Stable heteroplasmy but differential inheritance of a large mitochondrial DNA deletion in nematodes

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire
William Y Tsang, Bernard D Lemire


Many human mitochondrial diseases are associated with defects in the mitochondrial DNA (mtDNA). Mutated and wild-type forms of mtDNA often coexist in the same cell in a state called heteroplasmy. Here, we report the isolation of a Caenorhabditis elegans strain bearing the 3.1-kb uaDf5 deletion that removes 11 genes from the mtDNA. The uaDf5 deletion is maternally transmitted and has been maintained for at least 100 generations in a stable heteroplasmic state in which it accounts for approximately 60% of the mtDNA content of each developmental stage. Heteroplasmy levels vary between individual animals (from approximately 20 to 80%), but no observable phenotype is detected. The total mtDNA copy number in the uaDf5 mutant is approximately twice that of the wild type. The maternal transmission of the uaDf5 mtDNA is controlled by at least two competing processes: one process promotes the increase in the average proportion of uaDf5 mtDNA in the offspring, while the second promotes a decrease. These two forces prevent the segregation of the mtDNAs to homoplasmy.


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Related Concepts

DNA, Mitochondrial
Selection, Genetic
Variation (Genetics)
Nested Polymerase Chain Reaction
Caenorhabditis elegans
Deletion Mutation
Oligonucleotide Primers
Genomic Imprinting

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