The DOI matches its Crossref record; 35 of the 35 references it cites were found in a registry or an index.
Extensive tissue-related and allele-related mtDNA heteroplasmy suggests positive selection for somatic mutations
Open accessAbstract
Significance: Heteroplasmy is the existence of different mtDNA sequences within an individual due to somatic or inherited mutations, and it has been implicated in many mtDNA-related diseases, other diseases, cancer, and aging. However, little is known about how heteroplasmy varies across different tissues from the same individual; here, we analyzed heteroplasmy variation across the entire mtDNA genome in 12 tissues obtained at autopsy from each of 152 individuals. Our results suggest that in addition to neutral processes and negative selection, positive selection has an important influence on heteroplasmy: As individuals get older, specific alleles are selected for at specific nucleotide positions in specific tissues. The functional consequences of these positively selected somatic mutations may play a role in human health and disease.
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Cites
The Sequence Alignment/Map format and SAMtools
Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., Marth, G., Abecasis, G., Durbin, R., & 1000 Genome Project Data Processing Subgroup (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp352 · Cited by 62,041
Fast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607
Mfold web server for nucleic acid folding and hybridization prediction
Zuker, M. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg595 · Cited by 13,404
A framework for variation discovery and genotyping using next-generation DNA sequencing data
DePristo, M. A., Banks, E., Poplin, R., Garimella, K. V., Maguire, J. R., Hartl, C., Philippakis, A. A., del Angel, G., Rivas, M. A., Hanna, M., et al. (2011) · Nature Genetics · doi:10.1038/ng.806 · Cited by 11,456
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
Andrews, R. M., Kubacka, I., Chinnery, P. F., Lightowlers, R. N., Turnbull, D. M., & Howell, N. (1999) · Nature Genetics · doi:10.1038/13779 · Cited by 3,337
High-throughput droplet digital PCR system for absolute quantitation of DNA copy number
Hindson, B. J., Ness, K. D., Masquelier, D. A., Belgrader, P., Heredia, N. J., Makarewicz, A. J., Bright, I. J., Lucero, M. Y., Hiddessen, A. L., Legler, T. C., et al. (2011) · Analytical Chemistry · doi:10.1021/ac202028g · Cited by 2,792
Wallace, D. C. (2012) · Nature Reviews Cancer · doi:10.1038/nrc3365 · Cited by 2,404
Predicting the functional impact of protein mutations: application to cancer genomics
Reva, B., Antipin, Y., & Sander, C. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr407 · Cited by 2,002
Double indexing overcomes inaccuracies in multiplex sequencing on the Illumina platform
Kircher, M., Sawyer, S., & Meyer, M. (2012) · Nucleic Acids Research · doi:10.1093/nar/gkr771 · Cited by 1,106 · cited 1×
“A double-indexed Illumina sequencing library, with barcodes specific for each sample, was prepared from each extract as described previously (26).”
MethodMitochondrial DNA Genetics and the Heteroplasmy Conundrum in Evolution and Disease
Wallace, D. C., & Chalkia, D. (2013) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a021220 · Cited by 654
Cited by
Lineage Tracing in Humans Enabled by Mitochondrial Mutations and Single-Cell Genomics
Ludwig, L. S., Lareau, C. A., Ulirsch, J. C., Christian, E., Muus, C., Li, L. H., Pelka, K., Ge, W., Oren, Y., Brack, A., et al. (2019) · Cell · doi:10.1016/j.cell.2019.01.022 · Cited by 567
Reconsidering the Role of Mitochondria in Aging
Gonzalez-Freire, M., de Cabo, R., Bernier, M., Sollott, S. J., Fabbri, E., Navas, P., & Ferrucci, L. (2015) · The Journals of Gerontology Series A: Biological Sciences and Medical Sciences · doi:10.1093/gerona/glv070 · Cited by 244
The ageing neuromuscular system and sarcopenia: A mitochondrial perspective
Rygiel, K. A., Picard, M., & Turnbull, D. M. (2016) · The Journal of Physiology · doi:10.1113/jp271212 · Cited by 165
Arbeithuber, B., Cremona, M. A., Hester, J., Barrett, A., Higgins, B., Anthony, K., Chiaromonte, F., Diaz, F. J., & Makova, K. D. (2022) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2118740119 · Cited by 40
Mitochondrial mutation, drift and selection during human development and ageing
Campbell, P., Chapman, M. S., Przybilla, M., Lawson, A., Mitchell, E., Dawson, K., Williams, N., Harvey, L., Ranzoni, A. M., Cvejic, A., et al. (2023) · doi:10.21203/rs.3.rs-3083262/v1 · Cited by 27
Metadata
- Authors
- Li, M., Schröder, R., Ni, S., Madea, B., & Stoneking, M.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2015-02-09
- Volume
- 112
- Issue
- 8
- Pages
- 2491-2496
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2080601544
- Cited by
- 278
- References
- 35
- FWCI
- 7.08
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Li, M., Schröder, R., Ni, S., Madea, B., & Stoneking, M. (2015). Extensive tissue-related and allele-related mtDNA heteroplasmy suggests positive selection for somatic mutations. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.1419651112
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