PMID- 10196363
OWN - NLM
STAT- MEDLINE
DCOM- 19990623
LR  - 20190513
IS  - 0964-6906 (Print)
IS  - 0964-6906 (Linking)
VI  - 8
IP  - 5
DP  - 1999 May
TI  - Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked
      sideroblastic anemia and ataxia (XLSA/A).
PG  - 743-9
AB  - 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.
FAU - Allikmets, R
AU  - Allikmets R
AD  - 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.
FAU - Raskind, W H
AU  - Raskind WH
FAU - Hutchinson, A
AU  - Hutchinson A
FAU - Schueck, N D
AU  - Schueck ND
FAU - Dean, M
AU  - Dean M
FAU - Koeller, D M
AU  - Koeller DM
LA  - eng
GR  - N01-CO-56000/CO/NCI NIH HHS/United States
GR  - R01 CA16448/CA/NCI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
RN  - 0 (ABCB7 protein, human)
RN  - 0 (ATM1 protein, S cerevisiae)
RN  - 0 (ATP-Binding Cassette Transporters)
RN  - 0 (Ferrous Compounds)
RN  - 0 (Fungal Proteins)
RN  - 0 (Saccharomyces cerevisiae Proteins)
RN  - E1UOL152H7 (Iron)
RN  - S3Y25PHP1W (ferrous chloride)
SB  - IM
MH  - ATP-Binding Cassette Transporters/drug effects/*genetics/metabolism
MH  - Amino Acid Sequence
MH  - Amino Acid Substitution
MH  - Anemia, Sideroblastic/*genetics
MH  - Blotting, Northern
MH  - Cerebellar Ataxia/*genetics
MH  - Cloning, Molecular
MH  - Female
MH  - Ferrous Compounds/pharmacology
MH  - Fungal Proteins/drug effects/genetics/metabolism
MH  - Genetic Complementation Test
MH  - Humans
MH  - Iron/metabolism
MH  - Male
MH  - Mitochondria/metabolism
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Saccharomyces cerevisiae/drug effects/genetics
MH  - *Saccharomyces cerevisiae Proteins
MH  - X Chromosome
EDAT- 1999/04/10 00:00
MHDA- 1999/04/10 00:01
CRDT- 1999/04/10 00:00
PHST- 1999/04/10 00:00 [pubmed]
PHST- 1999/04/10 00:01 [medline]
PHST- 1999/04/10 00:00 [entrez]
AID - ddc101 [pii]
AID - 10.1093/hmg/8.5.743 [doi]
PST - ppublish
SO  - Hum Mol Genet. 1999 May;8(5):743-9. doi: 10.1093/hmg/8.5.743.