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Mitochondrial lineage M1 traces an early human backflow to Africa - PubMed

  • ️Mon Jan 01 2007

Mitochondrial lineage M1 traces an early human backflow to Africa

Ana M González et al. BMC Genomics. 2007.

Abstract

Background: The out of Africa hypothesis has gained generalized consensus. However, many specific questions remain unsettled. To know whether the two M and N macrohaplogroups that colonized Eurasia were already present in Africa before the exit is puzzling. It has been proposed that the east African clade M1 supports a single origin of haplogroup M in Africa. To test the validity of that hypothesis, the phylogeographic analysis of 13 complete mitochondrial DNA (mtDNA) sequences and 261 partial sequences belonging to haplogroup M1 was carried out.

Results: The coalescence age of the African haplogroup M1 is younger than those for other M Asiatic clades. In contradiction to the hypothesis of an eastern Africa origin for modern human expansions out of Africa, the most ancestral M1 lineages have been found in Northwest Africa and in the Near East, instead of in East Africa. The M1 geographic distribution and the relative ages of its different subclades clearly correlate with those of haplogroup U6, for which an Eurasian ancestor has been demonstrated.

Conclusion: This study provides evidence that M1, or its ancestor, had an Asiatic origin. The earliest M1 expansion into Africa occurred in northwestern instead of eastern areas; this early spread reached the Iberian Peninsula even affecting the Basques. The majority of the M1a lineages found outside and inside Africa had a more recent eastern Africa origin. Both western and eastern M1 lineages participated in the Neolithic colonization of the Sahara. The striking parallelism between subclade ages and geographic distribution of M1 and its North African U6 counterpart strongly reinforces this scenario. Finally, a relevant fraction of M1a lineages present today in the European Continent and nearby islands possibly had a Jewish instead of the commonly proposed Arab/Berber maternal ascendance.

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Figures

Figure 1
Figure 1

Phylogenetic tree based on complete M1 sequences. Numbers along links refer to nucleotide positions. C, G indicate transversions; "d" deletions and "i" insertions. Recurrent mutations are underlined. Star differs from rCRS [62, 63] at positions: 73, 263, 311i, 750, 1438, 2706, 4769, 7028, 8701, 8860, 9540, 10398, 10873, 11719, 12705, 14766, 15301, 15326, 16223 and 16519. Subject origins are: Asian (ASI HER; [54]) and 2 Ethiopians (AFR-KI43 and AFR-KI15; [55]) only analyzed for coding region; Georgian (GEO 2463); Indian (IND-B156; [25]); 2 Jordanians (JOR 771; [7] and JOR 841); 2 Moroccans (MOR 252; [7] and BER 957 = Berber); Saudi Arab (SAU ARA); Serere from Senegal (SER 558); 3 Spanish (Basque = BAS V82, Castilian = CAS 2490, and Valencian = VAL 1881). Doted branches include subjects only analyzed for RFLP and HVI region [22]. Roman numbers refers to the Quintana-Murci et al. [22] nomenclature.

Figure 2
Figure 2

Reduced median network relating M1 HVSI sequences. The central motif (star) differs from rCRS at positions: 16129 16189 16223 16249 16311 for HVI control region. Numbers along links refer to nucleotide positions minus 16000: homoplasic mutations are underlined, and positions not used in diversity estimations are in italics. The broken lines are less probable links in accordance with completed sequences (Fig. 1) and/or mutation recurrence. Size of boxes is proportional to the number of individuals included. Codes are: NWA = Northwest Africa (ALB = Algerian Berber; ALG = Algerian; MBE = Moroccan Berber; MOR = Moroccan; SAH = Saharan; TNA = Tunisia Arab; TNB = Tunisia Berber); CWA = Central West Africa (GUB = Guinea Bissau; IVC = Ivory Coast; MAL = Mali; SEN = Senegalese); NEA = Northeast Africa (EGY = Egyptian; NUB = Nubian; SUD = Sudanese); CEA = Central East Africa (ETH = Ethiopian; KEN = Kenyan; SOM = Somali); WAS = West Asia (ARA = Arab; ARB = Arab Bedouin; CAU = Caucasian; GEO = Georgian; JOR = Jordanian; IDR = Israel Druze; IND = Indian; IRN = Iranian; KGZ = Kirghiz; NOG = Nogay; PAL = Palestinian; TIB = Tibetan; TUR = Turkish; YEM = Yemeni); IPE = Iberian Peninsula and islands (AZO = Azores; CAI = Canary Islander; CVE = Cape Verde; MAD = Madeira islander; POR = Portuguese; SPA = Spanish); MEU = Mediterranean Europe (CRO = Croatian; CMD = Central Mediterranean; GRE = Greek; ITA = Italian; SAR = Sardinian; SIC = Sicilian); REU = Rest of Europe (GBA = English); JEW = Jews (JBA = Baltic Jew; JCE = Central Europe Jew; JET = Ethiopian Jew; JIQ = Iraqi Jew; JIN = Iranian Jew; JIP = Spanish Jew; JWE = Western Europe Jew). In boldface and underlined individual complete sequenced.

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