Haplogroup S
Possible time of origin64,000-47,000 years ago
Possible place of originAustralia
AncestorN
DescendantsS1, S2, S3, S4, S5, S6
Defining mutations8404[1]

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

Map of Haplogroup S mtDNA

Origin

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

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).[3][4]

The following table lists relevant GenBank samples:

HaplogroupGenBank IDSample's EraRegion
S*KY595638ModernNew South Wales[5]
S1KY595550ModernQueensland[5]
S1aDQ404440ModernNew South Wales[5]
S1aDQ404441ModernNorthern Territory[5]
S1a1KY595591ModernQueensland[5]
S1a1aJN226144ModernWestern Australia[5]
S1a1aKY595596ModernQueensland[5]
S1a1aKY595610ModernQueensland[5]
S1a1bKY595597ModernQueensland[5]
S1a1bKY595623ModernQueensland[5]
S1b1AF346963ModernNorthern Territory[5]
S1b1KY595632ModernQueensland[5]
S1b1aKY595615ModernQueensland[5]
S1b1a1KY595551ModernQueensland[5]
S1b1a1KY595559ModernQueensland[5]
S1b2KY595560ModernQueensland[5]
S1b2KY595566ModernQueensland[5]
S1b2aKY595620ModernNew South Wales[5]
S1b3KY595579ModernQueensland[5]
S1b3aKY595546ModernQueensland[5]
S1b3aKY595562ModernQueensland[5]
S1b3a1KY595547ModernQueensland[5]
S1b3a1KY595548ModernQueensland[5]
S2aAY289051ModernNorthern Territory[5]
S2aAY289061ModernNorthern Territory[5]
S2aKY595586ModernQueensland[5]
S2aKY595604ModernVictoria[5]
S2bKY595670ModernTasmania[5]
S2b1aKY595567ModernNew South Wales[5]
S2b1a1MK165667AncientBarham, New South Wales
S2b1a1MK165668AncientBarham, New South Wales
S2b1bKY595616ModernQueensland[5]
S2b1bKY595664ModernQueensland[5]
S2b1cKU659023AncientWillandra Lakes Region, New South Wales[4]
S2b1c1KY595602ModernNew South Wales[5]
S2b1c1KY595603ModernNew South Wales[5]
S2cJN226145ModernWestern Australia[5]
S2c1AY289060ModernNorthern Territory[5]
S2c1KY595624ModernQueensland[5]
S2d1KY595557ModernQueensland[5]
S2d1aAF346964ModernNorthern Territory[5]
S2d1aKY595580ModernQueensland[5]
S2d2KY595549ModernNew South Wales[5]
S2d2KY595592ModernQueensland[5]
S3AY289066ModernNorthern Territory[5]
S3AY289067ModernNorthern Territory[5]
S4AY289062ModernNorthern Territory[5]
S5EF495220ModernKalumburu, Western Australia

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[1] 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

Wikimedia Commons has media related to Haplogroup S (mtDNA).

Phylogenetic tree of human mitochondrial DNA (mtDNA) haplogroups

  Mitochondrial Eve (L)    
L0 L1–6  
L1 L2   L3     L4 L5 L6
M N  
CZ D E G Q   O A S R   I W X Y
C Z B F R0   pre-JT   P   U
HV JT K
H V J T

References

  1. 1 2 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. 1 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. 1 2 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. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 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.
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