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The etiology and molecular genetics of human pigmentation disorders.
[oculocutaneous albinism]
Pigmentation
,
defined
as
the
placement
of
pigment
in
skin
,
hair
,
and
eyes
for
coloration
,
is
distinctive
because
the
location
,
amount
,
and
type
of
pigmentation
provides
a
visual
manifestation
of
genetic
heterogeneity
in
pathways
regulating
the
pigment-producing
cells
,
melanocytes
.
The
scope
of
this
genetic
heterogeneity
in
humans
ranges
from
normal
to
pathological
pigmentation
phenotypes
.
Clinically
,
normal
human
pigmentation
encompasses
a
variety
of
skin
and
hair
color
as
well
as
punctate
pigmentation
such
as
melanocytic
nevi
(
moles
)
or
ephelides
(
freckles
)
,
while
abnormal
human
pigmentation
exhibits
markedly
reduced
or
increased
pigment
levels
,
known
as
hypopigmentation
and
hyperpigmentation
,
respectively
.
Elucidation
of
the
molecular
genetics
underlying
pigmentation
has
revealed
genes
important
for
melanocyte
development
and
function
.
Furthermore
,
many
pigmentation
disorders
show
additional
defects
in
cells
other
than
melanocytes
,
and
identification
of
the
genetic
insults
in
these
disorders
has
revealed
pleiotropic
genes
,
where
a
single
gene
is
required
for
various
functions
in
different
cell
types
.
Thus
,
unravelling
the
genetics
of
easily
visualized
pigmentation
disorders
has
identified
molecular
similarities
between
melanocytes
and
less
visible
cell
types
/
tissues
,
arising
from
a
common
developmental
origin
and
/
or
shared
genetic
regulatory
pathways
.
Herein
we
discuss
notable
human
pigmentation
disorders
and
their
associated
genetic
alterations
,
focusing
on
the
fact
that
the
developmental
genetics
of
pigmentation
abnormalities
are
instructive
for
understanding
normal
pathways
governing
development
and
function
of
melanocytes
.
Diseases
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Diseases presenting
"their associated genetic alterations"
symptom
oculocutaneous albinism
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