SLIDE 1
Structures of mtDNA
16,569 base pair
Mitochondrial DNA
mitochondria
nuclear genome 3 billion
Genetic structure of the Japanese and the formation of the Ainu - - PowerPoint PPT Presentation
Genetic structure of the Japanese and the formation of the Ainu - - PowerPoint PPT Presentation
Genetic structure of the Japanese and the formation of the Ainu population Ken-ichi Shinoda National Museum of Nature and Science, Tokyo Mitochondrial DNA mitochondria Structures of mtDNA nuclear genome 3 billion 16,569 base pair History of
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SLIDE 3
History of the analysis
1980’s
Analysis of the DNA digestion pattern with restriction enzymes.
1990’s
Analysis
- f
sequence in a region
- f
the mitochondrial genome that undergoes frequent mutation.
21th century
Analysis
- f
the complete DNA sequence
- f
mitochondrial genomes.
SLIDE 4
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.-
SLIDE 5
D4 C A Z Y G D5 M8a
B5 B4
E
M7b M7a N9b
F
M7c
Distribution center of each haplogroup
SLIDE 6
MtDNA haplogroup frequencies of mainland Japanese
D4 A G
M7a
M8 M9
B5
N9a
F D5
M7b M7c
B4
N9b Tanaka et al. 2004
SLIDE 7
Frequency distribution of haplogroup D4 in each population
D4 Japan Korea Northern China
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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
SLIDE 9
Jomon Yoyoi
SLIDE 10
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
SLIDE 11
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.
SLIDE 12
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.
SLIDE 13
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
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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
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Moving on to rice agriculture
Original place of rice agriculture 5000 BP. 3000 BP. 3000 BP.
SLIDE 16
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
SLIDE 17
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
SLIDE 18
Distributions of haplogroups G and Y of each population
Ainu Haplogroup G Haplogroup Y
SLIDE 19
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%
- ther 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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