Related Experiment Video
Updated: Jul 28, 2026

11:40
Preparation of the Mgm101 Recombination Protein by MBP-based Tagging Strategy
Published on: June 25, 2013
What do patterns of genetic variability reveal about mitochondrial recombination?
1Department of Statistics, 1 South Parks Road, Oxford OX1 3TG, UK. mcvean@stats.ox.ac.uk
Heredity
|March 21, 2002
Summary
Mitochondrial genetic variability in humans likely lacks recombination. Analyzing linkage disequilibrium reveals patterns requiring explanation by mutation or selection, not just recombination.
Area of Science:
- Genetics
- Evolutionary Biology
- Bioinformatics
Background:
- Recent claims suggest mitochondrial genetic variability patterns indicate recombination in humans.
- This has sparked debate regarding data quality, analysis methods, and biological plausibility.
- The majority of evidence currently indicates a lack of effective mitochondrial recombination in humans.
Purpose of the Study:
- To address the difficulty in detecting recombination in genomes with complex mutation processes and demographic histories.
- To investigate the lack of consensus in measuring linkage disequilibrium.
- To explain the observed negative correlation between linkage disequilibrium and distance.
Main Methods:
- Analysis of genetic variability patterns in human mitochondria.
- Evaluation of different linkage disequilibrium measures.
- Statistical comparison of informative pairwise comparisons for recombination detection.
Main Results:
- Measures of linkage disequilibrium differ in how they handle uninformative data.
- Agreement is found between different statistics when using only recombination-informative pairwise comparisons.
- A significant negative correlation between linkage disequilibrium and distance is a real pattern in some datasets.
Conclusions:
- The detection of mitochondrial recombination is challenging due to unusual mutation processes and demographic histories.
- A negative correlation between linkage disequilibrium and distance in human mitochondrial DNA requires explanation.
- Plausible mutational and selective processes may explain observed genetic patterns, rather than recombination.
Related Concept Videos
Animal Mitochondrial Genetics
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
Export of Mitochondrial and Chloroplast Genes
A eukaryotic cell can have up to three different types of genetic systems: nuclear, mitochondrial, and chloroplast. During evolution, organelles have exported many genes to the nucleus; this transfer is still ongoing in some plant species. Approximately 18% of the Arabidopsis thaliana nuclear genome is thought to be derived from the chloroplast’s cyanobacterial ancestor, and around 75% of the yeast genome derived from the mitochondria’s bacterial ancestor. This export has occurred irrespective...
Gene Conversion
Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
Conservative Site-specific Recombination and Phase Variation
Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
The recognition sites for Cre recombinase called LoxP...
The recognition sites for Cre recombinase called LoxP...
Exon Recombination
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Crossing Over
Crossing over is the exchange of genetic information between homologous chromosomes during prophase I of meiosis I. Genetic recombination gives rise to allelic diversity in the newly formed daughter cells. In humans, crossing over produces genetically distinct haploid egg and sperm cells that undergo fertilization to produce unique offspring. Before cell division starts, the germ cell’s chromosome(s) undergo duplication in the S phase of the cell cycle. As the cells enter prophase I, duplicated...

