Pedigree derived mutation rate across the entire mitochondrial genome of the Norfolk Island population.

ABSTRACT: Estimates of mutation rates for various regions of the human mitochondrial genome (mtGenome) vary widely, depending on whether they are inferred using a phylogenetic approach or obtained directly from pedigrees. Traditionally, only the control region, or small portions of the coding region have been targeted for analysis due to the cost and effort required to produce whole mtGenome Sanger profiles. Here, we report one of the first pedigree derived mutation rates for the entire human mtGenome. The entire mtGenome from 225 individuals originating from Norfolk Island was analysed to estimate the pedigree derived mutation rate and compared against published mutation rates. These individuals were from 45 maternal lineages spanning 345 generational events. Mutation rates for various portions of

SUBMITTER: Connell JR 

PROVIDER: S-EPMC9042960 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature