Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Heteroplasmic point mutations in the human mtDNA control region

K E Bendall1, V A Macaulay, J R Baker

  • 1Department of Cellular Science, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, United Kingdom. kbendall@worfmolbiol.ox.ac.uk

American Journal of Human Genetics
|December 1, 1996
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Enhanced two-photon biosensing with double-clad photonic crystal fibers.

Optics letters·2003
Same author

Inactivation of Ebola virus with a surfactant nanoemulsion.

Acta tropica·2003
Same author

Combination of electroporation and DNA/dendrimer complexes enhances gene transfer into murine cardiac transplants.

American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons·2002
Same author

Literature alert.

Current allergy and asthma reports·2002
Same author

Literature alert.

Current allergy and asthma reports·2002
Same author

Literature Alert..

Current allergy and asthma reports·2002
Same journal

Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies.

American journal of human genetics·2026
Same journal

Bi-allelic missense variants in human GPN2 result in Perrault syndrome.

American journal of human genetics·2026
Same journal

Integrative analysis of gastric tissue transcriptomes and gastric cancer GWAS implicates candidate susceptibility genes.

American journal of human genetics·2026
Same journal

A transparent and generalizable deep-learning framework for genomic ancestry prediction.

American journal of human genetics·2026
Same journal

Data-driven RNA phenotyping captures genetically regulated dimensions of the transcriptome.

American journal of human genetics·2026
Same journal

Linkage disequilibrium and allelic heterogeneity explain variation in coronary artery disease risk at 9p21 across populations and reduced effect in Africans.

American journal of human genetics·2026
See all related articles

Mitochondrial DNA (mtDNA) mutation rates in humans were investigated using twin pairs. Researchers found evidence of heteroplasmy and calculated mutation and fixation rates in the mtDNA control region.

Area of Science:

  • Genetics
  • Human Genetics
  • Mitochondrial Genetics

Background:

  • Mitochondrial DNA (mtDNA) mutations are implicated in human aging and disease.
  • Understanding the mechanisms of mtDNA mutation fixation is crucial for human health research.
  • Twin studies offer a unique model to investigate genetic and environmental influences on mutation dynamics.

Purpose of the Study:

  • To investigate the mechanisms of mitochondrial DNA (mtDNA) mutation fixation in humans.
  • To determine the frequency of site heteroplasmy in human populations.
  • To estimate the mutation and fixation rate in the human mtDNA control region.

Main Methods:

  • Sequencing the first hypervariable segment of the mtDNA control region in 180 human twin pairs.
  • Analyzing mitochondrial haplotype proportions within twin pairs and maternal relatives using primer extension.

Related Experiment Videos

  • Calculating bottleneck sizes in mitochondrial numbers during offspring development based on mother-offspring haplotype proportion changes.

    • Main Results:

    • Evidence of site heteroplasmy was found in 4 out of 180 twin pairs.
    • Significant levels of distinct mitochondrial haplotypes were observed in monozygotic (MZ) twin pairs.
    • Bottleneck sizes in mitochondrial numbers during development typically ranged from 3 to 20 segregating units.
    • The estimated mutation and fixation rate in the human mtDNA control region was calculated to be between 1.2 x 10(-6) and 2.7 x 10(-5) per site per generation.

    Conclusions:

    • The study provides insights into the dynamics of mtDNA mutation and fixation in humans.
    • Calculated mutation rates align with previous estimates, validating the methodology.
    • Findings contribute to understanding the genetic basis of mitochondrial variation and its implications.