Single-point mutations in disordered proteins: Linking sequence, ensemble, and function
Current Opinion in Structural Biology,
Год журнала:
2025,
Номер
91, С. 102987 - 102987
Опубликована: Фев. 5, 2025
Mutations
in
genomic
DNA
often
result
single-point
missense
mutations
proteins.
For
folded
proteins,
the
functional
effect
of
these
can
be
understood
by
their
impact
on
structure.
However,
intrinsically
disordered
protein
regions
(IDRs)
remain
poorly
understood.
In
IDRs,
function
depend
structural
ensemble-
collection
accessible,
interchanging
conformations
that
is
encoded
amino
acid
sequence.
We
argue
that,
analogously
to
IDRs
alter
ensemble,
and
consequently
biological
function.
To
make
this
argument,
we
first
provide
experimental
evidence
from
literature
showcasing
how
affect
ensemble
dimensions.
Then,
use
data
patients
show
disease-linked
occurring
can,
many
cases,
significantly
IDR
ensembles.
hope
analysis
prompts
further
study
disease-linked,
IDRs.
Язык: Английский
Mechanotransduction in Development: A Focus on Angiogenesis
Biology,
Год журнала:
2025,
Номер
14(4), С. 346 - 346
Опубликована: Март 27, 2025
Cells
respond
to
external
mechanical
cues
and
transduce
these
forces
into
biological
signals.
This
process
is
known
as
mechanotransduction
requires
a
group
of
proteins
called
mechanosensors.
peculiar
class
receptors
include
extracellular
matrix
proteins,
plasma
membrane
the
cytoskeleton
nuclear
envelope.
These
cell
components
are
responsive
wide
spectrum
physical
including
stiffness,
tensile
force,
hydrostatic
pressure
shear
stress.
Among
mechanotransducers,
Transient
Receptor
Potential
(TRP)
PIEZO
family
members
mechanosensitive
ion
channels,
coupling
force
transduction
with
intracellular
cation
transport.
Their
activity
contributes
embryo
development,
tissue
remodeling
repair,
homeostasis.
In
particular,
vessel
development
driven
by
hemodynamic
such
flow
direction
Perturbed
involved
in
several
pathological
vascular
phenotypes
hereditary
hemorrhagic
telangiectasia.
review
conceived
summarize
most
recent
findings
development.
We
first
collected
main
features
proteins.
However,
we
focused
on
role
during
Mechanosensitive
channels
their
function
also
discussed,
focus
brain
morphogenesis.
Язык: Английский
Protein folding and quality control during nuclear transport
Current Opinion in Cell Biology,
Год журнала:
2024,
Номер
90, С. 102407 - 102407
Опубликована: Авг. 13, 2024
Язык: Английский
CRL4DCAF12regulation of MCMBP ensures optimal licensing of DNA replication
bioRxiv (Cold Spring Harbor Laboratory),
Год журнала:
2024,
Номер
unknown
Опубликована: Ноя. 28, 2024
The
minichromosome
maintenance
(MCM2-7)
protein
complexes
are
central
drivers
of
genome
duplication.
Distinct
pools,
parental
and
nascent
MCMs,
their
precise
equilibrium
essential
to
sustain
error-free
DNA
replication.
However,
the
mechanism
responsible
for
generating
these
pools
maintaining
remains
largely
unexplored.
Here,
we
identified
CRL4
DCAF12
as
a
new
factor
controlling
assembly
MCM
complexes.
During
biogenesis,
MCMBP
facilitates
transport
newly
synthesized
MCM3-7
subcomplexes
into
nucleus.
Once
in
nucleus,
MCM2
subunit
must
be
incorporated
subcomplex,
while
needs
removed.
degradation
thereby
regulates
MCM2-7
absence
adversely
affects
level
chromatin-bound
resulting
accelerated
replication
forks
instability.
Collectively,
our
findings
uncovered
molecular
underlying
production
counteract
instability
tumor
formation.
Язык: Английский