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Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1.
[monosomy 21]
In
order
to
contribute
to
the
development
of
the
transcriptional
map
of
chromosome
21
,
we
performed
exon
trapping
using
cosmid
clones
mapped
in
the
region
21
q
22
.
1
-
22
.
2
and
identified
a
number
of
potential
exons
.
One
of
the
trapped
exons
(
Genbank
No
.
AF
026200
)
showed
a
strong
homology
with
the
mouse
Bach
1
gene
(
Genbank
No
.
D
86603
)
,
a
transcription
factor
regulating
gene
expression
.
We
then
isolated
the
full-length
coding
region
of
the
human
BACH
1
gene
using
expressed
sequence
tags
,
reverse
transcription-polymerase
chain
reaction
and
rapid
amplification
of
cDNA
ends
.
The
predicted
BACH
1
protein
contains
736
amino
acids
and
is
88
%
identical
to
its
mouse
homolog
.
It
contains
basic
leucine
zipper
and
BTB-zinc
finger
domains
(
which
are
directly
involved
in
DNA
binding
for
transcription
regulation
)
.
The
BACH
1
gene
maps
in
a
relatively
gene
-
poor
region
on
21
q
22
.
1
in
yeast
artificial
chromosome
814
c
1
of
the
collection
of
Chumakov
et
al
.
Northern
blot
analysis
revealed
that
it
is
expressed
as
an
mRNA
species
of
approximately
5
.
8
kb
in
all
16
adult
and
4
fetal
tissues
examined
;
an
additional
mRNA
species
of
2
.
8
kb
was
observed
in
adult
testis
.
The
contribution
of
the
BACH
1
gene
to
the
pathophysiology
of
trisomy
or
monosomy
21
is
unknown
.
In
addition
,
no
monogenic
disorders
associated
with
mutations
in
the
BACH
1
gene
have
yet
been
identified
.
