II ш IV 4) (After M. Zeviani et al., 1990, American Journal of Human Genetics 47:904-914.] [After M. Zeviani et al., 1990, American Journal of Human Genetics 47:904-914.]
In a study of a muscle disorder, several affected families exhibited vision problems, muscle weakness, and deafness (M. Zeviani et al. 1990. American Journal of Human Genetics 47:904–914). Analysis of the mtDNA from affected members of these families revealed that large numbers of their mtDNA molecules possessed deletions of varying lengths. Different members of the same family and even different mitochondria from the same person possessed deletions of different sizes, so the underlying defect appeared to be a tendency for the mtDNA of affected persons to have deletions. A pedigree of one of the families studied is shown below. The researchers concluded that this disorder is inherited as an autosomal dominant trait, and they mapped the diseasecausing gene to a position on chromosome 10 in the nucleus.
Q. Explain how a mutation in a nuclear gene might lead to deletions in mtDNA.
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