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

Related Research Articles

Haplogroup J is a human mitochondrial DNA (mtDNA) haplogroup. The clade derives from the haplogroup JT, which also gave rise to haplogroup T. Within the field of medical genetics, certain polymorphisms specific to haplogroup J have been associated with Leber's hereditary optic neuropathy.

Haplogroup V is a human mitochondrial DNA (mtDNA) haplogroup. The clade is believed to have originated over 14,000 years ago in Southern Europe.

Haplogroup HV is a human mitochondrial DNA (mtDNA) haplogroup.

<span class="mw-page-title-main">Haplogroup L3</span> Widespread human mitochondrial DNA grouping indicating common ancestry

Haplogroup L3 is a human mitochondrial DNA (mtDNA) haplogroup. The clade has played a pivotal role in the early dispersal of anatomically modern humans.

<span class="mw-page-title-main">Haplogroup L1</span> Human mitochondrial DNA grouping indicating common ancestry

Haplogroup L1 is a human mitochondrial DNA (mtDNA) haplogroup. It is most common in Central Africa and West Africa. It diverged from L1-6 at about 140,000 years ago . Its emergence is associated with the early peopling of Africa by anatomically modern humans during the Eemian, and it is now mostly found in African pygmies.

In human mitochondrial genetics, Haplogroup Z is a human mitochondrial DNA (mtDNA) haplogroup.

<span class="mw-page-title-main">Human mitochondrial DNA haplogroup</span> Haplogroup defined by differences in human mitochondrial DNA

In human genetics, a human mitochondrial DNA haplogroup is a haplogroup defined by differences in human mitochondrial DNA. Haplogroups are used to represent the major branch points on the mitochondrial phylogenetic tree. Understanding the evolutionary path of the female lineage has helped population geneticists trace the matrilineal inheritance of modern humans back to human origins in Africa and the subsequent spread around the globe.

Haplogroup JT is a human mitochondrial DNA (mtDNA) haplogroup.

In human mitochondrial genetics, haplogroup E is a human mitochondrial DNA (mtDNA) haplogroup typical for the Malay Archipelago. It is a subgroup of haplogroup M9.

Haplogroup L0 is a human mitochondrial DNA (mtDNA) haplogroup.

<span class="mw-page-title-main">Haplogroup Q (mtDNA)</span>

In human mitochondrial genetics, haplogroup Q is a human mitochondrial DNA (mtDNA) haplogroup typical for Oceania. It is a subgroup of haplogroup M29'Q.

In human mitochondrial genetics, the Haplogroup CZ is a human mitochondrial DNA (mtDNA) haplogroup.

<span class="mw-page-title-main">Haplogroup P (mtDNA)</span> Human mitochondrial DNA haplogroup

In human mitochondrial genetics, Haplogroup P is a human mitochondrial DNA (mtDNA) haplogroup.

<span class="mw-page-title-main">Haplogroup L4</span> African mitochondrial DNA grouping indicating common ancestry

Haplogroup L4 is a human mitochondrial DNA (mtDNA) haplogroup. It is a small maternal clade primarily restricted to Africa.

Haplogroup L5 is a human mitochondrial DNA (mtDNA) clade. It was previously known as L1e.

In human mitochondrial genetics, Haplogroup L6 is a human mitochondrial DNA (mtDNA) haplogroup. It is a small African haplogroup.

Haplogroup R0 is a human mitochondrial DNA (mtDNA) haplogroup.

In human mitochondrial genetics, Haplogroup K1a1b1a is a human mitochondrial DNA (mtDNA) haplogroup.

Haplogroup O mtDNA is a haplogroup derived from haplogroup N and found in Oceania. Specifically, it is found among Aboriginal Australians. Its defining mutations are G6755A, C9140T, and G16213A.

In human mitochondrial genetics, Haplogroup M8 is a human mitochondrial DNA (mtDNA) haplogroup.

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.
This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.