ArticleHuman mutation2008
A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals.
Article in Human mutation, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed.
- Mechanisms and regulation of human mitochondrial transcription.Nature reviews. Molecular cell biology · 2024Review
- Human mitochondrial DNA replication.Cold Spring Harbor perspectives in biology · 2012Review
- Rebooting the human mitochondrial phylogeny: an automated and scalable methodology with expert knowledge.BMC bioinformatics · 2011Article
- 2010 Presidential Address: Culture: the silent language geneticists must learn--genetic research with indigenous populations.American journal of human genetics · 2011Article
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Authors and funding
11 authors.
Funding
Abstract
The biological role of the mitochondrial DNA (mtDNA) control region in mtDNA replication remains unclear. In a worldwide survey of mtDNA variation in the general population, we have identified a novel large control region deletion spanning positions 16154 to 16307 (m.16154_16307del154). The population prevalence of this deletion is low, since it was only observed in 1 out of over 120,000 mtDNA genomes studied. The deletion is present in a nonheteroplasmic state, and was transmitted by a mother to her two sons with no apparent past or present disease conditions. The identification of this large deletion in healthy individuals challenges the current view of the control region as playing a crucial role in the regulation of mtDNA replication, and supports the existence of a more complex system of multiple or epigenetically-determined replication origins.
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