title: Heteroplasmic substitutions in the entire mitochondrial genomes of human colon cells detected by ultra-deep 454 sequencing.
abstract: Mitochondrial DNA (mtDNA) heteroplasmy has been widely described from clinical, evolutionary and analytical points of view. Historically, the majority of studies have been based on Sanger sequencing. However, next-generation sequencing technologies are now being used for heteroplasmy analysis. Ultra-deep sequencing approaches provide increased sensitivity for detecting minority variants. However, a phylogenetic a posteriori analysis revealed that most of the next-generation sequencing data published to date suffers from shortcomings. Because implementation of new technologies in clinical, population, or forensic studies requires proper verification, in this paper we present a direct comparison of ultra-deep 454 and Sanger sequencing for the detection of heteroplasmy in complete mitochondrial genomes of normal colon cells. The spectrum of heteroplasmic mutations is discussed against the background of mitochondrial DNA variability in human populations.
authors.affiliation: Department of Molecular and Forensic Genetics, Institute of Forensic Medicine, Ludwik Rydygier Collegium Medicum, Nicolaus Copernicus University, 9 Sklodowskiej-Curie Street, 85-094 Bydgoszcz, Poland.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Skonieczna
authors.affiliation: Institute of Biological Problems of the North, Far-East Branch of the Russian Academy of Sciences, 18 Portovaya Street, 685000 Magadan, Russia.
authors.forename: Boris
authors.initials: B
authors.lastname: Malyarchuk
authors.affiliation: Department of Vascular Surgery and Angiology, Ludwik Rydygier Collegium Medicum, Nicolaus Copernicus University, 9 Sklodowskiej-Curie Street, 85-094 Bydgoszcz, Poland.
authors.forename: Arkadiusz
authors.initials: A
authors.lastname: Jawień
authors.affiliation: Department of Clinical Pathomorphology, Ludwik Rydygier Collegium Medicum, Nicolaus Copernicus University, 9 Sklodowskiej-Curie Street, 85-094 Bydgoszcz, Poland.
authors.forename: Andrzej
authors.initials: A
authors.lastname: Marszałek
authors.affiliation: Department of Vascular Surgery and Angiology, Ludwik Rydygier Collegium Medicum, Nicolaus Copernicus University, 9 Sklodowskiej-Curie Street, 85-094 Bydgoszcz, Poland.
authors.forename: Zbigniew
authors.initials: Z
authors.lastname: Banaszkiewicz
authors.affiliation: Department of Vascular Surgery and Angiology, Ludwik Rydygier Collegium Medicum, Nicolaus Copernicus University, 9 Sklodowskiej-Curie Street, 85-094 Bydgoszcz, Poland.
authors.forename: Paweł
authors.initials: P
authors.lastname: Jarmocik
authors.affiliation: Interdisciplinary Centre for Mathematical and Computational Modelling, University of Warsaw, 5a Pawinskiego Street, 02-106 Warsaw, Poland.
authors.forename: Marcelina
authors.initials: M
authors.lastname: Borcz
authors.affiliation: Interdisciplinary Centre for Mathematical and Computational Modelling, University of Warsaw, 5a Pawinskiego Street, 02-106 Warsaw, Poland.
authors.forename: Piotr
authors.initials: P
authors.lastname: Bała
authors.affiliation: Department of Molecular and Forensic Genetics, Institute of Forensic Medicine, Ludwik Rydygier Collegium Medicum, Nicolaus Copernicus University, 9 Sklodowskiej-Curie Street, 85-094 Bydgoszcz, Poland. Electronic address: tgrzyb@cm.umk.pl.
authors.forename: Tomasz
authors.initials: T
authors.lastname: Grzybowski
mesh_terms: D003106:Colon / Q000166:cytology / Q000378:metabolism*; D004272:DNA, Mitochondrial / Q000235:genetics*; D054629:Genome, Mitochondrial; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D010802:Phylogeny
chemical_list: D004272:DNA, Mitochondrial
keywords: 454 Sequencing; Haplogroup; Heteroplasmy; Low-level variants; Mitochondrial genome; Phylogeny