Human Molecular Genetics, Vol 8, 743-749, Copyright © 1999 by Oxford University Press
R Allikmets, WH Raskind, A Hutchinson, ND Schueck, M Dean and DM Koeller
X-linked sideroblastic anemia and ataxia (XLSA/A) is a recessive disorder
characterized by an infantile to early childhood onset of non- progressive
cerebellar ataxia and mild anemia with hypochromia and microcytosis. A gene
encoding an ATP-binding cassette (ABC) transporter was mapped to Xq13, a
region previously shown by linkage analysis to harbor the XLSA/A gene. This
gene, ABC7, is an ortholog of the yeast ATM1 gene whose product localizes
to the mitochondrial inner membrane and is involved in iron homeostasis.
The full-length ABC7 cDNA was cloned and the entire coding region screened
for mutations in a kindred in which five male members manifested XLSA/A. An
I400M variant was identified in a predicted transmembrane segment of the
ABC7 gene in patients with XLSA/A. The mutation was shown to segregate with
the disease in the family and was not detected in at least 600 chromosomes
of general population controls. Introduction of the corresponding mutation
into the Saccharomyces cerevisiae ATM1 gene resulted in a partial loss of
function of the yeast Atm1 protein. In addition, the human wild-type ABC7
protein was able to complement ATM1 deletion in yeast. These data indicate
that ABC7 is the causal gene of XLSA/A and that XLSA/A is a mitochondrial
disease caused by a mutation in the nuclear genome.
ARTICLES
Mutation of a putative mitochondrial iron transporter gene (ABC7) in X- linked sideroblastic anemia and ataxia (XLSA/A)
Intramural Research Support Program, SAIC-Frederick and Laboratory of Genomic Diversity, National Cancer Institute, Building 560, Room 21-18, Frederick Cancer Research and Development Center, Frederick, MD 21702- 1201, USA.
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