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Classification of European mtDNAs From an Analysis of Three European Populations

Bibliographic Data

ID23323980
AuthorsAntonio Torroni (0000-0002-4163-4478, Emory University), Kirsi Huoponen (Emory University), Paolo Francalacci (0000-0001-7912-162X, University of Sassari), Maurizio Petrozzi (Dipartimento di Genetica e Biologia Molecolare, Universita' di Roma “La Sapienza,” 00185 Rome, Italy), Laura Morelli (0000-0001-5759-1807, University of Sassari), Rosaria Scozzari (Istituto di Genetica Molecolare), Domenica Obinu (University of Sassari), Marja-Liisa Savontaus (University of Turku), Marja‐liisa Savontaus (University of Turku), Douglas C Wallace (0000-0002-7480-8278, Emory University)
Year1996
Volume144
Issue4
Pages1835-1850
Publication date1996-12-01
Peer ReviewedYes
Open AccessYes
TypeARTICLE
VenueGenetics (JOURNAL)
Journal identifiersISSN: 0016-6731 • E-ISSN: 1943-2631
PublisherOxford University Press (OUP) (PUBLISHER)
DOI10.1093/genetics/144.4.1835
PMID8978068
OpenAlexW2095915630
LanguageEN
Citations received87
References cited11

Mitochondrial DNA (mtDNA) sequence variation was examined in Finns, Swedes and Tuscans by PCR amplification and restriction analysis. About 99% of the mtDNAs were subsumed within 10 mtDNA haplogroups (H, I, J, K, M, T, U, V, W, and X) suggesting that the identified haplogroups could encompass virtually all European mtDNAs. Because both hypervariable segments of the mtDNA control region were previously sequenced in the Tuscan samples, the mtDNA haplogroups and control region sequences could be compared. Using a combination of haplogroup-specific restriction site changes and control region nucleotide substitutions, the distribution of the haplogroups was surveyed through the published restriction site polymorphism and control region sequence data of Caucasoids. This supported the conclusion that most haplogroups observed in Europe are Caucasoid-specific, and that at least some of them occur at varying frequencies in different Caucasoid populations. The classification of almost all European mtDNA variation in a number of well defined haplogroups could provide additional insights about the origin and relationships of Caucasoid populations and the process of human colonization of Europe, and is valuable for the definition of the role played by mtDNA backgrounds in the expression of pathological mtDNA mutations

Allele · Biology · Clade · Evolutionary biology · Gene · Haplogroup · Haplotype · Human mitochondrial DNA haplogroup · Human mitochondrial genetics · Hypervariable region · Mitochondrial DNA · mtDNA control region · Phylogenetics · Sequence (biology) · Subclade · Forensic and Genetic Research · Genetic diversity and population structure · Genetics · Genomics and Phylogenetic Studies

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Unique citing works87
Citations per year3,11
Citation span1998 - 2023 (26)
Citation velocityhistorical
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Citation typesNeutral: 64

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