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Genetic variation in regulatory DNA elements: the case of OCA2 transcriptional regulation.
[oculocutaneous albinism]
Mutations
within
the
OCA
2
gene
or
the
complete
absence
of
the
OCA
2
protein
leads
to
oculocutaneous
albinism
type
2
.
The
OCA
2
protein
plays
a
central
role
in
melanosome
biogenesis
,
and
it
is
a
strong
determinant
of
the
eumelanin
content
in
melanocytes
.
Transcript
levels
of
the
OCA
2
gene
are
strongly
correlated
with
pigmentation
intensities
.
Recent
studies
demonstrated
that
the
transcriptional
level
of
OCA
2
is
to
a
large
extent
determined
by
the
noncoding
SNP
rs
12913832
located
21
.
5
kb
upstream
of
the
OCA
2
gene
promoter
.
In
this
review
,
we
discuss
current
hypotheses
and
the
available
data
on
the
mechanism
of
OCA
2
transcriptional
regulation
and
how
this
is
influenced
by
genetic
variation
.
Finally
,
we
will
explore
how
future
epigenetic
studies
can
be
used
to
advance
our
insight
into
the
functional
biology
that
connects
genetic
variation
to
human
pigmentation
.
Diseases
Validation
Diseases presenting
"albinism"
symptom
aniridia
cystinuria
harlequin ichthyosis
oculocutaneous albinism
phenylketonuria
This symptom has already been validated
