Classification of European mtDNAs From an Analysis of Three European Populations

INVESTIGATIONS

Classification of European mtDNAs From an Analysis of Three European Populations

A. Torroni, K. Huoponen, P. Francalacci, M. Petrozzi, L. Morelli, R. Scozzari, D. Obinu, M. L. Savontaus and D. C. Wallace
Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia 30322, Dipartimento di Genetica e Biologia Molecolare, Universita' di Roma ``La Sapienza,'' 00185 Rome, Italy

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

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				C. Di Lorenzo, F. Pierelli, G. Coppola, G. S. Grieco, C. Rengo, M. Ciccolella, D. Magis, M. Bolla, C. Casali, F. M. Santorelli, et al. Mitochondrial DNA haplogroups influence the therapeutic response to riboflavin in migraineurs Neurology, May 5, 2009; 72(18): 1588 - 1594. [Abstract] [Full Text] [PDF]

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				P Yu-Wai-Man, P G Griffiths, G Hudson, and P F Chinnery Inherited mitochondrial optic neuropathies J. Med. Genet., March 1, 2009; 46(3): 145 - 158. [Abstract] [Full Text] [PDF]

				M. N. Bamne, M. E. Talkowski, C. T. Moraes, S. B. Manuck, R. E. Ferrell, K. V. Chowdari, and V. L. Nimgaonkar Systematic Association Studies of Mitochondrial DNA Variations in Schizophrenia: Focus on the ND5 Gene Schizophr Bull, May 1, 2008; 34(3): 458 - 465. [Abstract] [Full Text] [PDF]

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