Journal of Experimental Zoology Part B Molecular and Developmental Evolution,
Journal Year:
2023,
Volume and Issue:
342(3), P. 212 - 240
Published: Oct. 13, 2023
Abstract
Hearing
in
infants
is
essential
for
brain
development,
acquisition
of
verbal
language
skills,
and
development
social
interactions.
Therefore,
it
important
to
diagnose
hearing
loss
soon
after
birth
so
that
interventions
can
be
provided
as
early
possible.
Most
newborns
the
United
States
are
screened
deficits
commercially
available
next‐generation
sequencing
panels
often
identify
causative
gene,
which
may
also
congenital
defects
other
organs.
One
most
prevalent
autosomal
dominant
syndromes
branchio‐oto‐renal
syndrome
(BOR),
presents
with
craniofacial
structures
kidney.
Currently,
mutations
three
genes,
SIX1,
SIX5
,
EYA1
known
about
half
BOR
patients
have
been
tested.
To
uncover
new
candidate
genes
could
added
genetic
screens,
we
combined
power
Drosophila
mutants
protein
biochemical
assays
embryological
advantages
Xenopus
a
key
aquatic
animal
model
high
level
genomic
similarity
human,
potential
Six1
transcriptional
targets
interacting
proteins
play
role
during
otic
development.
We
review
our
transcriptomic,
yeast
2‐hybrid,
proteomic
approaches
revealed
large
number
candidates.
discuss
how
begun
co‐factors
interact
direct
developmental
events
necessary
normal
Genetics,
Journal Year:
2023,
Volume and Issue:
224(1)
Published: March 3, 2023
Abstract
The
Gene
Ontology
(GO)
knowledgebase
(http://geneontology.org)
is
a
comprehensive
resource
concerning
the
functions
of
genes
and
gene
products
(proteins
noncoding
RNAs).
GO
annotations
cover
from
organisms
across
tree
life
as
well
viruses,
though
most
function
knowledge
currently
derives
experiments
carried
out
in
relatively
small
number
model
organisms.
Here,
we
provide
an
updated
overview
knowledgebase,
efforts
broad,
international
consortium
scientists
that
develops,
maintains,
updates
knowledgebase.
consists
three
components:
(1)
GO—a
computational
structure
describing
functional
characteristics
genes;
(2)
annotations—evidence-supported
statements
asserting
specific
product
has
particular
characteristic;
(3)
Causal
Activity
Models
(GO-CAMs)—mechanistic
models
molecular
“pathways”
(GO
biological
processes)
created
by
linking
multiple
using
defined
relations.
Each
these
components
continually
expanded,
revised,
response
to
newly
published
discoveries
receives
extensive
QA
checks,
reviews,
user
feedback.
For
each
components,
description
current
contents,
recent
developments
keep
up
date
with
new
discoveries,
guidance
on
how
users
can
best
make
use
data
provide.
We
conclude
future
directions
for
project.
Genetics,
Journal Year:
2022,
Volume and Issue:
220(4)
Published: Feb. 25, 2022
The
Alliance
of
Genome
Resources
(the
Alliance)
is
a
combined
effort
7
knowledgebase
projects:
Saccharomyces
Database,
WormBase,
FlyBase,
Mouse
the
Zebrafish
Information
Network,
Rat
and
Gene
Ontology
Resource.
seeks
to
provide
several
benefits:
better
service
various
communities
served
by
these
projects;
harmonized
view
data
for
all
biomedical
researchers,
bioinformaticians,
clinicians,
students;
more
sustainable
infrastructure.
has
cross-organism
useful
comparative
views
gene
function,
expression,
human
disease
relevance.
basis
shared
calls
orthology
relationships
use
common
ontologies.
key
types
are
alleles
variants,
function
based
on
ontology
annotations,
phenotypes,
association
disease,
protein-protein
genetic
interactions,
participation
in
pathways.
information
presented
uniform
pages
that
allow
facile
summarization
about
each
organisms
covered
(budding
yeast,
roundworm
Caenorhabditis
elegans,
fruit
fly,
house
mouse,
zebrafish,
brown
rat,
human).
knowledge
freely
available
alliancegenome.org
portal,
as
downloadable
files,
APIs.
We
expect
other
existing
emerging
bases
join
union
features
base
currently
provides.
Genetics,
Journal Year:
2023,
Volume and Issue:
224(1)
Published: Feb. 9, 2023
Abstract
Xenbase
(https://www.xenbase.org/),
the
Xenopus
model
organism
knowledgebase,
is
a
web-accessible
resource
that
integrates
diverse
genomic
and
biological
data
from
research
on
laboratory
frogs
laevis
tropicalis.
The
goal
of
to
accelerate
discovery
empower
research,
enhance
impact
data,
facilitate
dissemination
these
data.
also
enhances
value
through
high-quality
curation,
integration,
providing
bioinformatics
tools
optimized
for
experiments,
linking
human
other
organisms.
plays
an
indispensable
role
in
making
interoperable
accessible
broader
biomedical
community
accordance
with
FAIR
principles.
provides
annotated
updates
organizations
such
as
NCBI,
UniProtKB,
Ensembl,
Gene
Ontology
consortium,
most
recently,
Alliance
Genomic
Resources,
common
clearing
house
humans
This
article
brief
overview
key
recently
added
features
Xenbase.
New
include
processing
high-throughput
sequencing
NCBI
Expression
Omnibus;
curation
anatomical,
physiological,
expression
phenotypes
newly
created
Phenotype
Ontology;
annotations;
new
anatomical
drawings
Normal
Table
development;
integration
latest
v10.1
genome
annotations.
Finally,
we
highlight
areas
future
development
at
continue
support
community.
Genetics,
Journal Year:
2024,
Volume and Issue:
227(1)
Published: March 26, 2024
Abstract
Mouse
Genome
Informatics
(MGI)
is
a
federation
of
expertly
curated
information
resources
designed
to
support
experimental
and
computational
investigations
into
genetic
genomic
aspects
human
biology
disease
using
the
laboratory
mouse
as
model
system.
The
Database
(MGD)
Gene
Expression
(GXD)
are
core
MGI
databases
that
share
data
system
architecture.
serves
central
community
resource
integrated
about
genome
features,
variation,
expression,
gene
function,
phenotype,
models
acquired
from
peer-reviewed
publications,
author
submissions,
major
bioinformatics
resources.
To
facilitate
integration
standardization
data,
biocuration
scientists
annotate
terms
controlled
metadata
vocabularies
biological
ontologies
(e.g.
Mammalian
Phenotype
Ontology,
Developmental
Anatomy,
Disease
etc.),
by
applying
international
standards
for
gene,
allele,
strain
nomenclature.
basic
scientists,
translational
researchers,
providing
access
FAIR-compliant
in
both
human-readable
compute-ready
formats.
accessible
at
https://informatics.jax.org.
Here,
we
present
an
overview
types
represented
highlight
recent
enhancements
with
focus
on
new
functionality
MGD
GXD.
Nucleic Acids Research,
Journal Year:
2020,
Volume and Issue:
49(D1), P. D924 - D931
Published: Oct. 3, 2020
Abstract
The
Gene
Expression
Database
(GXD;
www.informatics.jax.org/expression.shtml)
is
an
extensive
and
well-curated
community
resource
of
mouse
developmental
gene
expression
information.
For
many
years,
GXD
has
collected
integrated
data
from
RNA
in
situ
hybridization,
immunohistochemistry,
RT-PCR,
northern
blot,
western
blot
experiments
through
curation
the
scientific
literature
by
collaborations
with
large-scale
projects.
Since
our
last
report
2019,
we
have
continued
to
acquire
these
classical
types
data;
developed
a
searchable
index
RNA-Seq
microarray
that
allows
users
quickly
reliably
find
specific
studies
ArrayExpress
(https://www.ebi.ac.uk/arrayexpress/)
GEO
(https://www.ncbi.nlm.nih.gov/geo/);
expanded
include
data.
Uniformly
processed
are
imported
EBI
Atlas
then
other
GXD,
genetic,
functional,
phenotypic
disease-related
information
Mouse
Genome
Informatics
(MGI).
This
integration
made
accessible
via
GXD’s
enhanced
searching
filtering
capabilities.
Further,
embedded
Morpheus
heat
map
utility
into
user
interface
provide
additional
tools
for
display
analysis
data,
including
visualization,
sorting,
filtering,
hierarchical
clustering,
nearest
neighbors
visual
enrichment.
Nucleic Acids Research,
Journal Year:
2021,
Volume and Issue:
50(D1), P. D970 - D979
Published: Oct. 13, 2021
Echinobase
(www.echinobase.org)
is
a
third
generation
web
resource
supporting
genomic
research
on
echinoderms.
The
new
version
was
built
by
cloning
the
mature
Xenopus
model
organism
knowledgebase,
Xenbase,
refactoring
data
ingestion
pipelines
and
modifying
user
interface
to
adapt
multispecies
echinoderm
content.
This
approach
leveraged
over
15
years
of
previous
database
application
development
generate
fully
featured
informatics
in
single
year.
In
addition
software
stack,
uses
private
cloud
physical
hosts
that
support
Xenbase.
currently
supports
six
species,
focused
those
used
for
genomics,
developmental
biology
gene
regulatory
network
analyses.
Over
38
000
pages,
18
publications,
improved
genome
assemblies,
JBrowse
browser
BLAST
+
services
are
available
supported
anatomical
ontology,
uniformly
applied
formal
nomenclature,
consistent
orthology
predictions.
A
novel
feature
integrating
multiple,
disparate
species.
New
genomes
from
diverse
phylum
will
be
added
as
becomes
available.
common
code
design
integrated
knowledgebases
ensures
parallel
improvements
each
evolves.
widely
applicable
developing
resources.
Nature Communications,
Journal Year:
2022,
Volume and Issue:
13(1)
Published: Oct. 6, 2022
Abstract
The
development
of
a
fertilized
egg
to
an
embryo
requires
the
proper
temporal
control
gene
expression.
During
cell
differentiation,
timing
is
often
controlled
via
cascades
transcription
factors
(TFs).
However,
in
early
development,
inactive,
and
many
TF
levels
stay
constant,
suggesting
that
alternative
mechanisms
govern
observed
rapid
ordered
onset
Here,
we
find
embryonic
access
maternally
deposited
nuclear
proteins
genome
temporally
importin
affinities,
thereby
expression
downstream
targets.
We
quantify
changes
proteome
during
proteins,
such
as
TFs
RNA
polymerases,
enter
nucleus
sequentially.
Moreover,
proteins’
corresponds
activation.
show
affinity
major
determinant
protein
entry
into
nuclei.
Thus,
propose
mechanism
by
which
embryos
encode
biochemical
affinities.
This
process
could
be
critical
for
organize
themselves
before
deploying
regulatory
identities.
Science Advances,
Journal Year:
2023,
Volume and Issue:
9(14)
Published: April 7, 2023
The
specialized
cell
types
of
the
mucociliary
epithelium
(MCE)
lining
respiratory
tract
enable
continuous
airway
clearing,
with
its
defects
leading
to
chronic
diseases.
molecular
mechanisms
driving
fate
acquisition
and
temporal
specialization
during
epithelial
development
remain
largely
unknown.
Here,
we
profile
developing
Xenopus
MCE
from
pluripotent
mature
stages
by
single-cell
transcriptomics,
identifying
multipotent
early
progenitors
that
execute
multilineage
cues
before
specializing
into
late-stage
ionocytes
goblet
basal
cells.
Combining
in
silico
lineage
inference,
situ
hybridization,
multiplexed
RNA
imaging,
capture
initial
bifurcation
multiciliated
chart
type
emergence
progression
types.
Comparative
analysis
nine
atlases
reveals
an
evolutionary
conserved
transcriptional
module
ciliated
cells,
whereas
secretory
distinct
function-specific
programs
across
vertebrates.
We
uncover
a
nonhierarchical
model
alongside
data
resource
for
understanding
biology.