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Expression and localization of Artemis serine 516 phosphorylation in human scalp skin.
[omenn syndrome]
Artemis
phosphorylation
at
serine
516
(
Ser
516
)
has
important
regulatory
functions
in
the
repair
of
radiation-induced
DNA
damage
,
V
(
D
)
J
recombination
,
p
53
-
dependent
apoptosis
and
cell
cycle
control
.
Accordingly
,
Artemis
mutations
can
lead
to
Omenn
syndrome
,
which
is
associated
with
human
radiosensitive
severe
combined
immunodeficiency
syndrome
and
alopecia
.
In
this
study
,
we
investigated
the
expression
of
Ser
516
phosphorylation
of
Artemis
in
the
epidermis
and
epidermal
appendages
in
normal
human
scalp
skin
.
Immunofluorescence
analysis
revealed
Ser
516
phosphorylation
of
Artemis
in
the
upper
and
middle
portion
of
anagen
hair
follicle
[
including
outer
root
sheath
(
ORS
)
,
inner
root
sheath
but
not
stratum
basale
]
,
hair
matrix
,
sebaceous
glands
(
secretory
and
ductal
portions
)
,
eccrine
sweat
glands
(
secretory
and
ductal
portions
)
and
epidermis
(
stratum
basale
and
stratum
granulosum
)
,
respectively
.
Artemis
phosphorylation
at
Ser
516
was
most
prominent
in
ORS
keratinocytes
.
Therefore
,
we
suggest
that
phosphorylation
of
Artemis
at
Ser
516
could
be
involved
in
regulation
of
human
epidermal
appendages
.
Diseases
Validation
Diseases presenting
"hair matrix"
symptom
omenn syndrome
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