Genetic structure of the Japanese and the formation of the Ainu ...
Genetic structure of the Japanese and the formation of the Ainu ...
Genetic structure of the Japanese and the formation of the Ainu ...
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<strong>Genetic</strong> <strong>structure</strong> <strong>of</strong> <strong>the</strong> <strong>Japanese</strong> <strong>and</strong><br />
<strong>the</strong> <strong>formation</strong> <strong>of</strong> <strong>the</strong> <strong>Ainu</strong> population<br />
Ken-ichi Shinoda<br />
National Museum <strong>of</strong> Nature <strong>and</strong> Science, Tokyo
Mitochondrial DNA<br />
mitochondria<br />
nuclear genome 3 billion<br />
Structures <strong>of</strong> mtDNA<br />
16,569 base pair
History <strong>of</strong> <strong>the</strong> analysis<br />
1980’s<br />
Analysis <strong>of</strong> <strong>the</strong> DNA digestion pattern with restriction<br />
enzymes.<br />
1990’s<br />
Analysis <strong>of</strong> sequence in a region <strong>of</strong> <strong>the</strong><br />
mitochondrial genome that undergoes frequent<br />
mutation.<br />
21th century<br />
Analysis <strong>of</strong> <strong>the</strong> complete DNA sequence <strong>of</strong><br />
mitochondrial genomes.
Human migration <strong>and</strong><br />
<strong>formation</strong> <strong>of</strong> mitochondrial DNA haplogroups<br />
20,000 BP.-<br />
D<br />
A<br />
A<br />
B<br />
X<br />
C<br />
D<br />
L2<br />
L3<br />
L1<br />
I<br />
60,000-20,000 BP.<br />
JT<br />
A B<br />
H<br />
F<br />
U<br />
N U<br />
N<br />
R<br />
M<br />
M<br />
N<br />
M<br />
N<br />
L<br />
Mx<br />
D<br />
My<br />
A<br />
B<br />
X<br />
D<br />
C<br />
B<br />
C<br />
L1<br />
M<br />
N<br />
Q<br />
P<br />
A<br />
D<br />
L2<br />
L3<br />
Mz<br />
Nz<br />
L0<br />
150,000-60,000 BP.
A<br />
Z<br />
Y<br />
G<br />
C<br />
D4<br />
M7a N9b<br />
D5 M8a<br />
M7b<br />
B5 B4<br />
E<br />
F<br />
M7c<br />
Distribution center <strong>of</strong> each haplogroup
MtDNA haplogroup frequencies <strong>of</strong> mainl<strong>and</strong> <strong>Japanese</strong><br />
N9a<br />
F<br />
N9b<br />
B5<br />
D4<br />
B4<br />
M9<br />
M8<br />
M7c<br />
M7b<br />
A<br />
D5<br />
M7a<br />
G<br />
Tanaka et al. 2004
Korea<br />
D4<br />
Nor<strong>the</strong>rn China<br />
Japan<br />
Frequency distribution <strong>of</strong> haplogroup D4 in each population
Jomon vs. Yayoi<br />
40,000 BP.<br />
15,000 BP.<br />
B.C. 1,000<br />
A.D. 300<br />
Paleolithic<br />
Jomon<br />
Yayoi<br />
Historic<br />
Jomon female<br />
Immigrant Yayoi female
Jomon<br />
Yoyoi
Relatedness between 7003 <strong>Japanese</strong> Individuals<br />
Han Chinese<br />
The American Journal <strong>of</strong> Human <strong>Genetic</strong>s 83, 445–456, October 10, 2008<br />
中 国 人<br />
Mainl<strong>and</strong> <strong>Japanese</strong><br />
Okinawa<br />
For <strong>the</strong> <strong>Japanese</strong> individuals, <strong>the</strong>re were two main clusters: <strong>the</strong> Hondo cluster (red plus<br />
signs) <strong>and</strong> <strong>the</strong> Okinawa cluster (green crosses).
Dual <strong>structure</strong> model<br />
(K. Hanihara 1991)<br />
(Okhotsk 5-10 century)<br />
Palaeolithic to Jomon<br />
40,000-12,000 BP.<br />
Yayoi<br />
3,000-1,700 BP.<br />
Historical<br />
1,700 BP. -
Comparison <strong>of</strong> haplogroup frequencies between <strong>the</strong><br />
Jomon, Yayoi, <strong>and</strong> modern <strong>Japanese</strong> populations.<br />
D4<br />
M8<br />
Z<br />
A<br />
N9a<br />
B<br />
F<br />
n= 78<br />
M8<br />
Z<br />
M10<br />
M<br />
N9b<br />
Y<br />
D4<br />
D5<br />
G<br />
M7a<br />
M7<br />
bc<br />
A<br />
N9<br />
a<br />
B<br />
F<br />
n= 1312<br />
D4 D4h2<br />
G M7a<br />
M8<br />
M10<br />
N9b<br />
B<br />
F<br />
n= 119<br />
D5<br />
M7<br />
bc<br />
A<br />
D4 is most common in <strong>the</strong> <strong>Japanese</strong> <strong>and</strong> Yayoi populations.
BSP <strong>of</strong> female effective population size (Nef) through time for<br />
<strong>Japanese</strong> mtDNA lineages.<br />
LGM<br />
Initial population growth<br />
Rapid population growth<br />
PLoS ONE 6(6): e21509.
Population estimates by Koyama<br />
(1984)<br />
5,000-4,000BP<br />
6,000-5,000BP<br />
40,00-30,00BP<br />
3,000-30,00BP<br />
10,000-6,000BP
Moving on to rice agriculture<br />
Original place <strong>of</strong> rice agriculture<br />
5000 BP.<br />
3000 BP.<br />
3000 BP.
Comparison <strong>of</strong> haplogroup frequencies between<br />
Okinawa, <strong>Ainu</strong>, <strong>and</strong> modern <strong>Japanese</strong> populations.<br />
M8 M10<br />
M<br />
N9b<br />
Y<br />
D<br />
G<br />
M7a<br />
M7<br />
bc<br />
A<br />
N9<br />
a<br />
B<br />
F<br />
O<strong>the</strong>r<br />
n=1312<br />
D<br />
G<br />
M7a<br />
M7bc<br />
M<br />
A<br />
N9b<br />
B<br />
F O<strong>the</strong>r<br />
n=372<br />
D<br />
G<br />
M7a<br />
M7<br />
bc<br />
A<br />
N9b<br />
B<br />
F<br />
Y<br />
n=51
Hokkaido Jomon<br />
M7a<br />
N9b<br />
D4h2<br />
G1b<br />
N9b M7a D4 D4h2 Tohoku Jomon<br />
Kyushu Yayoi<br />
M7a N9b B4 M10 Kanto Jomon<br />
Z<br />
A<br />
D4<br />
M8<br />
D4<br />
F<br />
M7bc<br />
M8<br />
N9a<br />
F<br />
B4<br />
G2<br />
D5
Distributions <strong>of</strong> haplogroups G <strong>and</strong> Y <strong>of</strong> each population<br />
<strong>Ainu</strong><br />
Haplogroup G<br />
Haplogroup Y
Population History <strong>of</strong> Hokkaido<br />
7th century<br />
13th century<br />
Jomon to Epi-Jomon Satumon <strong>Ainu</strong><br />
5th century<br />
Okhotsk culture<br />
9th century<br />
D4 9%<br />
o<strong>the</strong>r 2%<br />
N9b<br />
65%<br />
D4h2<br />
17%<br />
G1b<br />
11%<br />
M7a 7%<br />
Y 43%<br />
B4 3%<br />
N9b<br />
11%<br />
G1b<br />
24%<br />
M7a 6%<br />
C 5%<br />
A 8%<br />
B4 1%<br />
Y 33%<br />
N9b<br />
21%<br />
G1b<br />
10%<br />
A 7%<br />
C5a 4%<br />
M7a 5%<br />
Z 1%<br />
M7b 1%<br />
M9 1%<br />
M8a 1%<br />
F 2%<br />
B 2%<br />
N9b 8%<br />
A 4%<br />
M7b,c 4%<br />
Y19%<br />
M7a<br />
16%<br />
D<br />
18%<br />
G<br />
25%<br />
Jomon<br />
Okhotsk culture<br />
Recent <strong>Ainu</strong><br />
(Edo era)<br />
Modern <strong>Ainu</strong>
Thank you
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