| Title: |
Pedigree derived mutation rate across the entire mitochondrial genome of the Norfolk Island population |
| Authors: |
Connell, JR; Benton, MC; Lea, RA; Sutherland, HG; Chaseling, J; Haupt, LM; Wright, KM; Griffiths, LR |
| Publisher Information: |
Nature Publishing |
| Publication Year: |
2022 |
| Collection: |
Griffith University: Griffith Research Online |
| Subject Terms: |
Pacific Peoples genomics; Science & Technology; Multidisciplinary Sciences; Science & Technology - Other Topics; TIME DEPENDENCY; CONTROL REGION |
| Description: |
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 the mtGenome were calculated. Nine mutations (including two transitions and seven cases of heteroplasmy) were observed, resulting in a rate of 0.058 mutations/site/million years (95% CI 0.031–0.108). These mutation rates are approximately 16 times higher than estimates derived from phylogenetic analysis with heteroplasmy detected in 13 samples (n = 225, 5.8% individuals). Providing one of the first pedigree derived estimates for the entire mtGenome, this study provides a better understanding of human mtGenome evolution and has relevance to many research fields, including medicine, anthropology and forensics. ; Full Text |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
Scientific Reports; Connell, JR; Benton, MC; Lea, RA; Sutherland, HG; Chaseling, J; Haupt, LM; Wright, KM; Griffiths, LR, Pedigree derived mutation rate across the entire mitochondrial genome of the Norfolk Island population, Scientific Reports, 2022, 12, pp. 6827; https://hdl.handle.net/10072/428672 |
| DOI: |
10.1038/s41598-022-10530-3 |
| Availability: |
https://hdl.handle.net/10072/428672; https://doi.org/10.1038/s41598-022-10530-3 |
| Rights: |
https://creativecommons.org/licenses/by/4.0/ ; © The Author(s) 2022. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. ; open access |
| Accession Number: |
edsbas.F50159EC |
| Database: |
BASE |