Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Ancient mtDNA genetic variants modulate mtDNA transcription and replication.

PLoS genetics - 1 May 2009

Suissa Sarit, Wang Zhibo, Poole Jason, Wittkopp Sharine, Feder Jeanette, Shutt Timothy E, Wallace Douglas C, Shadel Gerald S, Mishmar Dan

Abstract excerpt

Although the functional consequences of mitochondrial DNA (mtDNA) genetic backgrounds (haplotypes, haplogroups) have been demonstrated by both disease association studies and cell culture experiments, it is not clear which of the mutations within the haplogroup carry functional implications and which are "evolutionary silent hitchhikers". We set forth to study the functionality of haplogroup-defining mutations...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA, Mitochondrial
Share to DNA Replication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Dosage

Share to Genome, Human

Share to Genome, Mitochondrial

Share to Mitochondrial Proteins

Share to Point Mutation

Share to Regulatory Sequences, Nucleic Acid

Source

Open in PubMed Open full text

Identifiers

PMID: 19424428
DOI: 10.1371/journal.pgen.1000474
PMCID: PMC2673036

Genes

TFAM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ancient mtDNA genetic variants modulate mtDNA transcription and replication.PMID 19424428Read ↗

Ancient Out-of-Africa Mitochondrial DNA Variants Associate with Distinct Mitochondrial Gene Expression Patterns.Semantic proximity Read ↗

Nuclear genetic control of mtDNA copy number and heteroplasmy in humansSemantic proximity Read ↗

Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations.Semantic proximity Read ↗

Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.Semantic proximity Read ↗

A mutational gradient drives somatic mutation accumulation in mitochondrial DNA and influences germline polymorphisms and genome compositionSemantic proximity Read ↗

Universal heteroplasmy of human mitochondrial DNA.Semantic proximity Read ↗

Mechanism of age-related accumulation of mtDNA mutations in human blood.Semantic proximity Read ↗

MtDNA meta-analysis reveals both phenotype specificity and allele heterogeneity: a model for differential association.Semantic proximity Read ↗

Mechanism of age-related accumulation of mitochondrial DNA mutations in human bloodSemantic proximity Read ↗

Discovering functional DNA elements using population genomic information: a proof of concept using human mtDNA.Semantic proximity Read ↗

Beyond copy number: The regulatory architecture of mitochondrial DNA gene expressionSemantic proximity Read ↗

Haplogroup Context is Less Important in the Penetrance of Mitochondrial DNA Complex I Mutations Compared to mt-tRNA Mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.