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The albino mutation of tyrosinase alters ocular angiogenic responsiveness.
[oculocutaneous albinism]
We
have
observed
substantial
differences
in
angiogenic
responsiveness
in
mice
and
have
mapped
the
genetic
loci
responsible
for
these
differences
.
We
have
found
that
the
albino
mutation
is
one
of
the
loci
responsible
for
such
differences
.
Using
B
6
.
A
consomic
strains
,
we
determined
that
chromosome
7
bears
a
locus
that
inhibits
VEGF-induced
corneal
neovascularization
.
F
2
crosses
between
B
6
.
A
<
Chromosome
7
>
consomic
mice
and
C
5
7
BL
/
6
J
parents
along
with
AXB
and
BXA
recombinant
inbred
strains
demonstrated
highest
linkage
near
the
tyrosinase
gene
.
This
region
was
named
AngVq
4
.
Congenic
animals
confirmed
this
locus
,
but
could
not
demonstrate
that
the
classical
tyrosinase
albino
(
c
)
mutation
was
causative
because
of
the
existence
of
additional
linked
loci
in
the
congenic
region
.
However
,
in
1970
,
a
second
tyrosinase
albino
mutation
(
c-
2
J
)
arose
in
the
C
5
7
BL
/
6
J
background
at
Jackson
Labs
.
Testing
this
strain
(
C
5
7
BL
/
6
J
<
c-
2
J
>
)
demonstrated
that
the
albino
mutation
is
sufficient
to
completely
explain
the
alteration
in
angiogenic
response
that
we
observed
in
congenic
animals
.
Thus
,
we
conclude
that
the
classical
tyrosinase
mutation
is
responsible
for
AngVq
4
.
In
contrast
to
the
cornea
,
where
pigmented
animals
exhibit
increased
angiogenic
responsiveness
,
iris
neovascularization
was
inhibited
in
pigmented
animals
.
These
results
may
partially
explain
increased
aggressiveness
in
amelanotic
melanoma
,
as
well
as
ethnic
differences
in
diabetic
retinopathy
and
macular
degeneration
.
Diseases
Validation
Diseases presenting
"the existence of additional linked loci in the congenic region"
symptom
oculocutaneous albinism
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