Sequence Information and Database

    HVR1 (-16000): signature sequences at certain defined branching points. (See: Kivisild, 2002). Polymorphisms at nucleotide positions 182 and 183 appear to be hypervariable and are neither informative of phylogenetic relationships nor reported in a consistent manner by different authors. Nucleotide position 519 is also hypervariable.

        * SE - South East Europe.
        ** Sequences from Yao's 2003 study.
        *** Sequences from Kivilsid's 2002 study.

   Additional Databases

    Oxford Ancestors Matriline Database
     Mitochondrial DNA Concordance
    mtDNA Charts
     mtDNA Log
    Family Tree DNA's Mitosearch.org

Haplogroup B is most distinguished by what is called a "9-bp deletion". According to Yao (Yao 2000), it arose in China and was "followed by the nucleotide substitutions at position 16217 and then at position 16261. The mtDNAs carrying these markers spread extensively throughout east and southeast Asia and expanded northward to Siberia and America, and eastward into Taiwan and then to the Pacific Islands as shown in other studies (Redd et al. 1995; Melton et al. 1995, 1998; Su et al. 1999)."

Some authors have subdivided the haplogroup into Haplogroup B1 and B2. One study distinguishes the two by the occurrence of 16517 or the occurrence of 16217, respectively (see Brown). Another distinguishes the two by the presence of 16189C and 16217C, or the presence of 16189C and 16243C, respectively (Kivilsid 1999). These, in addition to Haplogroup  B's distinguishing 9bp del; 16189C.

B4 is the "prevailing bough in haplogroup B (see fig. 2 ), covering all haplogroup B types in Native Americans and Polynesians. B5 is found most frequent, accounting for about one third to one half of the B types, in eastern China, Korea, and Japan". (Kivilsid 2002).

B4a - Pre-Polynesian motif - 189, 217, 261. Found in remote Oceania, Near Oceania, South East Asia, and a single Native American.  (Hurles 2003). Related mtDNA types are highest in frequency in the corridor from Taiwan, south through the Philippines and east Indonesia. The highest diversity for these types is in Taiwan, which is "consistent with linguistic evidence of a Taiwanese origin for the proto-Polynesian expansion" throughout Oceania by way of Indonesia. (Melton 1995). This expansion is believed to have began about 5,500 yrs ago. (Redd 1995). The particular pre-Polynesian lineage associated with this movement has been named B4a1a  and is thought to have originated around 13000 years ago.  (Trejaut 2005). B4a1a occurs frequently among the Amis and Yami tribes, whereas a second lineage, B4a2, is common in the southern tribes Paiwan, Puyuma, Rukai, and Yami.  For more in-depth discussion of B4a1a and the various theories and counter theories associated with it, see Friedlaender JS, Friedlaender FR, Hodgson JA, Stoltz M, Koki G, et al. (2007) Melanesian mtDNA Complexity. PLoS ONE 2(2): e248. doi:10.1371/journal.pone.0000248. [Full Study]

As stated earlier, Haplogroup B has the highest frequency in Asia among Polynesians. There is even a "Polynesian motif" which is distinguished from all others by the occurrence of transitions at 16217, 16247, and 16261. (Yao 2000).  Click the map below to see a graphic representation and explanation of the local distributions of this motif, or click the following link to read the study from which it came: S.Oppenheimer, M. Richards. Fast trains, slow boats, and the ancestry of the Polynesian Islanders. Science Progress (2001), 84 (3), 157–181. [Full Study]

Notably, only 3.5% of Polynesian mtDNA haplotypes are characterized by a variant at positions 265, while 0.6% share variants at positions 172 and 304. (Sykes 1995). 

References:

Brown MD, Hosseini S, Sukernik RI, Starikovskaya YB, Derbeneva O, Torroni A, Wallace DC. The molecular definition of haplogroup B: significant heterogeneity revealed by complete sequence analysis of Asian and Native American haplogroup B mtDNAs. [ASHG Abstract]

Derenko MV, Grzybowski T, Malyarchuk BA, Dambueva IK, Denisova GA, Czarny J, Dorzhu CM, Kakpakov VT, Miscicka-Sliwka D, Wozniak M, Zakharov IA. Diversity of mitochondrial DNA lineages in South Siberia. Ann Hum Genet. 2003 Sep;67(Pt 5):391-411. [PubMed]

Hurles ME, Maund E, Nicholson J, Bosch E, Renfrew C, Sykes BC, Jobling MA. Native American Y Chromosomes in Polynesia: The Genetic Impact of the Polynesian Slave Trade. Am J Hum Genet. 2003 May;72(5):1282-7. Epub 2003 Mar 18. [PubMed]

Kivisild T, Tolk HV, Parik J, Wang Y, Papiha SS, Bandelt HJ, Villems R. The Emerging Limbs and Twigs of the East Asian mtDNA Tree. Mol Biol Evol. 2002 Oct;19(10):1737-51. (Han Chinese) [PubMed]

Kivisild T, Kaldma K, Metspalu M, Parik J, Papiha S, Villems R. The Place of the Indian mtDNA Variants in the Global Network of Maternal Lineages and the Peopling of the Old World. Genomic Diversity. 1999; 135-152. [Full Publication]

Melton T, Peterson R, Redd AJ, Saha N, Sofro AS, Martinson J, Stoneking M. Polynesian genetic affinities with Southeast Asian populations as identified by mtDNA analysis. Am J Hum Genet. 1995 Aug;57(2):403-14. [PubMed]

Redd AJ, Takezaki N, Sherry ST, McGarvey ST, Sofro AS, Stoneking M. Evolutionary history of the COII/tRNALys intergenic 9 base pair deletion in human mitochondrial DNAs from the Pacific. Mol Biol Evol. 1995 Jul;12(4):604-15. [PubMed]

Richards, et. al. Tracing European founder lineages in the Near Eastern mtDNA pool.  Am J Hum Genet. 2000 Nov;67(5):1251-76. Epub 2000 Oct 16. [PubMed]

Sykes B, Leiboff A, Low-Beer J, Tetzner S, Richards M. The origins of the Polynesians: an interpretation from mitochondrial lineage analysis. Am J Hum Genet. 1995 Dec;57(6):1463-75. [PubMed]

S. A. Fedorova,  M. A. Bermisheva, R. Villems, N. R. Maksimova, E. K. Khusnutdinova. Analysis of Mitochondrial DNA Lineages in Yakuts. Molecular Biology, Vol. 37, No. 4, 2003, pp. 544–553. Translated from Molekulyarnaya Biologiya, Vol. 37, No. 4, 2003, pp. 643–653.[Abstract]

Trejaut JA, Kivisild T, Loo JH, Lee CL, He CL, Hsu CJ, Li ZY, Lin M. Traces of Archaic Mitochondrial Lineages Persist in Austronesian-Speaking Formosan Populations. PLoS Biol. 2005 August; 3(8): e247 [Full Study]

Xiao C, Su B, Seielstad M, Kangwangpong E, Xiao H, Wen B, Jin L. Genetic Relationships of 15 Southeast Asian populations: mtDNA evidence. [Abstract]

Yao YG, Kong QP, Man XY, Bandelt HJ, Zhang YP. Reconstructing the Evolutionary History of China: A Caveat About Inferences Drawn from Ancient DNA. Mol. Biol. Evol. 20(2):214–219. 2003. [Full Study].

Yao YG, Watkins WS, Zhang YP. Evolutionary history of the mtDNA 9-bp deletion in Chinese populations and its relevance to the peopling of east and southeast Asia. Hum Genet. 2000 Nov;107(5):504-12. [PubMed].

Additional References:

S.Oppenheimer, M. Richards. Fast trains, slow boats, and the ancestry of the Polynesian Islanders. Science Progress (2001), 84 (3), 157–181. [Full Study]

Tanaka M, Cabrera VM, Gonzalez AM, et.al. Mitochondrial genome variation in eastern Asia and the peopling of Japan. Genome Res. 2004 Oct;14(10A):1832-50. [Full Study]

Back