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J Biol Chem, Vol. 274, Issue 14, 9386-9391, April 2, 1999
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From the Departments of A T Neurology and ** Genetics and
Development, H. Houston Merritt Clinical Research Center for
Muscular Dystrophy and Related Disorders, Columbia University College
of Physicians and Surgeons, New York, New York 10032, ¶ Bronx
High School of Science, Bronx, New York, and Unidad de
Investigatiòn Genètica Humana, Hospital de
Pediatrìa, Centro Mèdico Nacional-IMSS, Mèxico
City, Mèxico 06725
G mutation at position 8993 in human
mitochondrial DNA is associated with the syndrome neuropathy, ataxia,
and retinitis pigmentosa and with a maternally inherited form of
Leigh's syndrome. The mutation substitutes an arginine for a leucine
at amino acid position 156 in ATPase 6, a component of the
F0 portion of the mitochondrial ATP synthase complex.
Fibroblasts harboring high levels of the T8993G mutation have decreased
ATP synthesis activity, but do not display any growth defect under
standard culture conditions. Combining the notions that cells with
respiratory chain defects grow poorly in medium containing galactose as
the major carbon source, and that resistance to oligomycin, a
mitochondrial inhibitor, is associated with mutations in the ATPase 6 gene in the same transmembrane domain where the T8993G amino acid
substitution is located, we created selective culture conditions using
galactose and oligomycin that elicited a pathological phenotype in
T8993G cells and that allowed for the rapid selection of wild-type over T8993G mutant cells. We then generated cytoplasmic hybrid clones containing heteroplasmic levels of the T8993G mutation, and showed that
selection in galactose-oligomycin caused a significant increase in the
fraction of wild-type molecules (from 16 to 28%) in these cells.
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