mtDNA Heteroplasmy: Origin, Detection, Significance, and Evolutionary Consequences
Mitochondrial DNA (mtDNA) is predominately uniparentally transmitted. This results in organisms with a single type of mtDNA (homoplasmy), but two or more mtDNA haplotypes have been observed in low frequency in several species (heteroplasmy). In this review, we aim to highlight several aspects of het...
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MDPI AG
2021-06-01
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| Series: | Life |
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| Online Access: | https://www.mdpi.com/2075-1729/11/7/633 |
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| author | Maria-Eleni Parakatselaki Emmanuel D. Ladoukakis |
| author_facet | Maria-Eleni Parakatselaki Emmanuel D. Ladoukakis |
| author_sort | Maria-Eleni Parakatselaki |
| collection | DOAJ |
| description | Mitochondrial DNA (mtDNA) is predominately uniparentally transmitted. This results in organisms with a single type of mtDNA (homoplasmy), but two or more mtDNA haplotypes have been observed in low frequency in several species (heteroplasmy). In this review, we aim to highlight several aspects of heteroplasmy regarding its origin and its significance on mtDNA function and evolution, which has been progressively recognized in the last several years. Heteroplasmic organisms commonly occur through somatic mutations during an individual’s lifetime. They also occur due to leakage of paternal mtDNA, which rarely happens during fertilization. Alternatively, heteroplasmy can be potentially inherited maternally if an egg is already heteroplasmic. Recent advances in sequencing techniques have increased the ability to detect and quantify heteroplasmy and have revealed that mitochondrial DNA copies in the nucleus (NUMTs) can imitate true heteroplasmy. Heteroplasmy can have significant evolutionary consequences on the survival of mtDNA from the accumulation of deleterious mutations and for its coevolution with the nuclear genome. Particularly in humans, heteroplasmy plays an important role in the emergence of mitochondrial diseases and determines the success of the mitochondrial replacement therapy, a recent method that has been developed to cure mitochondrial diseases. |
| first_indexed | 2024-03-10T09:57:58Z |
| format | Article |
| id | doaj.art-9db20e582ade476da7be7cdf541e83fe |
| institution | Directory Open Access Journal |
| issn | 2075-1729 |
| language | English |
| last_indexed | 2024-03-10T09:57:58Z |
| publishDate | 2021-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Life |
| spelling | doaj.art-9db20e582ade476da7be7cdf541e83fe2023-11-22T02:14:11ZengMDPI AGLife2075-17292021-06-0111763310.3390/life11070633mtDNA Heteroplasmy: Origin, Detection, Significance, and Evolutionary ConsequencesMaria-Eleni Parakatselaki0Emmanuel D. Ladoukakis1Department of Biology, University of Crete, 70013 Heraklion, GreeceDepartment of Biology, University of Crete, 70013 Heraklion, GreeceMitochondrial DNA (mtDNA) is predominately uniparentally transmitted. This results in organisms with a single type of mtDNA (homoplasmy), but two or more mtDNA haplotypes have been observed in low frequency in several species (heteroplasmy). In this review, we aim to highlight several aspects of heteroplasmy regarding its origin and its significance on mtDNA function and evolution, which has been progressively recognized in the last several years. Heteroplasmic organisms commonly occur through somatic mutations during an individual’s lifetime. They also occur due to leakage of paternal mtDNA, which rarely happens during fertilization. Alternatively, heteroplasmy can be potentially inherited maternally if an egg is already heteroplasmic. Recent advances in sequencing techniques have increased the ability to detect and quantify heteroplasmy and have revealed that mitochondrial DNA copies in the nucleus (NUMTs) can imitate true heteroplasmy. Heteroplasmy can have significant evolutionary consequences on the survival of mtDNA from the accumulation of deleterious mutations and for its coevolution with the nuclear genome. Particularly in humans, heteroplasmy plays an important role in the emergence of mitochondrial diseases and determines the success of the mitochondrial replacement therapy, a recent method that has been developed to cure mitochondrial diseases.https://www.mdpi.com/2075-1729/11/7/633mtDNAheteroplasmypaternal leakageNUMTsselection |
| spellingShingle | Maria-Eleni Parakatselaki Emmanuel D. Ladoukakis mtDNA Heteroplasmy: Origin, Detection, Significance, and Evolutionary Consequences Life mtDNA heteroplasmy paternal leakage NUMTs selection |
| title | mtDNA Heteroplasmy: Origin, Detection, Significance, and Evolutionary Consequences |
| title_full | mtDNA Heteroplasmy: Origin, Detection, Significance, and Evolutionary Consequences |
| title_fullStr | mtDNA Heteroplasmy: Origin, Detection, Significance, and Evolutionary Consequences |
| title_full_unstemmed | mtDNA Heteroplasmy: Origin, Detection, Significance, and Evolutionary Consequences |
| title_short | mtDNA Heteroplasmy: Origin, Detection, Significance, and Evolutionary Consequences |
| title_sort | mtdna heteroplasmy origin detection significance and evolutionary consequences |
| topic | mtDNA heteroplasmy paternal leakage NUMTs selection |
| url | https://www.mdpi.com/2075-1729/11/7/633 |
| work_keys_str_mv | AT mariaeleniparakatselaki mtdnaheteroplasmyorigindetectionsignificanceandevolutionaryconsequences AT emmanueldladoukakis mtdnaheteroplasmyorigindetectionsignificanceandevolutionaryconsequences |