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Modeling the monosomy for the telomeric part of human chromosome 21 reveals haploinsufficient genes modulating the inflammatory and airway responses.
[monosomy 21]
Monosomy
21
is
a
rare
human
disease
due
to
gene
dosage
errors
disturbing
a
variety
of
physiological
and
morphological
systems
including
brain
,
skeletal
,
immune
and
respiratory
functions
.
Most
of
the
human
condition
corresponds
to
partial
or
mosaic
monosomy
suggesting
that
Monosomy
21
may
be
lethal
.
In
order
to
search
for
dosage-sensitive
genes
involved
in
the
human
pathology
,
we
generated
by
chromosomal
engineering
a
monosomic
mouse
for
the
Prmt
2
-
Col
6
a
1
interval
corresponding
to
the
most
telomeric
part
of
human
chromosome
21
.
Haploinsufficiency
of
the
13
genes
,
located
in
the
0
.
5
Mb
genetic
interval
and
conserved
in
man
and
mouse
,
caused
apparently
no
morphological
defect
as
observed
in
patients
.
However
,
monosomic
mice
displayed
an
enhanced
inflammatory
response
after
local
intranasal
lipopolysaccharide
administration
with
enhanced
recruitment
of
neutrophils
and
secretion
of
cytokines
such
as
tumor
necrosis
factor
-alpha
(
TNF
-alpha
)
,
IL
-
1
beta
,
IL
-
12
p
70
and
IFN-gamma
in
the
lung
as
well
increased
TNF
-alpha
production
after
systemic
administration
.
Further
analysis
demonstrates
that
monosomic
macrophages
were
involved
and
that
a
few
genes
,
Prmt
2
,
Pcnt
2
,
Mcm
3
ap
and
Lss
located
in
the
region
were
candidate
for
the
inflammatory
response
.
Altogether
,
these
results
demonstrate
the
existence
of
dosage-sensitive
genes
in
the
Prmt
2
-
Col
6
a
1
region
that
control
the
inflammation
and
the
lung
function
.
Furthermore
,
they
point
out
that
similar
partial
Monosomies
21
in
human
might
have
eluded
the
diagnosis
due
to
the
very
specific
defects
observed
in
this
murine
model
.
Diseases
Validation
Diseases presenting
"the very specific defects observed in this murine model"
symptom
monosomy 21
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