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

The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates.

American journal of human genetics - 1 Mar 2003

Howell Neil, Smejkal Christy Bogolin, Mackey D A, Chinnery P F, Turnbull D M, Herrnstadt Corinna

Abstract excerpt

We have extended our previous analysis of the pedigree rate of control-region divergence in the human mitochondrial genome. One new germline mutation in the mitochondrial DNA (mtDNA) control region was detected among 185 transmission events (generations) from five Leber hereditary optic neuropathy (LHON) pedigrees. Pooling the LHON pedigree analyses yields a control-region divergence rate of 1.0 mutation/bp/10(6)...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Germ-Line Mutation

Share to Locus Control Region

Share to Models, Genetic

Share to Optic Atrophy, Hereditary, Leber

Share to Pedigree

Share to Phylogeny

Source

Open in PubMed Open full text

Identifiers

PMID: 12571803
DOI: 10.1086/368264
PMCID: PMC1180241

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates.PMID 12571803Read ↗

Pedigree Derived Mutation Rate Across the Entire Mitochondrial Genome of the Norfolk Island PopulationSemantic proximity Read ↗

How rapidly does the human mitochondrial genome evolve?Semantic proximity Read ↗

Are pedigree-based mutation rates the Rosetta Stone of molecular ecology? Promises and pitfalls of whole genome comparisons among closely related individuals.Semantic proximity Read ↗

Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy.Semantic proximity Read ↗

Mutationathon: towards standardization in estimates of pedigree-based germline mutation ratesSemantic proximity Read ↗

Phylogenetic and familial estimates of mitochondrial substitution rates: study of control region mutations in deep-rooting pedigrees.Semantic proximity Read ↗

The rate and nature of mitochondrial DNA mutations in human pedigrees.Semantic proximity Read ↗

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.Semantic proximity Read ↗

A population phylogenetic view of mitochondrial heteroplasmySemantic proximity Read ↗

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

Segregation of point mutation heteroplasmy in the control region of dog mtDNA studied systematically in deep generation pedigrees.Semantic proximity Read ↗

Detecting mtDNA Effects with an Extended Pedigree Model: An Analysis of Statistical Power and Estimation Bias.Semantic proximity Read ↗

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