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Adapting to a changing world: RAG genomics and evolution.
[omenn syndrome]
The
origin
of
the
recombination-activating
genes
(
RAGs
)
is
considered
to
be
a
foundation
hallmark
for
adaptive
immunity
,
characterised
by
the
presence
of
antigen
receptor
genes
that
provide
the
ability
to
recognise
and
respond
to
specific
peptide
antigens
.
In
vertebrates
,
a
diverse
repertoire
of
antigen-
specific
receptors
,
T
cell
receptors
and
immunoglobulins
is
generated
by
V
(
D
)
J
recombination
performed
by
the
RAG-
1
and
RAG-
2
protein
complex
.
RAG
homologues
were
identified
in
many
jawed
vertebrates
.
Despite
their
crucial
importance
,
no
homologues
have
been
found
in
jawless
vertebrates
and
invertebrates
.
This
paper
focuses
on
the
RAG
homologues
in
humans
and
other
vertebrates
for
which
the
genome
is
completely
sequenced
,
and
also
discusses
the
main
contribution
of
the
use
of
RAG
homologues
in
phylogenetics
and
vertebrate
evolution
.
Since
mutations
in
both
genes
cause
a
spectrum
of
severe
combined
immunodeficiencies
,
including
the
Omenn
syndrome
(
OS
)
,
these
topics
are
discussed
in
detail
.
Finally
,
the
relevance
to
genomic
diversity
and
implications
to
immunomics
are
addressed
.
The
search
for
homologues
could
enlighten
us
about
the
evolutionary
processes
that
shaped
the
adaptive
immune
system
.
Understanding
the
diversity
of
the
adaptive
immune
system
is
crucially
important
for
the
design
and
development
of
new
therapies
to
modulate
the
immune
responses
in
humans
and
/
or
animal
models
.