Related Experiment Video
Updated: May 1, 2026
07:24
Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
2.0K
mtDNA haplogroup and single nucleotide polymorphisms structure human microbiome communities.
Jun Ma, Cristian Coarfa, Xiang Qin
1Departments of Obstetrics & Gynecology, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA. aagaardt@bcm.edu.
BMC Genomics
|April 4, 2014
Summary
Host mitochondrial DNA (mtDNA) variations are linked to distinct human microbiome compositions. This study reveals a connection between ancestral genomic markers and the gut and vaginal microbial communities.
Area of Science:
- Genomics
- Microbiology
- Human Genetics
Background:
- The human microbiome's composition is influenced by host genetics, but the extent is unclear.
- Mitochondrial DNA (mtDNA) haplogroups represent ancestral genomic markers with potential biological significance.
- Previous studies noted race/ethnicity-based differences in microbiome composition.
Purpose of the Study:
- To investigate the association between human mtDNA variants and microbiome community structures.
- To explore the biological and clinical implications of host ancestral genomics on the microbiome.
Main Methods:
- Leveraged Human Microbiome Project (HMP) data from 89 individuals.
- Identified 15 mtDNA haplogroups and 631 mtDNA single nucleotide polymorphisms (mtSNPs).
- Analyzed 16S rRNA and whole-genome shotgun sequencing data for microbiome taxonomy and metabolic profiles, using linear regression and PLINK for association analysis.
Main Results:
- Significant associations found between specific mtDNA haplogroups and microbial communities in stool and vaginal samples (q-value < 0.05).
- Aggregate microbial community structure also showed significant association with haplogroups (p < 0.005).
- mtDNA variations may influence microbiome profiles, potentially via inflammatory responses to reactive oxygen species.
Conclusions:
- Provides initial evidence linking host ancestral genomics, specifically mtDNA variations, to the structure of the human microbiome.
- Suggests a potential mechanism involving inflammatory responses and reactive oxygen species.
Related Concept Videos
01:29Modern Molecular Taxonomy
836
Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...
836
01:22Introduction to the Human Microbiota
209
Microorganisms colonize various regions of the human body, including the mouth, nasal passages, throat, stomach, intestines, urogenital tract, and skin. The total number of microbial cells is estimated to range from 10¹³ to 10¹⁴—comparable to, or exceeding, the number of human somatic cells. This host–microbiome relationship has led to the conceptualization of humans as supraorganisms, wherein microbial communities perform vital roles in development, immunity,...
209
01:20Applications of Molecular Taxonomy
705
Molecular taxonomy has revolutionized the understanding and classification of bacteria, providing precise insights into their diversity, evolutionary relationships, and ecological roles. By utilizing molecular techniques such as DNA sequencing and fingerprinting, researchers have made significant strides in various fields related to bacterial studies.Resolving Taxonomic AmbiguitiesMolecular taxonomy has been instrumental in distinguishing closely related bacterial species initially thought to...
705
01:28Microbial Phylogeny
88
Understanding the evolutionary relationships among microorganisms is fundamental to microbial ecology and taxonomy. Phylogenetic trees are essential tools for inferring these relationships, relying primarily on comparative analyses of molecular sequences such as DNA, RNA, or proteins. In microbial studies, these trees typically depict the evolutionary paths of diverse bacterial and archaeal species by mapping genetic differences accumulated over time.Phylogenetic trees are composed of tips,...
88
02:54Evolutionary Relationships through Genome Comparisons
5.8K
Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
5.8K
01:05Single Nucleotide Polymorphisms-SNPs
14.6K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
14.6K