Haplogroup S (mtDNA) explained

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

Origin

Haplogroup S mtDNA evolved within Australia between 64,000 and 40,000 years ago (51 kya).^[2]

Distribution

It is found in Aboriginal Australian population. Haplogroup S2 found in Willandra Lakes human remain WLH4 dated back Late Holocene (3,000-500 years ago).^{[3] [4]}

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.^[2]

• 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

  • S3 (17-1 kya) found in NT
  • S4 found in NT
  • S5 found in WA
  • S6 found in NSW

See also

References

1. van Oven . Mannis . Kayser . Manfred . Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation . Human Mutation . February 2009 . 30 . 2 . E386–E394 . 10.1002/humu.20921 . 18853457 . 27566749 . free .
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 . Aboriginal Australian mitochondrial genome variation – an increased understanding of population antiquity and diversity . Scientific Reports . March 2017 . 7 . 1 . 43041 . 10.1038/srep43041 . 28287095 . 5347126 . 2017NatSR…743041N .
3. News: Lambert . David . Wright . Joanne . Westaway . Michael . Subramanian . Sankar . New DNA study confirms ancient Aborigines were the First Australians . The Conversation . 8 June 2016 .
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. . Ancient mtDNA sequences from the First Australians revisited . Proceedings of the National Academy of Sciences . 21 June 2016 . 113 . 25 . 6892–6897 . 10.1073/pnas.1521066113 . 27274055 . 4922152 .