1.4 World mtDNA haplogroups The most common way to represent phylogenetic relations is to reconstruct phylogenetic trees of mtDNA l<strong>in</strong>eages. In the root of the global mtDNA tree is the „mitochondrial Eve“, who lived approximately 150,000-200,000 years before present (ybp) (Ingman et al., 2001; Soares et al., 2009), which is very close to the age of the earliest modern humans estimated <strong>from</strong> fossil data ~195,000 ybp (McDougall et al., 2005). This MRCA gave rise to exclusively African major haplogroups L0-6. Only one of them, haplogroup L3, is shared by Africans with the rest of the world (Vigilant et al., 1991; Chen YS et al., 1995; Brown, 1980). In addition to other branches, In addition to others branches, L3 gave rise to macro-haplogroups M, N, <strong>and</strong> N subgroup R, which are ancestors of all non-African mtDNA l<strong>in</strong>eages. The found<strong>in</strong>g ages of the correspond<strong>in</strong>g root types of M, N <strong>and</strong> R clades are very similar, about 60,000 years (Macaulay et al., 2005), rais<strong>in</strong>g the possibility that M <strong>and</strong> N haplogroups are derived <strong>from</strong> a s<strong>in</strong>gle African migration, which took place ~ 65,000-70,000 ybp <strong>from</strong> eastern Africa (Forster, 2001; Soares et al., 2009;). The haplogroup N (<strong>in</strong>clud<strong>in</strong>g R) has spread all over Eurasia, <strong>in</strong> contrast to haplogroup M, which is found <strong>in</strong> Eastern Eurasia but is virtually absent <strong>in</strong> Europe (Metspalu et al., 2004). Macro-haplogroup M gave rise to different M haplogroups (M1-M25) <strong>and</strong> to haplogroups D, C, E, G, Q <strong>and</strong> Z. Macro-haplogroup N gave rise to haplogroups A, I, O, S, W, X <strong>and</strong> Y. From haplogroup R derive haplogroups B, F, J, H, K, P, T, HV, V, <strong>and</strong> U. As confirms the archaeological data, already by 40,000 ybp modern humans were <strong>in</strong> southern Siberia <strong>and</strong> by 30,000 ybp have spread to the arctic Siberia (Goebel, 1999; Pitulko et al., 2004). The data when humans moved <strong>from</strong> Asia to America is still debatable, but this could happen between 30,000 <strong>and</strong> 13,000 ybp (Goebel et al., 2008). 1.5 Native American mtDNA haplogroups America was the last cont<strong>in</strong>ent reached by anatomically modern humans. In early studies, based on RFLP analysis <strong>and</strong> through sequenc<strong>in</strong>g of the HVS-I region, 4 dist<strong>in</strong>ct haplogroup clusters were recognized, <strong>in</strong>itially named A, B, C <strong>and</strong> D (Schurr et al., 1990; Torroni et al., 1993); the X haplogroup was identified a few years later (Brown et al., 1998). Today they are termed as A2, B2, C1, D1 <strong>and</strong> X2a haplogroups (Achilli et al., 2008; Perego et al., 2009; Tamm et al., 2007). The study of complete Amer<strong>in</strong>dian mtDNA sequences has allowed <strong>in</strong>vestigators to exam<strong>in</strong>e mtDNA <strong>variation</strong> <strong>in</strong> the Americas with much greater resolution. 8
Figure 2. Diagnostic markers of Native Americans mtDNA l<strong>in</strong>eages. Characteristic mutational positions are relative to rCRS <strong>and</strong> marked with red. Orig<strong>in</strong>: modified Perego et al., 2010. 9
- Page 1 and 2: TARTU UNIVERSITY FACULTY OF SCIENCE
- Page 3 and 4: ABBREVIATIONS bp - base pair D-loop
- Page 5 and 6: 1. LITERATURE OVERVIEW 1.1 Mitochon
- Page 7: One of the reasons may be, that ped
- Page 11 and 12: According to it, only one small gro
- Page 13 and 14: their way down to the South America
- Page 15 and 16: 2. EXPERIMENTAL STUDY 2.1 Aims of t
- Page 17 and 18: To determine possible contamination
- Page 19 and 20: * let dry at 37ºC for 5 min *add 1
- Page 21 and 22: 2.3 RESULTS AND DISCUSSION 2.3.1 Ph
- Page 23 and 24: that populations have gone through
- Page 25 and 26: Figure 5. Haplogroup A haplotype ne
- Page 27 and 28: Figure 7. Haplogroup C haplotype ne
- Page 29 and 30: 2.3.2 C4c haplogroup One Huichol in
- Page 31 and 32: N 12705s 16223 R 73 11719s R0 14766
- Page 33 and 34: CONCLUSIONS Mitochondrial DNA has b
- Page 35 and 36: mitokondriaalne DNA. Huitšoli proo
- Page 37 and 38: References Achilli, A, Perego, U. A
- Page 39 and 40: Forster, P., Torroni, A., Renfrew,
- Page 41 and 42: Loogvali, E. L., Kivisild, T., Marg
- Page 43 and 44: Sandoval, K., Buentello-Malo, L., P
- Page 45 and 46: SUPPLEMENTARY MATERIALS Tabel 1.1.
- Page 47 and 48: Table 4.Data used for haplogroups f