genetic structure of the japanese and the formation of the ...genetic structure of the japanese and...
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Genetic structure of the Japanese and the formation of the Ainu population
Ken-ichi Shinoda National Museum of Nature and Science, Tokyo
Structures of mtDNA 16,569 base pair
Mitochondrial DNA
mitochondria
nuclear genome 3 billion
History of the analysis
1980’s
Analysis of the DNA digestion pattern with restriction enzymes.
1990’s Analysis of sequence in a region of the mitochondrial genome that undergoes frequent mutation.
21th century Analysis of the complete DNA sequence of mitochondrial genomes.
L
Human migration and formation of mitochondrial DNA haplogroups
L1
L1
L0
L2
L3 L2
L3
M N
150,000-60,000 BP.
I U
H JT
R U N
N
N
M
M
M N P
Q
A B
D
F
My
Mx
Mz Nz
60,000-20,000 BP. A
B X
C
D
A D
B C
A D
A
B
X C
D
20,000 BP.-
D4 C
A Z
Y
G
D5 M8a
B5 B4
E
M7b
M7a N9b
F M7c
Distribution center of each haplogroup
MtDNA haplogroup frequencies of mainland Japanese
D4
A G M7a
M8
M9
B5
N9a F
D5 M7b M7c
B4
N9b
Tanaka et al. 2004
Frequency distribution of haplogroup D4 in each population
D4
Japan
Korea
Northern China
Jomon vs. Yayoi
Yayoi Historic
40,000 BP.
Jomon Paleolithic
A.D. 300 B.C. 1,000 15,000 BP.
Immigrant Yayoi female Jomon female
Jomon Yoyoi
中国人
For the Japanese individuals, there were two main clusters: the Hondo cluster (red plus signs) and the Okinawa cluster (green crosses).
Relatedness between 7003 Japanese Individuals
Han Chinese
Mainland Japanese
Okinawa
The American Journal of Human Genetics 83, 445–456, October 10, 2008
Historical 1,700 BP. -
Palaeolithic to Jomon 40,000-12,000 BP.
Dual structure model (K. Hanihara 1991)
(Okhotsk 5-10 century)
Yayoi 3,000-1,700 BP.
M7a D4
D4
M7 bc
M8
M8
M10
M10
M7 bc
M
Z
A
A
N9 a
N9b
B
B
N9b F
Y
n= 1312
n= 78
n= 119
G
M8 N9a
Z
F
D4 is most common in the Japanese and Yayoi populations.
D4 D4h2
D5
D5
G M7a
A
F
B
Comparison of haplogroup frequencies between the Jomon, Yayoi, and modern Japanese populations.
BSP of female effective population size (Nef) through time for Japanese mtDNA lineages.
PLoS ONE 6(6): e21509.
Initial population growth LGM
Rapid population growth
Population estimates by Koyama (1984)
5,000-4,000BP
10,000-6,000BP
6,000-5,000BP 40,00-30,00BP
3,000-30,00BP
Moving on to rice agriculture
Original place of rice agriculture 5000 BP.
3000 BP.
3000 BP.
Comparison of haplogroup frequencies between Okinawa, Ainu, and modern Japanese populations.
D
M7a
M7a
M7a
D
D
M7 bc
M7bc
M8 M10
M7 bc
M
M
A
A
A
N9 a
N9b
N9b
N9b
B
B
B
F
F Y
Y
Other
F Other
n=1312
n=372
n=51
G
G
G
N9b G1b D4h2 M7a
Hokkaido Jomon
N9b M7a Tohoku Jomon
M7a N9b Kanto Jomon
D4h2
B4
F M7bc
M10
M8 D4
D4
M8 D4 A Z
N9a B4 F
Kyushu Yayoi
G2 D5
Distributions of haplogroups G and Y of each population
Ainu
Haplogroup G
Haplogroup Y
Jomon to Epi-Jomon Satumon Ainu Okhotsk culture
7th century 13th century
B 2% G
25% M7a 16%
D 18%
N9b 8%
M7b,c 4%
other 2%
F 2%
A 4%
Y19%
Modern Ainu
Population History of Hokkaido
D4h2 17%
G1b 11%
M7a 7% N9b 65%
Jomon Okhotsk culture
B4 3%
M7a 6%
G1b 24%
A 8% N9b 11%
Y 43%
C 5%
Recent Ainu (Edo era)
M7b 1%
B4 1%
D4 9%
M7a 5%
Z 1%
Y 33%
N9b 21%
G1b 10%
A 7%
C5a 4%
M8a 1% M9 1%
5th century 9th century
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