title: Structure and chromosomal distribution of human mitochondrial pseudogenes.
abstract: Nuclear mitochondrial pseudogenes (Numts) have been found in the genome of many eukaryote species, including humans. Using a BLAST approach, we found 1105 DNA sequences homologous to mitochondrial DNA (mtDNA) in the August 2001 Goldenpath human genome database. We assembled these sequences manually into 286 pseudogenes on the basis of single insertion events and constructed a chromosomal map of these Numts. Some pseudogenes appeared highly modified, containing inversions, deletions, duplications, and displaced sequences. In the case of four randomly selected Numts, we used PCR tests on cells lacking mtDNA to ensure that our technique was free from genome-sequencing artifacts. Furthermore, phylogenetic investigation suggested that one Numt, apparently inserted into the nuclear genome 25-30 million years ago, had been duplicated at least 10 times in various chromosomes during the course of evolution. Thus, these pseudogenes should be very useful in the study of ancient mtDNA and nuclear genome evolution.
authors.affiliation: INSERM EMI-U 00-18, Laboratoire de Biochimie et Biologie Moléculaire, CHU d'Angers, Angers, F-49033, France. yvtourmen@chu-angers.fr
authors.forename: Yves
authors.initials: Y
authors.lastname: Tourmen
authors.forename: Olivier
authors.initials: O
authors.lastname: Baris
authors.forename: Philippe
authors.initials: P
authors.lastname: Dessen
authors.forename: Caroline
authors.initials: C
authors.lastname: Jacques
authors.forename: Yves
authors.initials: Y
authors.lastname: Malthièry
authors.forename: Pascal
authors.initials: P
authors.lastname: Reynier
mesh_terms: D002874:Chromosome Mapping; D030541:Databases, Genetic; D019143:Evolution, Molecular; D015894:Genome, Human; D006801:Humans; D008928:Mitochondria / Q000235:genetics*; D010802:Phylogeny; D016133:Polymerase Chain Reaction; D011544:Pseudogenes; D017422:Sequence Analysis, DNA