mitochondrial dna


Summary: Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.

Top Publications

  1. ncbi Bayesian coalescent inference of past population dynamics from molecular sequences
    A J Drummond
    Department of Zoology, University of Oxford, Oxford, United Kingdom
    Mol Biol Evol 22:1185-92. 2005
  2. ncbi Selection of conserved blocks from multiple alignments for their use in phylogenetic analysis
    J Castresana
    European Molecular Biology Laboratory, Heidelberg, Germany
    Mol Biol Evol 17:540-52. 2000
  3. ncbi Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation
    Mannis van Oven
    Department of Forensic Molecular Biology, Erasmus University Medical Center Rotterdam, The Netherlands
    Hum Mutat 30:E386-94. 2009
  4. pmc Animal mitochondrial genomes
    J L Boore
    Department of Biology, University of Michigan, 830 North University Avenue, Ann Arbor, MI 48109 1048, USA
    Nucleic Acids Res 27:1767-80. 1999
  5. ncbi Model selection and model averaging in phylogenetics: advantages of akaike information criterion and bayesian approaches over likelihood ratio tests
    David Posada
    Departamento de Bioquimica, Genética e Inmunología, Facultad de Biologia, Universidad de Vigo, Vigo 36200, Spain
    Syst Biol 53:793-808. 2004
  6. ncbi A simulated annealing approach to define the genetic structure of populations
    I Dupanloup
    Dipartimento di Biologia, Universita di Ferrara, Via L Borsari 46, 44100 Ferrara, Italy
    Mol Ecol 11:2571-81. 2002
  7. pmc Correcting for purifying selection: an improved human mitochondrial molecular clock
    Pedro Soares
    Institute of Integrative and Comparative Biology, Faculty of Biological Sciences, University of Leeds, Leeds, UK
    Am J Hum Genet 84:740-59. 2009
  8. ncbi Statistical properties of new neutrality tests against population growth
    Sebastian E Ramos-Onsins
    Departament de Genetica, Universitat de Barcelona, E 08071 Barcelona, Spain
    Mol Biol Evol 19:2092-100. 2002
  9. ncbi Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
    R M Andrews
    Nat Genet 23:147. 1999
  10. ncbi The incomplete natural history of mitochondria
    J William O Ballard
    Department of Biological Sciences, University of Iowa, Iowa City, Iowa 52242, USA
    Mol Ecol 13:729-44. 2004

Detail Information

Publications362 found, 100 shown here

  1. ncbi Bayesian coalescent inference of past population dynamics from molecular sequences
    A J Drummond
    Department of Zoology, University of Oxford, Oxford, United Kingdom
    Mol Biol Evol 22:1185-92. 2005
    ..plot model to previous coalescent approaches by analyzing two real data sets (hepatitis C virus in Egypt and mitochondrial DNA of Beringian bison) that have been previously investigated using alternative coalescent methods...
  2. ncbi Selection of conserved blocks from multiple alignments for their use in phylogenetic analysis
    J Castresana
    European Molecular Biology Laboratory, Heidelberg, Germany
    Mol Biol Evol 17:540-52. 2000
  3. ncbi Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation
    Mannis van Oven
    Department of Forensic Molecular Biology, Erasmus University Medical Center Rotterdam, The Netherlands
    Hum Mutat 30:E386-94. 2009
    Human mitochondrial DNA is widely used as tool in many fields including evolutionary anthropology and population history, medical genetics, genetic genealogy, and forensic science...
  4. pmc Animal mitochondrial genomes
    J L Boore
    Department of Biology, University of Michigan, 830 North University Avenue, Ann Arbor, MI 48109 1048, USA
    Nucleic Acids Res 27:1767-80. 1999
    Animal mitochondrial DNA is a small, extrachromosomal genome, typically approximately 16 kb in size. With few exceptions, all animal mitochondrial genomes contain the same 37 genes: two for rRNAs, 13 for proteins and 22 for tRNAs...
  5. ncbi Model selection and model averaging in phylogenetics: advantages of akaike information criterion and bayesian approaches over likelihood ratio tests
    David Posada
    Departamento de Bioquimica, Genética e Inmunología, Facultad de Biologia, Universidad de Vigo, Vigo 36200, Spain
    Syst Biol 53:793-808. 2004
    ..To illustrate some of these points, we have applied AIC-based model averaging to 37 mitochondrial DNA sequences from the subgenus Ohomopterus(genus Carabus) ground beetles described by Sota and Vogler (2001).
  6. ncbi A simulated annealing approach to define the genetic structure of populations
    I Dupanloup
    Dipartimento di Biologia, Universita di Ferrara, Via L Borsari 46, 44100 Ferrara, Italy
    Mol Ecol 11:2571-81. 2002
    ..The samova algorithm was then applied to a set of European roe deer populations examined for their mitochondrial DNA (mtDNA) HVRI diversity...
  7. pmc Correcting for purifying selection: an improved human mitochondrial molecular clock
    Pedro Soares
    Institute of Integrative and Comparative Biology, Faculty of Biological Sciences, University of Leeds, Leeds, UK
    Am J Hum Genet 84:740-59. 2009
    ..We also present improved rates for the mtDNA control region, and the first comprehensive estimates of positional mutation rates for human mtDNA, which are essential for defining mutation models in phylogenetic analyses...
  8. ncbi Statistical properties of new neutrality tests against population growth
    Sebastian E Ramos-Onsins
    Departament de Genetica, Universitat de Barcelona, E 08071 Barcelona, Spain
    Mol Biol Evol 19:2092-100. 2002
    ..The behavior of the R(2) test is superior for small sample sizes, whereas F(S) is better for large sample sizes. We also show that some popular statistics based on the mismatch distribution are very conservative...
  9. ncbi Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
    R M Andrews
    Nat Genet 23:147. 1999
  10. ncbi The incomplete natural history of mitochondria
    J William O Ballard
    Department of Biological Sciences, University of Iowa, Iowa City, Iowa 52242, USA
    Mol Ecol 13:729-44. 2004
    b>Mitochondrial DNA (mtDNA) has been used to study molecular ecology and phylogeography for 25 years...
  11. pmc Mitochondrial DNA mutations in human disease
    Robert W Taylor
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, NE2 4HH, United Kingdom
    Nat Rev Genet 6:389-402. 2005
    ..Despite the diminutive size of the mitochondrial genome, mitochondrial DNA (mtDNA) mutations are an important cause of inherited disease...
  12. ncbi Premature ageing in mice expressing defective mitochondrial DNA polymerase
    Aleksandra Trifunovic
    Department of Medical Nutrition, Karolinska Institutet, Novum, Karolinska University Hospital, S 141 86 Stockholm, Sweden
    Nature 429:417-23. 2004
    Point mutations and deletions of mitochondrial DNA (mtDNA) accumulate in a variety of tissues during ageing in humans, monkeys and rodents...
  13. pmc Multilocus methods for estimating population sizes, migration rates and divergence time, with applications to the divergence of Drosophila pseudoobscura and D. persimilis
    Jody Hey
    Department of Genetics, Rutgers, State University of New Jersey, Piscataway, New Jersey 08854, USA
    Genetics 167:747-60. 2004
    ..Several loci have nonzero estimates of gene flow since the initial separation of the species, with considerable variation in gene flow estimates among loci, in both directions between the species...
  14. ncbi Distinctive Paleo-Indian migration routes from Beringia marked by two rare mtDNA haplogroups
    Ugo A Perego
    Dipartimento di Genetica e Microbiologia, Universita di Pavia, 27100 Pavia, Italy
    Curr Biol 19:1-8. 2009
    ..Notably, most of the genetic evidence has been acquired from the analysis of the common pan-American mitochondrial DNA (mtDNA) haplogroups...
  15. pmc Biological identifications through DNA barcodes
    Paul D N Hebert
    Department of Zoology, University of Guelph, Guelph, Ontario N1G 2W1, Canada
    Proc Biol Sci 270:313-21. 2003
    ..Its assembly will also generate important new insights into the diversification of life and the rules of molecular evolution...
  16. pmc Identification of Birds through DNA Barcodes
    Paul D N Hebert
    Department of Zoology, University of Guelph, Guelph, Ontario, Canada
    PLoS Biol 2:e312. 2004
    ..The growing evidence for the effectiveness of DNA barcodes as a basis for species identification supports an international exercise that has recently begun to assemble a comprehensive library of COI sequences linked to named specimens...
  17. ncbi Comparative phylogeography and postglacial colonization routes in Europe
    P Taberlet
    Laboratoire de Biologie des populations d Altitude, CNRS UMR 5553, Universite Joseph Fourier, Grenoble, France
    Mol Ecol 7:453-64. 1998
    ..As a consequence, molecular genetics so far appears to be of limited use in dating Quaternary events...
  18. pmc Many species in one: DNA barcoding overestimates the number of species when nuclear mitochondrial pseudogenes are coamplified
    Hojun Song
    Department of Biology, Brigham Young University, Provo, UT 84602, USA
    Proc Natl Acad Sci U S A 105:13486-91. 2008
  19. ncbi Mitochondrial diseases in man and mouse
    D C Wallace
    Center for Molecular Medicine, Emory University, 1462 Clifton Road, Suite 420, Atlanta, GA 30322, USA
    Science 283:1482-8. 1999
    ..The importance and interrelationship of these functions are now being studied in mouse models of mitochondrial disease...
  20. ncbi Mitochondrial DNA as a marker of molecular diversity: a reappraisal
    N Galtier
    Institut des Sciences de l Evolution, Universite Montpellier 2, C N R S UMR 5554, Place E Bataillon, CC 64, 34195 Montpellier, France
    Mol Ecol 18:4541-50. 2009
    Over the last three decades, mitochondrial DNA has been the most popular marker of molecular diversity, for a combination of technical ease-of-use considerations, and supposed biological and evolutionary properties of clonality, near-..
  21. pmc DNA barcoding: error rates based on comprehensive sampling
    Christopher P Meyer
    Florida Museum of Natural History, University of Florida, Gainesville, Florida, USA
    PLoS Biol 3:e422. 2005
    ..However, the use of thresholds does not bode well for delineating closely related species in taxonomically understudied groups. The promise of barcoding will be realized only if based on solid taxonomic foundations...
  22. ncbi Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice
    N G Larsson
    Department of Molecular Medicine, Center for Molecular Medicine L8 02, Stockholm, Sweden
    Nat Genet 18:231-6. 1998
    The regulation of mitochondrial DNA (mtDNA) expression is crucial for mitochondrial biogenesis during development and differentiation...
  23. ncbi Mitochondrial DNA mutations in disease and aging
    Douglas C Wallace
    ORU for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA, USA
    Environ Mol Mutagen 51:440-50. 2010
    The human mitochondrial genome involves over 1,000 genes, dispersed across the maternally inherited mitochondrial DNA (mtDNA) and the biparentally inherited nuclear DNA (nDNA)...
  24. ncbi ROS-generating mitochondrial DNA mutations can regulate tumor cell metastasis
    Kaori Ishikawa
    Graduate School of Life and Environmental Sciences, University of Tsukuba, 1 1 1 Tennodai, Tsukuba, Ibaraki 305 8572, Japan
    Science 320:661-4. 2008
    Mutations in mitochondrial DNA (mtDNA) occur at high frequency in human tumors, but whether these mutations alter tumor cell behavior has been unclear...
  25. ncbi Time dependency of molecular rate estimates and systematic overestimation of recent divergence times
    Simon Y W Ho
    Henry Wellcome Ancient Biomolecules Centre, Department of Zoology, University of Oxford, Oxford, United Kingdom
    Mol Biol Evol 22:1561-8. 2005
  26. pmc Heteroplasmic mitochondrial DNA mutations in normal and tumour cells
    Yiping He
    The Ludwig Center for Cancer Genetics and Therapeutics and The Howard Hughes Medical Institute at The Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland 21231, USA
    Nature 464:610-4. 2010
    The presence of hundreds of copies of mitochondrial DNA (mtDNA) in each human cell poses a challenge for the complete characterization of mtDNA genomes by conventional sequencing technologies...
  27. ncbi Mitochondrial respiratory-chain diseases
    Salvatore DiMauro
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, USA
    N Engl J Med 348:2656-68. 2003
  28. ncbi Transcriptional regulatory circuits controlling mitochondrial biogenesis and function
    Daniel P Kelly
    Center for Cardiovascula Research, Departments of Medicine, Molecular Biology and Pharmacology, and Pediatrics, Washington University School of Medicine, St Louis, Missouri 63119, USA
    Genes Dev 18:357-68. 2004
  29. pmc Pathogenic mitochondrial DNA mutations are common in the general population
    Hannah R Elliott
    Mitochondrial Research Group, Newcastle University, Newcastle upon Tyne, UK
    Am J Hum Genet 83:254-60. 2008
    b>Mitochondrial DNA (mtDNA) mutations are a major cause of genetic disease, but their prevalence in the general population is not known...
  30. ncbi Somatic mitochondrial DNA mutations in mammalian aging
    Nils Goran Larsson
    Max Planck Institute for Biology of Ageing, Cologne D 50931, Germany
    Annu Rev Biochem 79:683-706. 2010
    ..Emerging data instead suggest that the inherent error rate of mitochondrial DNA (mtDNA) polymerase gamma (Pol gamma) may be responsible for the majority of somatic mtDNA mutations...
  31. ncbi DNA replication and transcription in mammalian mitochondria
    Maria Falkenberg
    Division of Metabolic Diseases, Karolinska Institutet, Novum, SE 141 86 Stockholm
    Annu Rev Biochem 76:679-99. 2007
    ..was originally a free-living prokaryotic organism, which explains the presence of a compact mammalian mitochondrial DNA (mtDNA) in contemporary mammalian cells...
  32. ncbi Ancient co-speciation of simian foamy viruses and primates
    William M Switzer
    HIV and Retrovirology Branch, Division of HIV AIDS Prevention, National Center for HIV, STD, and TB Prevention, Centers for Disease Control and Prevention, 1600 Clifton Road, MS G 19, Atlanta, Georgia 30333, USA
    Nature 434:376-80. 2005
    ..These results indicate that SFVs might have co-speciated with Old World primates for at least 30 million years, making them the oldest known vertebrate RNA viruses...
  33. ncbi Rates of nucleotide substitution in angiosperm mitochondrial DNA sequences and dates of divergence between Brassica and other angiosperm lineages
    Y W Yang
    Institute of Botany, Academia Sinica, Taipei, Taiwan 11529
    J Mol Evol 48:597-604. 1999
    ..5-20.4 Myr for the Brassica-Arabidopsis split, and 14.5-20.4 Myr for the Arabidopsis-Arabideae split...
  34. ncbi Mitochondrial retrograde signaling
    Zhengchang Liu
    Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, Texas 75390 9148, USA
    Annu Rev Genet 40:159-85. 2006
    ..Here we review advances in the yeast retrograde signaling pathway and highlight its regulatory factors and regulatory mechanisms, its physiological functions, and its connection to nutrient sensing, TOR signaling, and aging...
  35. ncbi Worldwide phylogeography of wild boar reveals multiple centers of pig domestication
    Greger Larson
    Henry Wellcome Ancient Biomolecules Centre, University of Oxford, Department of Zoology, South Parks Road OX1 3PS, UK
    Science 307:1618-21. 2005
    b>Mitochondrial DNA (mtDNA) sequences from 686 wild and domestic pig specimens place the origin of wild boar in island Southeast Asia (ISEA), where they dispersed across Eurasia...
  36. ncbi Prevalence of mitochondrial DNA disease in adults
    Andrew M Schaefer
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, Newcastle University, Newcastle upon Tyne, United Kingdom
    Ann Neurol 63:35-9. 2008 different medical specialties have all hindered attempts to gauge the epidemiological impact of mitochondrial DNA (mtDNA) disease...
  37. pmc Detecting heteroplasmy from high-throughput sequencing of complete human mitochondrial DNA genomes
    Mingkun Li
    Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, D04103 Leipzig, Germany
    Am J Hum Genet 87:237-49. 2010
    ..With appropriate criteria for avoiding false positives due to sequencing errors, next-generation technologies can provide novel insights into genome-wide aspects of mtDNA heteroplasmy...
  38. ncbi Effects of purifying and adaptive selection on regional variation in human mtDNA
    Eduardo Ruiz-Pesini
    Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA 92697 3940, USA
    Science 303:223-6. 2004
    A phylogenetic analysis of 1125 global human mitochondrial DNA (mtDNA) sequences permitted positioning of all nucleotide substitutions according to their order of occurrence...
  39. pmc Molecular poltergeists: mitochondrial DNA copies (numts) in sequenced nuclear genomes
    Einat Hazkani-Covo
    National Evolutionary Synthesis Center, Durham, North Carolina, USA
    PLoS Genet 6:e1000834. 2010
    The natural transfer of DNA from mitochondria to the nucleus generates nuclear copies of mitochondrial DNA (numts) and is an ongoing evolutionary process, as genome sequences attest...
  40. ncbi Evolution of mitochondrial gene content: gene loss and transfer to the nucleus
    Keith L Adams
    Department of Botany, Iowa State University, 353 Bessey Hall, Ames, IA 50011, USA
    Mol Phylogenet Evol 29:380-95. 2003
    ..Several hypotheses have been proposed for why mitochondrial genes are transferred to the nucleus, why mitochondria retain genomes, and why functional gene transfer is almost exclusively unidirectional...
  41. ncbi Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
    J N Spelbrink
    Institute of Medical Technology and Tampere University Hospital, Tampere, Finland
    Nat Genet 28:223-31. 2001
    The gene products involved in mammalian mitochondrial DNA (mtDNA) maintenance and organization remain largely unknown...
  42. ncbi Mitochondrial DNA content affects the fertilizability of human oocytes
    P Reynier
    INSERM EMI U 00 18, Laboratoire de Biochimie et Biologie Moleculaire, CHU d Angers, F 49033 Angers, pavillon de la mère et de l enfant, CHU de Nantes, B P 1005, F 44093 Nantes cedex 1, France
    Mol Hum Reprod 7:425-9. 2001
    b>Mitochondrial DNA content varies considerably in oocytes, even when collected from the same patient...
  43. pmc The QPCR assay for analysis of mitochondrial DNA damage, repair, and relative copy number
    Senyene E Hunter
    Nicholas School of the Environment, Duke University, Durham, NC 27708 0328, USA
    Methods 51:444-51. 2010
    ..of the QPCR assay, discuss its strengths and limitations, address considerations for measurement of mitochondrial DNA repair, and describe methodological changes implemented in recent years...
  44. ncbi Mitochondrial biogenesis and mitochondrial DNA maintenance of mammalian cells under oxidative stress
    Hsin Chen Lee
    Department of Pharmacology, School of Medicine, National Yang Ming University, Taipei 112, Taiwan, Republic of China
    Int J Biochem Cell Biol 37:822-34. 2005
    Mitochondrial biogenesis and mitochondrial DNA (mtDNA) maintenance depend on coordinated expression of genes in the nucleus and mitochondria...
  45. pmc mtDNA mutations increase tumorigenicity in prostate cancer
    John A Petros
    Department of Urology, Emory University, 1365A Clifton Road, Atlanta, GA 30322, USA
    Proc Natl Acad Sci U S A 102:719-24. 2005
    ..The mutant tumors also generated significantly more ROS. Therefore, mtDNA mutations do play an important role in the etiology of prostate cancer...
  46. ncbi Mitochondrial genome variation and the origin of modern humans
    M Ingman
    Department of Genetics and Pathology, Section of Medical Genetics, University of Uppsala, Sweden
    Nature 408:708-13. 2000
    The analysis of mitochondrial DNA (mtDNA) has been a potent tool in our understanding of human evolution, owing to characteristics such as high copy number, apparent lack of recombination, high substitution rate and maternal mode of ..
  47. ncbi Neighbor-net: an agglomerative method for the construction of phylogenetic networks
    David Bryant
    McGill Centre for Bioinformatics, Montreal, Quebec, Canada
    Mol Biol Evol 21:255-65. 2004
    ..and a collection of 12 Archeal chaperonin sequences demonstrating strong evidence for gene conversion. Neighbor-Net is available as part of the SplitsTree4 software package...
  48. pmc Classification of European mtDNAs from an analysis of three European populations
    A Torroni
    Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Genetics 144:1835-50. 1996
    b>Mitochondrial DNA (mtDNA) sequence variation was examined in Finns, Swedes and Tuscans by PCR amplification and restriction analysis...
  49. pmc Mammalian mitochondrial DNA replication intermediates are essentially duplex but contain extensive tracts of RNA/DNA hybrid
    Jaakko L O Pohjoismäki
    Department of Forensic Medicine and Tampere University Hospital, FI 33014 University of Tampere, Finland
    J Mol Biol 397:1144-55. 2010
    ..electron microscopy and immunopurification with an antibody specific for RNA/DNA hybrid, that intact mitochondrial DNA replication intermediates are essentially duplex throughout their length but contain extensive RNA tracts on ..
  50. ncbi Mobile group II introns
    Alan M Lambowitz
    Institute for Cellular and Molecular Biology, Department of Chemistry and Biochemistry, Section of Molecular Genetics and Microbiology, University of Texas at Austin, Texas 78712, USA
    Annu Rev Genet 38:1-35. 2004
    ..Finally, we describe the development of mobile group II introns into gene-targeting vectors, "targetrons," which have programmable target specificity...
  51. ncbi Life-long reduction in MnSOD activity results in increased DNA damage and higher incidence of cancer but does not accelerate aging
    Holly Van Remmen
    Department of Cellular and Structural Biology at the University of Texas Health Science Center at San Antonio, San Antonio 78229 3900, USA
    Physiol Genomics 16:29-37. 2003
    ..The level of 8oxodG was also higher in mitochondrial DNA isolated from liver and brain in Sod2+/- mice compared with WT mice...
  52. ncbi Viable neutrophils release mitochondrial DNA to form neutrophil extracellular traps
    S Yousefi
    Institute of Pharmacology, University of Bern, CH 3010 Bern, Switzerland
    Cell Death Differ 16:1438-44. 2009
    ..In conclusion, mitochondrial DNA release by neutrophils and NET formation do not require neutrophil death and do also not limit the lifespan ..
  53. pmc Inherited mitochondrial optic neuropathies
    P Yu-Wai-Man
    Mitochondrial Research Group, The Medical School, Newcastle University, Newcastle upon Tyne, UK
    J Med Genet 46:145-58. 2009
    ..Both disorders are the result of mitochondrial dysfunction: LHON from primary mitochondrial DNA (mtDNA) mutations affecting the respiratory chain complexes; and the majority of DOA families have mutations ..
  54. ncbi Sequence-based species delimitation for the DNA taxonomy of undescribed insects
    Joan Pons
    Department of Entomology, The Natural History Museum, London SW7 5BD, United Kingdom
    Syst Biol 55:595-609. 2006
    ..Here, we use mitochondrial DNA variation to delimit species in a poorly known beetle radiation in the genus Rivacindela from arid Australia...
  55. ncbi Partitioned Bayesian analyses, partition choice, and the phylogenetic relationships of scincid lizards
    Matthew C Brandley
    Department of Biology, San Diego State University, San Diego, CA, 92182 4614, USA
    Syst Biol 54:373-90. 2005
    ..Amphiglossus, Chalcides, the acontines Acontias and Typhlosaurus, and Scincinae are paraphyletic. The globally widespread "Eumeces" is polyphyletic and we make necessary taxonomic changes...
  56. ncbi Mitochondrial genomes: anything goes
    Gertraud Burger
    Canadian Institute for Advanced Research, Programme in Evolutionary Biology, Department de Biochimie, Universite de Montreal, 2900 Boulevard Edouard Montpetit, Montreal, Quebec, Canada H3T 1J4
    Trends Genet 19:709-16. 2003
  57. ncbi Use of y chromosome and mitochondrial DNA population structure in tracing human migrations
    Peter A Underhill
    Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305 5120, USA
    Annu Rev Genet 41:539-64. 2007
    ..We introduce new results concerning Y chromosome founder haplogroups C, DE, and F that resolve their previous trifurcation and improve the harmony with the mtDNA recapitulation of the out-of-Africa migration...
  58. ncbi Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
    Alice Bourdon
    Institut National de la Sante et de la Recherche Médicale U781 and Service de Génétique, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
    Nat Genet 39:776-80. 2007
    b>Mitochondrial DNA (mtDNA) depletion syndrome (MDS; MIM 251880) is a prevalent cause of oxidative phosphorylation disorders characterized by a reduction in mtDNA copy number...
  59. ncbi The complete nucleotide sequence and multipartite organization of the tobacco mitochondrial genome: comparative analysis of mitochondrial genomes in higher plants
    Y Sugiyama
    Center for Gene Research, Nagoya University, Chikusa ku, 464 0812 Nagoya, Japan
    Mol Genet Genomics 272:603-15. 2005
    Tobacco is a valuable model system for investigating the origin of mitochondrial DNA (mtDNA) in amphidiploid plants and studying the genetic interaction between mitochondria and chloroplasts in the various functions of the plant cell...
  60. ncbi Genetic evidence for an East Asian origin of domestic dogs
    Peter Savolainen
    Department of Biotechnology, Royal Institute of Technology KTH, 10691 Stockholm, Sweden
    Science 298:1610-3. 2002
    ..To address these questions, we examined the mitochondrial DNA (mtDNA) sequence variation among 654 domestic dogs representing all major dog populations worldwide...
  61. pmc Mitochondrial DNA damage as a potential mechanism for age-related macular degeneration
    Pabalu P Karunadharma
    Department of Ophthalmology, University of Minnesota Twin Cities, Minneapolis, Minnesota 55455, USA
    Invest Ophthalmol Vis Sci 51:5470-9. 2010
    ..RPE) revealed significant changes to mt proteins, suggesting potential functional defects and damage to mitochondrial DNA (mtDNA) with AMD progression...
  62. ncbi Coupled leading- and lagging-strand synthesis of mammalian mitochondrial DNA
    I J Holt
    Department of Molecular Pathology, University of Dundee, Ninewells Medical School, United Kingdom
    Cell 100:515-24. 2000
    ..These findings indicate that two modes of mtDNA replication operate in mammalian cells and that changes in mtDNA copy number involve an alteration in the mode of mtDNA replication...
  63. ncbi Evolutionary implications of non-neutral mitochondrial genetic variation
    Damian K Dowling
    Centre for Evolutionary Biology, School of Animal Biology M092, The University of Western Australia, Crawley, WA 6009, Australia
    Trends Ecol Evol 23:546-54. 2008
    Sequence variation in mitochondrial DNA (mtDNA) was traditionally considered to be selectively neutral. However, an accumulating body of evidence indicates that this assumption is invalid...
  64. ncbi Comparative organization of chloroplast, mitochondrial and nuclear diversity in plant populations
    Remy J Petit
    INRA, UMR Biodiversity, Genes and Ecosystems, 69 route d Arcachon, F 33612 Cestas cedex, France
    Mol Ecol 14:689-701. 2005
    ..We have compiled studies of genetic structure based on chloroplast DNA (cpDNA), mitochondrial DNA (mtDNA) and nuclear markers in seed plants...
  65. ncbi The layered structure of human mitochondrial DNA nucleoids
    Daniel F Bogenhagen
    Department of Pharmacological Sciences, State University of New York at Stony Brook, Stony Brook, New York 11794 8651, USA
    J Biol Chem 283:3665-75. 2008
    b>Mitochondrial DNA (mtDNA) occurs in cells in nucleoids containing several copies of the genome...
  66. ncbi The complete mitochondrial DNA genome of an unknown hominin from southern Siberia
    Johannes Krause
    Max Planck Institute for Evolutionary Anthropology, Deutscher Platz 6, D 04103 Leipzig, Germany
    Nature 464:894-7. 2010
    ..The stratigraphy of the cave where the bone was found suggests that the Denisova hominin lived close in time and space with Neanderthals as well as with modern humans...
  67. ncbi Methylation of 12S rRNA is necessary for in vivo stability of the small subunit of the mammalian mitochondrial ribosome
    Metodi D Metodiev
    Department of Laboratory Medicine, Division of Metabolic Diseases, Karolinska Institutet, Stockholm, Sweden
    Cell Metab 9:386-97. 2009
    ..In addition, we provide a possible explanation for the universal conservation of adenine dimethylation of rRNA by showing a critical role in ribosome maintenance...
  68. pmc Mitochondrial population genomics supports a single pre-Clovis origin with a coastal route for the peopling of the Americas
    Nelson J R Fagundes
    Faculdade de Biociencias, Pontificia Universidade Catolica do Rio Grande do Sul, Porto Alegre, RS, 91619 900, Brazil
    Am J Hum Genet 82:583-92. 2008
    ..Native American populations exhibit almost exclusively five mitochondrial DNA (mtDNA) haplogroups (A-D and X)...
  69. pmc Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background
    Gavin Hudson
    Mitochondrial Research Group, Department of Ophthalmology and Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
    Am J Hum Genet 81:228-33. 2007
    Leber hereditary optic neuropathy (LHON) is due primarily to one of three common point mutations of mitochondrial DNA (mtDNA), but the incomplete penetrance implicates additional genetic or environmental factors in the pathophysiology of ..
  70. pmc Mitochondrial DNA mutations in human colonic crypt stem cells
    Robert W Taylor
    Department of Neurology, The Medical School, University of Newcastle upon Tyne, United Kingdom
    J Clin Invest 112:1351-60. 2003
    ..In recent years it has also become apparent that pathogenic mitochondrial DNA (mtDNA) mutations play an important role in neurological and other diseases...
  71. ncbi Phylogeography of three closely related African bovids (tribe Alcelaphini)
    P Arctander
    Department of Evolutionary Biology, University of Copenhagen, Denmark
    Mol Biol Evol 16:1724-39. 1999
    ..The southern refugium furthermore seems to have been the only place where the wildebeest has survived...
  72. ncbi Evidence for multiple reversals of asymmetric mutational constraints during the evolution of the mitochondrial genome of metazoa, and consequences for phylogenetic inferences
    Alexandre Hassanin
    Museum national d histoire naturelle, Départment Systématique et Evolution, Case Postale, Paris, France
    Syst Biol 54:277-98. 2005
    b>Mitochondrial DNA (mtDNA) sequences are comonly used for inferring phylogenetic relationships...
  73. ncbi Oxidative stress mediates tumor necrosis factor-alpha-induced mitochondrial DNA damage and dysfunction in cardiac myocytes
    Nobuhiro Suematsu
    Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
    Circulation 107:1418-23. 2003
    ..Recently, we demonstrated that increased ROS production was associated with mitochondrial DNA (mtDNA) damage and dysfunction in failing hearts...
  74. pmc Updating phylogeny of mitochondrial DNA macrohaplogroup m in India: dispersal of modern human in South Asian corridor
    Adimoolam Chandrasekar
    Anthropological Survey of India, Southern Regional Centre, Bogadi, Mysore, India
    PLoS ONE 4:e7447. 2009
    ..prehistoric dispersals of modern human being in the Indian sub continent, a diverse subset of 641 complete mitochondrial DNA (mtDNA) genomes belonging to macrohaplogroup M was chosen from a total collection of 2,783 control-region ..
  75. ncbi Mitochondrial evolution
    M W Gray
    Department of Biochemistry, Dalhousie University, Halifax, Nova Scotia B3H 4H7, Canada
    Science 283:1476-81. 1999
  76. ncbi Molecular clocks: when times are a-changin'
    Simon Y W Ho
    Department of Zoology, University of Oxford, Oxford OX1 3PS, UK
    Trends Genet 22:79-83. 2006
    ..We conclude that many studies involving recent divergence events will need to be reconsidered...
  77. ncbi Mitochondrial dysfunction as a cause of optic neuropathies
    Valerio Carelli
    Doheny Eye Institute and Department of Ophthalmology, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA
    Prog Retin Eye Res 23:53-89. 2004
    ..dysfunction is certified by maternal inheritance and association with specific mutations in the mitochondrial DNA (mtDNA)...
  78. ncbi EMPOP--a forensic mtDNA database
    Walther Parson
    Institute of Legal Medicine, Innsbruck Medical University Müllerstreet 44, 6020 Innsbruck, Austria
    Forensic Sci Int Genet 1:88-92. 2007
    b>Mitochondrial DNA databases stand as the basis for frequency estimations of mtDNA sequences that became relevant in a case...
  79. ncbi Big trees from little genomes: mitochondrial gene order as a phylogenetic tool
    J L Boore
    Department of Biology, University of Michigan, 830 North University Avenue, Ann Arbor, MI 48109 1048, USA
    Curr Opin Genet Dev 8:668-74. 1998
    ..Mitochondrial systems serve as a model for larger-scale comparisons of whole organismal genomes and a stimulus for developing methods for reconstructing the patterns of rearrangement...
  80. ncbi Evolution of the mitochondrial genome of Metazoa as exemplified by comparison of congeneric species
    C Gissi
    Dipartimento di Scienze Biomolecolari e Biotecnologie, Universita di Milano, Milano, Italy
    Heredity (Edinb) 101:301-20. 2008
    ..Thus, the analysis of congeneric species promises to be a valuable approach for the assessment of the mtDNA evolutionary trend in poorly or not yet sampled metazoan groups...
  81. ncbi Mitochondrial transcription factor A regulates mtDNA copy number in mammals
    Mats I Ekstrand
    Department of Medical Nutrition, Karolinska Instititutet, Novum, S 141 86 Stockholm, Sweden
    Hum Mol Genet 13:935-44. 2004
    b>Mitochondrial DNA (mtDNA) copy number regulation is altered in several human mtDNA-mutation diseases and it is also important in a variety of normal physiological processes...
  82. ncbi Oxidative stress-induced mitochondrial DNA damage in human retinal pigment epithelial cells: a possible mechanism for RPE aging and age-related macular degeneration
    Fong Qi Liang
    Retina Foundation of the Southwest, Anderson Vision Research Center, 9900 N Central Expressway, Suite 400, Dallas, TX 75231, USA
    Exp Eye Res 76:397-403. 2003
    ..Evidence from a variety of studies suggests that RPE cells are susceptible to oxidative damage. Mitochondrial DNA (mtDNA) is particularly prone to oxidative damage compared to nuclear DNA (nDNA)...
  83. ncbi DNA barcoding will often fail to discover new animal species over broad parameter space
    Michael J Hickerson
    Museum of Vertebrate Zoology, University of California, Berkeley, CA 94720 3160, USA
    Syst Biol 55:729-39. 2006
    With increasing force, genetic divergence of mitochondrial DNA (mtDNA) is being argued as the primary tool for discovery of animal species...
  84. ncbi Mitochondrial DNA under siege in avian phylogeography
    Robert M Zink
    Bell Museum of Natural History, University of Minnesota, St Paul, MN 55108, USA
    Mol Ecol 17:2107-21. 2008
    b>Mitochondrial DNA (mtDNA) has been the workhorse of research in phylogeography for almost two decades. However, concerns with basing evolutionary interpretations on mtDNA results alone have been voiced since the inception of such studies...
  85. ncbi Mitochondrial DNA phylogeny in Eastern and Western Slavs
    B Malyarchuk
    Institute of Biological Problems of the North, Far East Branch of the Russian Academy of Sciences, Magadan, Russia
    Mol Biol Evol 25:1651-8. 2008
    To resolve the phylogeny of certain mitochondrial DNA (mtDNA) haplogroups in eastern Europe and estimate their evolutionary age, a total of 73 samples representing mitochondrial haplogroups U4, HV*, and R1 were selected for complete ..
  86. ncbi Mitochondrial function in normal and diabetic beta-cells
    P Maechler
    Division of Clinical Biochemistry, Department of Internal Medicine, University Medical Centre, 1211 Geneva 4, Switzerland
    Nature 414:807-12. 2001
    ..a rare subform of the disease, is the consequence of pancreatic beta-cell dysfunction caused by mutations in mitochondrial DNA, which is distinct from the nuclear genome...
  87. pmc Mitochondrial substitution rates are extraordinarily elevated and variable in a genus of flowering plants
    Yangrae Cho
    Department of Biology, Indiana University, Bloomington, IN 47405 3700, USA
    Proc Natl Acad Sci U S A 101:17741-6. 2004
  88. ncbi MTERF3 is a negative regulator of mammalian mtDNA transcription
    Chan Bae Park
    Department of Laboratory Medicine, Karolinska Institutet, S 141 86 Stockholm, Sweden
    Cell 130:273-85. 2007
    ..To our knowledge, MTERF3 is the first example of a mitochondrial protein that acts as a specific repressor of mammalian mtDNA transcription initiation in vivo...
  89. ncbi Transcription and replication of mitochondrial DNA
    D A Clayton
    Howard Hughes Medical Institute, Chevy Chase, Maryland 20815 6789, USA
    Hum Reprod 15:11-7. 2000
    The physical isolation of mammalian mitochondrial DNA (mtDNA) over 30 years ago marked the beginning of studies of its structure, replication and the expression of its genetic content...
  90. pmc New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0
    Vanesa Alvarez-Iglesias
    Unidade de Xenetica, Instituto de Medicina Legal and Departamento de Anatomía Patolóxica y Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain
    PLoS ONE 4:e5112. 2009
    R0 embraces the most common mitochondrial DNA (mtDNA) lineage in West Eurasia, namely, haplogroup H (approximately 40%)...
  91. pmc Structural dynamics of cereal mitochondrial genomes as revealed by complete nucleotide sequencing of the wheat mitochondrial genome
    Yasunari Ogihara
    Faculty of Agriculture, Kyoto Prefecture University Sakyo ku, Kyoto 606 8522, Japan
    Nucleic Acids Res 33:6235-50. 2005
    ..About 16, 17, 15, 3.0 and 0.2% of wheat mitochondrial DNA (mtDNA) may be of genic (including introns), open reading frame, repetitive sequence, chloroplast and retro-..
  92. ncbi Sympatric speciation in Nicaraguan crater lake cichlid fish
    Marta Barluenga
    Lehrstuhl fur Zoologie und Evolutionsbiologie, Department of Biology, University of Konstanz, Universitatsstrasse 10, 78457 Konstanz, Germany
    Nature 439:719-23. 2006
    ..Our study includes phylogeographic, population-genetic (based on mitochondrial DNA, microsatellites and amplified fragment length polymorphisms), morphometric and ecological analyses...
  93. pmc The mitochondrial genome of the honeybee Apis mellifera: complete sequence and genome organization
    R H Crozier
    Department of Genetics and Human Variation, La Trobe University, Bundoora, Victoria, Australia
    Genetics 133:97-117. 1993
    The complete sequence of honeybee (Apis mellifera) mitochondrial DNA is reported being 16,343 bp long in the strain sequenced...
  94. ncbi Quantitative PCR-based measurement of nuclear and mitochondrial DNA damage and repair in mammalian cells
    Janine H Santos
    Laboratory of Molecular Genetics, National Institute of Environmental Health Science, NIH, Research Triangle Park, NC, USA
    Methods Mol Biol 314:183-99. 2006
    ..different genotoxins, and has proved particularly valuable in identifying reactive oxygen species-mediated mitochondrial DNA (mtDNA) damage...
  95. ncbi Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging
    G C Kujoth
    Departments of Genetics and Medical Genetics, University of Wisconsin, Madison, WI 53706, USA
    Science 309:481-4. 2005
    Mutations in mitochondrial DNA (mtDNA) accumulate in tissues of mammalian species and have been hypothesized to contribute to aging...
  96. ncbi Regulation of mitochondrial biogenesis in skeletal muscle by CaMK
    Hai Wu
    Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
    Science 296:349-52. 2002
    ..Skeletal muscles from these mice showed augmented mitochondrial DNA replication and mitochondrial biogenesis, up-regulation of mitochondrial enzymes involved in fatty acid ..
  97. ncbi What regulates mitochondrial DNA copy number in animal cells?
    C T Moraes
    Department of Neurology, University of Miami School of Medicine, 1501 NW 9th Avenue, Miami, FL 33136, USA
    Trends Genet 17:199-205. 2001
    The study of the control of mitochondrial DNA copy number spans several decades and has identified many factors involved in the replication of the mitochondrial genome...
  98. ncbi Mitochondrial telomerase reverse transcriptase binds to and protects mitochondrial DNA and function from damage
    Judith Haendeler
    Molecular Cardiology, Department of Internal Medicine III, Centre of Biological Chemistry, University of Frankfurt, Germany
    Arterioscler Thromb Vasc Biol 29:929-35. 2009
    ..Recent studies provided evidence for a mitochondrial localization of TERT. Therefore, we investigated the exact localization of TERT within the mitochondria and its function...
  99. ncbi Did the pleistocene glaciations promote divergence? Tests of explicit refugial models in montane grasshopprers
    L L Knowles
    Department of Ecology and Evolution, State University of New York at Stony Brook, Stony Brook, New York 11794 5245, USA
    Mol Ecol 10:691-701. 2001
    ..Thus, rather than inhibiting differentiation, the glaciations appear to have promoted population divergence in M. oregonensis, suggesting that they may have contributed to the radiation of Melanoplus species during the Pleistocene...
  100. pmc Ancient mtDNA genetic variants modulate mtDNA transcription and replication
    Sarit Suissa
    Department of Life Sciences and National Institute of Biotechnology NIBN, Ben Gurion University of the Negev, Beer Sheva, Israel
    PLoS Genet 5:e1000474. 2009
    Although the functional consequences of mitochondrial DNA (mtDNA) genetic backgrounds (haplotypes, haplogroups) have been demonstrated by both disease association studies and cell culture experiments, it is not clear which of the ..
  101. ncbi Complete mitochondrial DNA replacement in a Lake Tanganyika cichlid fish
    B Nevado
    Department Vertebrates, Royal Belgian Institute of Natural Sciences, 1000 Brussels, Belgium
    Mol Ecol 18:4240-55. 2009
    We used nuclear and mitochondrial DNA (mtDNA) sequences from specimens collected throughout Lake Tanganyika to clarify the evolutionary relationship between Lamprologus callipterus and Neolamprologus fasciatus...

Research Grants74

  1. Genome-wide recombination as a risk factor for nondisjunction
    NATASHA D HOLLIS; Fiscal Year: 2010
    ..student at the University of Alabama-Birmingham where her research examined the effect of ozone exposure on mitochondrial DNA damage and TNFa response in c57 mice...
  2. Mitochondrial dysfunction, oxidative stress, and surgical acute kidney injury
    ..In other preliminary studies, leukocyte mitochondrial DNA (mtDNA) coy number was significantly lower in cardiac surgery patients that developed AKI, intraoperative ..
  3. Impaired mitochondrial fusion in pulmonary arterial hypertension
    Stephen L Archer; Fiscal Year: 2010
    ..Fusion redistributes mitochondrial proteins/genes, protecting the cell from oxidant stress, apoptosis and mitochondrial DNA mutations...
  4. Enhancing radiation and cisplatin HNSCC cell killing by inhibiting mitochondrial
    Lynn Harrison; Fiscal Year: 2013
    ..Both nuclear and mitochondrial DNA repair mechanisms exist, although less is known about mitochondrial repair...
  5. Nanoelectrode arrays for study of the molecular mechanisms, triggers, and inhibit
    Peter J Burke; Fiscal Year: 2012
    ..expression, down regulation of the SOC2 cytochrome c oxidase (complex IV, COX) assembly factor, mutation in mitochondrial DNA (mtDNA) genes, and modulation of the mitochondrial permeability transition pore (mtPTP) and its interaction ..
  6. FASEB SRC on Mitochondrial Assembly &Dynamics in Health, Disease &Aging
    Antoni Barrientos; Fiscal Year: 2011
    ..transcriptional and translational regulatory circuits controlling mitochondrial biogenesis and function, mitochondrial DNA maintenance, mitochondrial-nuclear and mitochondrial-cytoplasm cross talk, mitochondrial protein sorting, ..
  7. Sterile Hepatic Inflammation
    Wajahat Zafar Mehal; Fiscal Year: 2012
    ..1a) Test if ssRNA and nuclear and mitochondrial DNA from healthy, necrotic and apoptotic hepatocytes can up-regulate pro-IL-1b and pro-lL-18 in liver cell ..
  8. A Targeted Preemptive Approach to Addressing Mitochondrial Toxicity of Nucleoside
    John K Buolamwini; Fiscal Year: 2013
    ..NRTIs cause toxicity by inhibiting mitochondrial DNA (mtDNA) synthesis through inhibition of polymerase g (Pol g), which is responsible for mtDNA synthesis...
  9. Alcohol &Antiretrovirals in HIV Infection, Oxidative Stress and Liver Disease
    Marianna K Baum; Fiscal Year: 2012
    ..While these side-effects are multi-factorial, oxidative stress and mitochondrial DNA damage has been suggested to play a key role...
  10. Gene expression responses to air pollution and modification by genetic variation
    Sharine Wittkopp; Fiscal Year: 2013
    ..1 [unreadable]m) localizes to and damages the mitochondria. A recent cross-sectional study showed mitochondrial DNA (mtDNA) copy number was associated with increased PM exposure, indicating mitochondrial damage...
  11. Skeletal Muscle Mitochondrial Adaptations to a Two-Year Caloric Restiction
    STEVEN RICHARD SMITH; Fiscal Year: 2012
    ..As mitochondrial ROS can cause damage to mitochondrial DNA, proteins, and membrane lipids, a self-perpetuating and destructive cycle can ensue in which increased ROS ..
  12. Alcoholic Liver Dysfunction Potentiation by Hyperlipidemia and Cigarette Smoke
    SHANNON MARIE BAILEY; Fiscal Year: 2013
    ..Findings in support of this are: (1) Mitochondrial DNA damage is highest in mice exposed to alcohol and ETS;(2) Alcohol and ETS decrease cytochrome c oxidase ..
  13. Characterizing Mitochondrial DNA Susceptibility to Breast, Colorectal, and Prosta
    Iona Cheng; Fiscal Year: 2012
    ..The goal of this proposal is to identify germline mitochondrial DNA variants that influence the risks of breast, colorectal and prostate cancer among a diverse population of ..
  14. Toll-Like Receptor-Mediated Photoreceptor Mitochondrial DNA Damage
    Narsing A Rao; Fiscal Year: 2010 innate immunity generates similar proinflammatory cytokines as those of adaptive immunity and inflict mitochondrial DNA damage. Such TLRs pathology has been overlooked until recently...
  15. Role of Mitochondrial Aldehyde Dehydrogenases in Ethanol Metabolism and Toxicity
    Vasilis Vasiliou; Fiscal Year: 2010
    ..proteins, lipids and mitochondrial DNA. As a result, the role of acetaldehyde metabolism may be crucial for understanding the pathogenesis of ..
  16. Mitochondrial Roles of the SUV3 in Premature Aging and Cancer
    Wen Hwa Lee; Fiscal Year: 2012
    ..In yeast, inactivation of Suv3 leads to mitochondrial dysfunction and loss of mitochondrial DNA, suggesting that SUV3 is essential for guarding mitochondrial genome stability...
  17. Mechanisms of Asbestos-Induced Alveolar Epithelial Cell Injury
    David W Kamp; Fiscal Year: 2013
    ..Strategies aimed at reducing mitochondrial ROS production and preserving mitochondrial DNA integrity may prove useful in preventing pulmonary fibrosis and/or lung cancer from exposure to various ..
  18. Role of ROS-Induced DNA Damage in Mitochondria-Regulated Apoptosis
    Anne Tann; Fiscal Year: 2012
    ..cause DNA damage, such as mutagenic abasic sites (APS) and their oxidized derivatives (OAS), in nuclear and mitochondrial DNA, which have implications for the induction of cancers, the aging processes, and other pathophysiologies...
  19. Anti-Aging Mitochondrial Protein Therapy for Alzheimer?s Disease and Sarcopenia
    JAMES PEPPER BENNETT; Fiscal Year: 2010
    ..Both are associated with mitochondrial dysfunction. In sarcopenia there is accumulation of mitochondrial DNA (mtDNA) deletions and loss of oxidative capacity in the muscle...
  20. Kinetics of DNA polymerase gamma upon mutation and nucleoside analog exposure
    CHRISTAL DYANE SOHL; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Mitochondrial toxicity can result from altered activity of human mitochondrial DNA polymerase 3 (DNA pol 3), the enzyme responsible for replication of the mitochondrial genome...
  21. Predicting Cognitive Decline in Adults with Down Syndrome
    Ira T Lott; Fiscal Year: 2013
    ..implicating chronic oxidative stress in Down syndrome, we will focus on critical region mutations in mitochondrial DNA with the hypothesis that their number will increase in association with cognitive decline...
  22. Cell Survival and Death in Oxidant Lung Injury
    MICHAEL A O'REILLY; Fiscal Year: 2013
    ..lung disease because elevated levels of oxygen (hyperoxia) suppress mitochondrial respiration and damage mitochondrial DNA. To determine whether cells activate retrograde signaling back to the nucleus to control gene expression in ..
  23. Mitochondrial DNA Repair and Biogenesis
    Raquel R Bartz; Fiscal Year: 2013
    ..The PI will investigate the role of the mitochondrial DNA repair (mDNA) enzyme, OGG1 and nuclear coactivators, PGC-11 and its family members, in mtDNA maintenance and ..
  24. Mitochondrial Gene Therapy
    Shoukhrat M Mitalipov; Fiscal Year: 2013
    ..PUBLIC HEALTH RELEVANCE: Mutations in mitochondrial DNA are associated with a wide range of human diseases, however, there are no cures for mitochondrial disorders ..
    Donald Gilden; Fiscal Year: 2013
    ..project grants focused on neurologic disease produced by neurotropic virus infection, and by somatic or mitochondrial DNA defects;and (e) considerable individual experience of the trainers with postdoctoral fellows as detailed in ..
  26. The Role of Oxidative Stress in the Pathogenesis of Fuchs Endothelial Corneal Dys
    Ula V Jurkunas; Fiscal Year: 2013
    ..overexpression of extracellular and stress-related proteins, and an increase in the levels of oxidized mitochondrial DNA in FECD endothelium...
  27. mt-Nd2 and Resistance to Autoimmune Diabetes
    Clayton E Mathews; Fiscal Year: 2013
    ..In this context, reports of mitochondrial DNA (mtDNA) mutations associated with diabetes (T2D) pedigrees in humans account for up to 1% of human T2D...
  28. An Integrated Study of Mitochondrial Pathways in Colorectal Cancer
    Bharat Thyagarajan; Fiscal Year: 2013
    ..Indicators of mitochondrial dysfunction include mitochondrial DNA copy number, mitochondria DNA damage as measured by quantitative real time polymerase chain reaction and ..
  29. Tumorigenic role of mitochondria in African-American women
    Keshav K Singh; Fiscal Year: 2011
    ..Of the 86 subunits that make up the mitochondrial OXPHOS system, mitochondrial DNA (mtDNA) encodes 13 subunits. The rest are encoded by nuclear DNA (nDNA)...
  30. Preventive of Bile Acid-Induced Colonic Oxidative DNA Damage
    Claire Margaret Payne; Fiscal Year: 2010 be tested is: the prevention of DOC-induced oxidative/nitrosative stress will reduce nuclear and mitochondrial DNA (mtDNA) damage and decrease colon tumorigenesis...
  31. Diagnostic Utility of mtDNA Content and Exercise Challenge in Veterans with GWI
    MICHAEL JOSEPH FALVO; Fiscal Year: 2013
    ..Additionally, mitochondrial DNA (mtDNA) damage is positively associated with exposure to particulate matter, benzene, and polycyclic ..
  32. Iron and Mitochondrial Genomics in Neuro-inflammation and HAND: A CHARTER Study
    Asha R Kallianpur; Fiscal Year: 2013
    ..Coordinated studies of variants in nuclear DNA (nDNA) and the distinct mitochondrial DNA (mtDNA) genome that influence iron metabolism and mitochondrial OXPHOS may significantly advance ..
    Larry Simpson; Fiscal Year: 2013
    ..Editing modifies the sequences of 12 of 16 mitochondrial mRNAs transcribed from mitochondrial DNA "cryptogenes" by insertion and deletion of uridines at specific sites to render them translatable...
  34. Metabolism and toxicity of NRTIs in non-replicating tissues
    Edward E McKee; Fiscal Year: 2013
    ..Two mechanisms of toxicity have been proposed. The analog triphosphates inhibit the mitochondrial DNA polymerase leading to mtDNA depletion;or for at least one NRTI, AZT, toxicity may be caused by the ..
  35. Exercise Induced Biochemical and Anatomical Adaptations
    John O Holloszy; Fiscal Year: 2013
    ..respiratory chain proteins as well as mitochondrial transcription factor A mt(TFA), which activates mitochondrial DNA transcription and replication...
  36. Sorbents for Toxic-Metal Removal in Pharmaceutical Development and Manufacture
    GIRISH SRINIVAS; Fiscal Year: 2013
    ..agents, cis- platin, carboplatin and their cis-palladium analogues which bind strongly to both nuclear and mitochondrial DNA, block transcription of critical neural enzymes and bind to active sites of enzymes that are critical for ..
  37. mt-Nd2 and Resistance to Autoimmune Diabetes
    Clayton E Mathews; Fiscal Year: 2011
    ..In this context, reports of mitochondrial DNA (mtDNA) mutations associated with diabetes (T2D) pedigrees in humans account for up to 1% of human T2D...
  38. Mitochondrial biogenesis in sepsis-induced organ dysfunction
    Karen E Welty-Wolf; Fiscal Year: 2012
    ..Our preliminary data show that mitochondrial DNA (mtDNA) injury and biogenesis are an intrinsic part of the host response to severe infection...
  39. Impact of Exercise on Sarcopenia
    Judd M Aiken; Fiscal Year: 2013
    ..Our studies have demonstrated that mitochondrial DNA (mtDNA) abnormalities play a causal role in muscle fiber loss...
  40. Mitochondrial Determinants of Metabolic Disease in HIV-Infected Children
    Tracie L Miller; Fiscal Year: 2013
    ..delineate mechanisms of mitochondrial dysfunction by quantitating and comparing mitochondrial DNA copies per cell, mitochondrial RNA transcripts, and mitochondrial oxidative stress in the HIV-infected ..
  41. Molecular and Epigenetic Mitochondriomics of Air Particles, Lead and Cognition
    Andrea Baccarelli; Fiscal Year: 2013
    ..We will use state-of-art blood-based analyses of 1) mitochondrial DNA (mtDNA) damage and aging by means of a panel of complementary markers of oxidative damage, heteroplasmy and ..
  42. Modification of AdenoAssociated Virus to deliver DNA directly to Mitochondria
    John Guy; Fiscal Year: 2011
    Mutations in mitochondrial DNA lead to a spectrum of neurodegenerative diseases for which no treatment exists. Almost all of them involve ocular structures that include the optic nerve, retina, extraocular muscles or eyelids...
  43. Interaction Between DNA Repair and Antioxidant Genes During Aging
    Carlos A Torres Ramos; Fiscal Year: 2010
    ..SOD2 genes, and if levels of mtDNA lesions correlate with mitochondrial dysfunction;(3) To determine whether mitochondrial DNA damage increases in an age-dependent fashion in a BER deficient mouse model...
  44. Leber Hereditary Optic Neuropathy: Gene Therapy Trial
    John Guy; Fiscal Year: 2012
    Our understanding of human diseases caused by mutated mitochondrial DNA has recently evolved dramatically...
    Glenn Wilson; Fiscal Year: 2012
    ..During this time, we have made novel discoveries in the area of mitochondrial DNA damage and repair and how these processes play an important role in the pathogenesis of disease...
  46. Ribonucleotide Reductase: Structure and Function
    JoAnne Stubbe; Fiscal Year: 2013
    ..Humans have two RNRs: ?/?, involved in DNA replication, and ?/?', involved in DNA repair and mitochondrial DNA replication...
    Dan S Ray; Fiscal Year: 2013
    ..This research aims to understand the molecular mechanisms involved in regulating replication of the mitochondrial DNA of African trypanosomes...
    Shey Shing Sheu; Fiscal Year: 2010
    ..Recent studies of diseases caused by either mitochondrial DNA mutations or mitochondrial dysfunction all suggest that Ca2+ deregulation is most critical...
  49. Mitochondrial DNA repair agents for acute lung injury
    Mark N Gillespie; Fiscal Year: 2012
    ..Herein we will test a new concept - that repair of oxidative mtDNA damage directs cell fate decisions in ALI - which, if valid, will point to an entirely new pharmacologic strategy for treating ALI and related disorders. ..
  50. ROS sensing and signaling in lifespan regulation
    Elizabeth A Schroeder; Fiscal Year: 2013
    ..Additionally, this aim will investigate if mROS activates the DDR via damage to mitochondrial DNA (mtDNA) using assays for mtDNA mutation at early time-points following mROS induction...
    DAN RAY; Fiscal Year: 2009
    ..that regulate S-phase gene expression in Trypanosoma brucei? and (2) How is the expression of a specific mitochondrial DNA ligase regulated during the cell cycle and how does its expression contribute to kinetoplast structure and ..
  52. History of Alzheimer predisposes children to amyloid beta-related hypometabolism
    Lisa Mosconi; Fiscal Year: 2013
    ..The fact that mitochondrial DNA is exclusively maternally inherited in humans lends support to this hypothesis...
  53. Mitochondrial aconitase: Fe-S cluster biogenesis and interaction with mtDNA
    Debkumar Pain; Fiscal Year: 2012
    ..Aco1p is essential for mitochondrial DNA (mtDNA) stability, and this activity is independent of its enzymatic activity in the TCA cycle...
  54. Humanin and Type 2 Diabetes
    JILL P CRANDALL; Fiscal Year: 2012
    ..our experimental research on a novel and promising biomarker, humanin, a mitochondrial peptide encoded by mitochondrial DNA that has been previously shown to protect neurons from damage caused by Alzheimer's disease related ..
  55. Dissecting the role of mitochondrial DNA mutations in cancer
    Sean David Taylor; Fiscal Year: 2013
    ..normal human fibroblast cells to a variety of mitochondrial mutagenic agents, reversibly depleting the mitochondrial DNA, and isolating subsequent clones harboring clonally expanded mutations...
  56. Dendritic Cell Activation by Mitochondrial Transcription Factor A
    Elliott D Crouser; Fiscal Year: 2010
    ..In particular, unmethylated (CpG) mitochondrial DNA when combined with its usual binding partner, mitochondrial transcription factor A (TFAM), is shown to ..
  57. Identification of novel molecular mechanisms that stabilize the mitochondrial gen
    MARTA ADELAIDA PIVA; Fiscal Year: 2012
    ..of the ETC will lead to a non-respiratory phenotype and more importantly, to the irreversible loss of mitochondrial DNA (mtDNA)...
  58. Mitochondrial DNA and Prostate Cancer in African American
    Keshav K Singh; Fiscal Year: 2013
    ..Our preliminary data suggest that mutations in nuclear gene encoding mitochondrial DNA polymerase gamma (POLG1) induce depletion of mtDNA and increase tumorigenic potential of cancer cells in ..
  59. Aging and the unstable epigenome
    Gerd P Pfeifer; Fiscal Year: 2013
    ..Among the most popular ones are accumulation of nuclear and mitochondrial DNA damage and mutations, damage to macromolecules induced by oxidative stress and other intrinsic chemical ..
  60. Molecular Pathogenesis and Treatment of MNGIE
    Michio Hirano; Fiscal Year: 2013
    ..dysmotility leading to cachexia, peripheral neuropathy, leukoencephalopathy, and alterations of mitochondrial DNA (mtDNA). Most patients die by age 40...
  61. Mitochondrial associated CVD susceptibility in humans and mice
    Scott W Ballinger; Fiscal Year: 2010
    ..respect, none of the current studies has considered the potential role of the "other" eukaryotic genome, the mitochondrial DNA (mtDNA), or the mitochondrion, and the possibility that prehistoric selection factors that influenced mtDNA ..
  62. Immunity in alcoholic hepatitis.
    Zhang Xu Liu; Fiscal Year: 2013
    ..The plasma levels of DAMP molecules (HMGB1, Mitochondrial DNA, S100A8/S100A9 and cytokeratin-18) in control groups and AH patients will be examined...
  63. mtDNA mutation/heteroplasmy: a sensitive functional biomarker of oxidative stress
    Bruce N Ames; Fiscal Year: 2010
    ..We also propose that mitochondrial DNA (mtDNA) mutation leading to heteroplasmy is likely to be an ultra sensitive sentinel biomarker of oxidative ..
  64. Mitochondrial Toxicity of Antiviral Nucleosides
    Edward E McKee; Fiscal Year: 2010 antiretroviral therapy (HAART) are associated with a variety of tissue toxicities associated with mitochondrial DNA depletion, suggesting a block in mt-DNA replication...
  65. Nuclear modifier genes for maternally inherited deafness
    Min Xin Guan; Fiscal Year: 2010
    ..the role of the nuclear modifier genes in the phenotypic expression of hearing impairment associated with mitochondrial DNA mutations and is to explore a therapeutic intervention for maternally inherited disorders...
  66. Broad spectrum therapeutics targeting resolvase enzymes
    Frederic D Bushman; Fiscal Year: 2010 Coccidioldes, the causative Coccidioides, Fever, where agent of Valley Fever, where it is involved in mitochondrial DNA replication. In involved in mitochondrial DNA replication...
    Richard Boles; Fiscal Year: 2002
    ..Several features of CVS, including a maternal bias in inheritance, suggest that mitochondrial DNA (mtDNA) sequence variations/mutations may be involved in its etiology...
  68. A New Toxicity Screen to Assess Mitochondrial DNA Content and Protein Synthesis
    ROSS JOHN WHITTAKER; Fiscal Year: 2010
    ..and reactive oxygen species generation, there are few assays that can assess more long term effects such as mitochondrial DNA (mtDNA) depletion and inhibition of mitochondrial protein synthesis...
    ANTHONY JOHN WINDEBANK; Fiscal Year: 2010
    ..platinum compounds produce neuronal injury by a common mechanism that involves separate nuclear (n-DNA) and mitochondrial DNA (mt-DNA) binding followed by synergistic activation of parallel death pathways...
    Tuan Vu; Fiscal Year: 2000
    Recently, a new form of mitochondrial DNA (mtDNA) abnormality, mtDNA depletion, has been reported in several children. Clinically, the syndrome of mtDNA depletion is heterogeneous...
    Elizabeth Keithley; Fiscal Year: 1999
    ..examine archival and fresh human temporal bones as well as brains to examine and characterize age-related mitochondrial DNA mutations and correlate these with changes in proteins related to the mitochondrial function of oxidative ..
    BRENT NIELSEN; Fiscal Year: 1993
    The long-term objective of this project is to understand and characterize the mechanism of mitochondrial DNA replication in Brassica campestris, a higher plant...
  73. Mitochondrial Genome Replacement Therapy (MGRT)
    Shaharyar Khan; Fiscal Year: 2009
    ..Gencia has developed Protofection(tm), a technology capable of delivering full-length mitochondrial DNA in vitro and in vivo, as well as a cloning method capable of producing full- length human mitochondrial DNA ..
  74. A Sequencing Microarray for Mitochondrial Mutations
    Anirban Maitra; Fiscal Year: 2004
    ..Somatic mitochondrial DNA mutations are common in cancers, but their usefulness as a biomarker for early diagnosis has been impeded by ..