Updating the African human mitochondrial DNA tree: Relevance to forensic and population genetics

2017 ◽  
Vol 27 ◽  
pp. 156-159 ◽  
Author(s):  
Tanja Heinz ◽  
Maria Pala ◽  
Alberto Gómez-Carballa ◽  
Martin B. Richards ◽  
Antonio Salas
Keyword(s):  
Population Genetics ◽  
Mitochondrial Dna ◽  
Human Mitochondrial Dna

scholarly journals Pairwise comparisons of mitochondrial DNA sequences in subdivided populations and implications for early human evolution.

Genetics ◽  
1994 ◽  
Vol 136 (2) ◽  
pp. 673-683 ◽  
Author(s):  
P Marjoram ◽  
P Donnelly
Keyword(s):  
Population Genetics ◽  
Mitochondrial Dna ◽  
Dna Sequences ◽  
Human Populations ◽  
Human Mitochondrial Dna ◽  
Multimodal Distributions ◽  
Subdivided Populations ◽  
Migration Dynamics ◽  
Pairwise Differences ◽  
Mutation Mechanisms

Abstract We consider the effect on the distribution of pairwise differences between mitochondrial DNA sequences of the incorporation into the underlying population genetics model of two particular effects that seem realistic for human populations. The first is that the population size was roughly constant before growing to its current level. The second is that the population is geographically subdivided rather than panmictic. In each case these features tend to encourage multimodal distributions of pairwise differences, in contrast to existing, unimodal datasets. We argue that population genetics models currently used to analyze such data may thus fail to reflect important features of human mitochondrial DNA evolution. These may include selection on the mitochondrial genome, more realistic mutation mechanisms, or special population or migration dynamics. Particularly in view of the variability inherent in the single available human mitochondrial genealogy, it is argued that until these effects are better understood, inferences from such data should be rather cautious.

Geographic Origin of Human Mitochondrial DNA Revisited

1992 ◽  
Vol 41 (3) ◽  
pp. 384-391 ◽  
Author(s):  
M. Stoneking ◽  
S. T. Sherry ◽  
L. Vigilant
Keyword(s):  
Mitochondrial Dna ◽  
Geographic Origin ◽  
Human Mitochondrial Dna

Human Mitochondrial DNA Polymerase Holoenzyme: Reconstitution and Characterization†

Biochemistry ◽  
2000 ◽  
Vol 39 (7) ◽  
pp. 1702-1708 ◽  
Author(s):  
Allison A. Johnson ◽  
Yu-chih Tsai ◽  
Steven W. Graves ◽  
Kenneth A. Johnson
Keyword(s):  
Mitochondrial Dna ◽  
Dna Polymerase ◽  
Human Mitochondrial Dna ◽  
Mitochondrial Dna Polymerase

scholarly journals Modular Architecture of the Hexameric Human Mitochondrial DNA Helicase

2007 ◽  
Vol 367 (5) ◽  
pp. 1382-1391 ◽  
Author(s):  
Tawn D. Ziebarth ◽  
Carol L. Farr ◽  
Laurie S. Kaguni
Keyword(s):  
Mitochondrial Dna ◽  
Dna Helicase ◽  
Modular Architecture ◽  
Human Mitochondrial Dna

Assignment of two mitochondrially synthesized polypeptides to human mitochondrial DNA and their use in the study of intracellular mitochondrial interaction

1982 ◽  
Vol 2 (1) ◽  
pp. 30-41
Author(s):  
N A Oliver ◽  
D C Wallace
Keyword(s):  
Mitochondrial Dna ◽  
Restriction Site ◽  
Mitochondrial Protein ◽  
Mitochondrial Protein Synthesis ◽  
Human Mitochondrial Dna ◽  
Ht1080 Cells ◽  
Mitochondrial Dnas ◽  
A Cell ◽  
Dna Restriction ◽  
Restriction Site Polymorphisms

Two mitochondrially synthesized marker polypeptides, MV-1 and MV-2, were found in human HeLa and HT1080 cells. These were assigned to the mitochondrial DNA in HeLa-HT1080 cybrids and hybrids by demonstrating their linkage to cytoplasmic genetic markers. These markers include mitochondrial DNA restriction site polymorphisms and resistance to chloramphenicol, an inhibitor of mitochondrial protein synthesis. In the absence of chloramphenicol, the expression of MV-1 and MV-2 in cybrids and hybrids was found to be directly proportional to the ratio of the parental mitochondrial DNAs. In the presence of chloramphenicol, the marker polypeptide linked to the chloramphenicol-sensitive mitochondrial DNA continued to be expressed. This demonstrated that resistant and sensitive mitochondrial DNAs can cooperate within a cell for gene expression and that the CAP-resistant allele was dominant or codominant to sensitive. Such cooperation suggests that mitochondrial DNAs can be exchanged between mitochondria.

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

1993 ◽  
Vol 3 (1) ◽  
pp. 43-50 ◽  
Author(s):  
Carlos T. Moraes ◽  
Federica Ciacci ◽  
Gabriella Silvestri ◽  
Sara Shanske ◽  
Monica Sciacco ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Human Mitochondrial Dna ◽  
Clinical Presentations
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