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The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild.
[oculocutaneous albinism]
The
only
known
albino
gorilla
,
named
Snowflake
,
was
a
male
wild
born
individual
from
Equatorial
Guinea
who
lived
at
the
Barcelona
Zoo
for
almost
40
years
.
He
was
diagnosed
with
non-syndromic
oculocutaneous
albinism
,
i
.
e
.
white
hair
,
light
eyes
,
pink
skin
,
photophobia
and
reduced
visual
acuity
.
Despite
previous
efforts
to
explain
the
genetic
cause
,
this
is
still
unknown
.
Here
,
we
study
the
genetic
cause
of
his
albinism
and
making
use
of
whole
genome
sequencing
data
we
find
a
higher
inbreeding
coefficient
compared
to
other
gorillas
.
We
successfully
identified
the
causal
genetic
variant
for
Snowflake
's
albinism
,
a
non-synonymous
single
nucleotide
variant
located
in
a
transmembrane
region
of
SLC
45
A
2
.
This
transporter
is
known
to
be
involved
in
oculocutaneous
albinism
type
4
(
OCA
4
)
in
humans
.
We
provide
experimental
evidence
that
shows
that
this
amino
acid
replacement
alters
the
membrane
spanning
capability
of
this
transmembrane
region
.
Finally
,
we
provide
a
comprehensive
study
of
genome-
wide
patterns
of
autozygogosity
revealing
that
Snowflake
's
parents
were
related
,
being
this
the
first
report
of
inbreeding
in
a
wild
born
Western
lowland
gorilla
.
In
this
study
we
demonstrate
how
the
use
of
whole
genome
sequencing
can
be
extended
to
link
genotype
and
phenotype
in
non-
model
organisms
and
it
can
be
a
powerful
tool
in
conservation
genetics
(
e
.
g
.
,
inbreeding
and
genetic
diversity
)
with
the
expected
decrease
in
sequencing
cost
.
Diseases
Validation
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"first report"
symptom
achondroplasia
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kindler syndrome
krabbe disease
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
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oculocutaneous albinism
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x-linked adrenoleukodystrophy
zellweger syndrome
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