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Fig. 2. — Mitochondrial function in development and disease.
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Created: 2026-04-21T18:29:40
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Fig. 2.Figure 2
Organization and replication of the human mitochondrial genome. (A) Map of mtDNA. The black arrows point to the nucleotides affected in the indicated diseases; the black bar depicts the span of the ‘common deletion’ in mtDNA, which accounts for a third of Kearns-Sayre syndrome (KSS) cases (see Table 3 ). HSP, H-strand promoter; LHON, Leber hereditary optic neuropathy; LSP, L-strand promoter; MELAS, Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; MERFF, myoclonic epilepsy with ragged red fibers; NCR, non-coding control region (also known as D-loop region); PEO, progressive external ophthalmoplegia. (B) Strand displacement model of mtDNA replication. After initiation of replication at O H by an RNA primer transcribed by mitochondrial DNA-directed RNA polymerase (POLRMT), POLRMT is replaced by Polγ, which synthesizes the full-length nascent daughter heavy (H)-strand using the light (L)-strand DNA as the template, with the Twinkle helicase moving on the
▸Metadata
| pmid | 277d6fab-2b93-4984-bc0b-4c0c08a75d1b |
| caption | Organization and replication of the human mitochondrial genome. (A) Map of mtDNA. The black arrows point to the nucleotides affected in the indicated diseases; the black bar depicts the span of the ‘ |
| image_url | https://www.ebi.ac.uk/europepmc/articles/PMC8214736/bin/dmm-14-048912-g2.jpg |
| paper_title | Mitochondrial function in development and disease. |
| figure_label | Fig. 2. |
| figure_number | 2 |
| _schema_version | 1 |
| source_strategy | pmc_api |
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