Genome Digging: Insight into the Mitochondrial Genome of Homo
Publication Date
December 09, 2010
Journal
PLOS ONE
Authors
Igor V. Ovchinnikov & Olga I. Kholina
Volume
5
Issue
12
Pages
e14278
DOI
https://dx.plos.org/10.1371/journal.pone.0014278
Publisher URL
http://journals.plos.org/plosone/article?id=10.1371%2Fjournal.pone.0014278
Scopus
78650117783
Mendeley
http://www.mendeley.com/research/genome-digging-insight-mitochondrial-genome-homo
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Mendeley | Further Information

{"title"=>"Genome Digging: Insight into the Mitochondrial Genome of Homo", "type"=>"journal", "authors"=>[{"first_name"=>"Igor V.", "last_name"=>"Ovchinnikov", "scopus_author_id"=>"7102605751"}, {"first_name"=>"Olga I.", "last_name"=>"Kholina", "scopus_author_id"=>"36675232700"}], "year"=>2010, "source"=>"PLoS ONE", "identifiers"=>{"pmid"=>"21151557", "isbn"=>"1932-6203 (Electronic)\\r1932-6203 (Linking)", "doi"=>"10.1371/journal.pone.0014278", "issn"=>"19326203", "scopus"=>"2-s2.0-78650117783", "pui"=>"360158341", "sgr"=>"78650117783"}, "id"=>"dd8043aa-9f3c-3c96-a1b2-984c13e3a034", "abstract"=>"BACKGROUND: A fraction of the Neanderthal mitochondrial genome sequence has a similarity with a 5,839-bp nuclear DNA sequence of mitochondrial origin (numt) on the human chromosome 1. This fact has never been interpreted. Although this phenomenon may be attributed to contamination and mosaic assembly of Neanderthal mtDNA from short sequencing reads, we explain the mysterious similarity by integration of this numt (mtAncestor-1) into the nuclear genome of the common ancestor of Neanderthals and modern humans not long before their reproductive split. PRINCIPAL FINDINGS: Exploiting bioinformatics, we uncovered an additional numt (mtAncestor-2) with a high similarity to the Neanderthal mtDNA and indicated that both numts represent almost identical replicas of the mtDNA sequences ancestral to the mitochondrial genomes of Neanderthals and modern humans. In the proteins, encoded by mtDNA, the majority of amino acids distinguishing chimpanzees from humans and Neanderthals were acquired by the ancestral hominins. The overall rate of nonsynonymous evolution in Neanderthal mitochondrial protein-coding genes is not higher than in other lineages. The model incorporating the ancestral hominin mtDNA sequences estimates the average divergence age of the mtDNAs of Neanderthals and modern humans to be 450,000-485,000 years. The mtAncestor-1 and mtAncestor-2 sequences were incorporated into the nuclear genome approximately 620,000 years and 2,885,000 years ago, respectively. CONCLUSIONS: This study provides the first insight into the evolution of the mitochondrial DNA in hominins ancestral to Neanderthals and humans. We hypothesize that mtAncestor-1 and mtAncestor-2 are likely to be molecular fossils of the mtDNAs of Homo heidelbergensis and a stem Homo lineage. The d(N)/d(S) dynamics suggests that the effective population size of extinct hominins was low. However, the hominin lineage ancestral to humans, Neanderthals and H. heidelbergensis, had a larger effective population size and possessed genetic diversity comparable with those of chimpanzee and gorilla.", "link"=>"http://www.mendeley.com/research/genome-digging-insight-mitochondrial-genome-homo", "reader_count"=>48, "reader_count_by_academic_status"=>{"Professor > Associate Professor"=>2, "Researcher"=>9, "Student > Doctoral Student"=>4, "Student > Ph. D. Student"=>13, "Student > Master"=>8, "Other"=>2, "Student > Bachelor"=>3, "Lecturer"=>1, "Professor"=>6}, "reader_count_by_user_role"=>{"Professor > Associate Professor"=>2, "Researcher"=>9, "Student > Doctoral Student"=>4, "Student > Ph. D. Student"=>13, "Student > Master"=>8, "Other"=>2, "Student > Bachelor"=>3, "Lecturer"=>1, "Professor"=>6}, "reader_count_by_subject_area"=>{"Unspecified"=>1, "Engineering"=>2, "Environmental Science"=>2, "Biochemistry, Genetics and Molecular Biology"=>3, "Agricultural and Biological Sciences"=>24, "Medicine and Dentistry"=>1, "Arts and Humanities"=>9, "Psychology"=>2, "Social Sciences"=>3, "Economics, Econometrics and Finance"=>1}, "reader_count_by_subdiscipline"=>{"Engineering"=>{"Engineering"=>2}, "Medicine and Dentistry"=>{"Medicine and Dentistry"=>1}, "Social Sciences"=>{"Social Sciences"=>3}, "Psychology"=>{"Psychology"=>2}, "Economics, Econometrics and Finance"=>{"Economics, Econometrics and Finance"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>24}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>3}, "Unspecified"=>{"Unspecified"=>1}, "Environmental Science"=>{"Environmental Science"=>2}, "Arts and Humanities"=>{"Arts and Humanities"=>9}}, "reader_count_by_country"=>{"Netherlands"=>1, "Australia"=>1, "Portugal"=>1, "Germany"=>1}, "group_count"=>1}

Scopus | Further Information

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