scholarly journals Length mutations in human mitochondrial DNA: direct sequencing of enzymatically amplified DNA

1987 ◽  
Vol 15 (2) ◽  
pp. 529-541 ◽  
Author(s):  
Lisa A. Wrischnik ◽  
Russell G. Higuchi ◽  
Mark Stoneking ◽  
Henry A. Erlich ◽  
Norman Arnheim ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Direct Sequencing ◽  
Human Mitochondrial Dna ◽  
Length Mutations

scholarly journals LENGTH MUTATIONS IN HUMAN MITOCHONDRIAL DNA

Genetics ◽  
1983 ◽  
Vol 104 (4) ◽  
pp. 699-711
Author(s):  
R L Cann ◽  
A C Wilson
Keyword(s):  
Nuclear Dna ◽  
Average Rate ◽  
Rapid Evolution ◽  
Human Species ◽  
Base Pairs ◽  
Human Mitochondrial Dna ◽  
Noncoding Sequences ◽  
Mitochondrial Dnas ◽  
D Loop ◽  
Length Mutations

ABSTRACT By high-resolution, restriction mapping of mitochondrial DNAs purified from 112 human individuals, we have identified 14 length variants caused by small additions and deletions (from about 6 to 14 base pairs in length). Three of the 14 length differences are due to mutations at two locations within the D loop, whereas the remaining 11 occur at seven sites that are probably within other noncoding sequences and at junctions between coding sequences. In five of the nine regions of length polymorphism, there is a sequence of five cytosines in a row, this sequence being comparatively rare in coding DNA. Phylogenetic analysis indicates that, in most of the polymorphic regions, a given length mutation has arisen several times independently in different human lineages. The average rate at which length mutations have been arising and surviving in the human species is estimated to be many times higher for noncoding mtDNA than for noncoding nuclear DNA. The mystery of why vertebrate mtDNA is more prone than nuclear DNA to evolve by point mutation is now compounded by the discovery of a similar bias toward rapid evolution by length mutation.

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.

Molecular evolution and biology of human mitochondrial DNA

Bioenergetics ◽  
1990 ◽  
pp. 373-387 ◽  
Author(s):  
Satoshi Horai ◽  
Kenji Hayasaka
Keyword(s):  
Mitochondrial Dna ◽  
Molecular Evolution ◽  
Human Mitochondrial Dna

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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