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In human genetics, Haplogroup S is a human mitochondrial DNA (mtDNA) haplogroup found only among Indigenous Australians. It is a descendant of macrohaplogroup N.

Origin

Haplogroup S mtDNA evolved within Australia between 64,000 and 40,000 years ago (51 kya).

Distribution

It is found in the Indigenous Australian population. Haplogroup S2 found in Willandra Lakes human remain WLH4 dated back Late Holocene (3,000–500 years ago).

The following table lists relevant GenBank samples:

Subclades

Tree

This phylogenetic tree of haplogroup S subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation and subsequent published research. The TMRCA for haplogroup S is between 49 and 51 KYA according to Nano Nagle's Aboriginal Australian mitochondrial genome variation – an increased understanding of population antiquity and diversity publication that published in 2017.

• S (64-40 kya) in Australia
  • S1 (53-32 kya) in Australia
    • S1a (44-29 kya) found in WA, NT, QLD and NSW
    • S1b (37-22 kya) found in NT, QLD and NSW
      • S1b1 (30-10 kya) found in NT and QLD
        • S1b1a (24-6 kya) found in QLD
      • S1b2 (17-3 kya) found in QLD
      • S1b3 (20-4 kya) found in QLD and NSW
  • S2 (44-22 kya) in Australia
    • S2a (38-18 kya) found in NT, QLD, NSW and TAS
      • S2a1 (31-12 kya) found in NSW, QLD and TAS
        • S2a1a (19-6 kya) found in NSW and QLD
      • S2a2 (38-11 kya) found in NT, QLD and NSW
    • S2b (42-18 kya) found in WA, NT, QLD and VIC
      • S2b1(27-9 kya) found in NT, QLD and VIC
      • S2b2 (37-12 kya) found in WA, NT and QLD
  • S-T152C!
    • S3 (17-1 kya) found in NT
    • S4 found in NT
    • S5 found in WA
  • S6 found in NSW

See also

• Genealogical DNA test
• Genetic genealogy
• Human mitochondrial genetics
• Population genetics

References

1. ^ van Oven, Mannis; Kayser, Manfred (February 2009). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation. 30 (2): E386 – E394. doi:10.1002/humu.20921. PMID 18853457. S2CID 27566749.
2. ^ Nagle, Nano; van Oven, Mannis; Wilcox, Stephen; van Holst Pellekaan, Sheila; Tyler-Smith, Chris; Xue, Yali; Ballantyne, Kaye N.; Wilcox, Leah; Papac, Luka; Cooke, Karen; van Oorschot, Roland A. H.; McAllister, Peter; Williams, Lesley; Kayser, Manfred; Mitchell, R. John (March 2017). "Aboriginal Australian mitochondrial genome variation – an increased understanding of population antiquity and diversity". Scientific Reports. 7 (1): 43041. Bibcode:2017NatSR...743041N. doi:10.1038/srep43041. PMC 5347126. PMID 28287095.
3. Lambert, David; Wright, Joanne; Westaway, Michael; Subramanian, Sankar (8 June 2016). "New DNA study confirms ancient Aborigines were the First Australians". The Conversation.
4. ^ Heupink, Tim H.; Subramanian, Sankar; Wright, Joanne L.; Endicott, Phillip; Westaway, Michael Carrington; Huynen, Leon; Parson, Walther; Millar, Craig D.; Willerslev, Eske; Lambert, David M. (21 June 2016). "Ancient mtDNA sequences from the First Australians revisited". Proceedings of the National Academy of Sciences. 113 (25): 6892–6897. doi:10.1073/pnas.1521066113. PMC 4922152. PMID 27274055.
5. ^ Nagle, Nano; van Oven, Mannis; Wilcox, Stephen; van Holst Pellekaan, Sheila; Tyler-Smith, Chris; Xue, Yali; Ballantyne, Kaye N.; Wilcox, Leah; Papac, Luka; Cooke, Karen; van Oorschot, Roland A. H.; McAllister, Peter; Williams, Lesley; Kayser, Manfred; Mitchell, R. John (2017-03-13). "Aboriginal Australian mitochondrial genome variation – an increased understanding of population antiquity and diversity". Scientific Reports. 7 (1): Supplementary Figure 2. doi:10.1038/srep43041. PMC 5347126. PMID 28287095.

External links

• Ian Logan's Mitochondrial DNA Site: Haplogroup S
• Mannis van Oven's Phylotree

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