Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"and other regions of the body such as the limb buds"
symptom
monosomy 21
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom