1983/08/01 by Rebecca L. Cann, Allan C. Wilson · 9 citations
Biochemistry, Genetics and Molecular Biology · #Mitochondrial Function and Pathology #Metabolism and Genetic Disorders #Genomics and Phylogenetic Studies #Biology #Mitochondrial DNA #Genetics #Mutation rate #Point mutation #Coding region #Phylogenetic tree #Mutation #Noncoding DNA #DNA #Sequence (biology) #DNA sequencing #Genome #Gene
paper · doi:10.1093/genetics/104.4.699
openalex publication_date 1983/08/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/06/26
By high-resolution, restriction mapping of mitochondrial DNAs purified from 112 human individuals, we have identified 14 length variants caused by small additions and deletions (from about 6 to 14 base pairs in length). Three of the 14 length differences are due to mutations at two locations within the D loop, whereas the remaining 11 occur at seven sites that are probably within other noncoding sequences and at junctions between coding sequences. In five of the nine regions of length polymorphism, there is a sequence of five cytosines in a row, this sequence being comparatively rare in coding DNA. Phylogenetic analysis indicates that, in most of the polymorphic regions, a given length mutation has arisen several times independently in different human lineages. The average rate at which length mutations have been arising and surviving in the human species is estimated to be many times higher for noncoding mtDNA than for noncoding nuclear DNA. The mystery of why vertebrate mtDNA is more prone than nuclear DNA to evolve by point mutation is now compounded by the discovery of a similar bias toward rapid evolution by length mutation.