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Characterization of a novel gene, C21orf6, mapping to a critical region of chromosome 21q22.1 involved in the monosomy 21 phenotype and of its murine ortholog, orf5.
[monosomy 21]
Phenotypic
and
molecular
analyses
of
patients
with
partial
chromosome
21
monosomy
enabled
us
to
define
a
region
,
spanning
2
.
4
Mb
between
D
21
S
190
and
D
21
S
226
,
associated
with
arthrogryposis
,
mental
retardation
,
hypertonia
,
and
several
facial
anomalies
.
The
markers
of
the
region
were
used
to
screen
a
total
human
PAC
library
(
Ioannou
,
RZPD
)
.
We
isolated
57
PACs
,
which
formed
primary
contigs
.
EST
clusters
(
UNIGENE
collection
)
located
in
a
6
-
Mb
interval
,
between
D
21
S
260
and
D
21
S
263
,
were
mapped
in
individual
bacterial
clones
.
We
mapped
the
WI
-
17843
cluster
to
the
PAC
clone
J
12100
,
which
contains
the
two
anchor
markers
LB
10
T
and
LA
329
.
The
open
reading
frame
extends
over
960
bp
,
with
three
putative
start
codons
.
The
1695
-
bp
cDNA
containing
a
polyadenylation
signal
should
correspond
to
the
full-length
cDNA
.
From
the
genomic
sequence
,
we
deduced
that
the
gene
contained
five
exons
and
that
there
was
a
putative
promoter
sequence
upstream
from
exon
1
.
In
silico
screening
of
DNA
databases
revealed
similarity
with
a
murine
EST
.
The
corresponding
cDNA
(
1757
bp
)
sequence
was
very
similar
(
>
85
%
)
to
the
human
cDNA
and
had
an
open
reading
frame
of
876
nucleotides
.
Somatic
hybrid
mapping
localized
the
cDNA
to
mouse
chromosome
16
.
EST
analyses
and
RT-PCR
indicated
that
the
third
exon
in
the
human
gene
(
exon
2
in
the
mouse
)
undergoes
alternative
splicing
.
Northern
blot
hybridization
showed
that
the
gene
was
ubiquitously
expressed
in
humans
and
mice
.
The
longest
mouse
clone
was
used
to
generate
riboprobes
,
which
were
hybridized
to
murine
embryos
at
stages
E
-
9
.
5
,
E
-
10
.
5
,
E
-
12
.
5
,
E
-
13
.
5
,
and
E
-
14
.
5
-
15
,
to
study
the
pattern
of
expression
during
development
.
Ubiquitous
labeling
was
observed
,
with
strong
signals
restricted
to
limited
areas
of
the
telencephalon
,
the
mesencephalon
,
and
the
interrhombomeric
regions
in
the
central
nervous
system
,
and
other
regions
of
the
body
such
as
the
limb
buds
,
branchial
arches
,
and
somites
.
Diseases
Validation
Diseases presenting
"arthrogryposis"
symptom
monosomy 21
This symptom has already been validated