Biology:Haplogroup S (mtDNA)

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Short description: Human mitochondrial DNA grouping found in Australia
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:

Haplogroup GenBank ID Sample's Era Region
S* KY595638 Modern New South Wales[5]
S1 KY595550 Modern Queensland[5]
S1a DQ404440 Modern New South Wales[5]
S1a DQ404441 Modern Northern Territory[5]
S1a1 KY595591 Modern Queensland[5]
S1a1a JN226144 Modern Western Australia[5]
S1a1a KY595596 Modern Queensland[5]
S1a1a KY595610 Modern Queensland[5]
S1a1b KY595597 Modern Queensland[5]
S1a1b KY595623 Modern Queensland[5]
S1b1 AF346963 Modern Northern Territory[5]
S1b1 KY595632 Modern Queensland[5]
S1b1a KY595615 Modern Queensland[5]
S1b1a1 KY595551 Modern Queensland[5]
S1b1a1 KY595559 Modern Queensland[5]
S1b2 KY595560 Modern Queensland[5]
S1b2 KY595566 Modern Queensland[5]
S1b2a KY595620 Modern New South Wales[5]
S1b3 KY595579 Modern Queensland[5]
S1b3a KY595546 Modern Queensland[5]
S1b3a KY595562 Modern Queensland[5]
S1b3a1 KY595547 Modern Queensland[5]
S1b3a1 KY595548 Modern Queensland[5]
S2a AY289051 Modern Northern Territory[5]
S2a AY289061 Modern Northern Territory[5]
S2a KY595586 Modern Queensland[5]
S2a KY595604 Modern Victoria[5]
S2b KY595670 Modern Tasmania[5]
S2b1a KY595567 Modern New South Wales[5]
S2b1a1 MK165667 Ancient Barham, New South Wales
S2b1a1 MK165668 Ancient Barham, New South Wales
S2b1b KY595616 Modern Queensland[5]
S2b1b KY595664 Modern Queensland[5]
S2b1c KU659023 Ancient Willandra Lakes Region, New South Wales[4]
S2b1c1 KY595602 Modern New South Wales[5]
S2b1c1 KY595603 Modern New South Wales[5]
S2c JN226145 Modern Western Australia[5]
S2c1 AY289060 Modern Northern Territory[5]
S2c1 KY595624 Modern Queensland[5]
S2d1 KY595557 Modern Queensland[5]
S2d1a AF346964 Modern Northern Territory[5]
S2d1a KY595580 Modern Queensland[5]
S2d2 KY595549 Modern New South Wales[5]
S2d2 KY595592 Modern Queensland[5]
S3 AY289066 Modern Northern Territory[5]
S3 AY289067 Modern Northern Territory[5]
S4 AY289062 Modern Northern Territory[5]
S5 EF495220 Modern Kalumburu, 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

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. ↑ 1.0 1.1 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. 
  2. ↑ 2.0 2.1 Nagle, Nano; van Oven, Mannis; Wilcox, Stephen; van Holst Pellekaan, Sheila; Tyler-Smith, Chris; Xue, Yali; Ballantyne, Kaye N.; Wilcox, Leah et al. (March 2017). "Aboriginal Australian mitochondrial genome variation – an increased understanding of population antiquity and diversity". Scientific Reports 7 (1): 43041. doi:10.1038/srep43041. PMID 28287095. Bibcode: 2017NatSR...743041N. 
  3. ↑ Lambert, David; Wright, Joanne; Westaway, Michael; Subramanian, Sankar (8 June 2016). "New DNA study confirms ancient Aborigines were the First Australians". The Conversation. https://theconversation.com/new-dna-study-confirms-ancient-aborigines-were-the-first-australians-60616. 
  4. ↑ 4.0 4.1 Heupink, Tim H.; Subramanian, Sankar; Wright, Joanne L.; Endicott, Phillip; Westaway, Michael Carrington; Huynen, Leon; Parson, Walther; Millar, Craig D. et al. (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. PMID 27274055. 
  5. ↑ 5.00 5.01 5.02 5.03 5.04 5.05 5.06 5.07 5.08 5.09 5.10 5.11 5.12 5.13 5.14 5.15 5.16 5.17 5.18 5.19 5.20 5.21 5.22 5.23 5.24 5.25 5.26 5.27 5.28 5.29 5.30 5.31 5.32 5.33 5.34 5.35 5.36 5.37 5.38 5.39 5.40 5.41 5.42 5.43 Nagle, Nano; van Oven, Mannis; Wilcox, Stephen; van Holst Pellekaan, Sheila; Tyler-Smith, Chris; Xue, Yali; Ballantyne, Kaye N.; Wilcox, Leah et al. (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. PMID 28287095. 

External links



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