A concordance of nucleotide substitutions in the first and second hypervariable segments of the human mtDNA control region

@article{Miller2005ACO,
  title={A concordance of nucleotide substitutions in the first and second hypervariable segments of the human mtDNA control region},
  author={Kevin W. P. Miller and Erika Hagelberg and John L. Dawson},
  journal={International Journal of Legal Medicine},
  year={2005},
  volume={109},
  pages={107-113}
}
A new and easily accessible concordance of nucleotide substitutions in the hypervariable segments of the human mitochondrial DNA (mtDNA) control region has been constructed. The concordance indexes all population-specific mtDNA sequences in a standardized format. The first edition of the concordance includes 1,440 sequences representing 762 mtDNA types from over 65 populations for hypervariable region 1, and 520 sequences representing 260 mtDNA types from over 26 populations for hypervariable… 

Ancient human mtDNA genotypes from England reveal lost variation over the last millennium

TLDR
It is found that the historical sample shows greater genetic diversity than for modern England and other modern populations, indicating the loss of diversity over the last millennium.

Mitochondrial DNA control region sequences from Nairobi (Kenya): inferring phylogenetic parameters for the establishment of a forensic database

TLDR
A high quality mtDNA control region sequence database for urban Nairobi is established as both a reference database for forensic investigations, and as a tool to examine the genetic variation of Kenyan sequences in the context of known African variation.

Phantom mutation hotspots in human mitochondrial DNA

TLDR
An experimental study executed on four samples under various combinations of sequencing conditions revealed a number of phantom mutations occurring at the same sites of mitochondrial DNA (mtDNA) repeatedly, which could easily lead to misidentification of somatic mutations and to misinterpretations in all kinds of clinical mtDNA studies.

Mitochondrial DNA- a Tool for Phylogenetic and Biodiversity Search in Equines

TLDR
Many native breeds of horses as well as ponies were assessed for their genetic diversity and ancestry on the basis of studies on mitochondrial DNA to address the questions of evolution along with breed development and conservation.

Correction: no evidence of an association between the T16189C mtDNA variant and late onset dementia (Gibson et al)

TLDR
The title of Chinnery et al's paper should be corrected because the data the authors present do not include an analysis of the 16189 variant of mtDNA, resulting from a T16189C transition that may generate heteroplasmic length variation.

Frequent somatic mutations of mitochondrial DNA in esophageal squamous cell carcinoma

TLDR
It is suggested that mtDNA mutations might show a genetic instability in esophageal cancer independently from a nuclear genome instability.

GENETIC ANALYSIS

The human body is composed of diploid cells that carry identical DNA and haploid gametes (egg and sperm) that carry sex chromosome either X or Y. The human genome is composed of over 3 billion base

Analyses of Wild Ungulates Mitogenome

TLDR
The methods and principles derived from mtDNA studies on wild ungulate species are described, and basic sequence preparation methods and specialized software for mitogenome assembly and annotation are outlined.

Limited clinical relevance of mitochondrial DNA mutation and gene expression analyses in ovarian cancer

TLDR
Clinical relevance of mitochondrial molecular analyses in ovarian carcinomas is indicated with rather limited clinical relevance, and the expression of the mitochondrial gene RNR1 might be used as a predictor of tumour sensitivity to chemotherapy.

References

SHOWING 1-10 OF 32 REFERENCES

The application of mitochondrial DNA typing to the study of white Caucasian genetic identification

TLDR
Different methods of genetic analysis were used to examine the variation in each region, including pairwise comparisons, which demonstrated that although the data did not fit a Poisson distribution, the fit was closer to a Negative Binomial distribution.

Evolutionary history of the COII/tRNALys intergenic 9 base pair deletion in human mitochondrial DNAs from the Pacific.

TLDR
Analysis of pairwise difference distributions indicates an expansion time of proto-Polynesians that began 5,500 yr ago from Southeast Asia, consistent with the express train model of Polynesian origins.

Mitochondrial DNA sequences from Switzerland reveal striking homogeneity of European populations.

TLDR
The homogeneity of the mitochondrial gene pool in Europe suggests a recent common ancestry for European populations, which may reflect the arrival of anatomically modern humans about 40,000-30,000 years ago or, alternatively, the spread of agriculturalists about 10, thousands of years ago.

Branching pattern in the evolutionary tree for human mitochondrial DNA.

  • A. Di RienzoA. Wilson
  • Biology
    Proceedings of the National Academy of Sciences of the United States of America
  • 1991
TLDR
Eighty-eight types of mitochondrial DNA were found by sequencing the most variable part of the control region from 117 Caucasians, implying that the probability of survival of new lineages has undergone dramatic changes, probably due to population expansion.

Human mitochondrial DNA variation and the origin of Basques

The hypervariable segment I of the control region of the mtDNA (positions 16024–16383) was PCR‐amplified from mouth scrape and hairs and sequenced in 45 unrelated individuals of pure matrilineal

Sequence and organization of the human mitochondrial genome

TLDR
The complete sequence of the 16,569-base pair human mitochondrial genome is presented and shows extreme economy in that the genes have none or only a few noncoding bases between them, and in many cases the termination codons are not coded in the DNA but are created post-transcriptionally by polyadenylation of the mRNAs.

Genetic variation among the Mapuche Indians from the Patagonian region of Argentina: mitochondrial DNA sequence variation and allele frequencies of several nuclear genes.

TLDR
The mtDNA sequence similarity between Amerind populations suggests that the migration throughout the Americas occurred rapidly relative to the mtDNA mutation rate.

Asian affinities and continental radiation of the four founding Native American mtDNAs.

TLDR
Observations suggest that the process of tribalization began early in the history of the Amerinds, with relatively little intertribal genetic exchange occurring subsequently.

Genes and languages in Europe: an analysis of mitochondrial lineages.

TLDR
It is argued that this apparent contradiction is attributable to the fact that genetic lineages and gene frequencies reflect different time perspectives on population history, the latter being more in concordance with linguistic evolution.

Mitochondrial DNA sequences in single hairs from a southern African population.

TLDR
Evidence of geographic structuring of the mitochondrial diversity in Africa, together with knowledge of the rate of accumulation of base changes in human mtDNA, implies that the average rate at which female lineages have moved their home bases during hunter-gatherer times could be as low as 13 meters per year.