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The African Origin of Mtdna Haplogroup M1

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The African Origin of Mtdna Haplogroup M1 Current Research Journal of Biological Sciences 2(6): 380-389, 2010 ISSN: 2041-0778 © Maxwell Scientific Organization, 2010 Submitted date: August 25, 2010 Accepted date: September 24, 2010 Published date: November 25, 2010 The African Origin of mtDNA Haplogroup M1 Clyde Winters Governors State University, University Park, Illinois, USA Abstract: The aim of this study is to determine the geographical origin of haplogroup M1. Controversy surrounds the origin and expansion of the M1 haplogroup (hg). Some researchers believe that the M1 macrohaplogroup originated in Asia and represents a backflow to Africa, while other researchers believe hg M1 is of African origin. The analysis of M1 clades in Africa and Eurasia illustrate a high frequency for hg M1 in Sub Saharan Africa instead of Asia and the Near East; and the distribution of haplogroups L3(M) and LOd across Sub Saharan Africa dating back to the Sangoan period make a 'back migration' of M1 to Africa highly unlikely. Key words: Haplogroup, Sangoan, clade, haplotype, mtDNA, subhaplogroup INTRODUCTION MATERIALS AND METHODS Controversy surrounds the origin and expansion of We analyzed the mtDNA sequences of the M the M1 haplogroup. Gonzalez et al. (2007) believe that haplogroup from Africa, Asia, India, Southeast Asia and the M1 macrogroup originated in Asia and Oceania from the literatures at the Uthman dan Fodio represents a backflow to Africa. Other researchers Institute in Chicago, Illinois USA (Gonzalez et al., 2006, believe that the M haplogroup originated in Africa 2007; Ingman et al., 2000, 2003; Kivisild et al., 1999, (Sun et al., 2006; Quintana-Murci et al., 1999). Quintana- 2004; Macaulay et al., 2005; Rajkumar et al., 2005; Murci et al. (1999) has suggested that M1 probably Sun et al., 2006; Tambeto et al., 2000; originated in Ethiopia prior to the out of Africa migration Tanaka et al., 2004). This meta-analysis of mtDNA 60kya. literatures allowed us to critically look at the distribution The M1 haplogroup is a member of the M of M1 alleles across the Macrohalogroup M. macrohaplogroup. M1 is a sister haplogroup to Haplogroup D, one of the major Asian subgroups in RESULTS Macrohaplogroup M. The M, N, and R macrogroups are found throughout East and South and Southeast Asia, the The M1 macrohaplogroup is found throughout Andaman Islands and Africa (Ingman et al., 2000, 2003; Africa and Asia. But the basal M1 lineage has not Macaulay et al., 2005; Tanaka et al., 2004). The M been found outside Africa (Kivisild et al., 2004; haplogroup was probably part of the original out of Africa Rajkumar et al., 2005; Sun et al., 2006). event around 60,000 ya (Kivisild et al., 2004; The Haplogroup M1 branch is defined by several Macaulay et al., 2005; Rando et al., 1998; mutations, including 195T>C, 16129G>A, 16249T>C and Tanaka et al., 2004; Sun et al., 2006), but there is 16311 T>C, in the control region, and 6446G>A,6680T> controversy over wether haplogroup M1 originated in C,12403A>C and 14110T>C (Sun et al., 2006). The Africa, or later in Asia. The transitions 489T>C,10400C>T, and 15043G>A RFLP of M1, considered diagnostic in many early studies, define Haplogroup M, though in the early studies is by MnII site loss at 12402 (an indicator of 12403T). membership in Haplogroup M was usually determined Gonzalez et al. (2007), believes that M1 originated from the results of an RFLP test-an AluI site of np 10397 in Asia and the most ancient M1 sublineage (called M1c ( an indicator of 10400T). All members of haplogroup M by Gonzalez et al., 2007), originated in Northwest Africa, also have other well known differences from CRS, though he reports that the highest frequency of M1 is namely 10398G and 10873C, which are the ancestral found in Sub-Saharan Africa especially East Africa. states, compared to the mutation 10398G>A and Haplotypes with HVSI transitions defining 16129- 10873C>T that occurred in Haplogroups N and R on the 16223-16249-16278-16311-16362; and 16129-16223- line to CRS, and the HVR1 mutation 16223T>C , which 16234-16249-16211-16362 have been found in Thailand also occurred in haplogroup R, also on the line to CRS. and among the Han Chinese (Fucharoen et al., 2001; Haplogroup M originated from an African Haplogroup L3 Yao et al., 2002) and these were originally thought to be background. members of Haplogroup M1. However, on the basis of 380 Curr. Res. J. Biol. Sci., 2(6): 380-389, 2010 currently available FGS sequences, carriers of these Table 1: Continental Population frequencies, Means and Standard markers have been found to be in the D4a branch of Deviations for Haplogroups M1 and M1a based on Gonzalez et al. (2007) Haplogroup D, the most widespread branch of M1 in East Haplogroup Asia (Fucharoen et al., 2001; Yao et al., 2002). The Countinent M1 (%) M1a (%) Mean S D transitions 16129, 16189, 16249 and 16311 are known to Europe 17.9 11.0 14.5 3.45 be recurrent in various branches of Haplogroup M, North Africa 13.7 2.0 7.85 5.85 Africa 55.4 68.0 61.7 6.3 especially M1 and D4. Asia 13.0 19.0 16 2.85 Earlier researchers failed to fine M1 among the M lineages in India (Rajkumar et al., 2005; In addition to the evidence of the coalescence age Olivieri et al., 2006). Gonzalez et al. (2007) also states estimation in support of the antiquity of M1c, that the M1 HVSI diagnostic motif has not been found Gonzalez et al. (2007) believe the presence of M1c among Indian M haplogroups. Gonzalez et al. (2007) among Jordanians is an important indicator for the ancient divided M1 primarily into to subgroups which he called origin of this clade. The evidence of M1c in Jordan, does M1a and M1c, which are now named M1a1 positions not really add to the hypothesis that M1c is the oldest 3705, 12346 and M1b position 13111. M1a1 may be clade because the presence of this clade in the Middle identified when only the HVS1 data is available by its East can be explained by the thousands of West Africans characteristic 16359C. The transitions 16260 and 16182 who have taken the hajj to Mecca, and remained in the occur in subgroups of for M1a1, so they too may be used Middle East, instead of returning to West Africa. to identify a M1a1 sample.M1a1 lineages are frequently The Valencia sample can also be explained by the found in Ethiopia and East Africa. The M1a2 position history of Islam. There is a direct link between Senegal 15884 (called M1b by Gonzalez et al., 2007) branch is and Tariq ibn Ziyad’s invasion of Spain in 711. This link identified by an HVS1 transitions at 16185, and a deletion comes from the fact that many of the followers of Tarik at 16190 deletion, is common in West Africa and Jordan. came from the ribats or ‘religious schools’ he had Gonzalez et al. (2007) notes that the M1a2 (his M1c) established in northern Senegal. Troops from these ribats clade is found in Northwest and West Africa. formed the backbone of Tarik’s army. These African To estimate the coalescence age of haplogroup M1 Muslims ruled much of Spain until 1492. Since M1c is Gonzalez et al. (2007) analyzed 13 complete sequences of presently found in Senegal, the carrier of M1c reported by haplogroup M1. Gonzalez et al. (2007) claims that the Gonzalez et al. (2007) in Valencia may be a descendent M1c lineage is the oldest M1 subclade based on the of these African ‘Moors’ that ruled Spain for over 700 years. coalescence age estimation of the M1 subgroup: M1a Sub-Saharan Africans probably spread hg M1c to (16756±5997), M1b (10155±3590) and M1c Eurasia. Gonzalez et al. (2007) reported that the carriers (19040±4916). This makes M1a and M1b the youngest of the M1c subset were from Jordan, Senegal and clades. The available sample for M1c was complete Valencia. It was revealed above that 1) many of the sequences from individuals found in Jordan, Senegal, and Muslim troops in Tarik’s army that conquered Spain in Spain. The small data set make a precise estimation of the 711 AD, came from Senegal; and 2) many West Africans errors in the data uncertain. after taking the Hajj, visited Jerusalem and settled in the The limited sample for M1c makes it difficult to Middle East. Even if we eliminate the Jordan sample, the effectively quantify the estimation error for the data, since evidence from Valencia and Senegal gives a 67% error increases from level to level in models possessing a probability that M1c originated in Senegal, not Asia or hierarchical structure. The small sample size makes the North Africa because of the historical presence of Sub- confidence intervals overlap. This calls into question the Saharan Africans in both areas. conclusions of Gonzalez et al. (2007) despite the The results published by Gonzalez et al. (2007) fail differing levels of hierarchy. If the sample used by to support his conclusion. In Table 1, we see the Gonzalez et al. (2007) had been larger we might expect geographical ancestry of the groups used in this study. the researchers to have paid close attention to the The percentage of individuals carrying this haplogroup in estimated value of the variance in the data sets. Given the this study was between 13.0 and 55.4% for M1 and 11.0 extremely small size of the data set, the researchers and 68.0% for M1a1. probably had too much confidence in the predicted ages The distribution of continental populations carrying for the M1 subsets, because the sample was too small to the M1 haplogroup favors Africa as the place of origin allow the estimation errors to propagate as the data was instead of Asia for both haplogroup M1 (55.4%) and analyzed.
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