Haplogroup S (mtDNA)

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.

Map of Haplogroup S mtDNA

Haplogroup S
Possible time of origin	64,000-47,000 years ago
Possible place of origin	Australia
Ancestor	N
Descendants	S1, S2, S3, S4, S5, S6
Defining mutations	8404[1]

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
  • S-T152C!
    • S3 (17-1 kya) found in NT
    • S4 found in NT
    • S5 found in WA
  • S6 found in NSW

See also

• 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

T