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In Silico Analysis of miRNA-Mediated Gene Regulation in OCA and OA Genes.
[oculocutaneous albinism]
Albinism
is
an
autosomal
recessive
genetic
disorder
due
to
low
secretion
of
melanin
.
The
oculocutaneous
albinism
(
OCA
)
and
ocular
albinism
(
OA
)
genes
are
responsible
for
melanin
production
and
also
act
as
a
potential
targets
for
miRNAs
.
The
role
of
miRNA
is
to
inhibit
the
protein
synthesis
partially
or
completely
by
binding
with
the
3
'
UTR
of
the
mRNA
thus
regulating
gene
expression
.
In
this
analysis
,
we
predicted
the
genetic
variation
that
occurred
in
3
'
UTR
of
the
transcript
which
can
be
a
reason
for
low
melanin
production
thus
causing
albinism
.
The
single
nucleotide
polymorphisms
(
SNPs
)
in
3
'
UTR
cause
more
new
binding
sites
for
miRNA
which
binds
with
mRNA
which
leads
to
inhibit
the
translation
process
either
partially
or
completely
.
The
SNPs
in
the
mRNA
of
OCA
and
OA
genes
can
create
new
binding
sites
for
miRNA
which
may
control
the
gene
expression
and
lead
to
hypopigmentation
.
We
have
developed
a
computational
procedure
to
determine
the
SNPs
in
the
3
'
UTR
region
of
mRNA
of
OCA
(
TYR
,
OCA
2
,
TYRP
1
and
SLC
45
A
2
)
and
OA
(
GPR
143
)
genes
which
will
be
a
potential
cause
for
albinism
.
We
identified
37
SNPs
in
five
genes
that
are
predicted
to
create
87
new
binding
sites
on
mRNA
,
which
may
lead
to
abrogation
of
the
translation
process
.
Expression
analysis
confirms
that
these
genes
are
highly
expressed
in
skin
and
eye
regions
.
It
is
well
supported
by
enrichment
analysis
that
these
genes
are
mainly
involved
in
eye
pigmentation
and
melanin
biosynthesis
process
.
The
network
analysis
also
shows
how
the
genes
are
interacting
and
expressing
in
a
complex
network
.
This
insight
provides
clue
to
wet-lab
researches
to
understand
the
expression
pattern
of
OCA
and
OA
genes
and
binding
phenomenon
of
mRNA
and
miRNA
upon
mutation
,
which
is
responsible
for
inhibition
of
translation
process
at
genomic
levels
.
Diseases
Validation
Diseases presenting
"recessive genetic disorder"
symptom
erythropoietic protoporphyria
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
pendred syndrome
triple a syndrome
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