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Record W2480220181 · doi:10.1017/cbo9781139087216.015

The legacy of mitochondrial DNA

2003· book-chapter· en· W2480220181 on OpenAlexaff
Eric A. Shoubridge

Bibliographic record

VenueCambridge University Press eBooks · 2003
Typebook-chapter
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicMitochondrial Function and Pathology
Canadian institutionsMcGill University
Fundersnot available
KeywordsOxidative phosphorylationMitochondrial DNAATP synthaseMitochondrionElectrochemical gradientElectron transport chainPhosphorylationInner mitochondrial membraneBiochemistryCell biologyAdenosine triphosphateBiologyRespiratory chainEnzymeFunction (biology)DNAATP–ADP translocaseChemistryGeneMembrane

Abstract

fetched live from OpenAlex

Introduction Most eukaryotic cells rely on ATP produced by oxidative phosphorylation for their normal function. This process requires the activity of five multisubunit enzyme complexes located in the inner mitochondrial membrane. Electron transport along complexes I-IV of the respiratory chain creates an electrochemical gradient for protons, which is used to drive the synthesis of ATP from ADP and inorganic phosphate by complex V, ATP synthetase. These multimeric complexes are unique in the cell in that the component polypeptide subunits are encoded by both the nuclear and mitochondrial (mtDNA) genomes. Of the approximately 80 structural subunits of oxidative phosphorylation, 13 are mtDNA-encoded, and all are essential for function. It has long been established that mtDNA is maternally inherited in mammals (Giles et al., 1980). As mitochondria are not made de novo, but rather only elaborated from other mitochondria, all of our mitochondria ultimately derive from those in one of our mother's oocytes. Paternal mitochondria containing mtDNA are present in the early embryo; however, they are rapidly degraded by a process that remains poorly understood. Mutations in mtDNA in humans are an important cause of a group of multisystem disorders usually referred to as mitochondrial encephalomyopathies because of the prominent involvement of the nervous system and striated muscle (Wallace, 1999; Schon, 2000; DiMauro and Schon, 2001). The minimum prevalence of these disorders has been estimated at about 1:8000 in a Caucasian population in northern England (Chinnery et al., 2000a). The rules governing the transmission and segregation of mtDNA in the female germline have thus taken on a renewed importance for genetic counselling and the clinical management of patients affected by these disorders. Further, the introduction of new reproductive technologies, such as cytoplasmic transfer, direct intracytoplasmic sperm injection (ICSI) and animal cloning, have forced a re-evaluation of the potential contribution of exogenous or paternally derived mitochondria to the next generation. In this chapter, the current knowledge in these areas will be reviewed. Mitochondrial DNA: structure, replication and expression The mtDNA of all mammals investigated has the same basic structure: a double-stranded circular DNA molecule of ∼16.5 kilobases (kb) (Figure 14.1). The two strands are referred to as heavy (H) and light (L) reflecting their behaviour in caesium chloride (CsCl) density gradients.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.002
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.014
Threshold uncertainty score0.046

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.002
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0010.004
Scholarly communication0.0030.004
Open science0.0010.002
Research integrity0.0010.004
Insufficient payload (model declined to judge)0.0140.007

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.014
GPT teacher head0.199
Teacher spread0.184 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designNot applicable
Domainnot available
GenreReview

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations1
Published2003
Admission routes1
Has abstractyes

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