologies
have
enabled
the
comparison
of
high-quality
genomes
diverse
primate
species,
revealing
vast
amounts
divergence
due
to
structural
variation.
Given
their
large
size,
variants
(SVs)
can
simultaneously
alter
function
and
regulation
multiple
genes.
Studies
estimate
that
collectively
more
than
3.5%
genome
is
divergent
humans
versus
other
great
apes,
impacting
thousands
Functional
genomics
gene-editing
tools
various
model
systems
recently
emerged
as
an
exciting
frontier
-
investigating
wide-ranging
impacts
SVs
on
molecular,
cellular,
systems-level
phenotypes.
This
review
examines
existing
research
identifies
future
directions
broaden
our
understanding
functional
roles
phenotypic
innovations
diversity
uniquely
human
features,
ranging
from
cognition
metabolic
adaptations.
Language: Английский
Gene expansions contributing to human brain evolution
bioRxiv (Cold Spring Harbor Laboratory),
Journal Year:
2024,
Volume and Issue:
unknown
Published: Sept. 26, 2024
Genomic
drivers
of
human-specific
neurological
traits
remain
largely
undiscovered.
Duplicated
genes
expanded
uniquely
in
the
human
lineage
likely
contributed
to
brain
evolution,
including
increased
complexity
synaptic
connections
between
neurons
and
dramatic
expansion
neocortex.
Discovering
duplicate
is
challenging
because
similarity
paralogs
makes
them
prone
sequence-assembly
errors.
To
mitigate
this
issue,
we
analyzed
a
complete
telomere-to-telomere
genome
sequence
(T2T-CHM13)
identified
213
duplicated
gene
families
containing
(>98%
identity).
Positing
that
important
universal
features
should
exist
with
at
least
one
copy
all
modern
humans
exhibit
expression
brain,
narrowed
on
362
across
thousands
ancestrally
diverse
genomes
present
transcriptomes.
Of
these,
38
co-express
modules
enriched
for
autism-associated
potentially
contribute
language
cognition.
We
13
are
fixed
among
show
convincing
patterns.
Using
long-read
DNA
sequencing
revealed
hidden
variation
200
ancestries,
uncovering
signatures
selection
not
previously
identified,
possible
balancing
Language: Английский