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Haplogroup S (mtDNA)

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

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]
Map of Haplogroup S mtDNA

Origin edit

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

Distribution edit

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 edit

Tree edit

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 edit

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 edit

  1. ^ a b 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. ^ a b 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. ^ a b 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. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag ah ai aj ak al am an ao ap aq ar 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 edit

  • Ian Logan's
  • Mannis van Oven's Phylotree

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This article is about the human mtDNA haplogroup For the human Y DNA haplogroup see Haplogroup S B254 In human genetics Haplogroup S is a human mitochondrial DNA mtDNA haplogroup found only among Indigenous Australians It is a descendant of macrohaplogroup N Haplogroup SPossible time of origin64 000 47 000 years agoPossible place of originAustraliaAncestorNDescendantsS1 S2 S3 S4 S5 S6Defining mutations8404 1 Map of Haplogroup S mtDNA Contents 1 Origin 2 Distribution 3 Subclades 3 1 Tree 4 See also 5 References 6 External linksOrigin editHaplogroup S mtDNA evolved within Australia between 64 000 and 40 000 years ago 51 kya 2 Distribution editIt 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 AustraliaSubclades editTree edit 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 NSWSee also edit nbsp Wikimedia Commons has media related to Haplogroup S mtDNA Genealogical DNA test Genetic genealogy Human mitochondrial genetics Population genetics 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 TReferences edit a b 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 a b 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 Lambert David Wright Joanne Westaway Michael Subramanian Sankar 8 June 2016 New DNA study confirms ancient Aborigines were the First Australians The Conversation a b 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 a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag ah ai aj ak al am an ao ap aq ar 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 editIan Logan s Mitochondrial DNA Site Mannis van Oven s Phylotree nbsp This genetics article is a stub You can help Wikipedia by expanding it vte nbsp nbsp This bioinformatics related article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Haplogroup S mtDNA amp oldid 1197415092, wikipedia, wiki, book, books, library,

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