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The roles of the RAG1 and RAG2 "non-core" regions in V(D)J recombination and lymphocyte development.
[omenn syndrome]
The
enormous
repertoire
of
the
vertebrate
specific
immune
system
relies
on
the
rearrangement
of
discrete
gene
segments
into
intact
antigen
receptor
genes
during
the
early
stages
of
B-
and
T
-
cell
development
.
This
V
(
D
)
J
recombination
is
initiated
by
a
lymphoid-
specific
recombinase
comprising
the
RAG
1
and
RAG
2
proteins
,
which
introduces
double
-strand
breaks
in
the
DNA
adjacent
to
the
coding
segments
.
Much
of
the
biochemical
research
into
V
(
D
)
J
recombination
has
focused
on
truncated
or
"
core
"
fragments
of
RAG
1
and
RAG
2
,
which
lack
approximately
one
third
of
the
amino
acids
from
each
.
However
,
genetic
analyses
of
SCID
and
Omenn
syndrome
patients
indicate
that
residues
outside
the
cores
are
essential
to
normal
immune
development
.
This
is
in
agreement
with
the
striking
degree
of
conservation
across
all
vertebrate
classes
in
certain
non-core
domains
.
Work
from
multiple
laboratories
has
shed
light
on
activities
resident
within
these
domains
,
including
ubiquitin
ligase
activity
and
KPNA
1
binding
by
the
RING
finger
domain
of
RAG
1
and
the
recognition
of
specific
chromatin
modifications
as
well
as
phosphoinositide
binding
by
the
PHD
module
of
RAG
2
.
In
addition
,
elements
outside
of
the
cores
are
necessary
for
regulated
protein
expression
and
turnover
.
Here
the
current
state
of
knowledge
is
reviewed
regarding
the
non-core
regions
of
RAG
1
and
RAG
2
and
how
these
findings
contribute
to
our
broader
understanding
of
recombination
.