The mutation rate of the human mtDNA deletion mtDNA4977

R. Shenkar, William Navidi, Simon Tavaré, Mark H. Dang, Anne Chomyn, Giuseppe Attardi, Gino Cortopassi, Norman Arnheim

Research output: Contribution to journalArticlepeer-review

36 Scopus citations


The human mitochondrial mutation mtDNA4977 is a 4,977-bp deletion that originates between two 13-bp direct repeats. We grew 220 colonies of cells, each from a single human cell. For each colony, we counted the number of cells and amplified the DNA by PCR to test for the presence of a deletion. To estimate the mutation rate, we used a model that describes the relationship between the mutation rate and the probability that a colony of a given size will contain no mutants, taking into account such factors as possible mitochondrial turnover and mistyping due to PCR error. We estimate that the mutation rate for mtDNA4977 in cultured human cells is 5.95 x 108 per mitochondrial genome replication. This method can be applied to specific chromosomal, as well as mitochondrial, mutations.

Original languageEnglish (US)
Pages (from-to)772-780
Number of pages9
JournalAmerican Journal of Human Genetics
Issue number4
StatePublished - 1996

ASJC Scopus subject areas

  • Genetics


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