Haplogroup S (mtDNA)

Last updated
Haplogroup S
Possible time of origin64,000-47,000 years ago
Possible place of originAustralia
Ancestor N
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.

Contents

Map of Haplogroup S mtDNA Sahul map.jpg
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* 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]

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 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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