Genome Research,
Год журнала:
2024,
Номер
34(2), С. 161 - 178
Опубликована: Фев. 1, 2024
Centromeres
are
essential
regions
of
eukaryotic
chromosomes
responsible
for
the
formation
kinetochore
complexes,
which
connect
to
spindle
microtubules
during
cell
division.
Notably,
although
centromeres
maintain
a
conserved
function
in
chromosome
segregation,
underlying
DNA
sequences
diverse
both
within
and
between
species
predominantly
repetitive
nature.
The
repeat
content
includes
high-copy
tandem
repeats
(satellites),
and/or
specific
families
transposons.
functional
region
centromere
is
defined
by
loading
histone
3
variant
(CENH3),
nucleates
shows
dynamic
regulation.
In
many
plants,
composed
satellite
arrays
that
densely
methylated
invaded
centrophilic
retrotransposons.
some
cases,
retrotransposons
become
sites
CENH3
loading.
We
review
structure
plant
centromeres,
including
monocentric,
holocentric,
metapolycentric
architectures,
vary
number
distribution
attachment
along
chromosomes.
discuss
how
variation
can
drive
genome
elimination
early
divisions
embryogenesis.
epigenetic
state
may
influence
identity
evolutionary
models
seek
explain
paradoxically
rapid
change
observed
across
species,
potential
roles
recombination.
outline
putative
modes
selection
could
act
as
well
role
driving
cycles
evolution.
Although
our
primary
focus
on
genomes,
we
draw
comparisons
with
animal
fungal
derive
eukaryote-wide
perspective
function.
Advancing
crop
genomics
requires
efficient
genetic
systems
enabled
by
high-quality
personalized
genome
assemblies.
Here,
we
introduce
RagTag,
a
toolset
for
automating
assembly
scaffolding
and
patching,
establish
chromosome-scale
reference
genomes
the
widely
used
tomato
genotype
M82
along
with
Sweet-100,
new
rapid-cycling
that
developed
to
accelerate
functional
editing
in
tomato.
This
work
outlines
strategies
rapidly
expand
genomic
resources
other
plant
species.
Existing
human
genome
assemblies
have
almost
entirely
excluded
repetitive
sequences
within
and
near
centromeres,
limiting
our
understanding
of
their
organization,
evolution,
functions,
which
include
facilitating
proper
chromosome
segregation.
Now,
a
complete,
telomere-to-telomere
assembly
(T2T-CHM13)
has
enabled
us
to
comprehensively
characterize
pericentromeric
centromeric
repeats,
constitute
6.2%
the
(189.9
megabases).
Detailed
maps
these
regions
revealed
multimegabase
structural
rearrangements,
including
in
active
repeat
arrays.
Analysis
centromere-associated
uncovered
strong
relationship
between
position
centromere
evolution
surrounding
DNA
through
layered
expansions.
Furthermore,
comparisons
X
centromeres
across
diverse
panel
individuals
illuminated
high
degrees
structural,
epigenetic,
sequence
variation
complex
rapidly
evolving
regions.
Nature Genetics,
Год журнала:
2023,
Номер
55(7), С. 1221 - 1231
Опубликована: Июнь 15, 2023
Abstract
A
complete
telomere-to-telomere
(T2T)
finished
genome
has
been
the
long
pursuit
of
genomic
research.
Through
generating
deep
coverage
ultralong
Oxford
Nanopore
Technology
(ONT)
and
PacBio
HiFi
reads,
we
report
here
a
assembly
maize
with
each
chromosome
entirely
traversed
in
single
contig.
The
2,178.6
Mb
T2T
Mo17
base
accuracy
over
99.99%
unveiled
structural
features
all
repetitive
regions
genome.
There
were
several
super-long
simple-sequence-repeat
arrays
having
consecutive
thymine–adenine–guanine
(TAG)
tri-nucleotide
repeats
up
to
235
kb.
entire
nucleolar
organizer
region
26.8
array
2,974
45S
rDNA
copies
revealed
enormously
complex
patterns
duplications
transposon
insertions.
Additionally,
assemblies
ten
centromeres
enabled
us
precisely
dissect
repeat
compositions
both
CentC-rich
CentC-poor
centromeres.
represents
major
step
forward
understanding
complexity
highly
recalcitrant
higher
plant
genomes.
Genomics Proteomics & Bioinformatics,
Год журнала:
2021,
Номер
20(1), С. 4 - 13
Опубликована: Сен. 3, 2021
Abstract
Arabidopsis
thaliana
is
an
important
and
long-established
model
species
for
plant
molecular
biology,
genetics,
epigenetics,
genomics.
However,
the
latest
version
of
reference
genome
still
contains
a
significant
number
missing
segments.
Here,
we
reported
high-quality
almost
complete
Col-0
assembly
with
two
gaps
(named
Col-XJTU)
by
combining
Oxford
Nanopore
Technologies
ultra-long
reads,
Pacific
Biosciences
high-fidelity
long
Hi-C
data.
The
total
size
133,725,193
bp,
introducing
14.6
Mb
novel
sequences
compared
to
TAIR10.1
genome.
All
five
chromosomes
Col-XJTU
are
highly
accurate
consensus
quality
(QV)
scores
>
60
(ranging
from
62
68),
which
higher
than
those
45
52).
We
completely
resolved
chromosome
(Chr)
3
Chr5
in
telomere-to-telomere
manner.
Chr4
was
except
nucleolar
organizing
regions,
comprise
repetitive
DNA
fragments.
Chr1
centromere
(CEN1),
reportedly
around
9
length,
particularly
challenging
assemble
due
presence
tens
thousands
CEN180
satellite
repeats.
Using
cutting-edge
sequencing
data
computational
approaches,
assembled
3.8-Mb-long
CEN1
3.5-Mb-long
CEN2.
also
investigated
structure
epigenetics
centromeres.
Four
clusters
monomers
were
detected,
centromere-specific
histone
H3-like
protein
(CENH3)
exhibited
strong
preference
Cluster
3.
Moreover,
observed
hypomethylation
patterns
CENH3-enriched
regions.
believe
that
this
assembly,
Col-XJTU,
would
serve
as
valuable
better
understand
global
pattern
centromeric
polymorphisms,
well
genetic
epigenetic
features
plants.
Molecular Plant,
Год журнала:
2022,
Номер
15(8), С. 1268 - 1284
Опубликована: Июнь 23, 2022
Watermelon,
Citrullus
lanatus,
is
the
world's
third
largest
fruit
crop.
Reference
genomes
with
gaps
and
a
narrow
genetic
base
hinder
functional
genomics
improvement
of
watermelon.
Here,
we
report
assembly
telomere-to-telomere
gap-free
genome
elite
watermelon
inbred
line
G42
by
incorporating
high-coverage
accurate
long-read
sequencing
data
multiple
strategies.
All
11
chromosomes
have
been
assembled
into
single-contig
pseudomolecules
without
gaps,
representing
highest
completeness
quality
to
date.
The
reference
369
321
829
bp
in
length
contains
24
205
predicted
protein-coding
genes,
all
22
telomeres
centromeres
characterized.
Furthermore,
established
pollen-EMS
mutagenesis
protocol
obtained
over
200
000
M1
seeds
from
.
In
sampling
pool,
48
monogenic
phenotypic
mutations,
selected
223
78
M2
mutants
morphological
changes,
were
confirmed.
average
mutation
density
was
1
SNP/1.69
Mb
indel/4.55
per
plant
SNP/1.08
indel/6.25
plant.
Taking
advantage
genome,
8039
mutations
32
plants
sampled
families
identified
100%
accuracy,
whereas
only
25%
randomly
using
97103v2
could
be
Using
this
library
two
genes
responsible
for
elongated
shape
male
sterility
(ClMS1)
identified,
both
caused
single
change
G
A.
validated
its
EMS
provide
invaluable
resources
Horticulture Research,
Год журнала:
2023,
Номер
10(5)
Опубликована: Апрель 4, 2023
Grapevine
is
one
of
the
most
economically
important
crops
worldwide.
However,
previous
versions
grapevine
reference
genome
tipically
consist
thousands
fragments
with
missing
centromeres
and
telomeres,
limiting
accessibility
repetitive
sequences,
centromeric
telomeric
regions,
study
inheritance
agronomic
traits
in
these
regions.
Here,
we
assembled
a
telomere-to-telomere
(T2T)
gap-free
for
cultivar
PN40024
using
PacBio
HiFi
long
reads.
The
T2T
(PN_T2T)
69
Mb
longer
9018
more
genes
identified
than
12X.v0
version.
We
annotated
67%
19
36
incorporated
gene
annotations
into
PN_T2T
assembly.
detected
total
377
clusters,
which
showed
associations
complex
traits,
such
as
aroma
disease
resistance.
Even
though
derives
from
nine
generations
selfing,
still
found
genomic
hotspots
heterozygous
sites
associated
biological
processes,
oxidation-reduction
process
protein
phosphorylation.
fully
complete
therefore
constitutes
an
resource
genetic
studies
breeding
programs.
Horticulture Research,
Год журнала:
2023,
Номер
10(8)
Опубликована: Июнь 13, 2023
A
high-quality
genome
is
the
basis
for
studies
on
functional,
evolutionary,
and
comparative
genomics.
The
majority
of
attention
has
been
paid
to
solution
complex
chromosome
structures
highly
repetitive
sequences,
along
with
emergence
a
new
'telomere-to-telomere
(T2T)
assembly'
era.
However,
bioinformatic
tools
automatic
construction
and/or
characterization
T2T
are
limited.
Here,
we
developed
user-friendly
web
toolkit,
quarTeT,
which
currently
includes
four
modules:
AssemblyMapper,
GapFiller,
TeloExplorer,
CentroMiner.
First,
AssemblyMapper
designed
assemble
phased
contigs
into
chromosome-level
by
referring
closely
related
genome.
Then,
GapFiller
would
endeavor
fill
all
unclosed
gaps
in
given
aid
additional
ultra-long
sequences.
Finally,
TeloExplorer
CentroMiner
applied
identify
candidate
telomere
centromere
as
well
their
localizations
each
chromosome.
These
modules
can
be
used
alone
or
combination
other
assembly
characterization.
As
case
study,
adopting
entire
modular
functions
have
achieved
Bioinformatics,
Год журнала:
2022,
Номер
38(7), С. 2049 - 2051
Опубликована: Янв. 7, 2022
Abstract
Summary
The
visualization
and
analysis
of
genomic
repeats
is
typically
accomplished
using
dot
plots;
however,
the
emergence
telomere-to-telomere
assemblies
with
multi-megabase
requires
new
strategies.
Here,
we
introduce
StainedGlass,
which
can
generate
publication-quality
figures
interactive
visualizations
that
depict
identity
orientation
tandem
repeat
structures
at
a
genome-wide
scale.
tool
rapidly
reveal
higher-order
improve
inference
evolutionary
history
for
some
most
complex
regions
genomes.
Availability
implementation
StainedGlass
implemented
Snakemake
available
open
source
under
MIT
license
https://mrvollger.github.io/StainedGlass/.
Supplementary
information
data
are
Bioinformatics
online.
Proceedings of the National Academy of Sciences,
Год журнала:
2023,
Номер
120(8)
Опубликована: Фев. 13, 2023
Microchromosomes
are
prevalent
in
nonmammalian
vertebrates
[P.
D.
Waters
et
al.
,
Proc.
Natl.
Acad.
Sci.
U.S.A.
118
(2021)],
but
a
few
of
them
missing
bird
genome
assemblies.
Here,
we
present
new
chicken
reference
containing
all
autosomes,
Z
and
W
chromosome,
with
gaps
closed
except
for
the
W.
We
identified
ten
small
microchromosomes
(termed
dot
chromosomes)
distinct
sequence
epigenetic
features,
among
which
six
were
newly
assembled.
Those
chromosomes
exhibit
extremely
high
GC
content
level
DNA
methylation
enriched
housekeeping
genes.
The
pericentromeric
heterochromatin
is
disproportionately
large
continues
to
expand
proliferation
satellite
testis-expressed
Our
analyses
revealed
that
41-bp
CNM
repeat
frequently
forms
higher-order
repeats
(HORs)
at
centromeres
acrocentric
chromosomes.
centromere
core
regions
where
kinetochore
attaches
often
encompass
telomeric
(TTAGGG)n,
one
chromosomes,
recruits
an
endogenous
retrovirus
(ERV).
further
demonstrate
chromosome
shares
some
common
features
having
arrays
hypermethylated
tandem
repeats.
Finally,
using
complete
models,
reconstructed
fine
picture
chordate
karyotype
evolution,
revealing
frequent
chromosomal
fusions
before
after
vertebrate
whole-genome
duplications.
characterization
shed
insights
into
understanding
evolution
biology.