Using mitochondrial DNA to test the hypothesis of a European post-glacial human recolonization from the Franco-Cantabrian refuge

Heredity

Volumn 106, Issue 1, 2011, Pages 37-45

  Garcia O ^a   Fregel, R ^b   Larruga, J M ^b   Alvarez V ^c   Yurrebaso, I ^a   Cabrera, V M ^b   Gonzalez A M ^b  

^a Basque Country Forensic Genetics Laboratory   (Spain)

^b UNIVERSIDAD DE LA LAGUNA   (Spain)

^c HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

Author keywords

Franco Cantabrian refuge theory; humans; mtDNA haplogroups

Indexed keywords

MITOCHONDRIAL DNA;

GENETIC ANALYSIS; GENETIC VARIATION; HUMAN GEOGRAPHY; HYPOTHESIS TESTING; MESOLITHIC; MITOCHONDRIAL DNA; RECOLONIZATION; REFUGE;

ARTICLE; CAUCASIAN; DNA SEQUENCE; FRANCE; GENETICS; HAPLOTYPE; HUMAN; ICE COVER; PHYLOGENY; SPAIN;

DNA, MITOCHONDRIAL; EUROPEAN CONTINENTAL ANCESTRY GROUP; FRANCE; HAPLOTYPES; HUMANS; ICE COVER; PHYLOGENY; SEQUENCE ANALYSIS, DNA; SPAIN;

EID: 78650304335     PISSN: 0018067X     EISSN: 13652540     Source Type: Journal    
DOI: 10.1038/hdy.2010.47     Document Type: Article

References (56)

1. Achilli A, Rengo C, Magri C, Battaglia V, Olivieri A, Scozzari R et al. (2004). The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. Am J Hum Genet 75: 910-918.
2. Alfonso-Sanchez MA, Cardoso S, Martinez-Bouzas C, Pena JA, Herrera RJ, Castro A et al. (2008). Mitochondrial DNA haplogroup diversity in Basques: a reassessment based on HVI and HVII polymorphisms. Am J Hum Biol 20: 154-164.
3. Alonso S, FloresC,Cabrera V, Alonso A, Martin P, Albarran C et al. (2005). The place of the Basques in the European Y-chromosome diversity landscape. Eur J Hum Genet 13: 1293-1302.
4. Alvarez-Iglesias V, Mosquera-Miguel A, Cerezo M, Quintans B, Zarrabeitia MT, Cusco I et al. (2009). New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0. PLoS ONE 4: e5112.
5. Alzualde A, Izagirre N, Alonso S, Alonso A, Albarran C, Azkarate A et al. (2006). Insights into the 'isolation' of the Basques: mtDNA lineages from the historical site of Aldaieta (6th-7th centuries AD). Am J Phys Anthropol 130: 394-404.
6. Alzualde A, Izagirre N, Alonso S, Alonso A, de la Rua C (2005). Temporal mitochondrial DNA variation in the Basque Country: influence of post-Neolithic events. Ann Hum Genet 69(Pt 6): 665-679.
7. Bandelt HJ, Forster P, Rohl A (1999). Median-joining networks for inferring intraspecific phylogenies. Mol Biol Evol 16: 37-48.
8. Bauchet M, McEvoy B, Pearson LN, Quillen EE, Sarkisian T, Hovhannesyan K et al. (2007). Measuring European population stratification with microarray genotype data. Am J Hum Genet 80: 948-956.
9. Bertranpetit J, Sala J, Calafell F, Underhill PA, Moral P, Comas D (1995). Human mitochondrial DNA variation and the origin of Basques. Ann Hum Genet 59(Pt 1): 63-81.
10. Bosch E, Calafell F, Comas D, Oefner PJ, Underhill PA, Bertranpetit J (2001). High-resolution analysis of human Y-chromosome variation shows a sharp discontinuity and limited gene flow between northwestern Africa and the Iberian Peninsula. Am J Hum Genet 68: 1019-1029.
11. Corte-Real HB, Macaulay VA, Richards MB, Hariti G, Issad MS, Cambon-Thomsen A et al. (1996). Genetic diversity in the Iberian Peninsula determined from mitochondrial sequence analysis. Ann Hum Genet 60(Pt 4): 331-350.
12. Di Giacomo F, Luca F, Anagnou N, Ciavarella G, Corbo RM, Cresta M et al. (2003). Clinal patterns of human Y chromosomal diversity in continental Italy and Greece are dominated by drift and founder effects. Mol Phylogenet Evol 28: 387-395.
13. Dubut V, Chollet L, Murail P, Cartault F, Beraud-Colomb E, Serre M et al. (2004). mtDNA polymorphisms in five French groups: importance of regional sampling. Eur J Hum Genet 12: 293-300.
14. Ennafaa H, Cabrera VM, Abu-Amero KK, Gonzalez AM, Amor MB, Bouhaha R et al. (2009). Mitochondrial DNA haplogroup H structure in North Africa. BMC Genet 10: 8.
15. Flores C, Maca-Meyer N, Gonzalez AM, Oefner PJ, Shen P, Perez JA et al. (2004). Reduced genetic structure of the Iberian peninsula revealed by Y-chromosome analysis: implications for population demography. Eur J Hum Genet 12: 855-863.
16. Gamble C, Davies W, Pettitt P, Richards M (2004). Climate change and evolving human diversity in Europe during the last glacial. Philos Trans R Soc Lond B Biol Sci 359: 243-253, discussion 253-244.
17. Gasparre G, Porcelli AM, Bonora E, Pennisi LF, Toller M, Iommarini L et al. (2007). Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumors. Proc Natl Acad Sci USA 104: 9001-9006.
18. Gonzalez AM, Garcia O, Larruga JM, Cabrera VM (2006). The mitochondrial lineage U8a reveals a Paleolithic settlement in the Basque country. BMC Genomics 7: 124.
19. Herrnstadt C, Elson JL, Fahy E, Preston G, Turnbull DM, Anderson C et al. (2002). Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. Am J Hum Genet 70: 1152-1171.
20. Hurlbert SH (1971). The non-concept of species diversity: a critique and alternative parameters. Ecology 52: 577-586.
21. Hurles ME, Veitia R, Arroyo E, Armenteros M, Bertranpetit J, Perez-Lezaun A et al. (1999). Recent male-mediated gene flow over a linguistic barrier in Iberia, suggested by analysis of a Y-chromosomal DNA polymorphism. Am J Hum Genet 65: 1437-1448.
22. Ingman M, Kaessmann H, Paabo S, Gyllensten U (2000). Mitochondrial genome variation and the origin of modern humans. Nature 408: 708-713.
23. Izagirre N, de la Rua C (1999). An mtDNA analysis in ancient Basque populations: implications for haplogroup V as a marker for a major Paleolithic expansion from southwestern Europe. Am J Hum Genet 65: 199-207.
24. Kivisild T, Shen P, Wall DP, Do B, Sung R, Davis K et al. (2006). The role of selection in the evolution of human mitochondrial genomes. Genetics 172: 373-387.
25. Kujanova M, Pereira L, Fernandes V, Pereira JB, Cerny V (2009). Near Eastern Neolithic genetic input in a small oasis of the Egyptian Western Desert. Am J Phys Anthropol 140: 336-346.
26. Loogvali EL, Roostalu U, Malyarchuk BA, Derenko MV, Kivisild T, Metspalu E et al. (2004). Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia. Mol Biol Evol 21: 2012-2021.
27. Lopez-Parra AM, Gusmao L, Tavares L, Baeza C, Amorim A, Mesa MS et al. (2009). In search of the pre- and post-Neolithic genetic substrates in Iberia: evidence from Y-chromosome in Pyrenean populations. Ann Hum Genet 73: 42-53.
28. Maca-Meyer N, Gonzalez AM, Larruga JM, Flores C, Cabrera VM (2001). Major genomic mitochondrial lineages delineate early human expansions. BMC Genet 2: 13.
29. Maca-Meyer N, Sanchez-Velasco P, Flores C, Larruga JM, Gonzalez AM, Oterino A et al. (2003). Y chromosome and mitochondrial DNA characterization of Pasiegos, a human isolate from Cantabria (Spain). Ann Hum Genet 67(Pt 4): 329-339.
30. Malyarchuk B, Grzybowski T, Derenko M, Perkova M, Vanecek T, Lazur J et al. (2008). Mitochondrial DNA phylogeny in Eastern and Western Slavs. Mol Biol Evol 25: 1651-1658.
31. McEvoy B, Richards M, Forster P, Bradley DG (2004). The Longue Durée of genetic ancestry: multiple genetic marker systems and Celtic origins on the Atlantic facade of Europe. Am J Hum Genet 75: 693-702.
32. Menozzi P, Piazza A, Cavalli-Sforza L (1978). Synthetic maps of human gene frequencies in Europeans. Science 201: 786-792.
33. Mishmar D, Ruiz-Pesini E, Golik P, Macaulay V, Clark AG, Hosseini S et al. (2003). Natural selection shaped regional mtDNA variation in humans. Proc Natl Acad Sci USA 100: 171-176.
34. Nei N (1987). Molecular Evolutionary Genetics. Columbia University Press: New York. Novembre J
35. Johnson T, Bryc K, Kutalik Z, Boyko AR, Auton A et al. (2008). Genes mirror geography within Europe. Nature 456: 98-101.
36. Pereira L, Goncalves J, Franco-Duarte R, Silva J, Rocha T, Arnold C et al. (2007). No evidence for an mtDNA role in sperm motility: data from complete sequencing of asthenozoospermic males. Mol Biol Evol 24: 868-874.
37. Pereira L, Richards M, Goios A, Alonso A, Albarran C, Garcia O et al. (2005). High-resolution mtDNA evidence for the lateglacial resettlement of Europe from an Iberian refugium. Genome Res 15: 19-24.
38. Richard C, Pennarun E, Kivisild T, Tambets K, Tolk HV, Metspalu E et al. (2007). An mtDNA perspective of French genetic variation. Ann Hum Biol 34: 68-79.
39. Richards M, Corte-Real H, Forster P, Macaulay V, Wilkinson-Herbots H, Demaine A et al. (1996). Paleolithic and Neolithic lineages in the European mitochondrial gene pool. Am J Hum Genet 59: 185-203.
40. Richards M, Macaulay V, Hickey E, Vega E, Sykes B, Guida V et al. (2000). Tracing European founder lineages in the Near Eastern mtDNA pool. Am J Hum Genet 67: 1251-1276.
41. Roostalu U, Kutuev I, Loogvali EL, Metspalu E, Tambets K, Reidla Met al. (2007). Origin and expansion of haplogroup H, the dominant human mitochondrial DNA lineage in West Eurasia: the Near Eastern and Caucasian perspective. Mol Biol Evol 24: 436-448.
42. Rootsi S, Magri C, Kivisild T, Benuzzi G, Help H, Bermisheva M et al. (2004). Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in Europe. Am J Hum Genet 75: 128-137.
43. Rosser ZH, Zerjal T, Hurles ME, Adojaan M, Alavantic D, Amorim A et al. (2000). Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language. Am J Hum Genet 67: 1526-1543.
44. Schneider S, Roessli D, Excoffier L (2000). Arlequin ver. 2000: A software for population genetics data analysis. Genetics and Biometry Laboratory, University of Geneva: Geneva, Switzerland.
45. Seldin MF, Shigeta R, Villoslada P, Selmi C, Tuomilehto J, Silva G et al. (2006). European population substructure: clustering of northern and southern populations. PLoS Genet 2: e143.
46. Semino O, Passarino G, Oefner PJ, Lin AA, Arbuzova S, Beckman LE et al. (2000). The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective. Science 290: 1155-1159.
47. Simoni L, Calafell F, Pettener D, Bertranpetit J, Barbujani G (2000). Geographic patterns of mtDNA diversity in Europe. Am J Hum Genet 66: 262-278. (Pubitemid 30481488)
48. Soares P, Ermini L, Thomson N, Mormina M, Rito T, Rohl A et al. (2009). Correcting for purifying selection: an improved human mitochondrial molecular clock. Am J Hum Genet 84: 740-759.
49. Svoboda JA (2007). The Gravettian of the middle Danube. Paleo 19: 203-220.
50. Szpiech ZA, Jakobsson M, Rosenberg NA (2008). ADZE: a rarefaction approach for counting alleles private to combinations of populations. Bioinformatics 24: 2498-2504.
51. Tajima F (1983). Evolutionary relationship of DNA sequences in finite populations. Genetics 105: 437-460.
52. Terberger T, Street M (2002). Hiatus or continuity? New results for the question of pleniglacial settlement in Central Europe. Antiquity 76: 691-698.
53. Torroni A, Bandelt HJ, Durbano L, Lahermo P, Moral P, Sellitto D et al. (1998). mtDNA analysis reveals a major late Paleolithic population expansion from southwestern to northeastern Europe. Am J Hum Genet 62: 1137-1152.
54. Torroni A, Bandelt HJ, Macaulay V, Richards M, Cruciani F, Rengo C et al. (2001). A signal, from human mtDNA, of postglacial recolonization in Europe. Am J Hum Genet 69: 844-852.
55. van Oven M, Kayser M (2009). Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Hum Mutat 30: E386-E394.
56. Wilson JF, Weiss DA, Richards M, Thomas MG, Bradman N, Goldstein DB (2001). Genetic evidence for different male and female roles during cultural transitions in the British Isles. Proc Natl Acad Sci USA 98: 5078-5083.