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      Species identification through mitochondrial rRNA genetic analysis

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          Abstract

          Inter-species and intraspecific variations in mitochondrial DNA (mtDNA) were observed in a bioinformatics analysis of the mitochondrial genomic sequences of 11 animal species. Some highly conserved regions were identified in the mitochondrial 12S and 16S ribosomal RNA (rRNA) genes of these species. To test whether these sequences are universally conserved, primers were designed to target the conserved regions of these two genes and were used to amplify DNA from 21 animal tissues, including two of unknown origin. By sequencing these PCR amplicons and aligning the sequences to a database of non-redundant nucleotide sequences, it was confirmed that these amplicons aligned specifically to mtDNA sequences from the expected species of origin. This molecular technique, when combined with bioinformatics, provides a reliable method for the taxonomic classification of animal tissues.

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          Mitochondrial diseases in man and mouse.

          D C Wallace (1999)
          Over the past 10 years, mitochondrial defects have been implicated in a wide variety of degenerative diseases, aging, and cancer. Studies on patients with these diseases have revealed much about the complexities of mitochondrial genetics, which involves an interplay between mutations in the mitochondrial and nuclear genomes. However, the pathophysiology of mitochondrial diseases has remained perplexing. The essential role of mitochondrial oxidative phosphorylation in cellular energy production, the generation of reactive oxygen species, and the initiation of apoptosis has suggested a number of novel mechanisms for mitochondrial pathology. The importance and interrelationship of these functions are now being studied in mouse models of mitochondrial disease.
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            Dynamics of mitochondrial DNA evolution in animals: amplification and sequencing with conserved primers.

            T Kocher, W. K. Thomas, A. Meyer … (1989)
            With a standard set of primers directed toward conserved regions, we have used the polymerase chain reaction to amplify homologous segments of mtDNA from more than 100 animal species, including mammals, birds, amphibians, fishes, and some invertebrates. Amplification and direct sequencing were possible using unpurified mtDNA from nanogram samples of fresh specimens and microgram amounts of tissues preserved for months in alcohol or decades in the dry state. The bird and fish sequences evolve with the same strong bias toward transitions that holds for mammals. However, because the light strand of birds is deficient in thymine, thymine to cytosine transitions are less common than in other taxa. Amino acid replacement in a segment of the cytochrome b gene is faster in mammals and birds than in fishes and the pattern of replacements fits the structural hypothesis for cytochrome b. The unexpectedly wide taxonomic utility of these primers offers opportunities for phylogenetic and population research.
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              Maternal inheritance of human mitochondrial DNA.

              R. GILES, H Blanc, H. M. Cann … (1980)
              Human mitochondrial DNA was obtained from peripheral blood platelets donated by the members of several independent families. The samples were screened for nucleotide sequence polymorphisms between individuals within these families. In each family in which we were able to detect a distinctly different restriction endonuclease cleavage pattern between the parents, the progeny exhibited the maternal cleavage pattern. Informative polymorphisms were detected for Hae II (PuGCGCPy) in a three-generation family composed of 33 members, for HincII (GTPyPuAC) in a two-generation family composed of four members, and for Hae III(GGCC) in a two-generation family composed of four members. The Hae II polymorphism was analyzed through all three generations in both the maternal and paternal lines. The results of this study demonstrate that human mitochondrial DNA is maternally inherited. The techniques described for using peripheral blood platelets as a source of human mitochondrial DNA represent a convenient way to obtain data on mitochondrial DNA variation in both individuals and populations.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Sci Rep
                Journal ID (iso-abbrev): Sci Rep
                Title: Scientific Reports
                Publisher: Nature Publishing Group
                ISSN (Electronic): 2045-2322
                Publication date (Electronic): 13 February 2014
                Publication date Collection: 2014
                Volume: 4
                Electronic Location Identifier: 4089
                Affiliations
                [1 ]Division of Human Genetics, Cincinnati Children's Hospital Medical Center , 3333 Burnet Avenue, Cincinnati, OH 45229
                [2 ]Department of Molecular & Cellular Physiology, College of Medicine, University of Cincinnati , 231 Albert Sabin Way, Cincinnati, OH 45267
                [3 ]Center for Molecular and Human Genetics, Research Institute at Nationwide Children's Hospital , 700 Childrens Drive, Columbus, OH 43205
                [4 ]Attardi Institute of Mitochondrial Biomedicine, Wenzhou Medical College , Wenzhou, Zhejiang, China
                [5 ]College of Life Sciences, Zhejiang University , Hangzhou, Zhejiang 310058, China
                [6 ]Department of Pediatrics, University of Cincinnati College of Medicine , Cincinnati, OH 45229
                Author notes
                Article
                Publisher Item ID: srep04089
                DOI: 10.1038/srep04089
                PMC ID: 5379257
                PubMed ID: 24522485
                SO-VID: dab5abd7-e043-4d29-ba8c-171a9fb156ec
                Copyright © Copyright © 2014, Macmillan Publishers Limited. All rights reserved
                License:

                This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/3.0/

                History
                Date received : 25 July 2013
                Date accepted : 27 January 2014
                Categories
                Subject: Article

                ScienceOpen disciplines: Uncategorized
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                ScienceOpen disciplines: Uncategorized

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